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FGFR1 fibroblast growth factor receptor 1 [ Homo sapiens (human) ]

Gene ID: 2260, updated on 7-Jul-2014
Official Symbol
FGFR1provided by HGNC
Official Full Name
fibroblast growth factor receptor 1provided by HGNC
Primary source
HGNC:3688
See related
Ensembl:ENSG00000077782; HPRD:00634; MIM:136350; Vega:OTTHUMG00000147366
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CEK; FLG; HH2; OGD; FLT2; KAL2; BFGFR; CD331; FGFBR; FLT-2; HBGFR; N-SAM; FGFR-1; HRTFDS; bFGF-R-1
Summary
The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
See FGFR1 in Epigenomics, MapViewer
Location:
8p11.23-p11.22
Exon count :
22
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 8 NC_000008.11 (38411138..38468834, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (38268656..38326352, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene Wolf-Hirschhorn syndrome candidate 1-like 1 Neighboring gene uncharacterized LOC102723716 Neighboring gene leucine zipper-EF-hand containing transmembrane protein 2 Neighboring gene ribosomal protein S20 pseudogene 22 Neighboring gene chromosome 8 open reading frame 86 Neighboring gene ring finger protein 5, E3 ubiquitin protein ligase pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-03-22)

ISCA Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-03-22)

ISCA Genome Curation PagePubMed
  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Adherens junction, organism-specific biosystem (from KEGG)
    Adherens junction, organism-specific biosystemCell-cell adherens junctions (AJs), the most common type of intercellular adhesions, are important for maintaining tissue architecture and cell polarity and can limit cell movement and proliferation....
  • Adherens junction, conserved biosystem (from KEGG)
    Adherens junction, conserved biosystemCell-cell adherens junctions (AJs), the most common type of intercellular adhesions, are important for maintaining tissue architecture and cell polarity and can limit cell movement and proliferation....
  • Axon guidance, organism-specific biosystem (from REACTOME)
    Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
  • Constitutive PI3K/AKT Signaling in Cancer, organism-specific biosystem (from REACTOME)
    Constitutive PI3K/AKT Signaling in Cancer, organism-specific biosystemClass IA PI3K is a heterodimer of a p85 regulatory subunit (encoded by PIK3R1, PIK3R2 or PIK3R3) and a p110 catalytic subunit (encoded by PIK3CA, PIK3CB or PIK3CD). In the absence of activating signa...
  • DAP12 interactions, organism-specific biosystem (from REACTOME)
    DAP12 interactions, organism-specific biosystemDNAX activation protein of 12kDa (DAP12) is an immunoreceptor tyrosine-based activation motif (ITAM)-bearing adapter molecule that transduces activating signals in natural killer (NK) and myeloid cel...
  • DAP12 signaling, organism-specific biosystem (from REACTOME)
    DAP12 signaling, organism-specific biosystemIn response to receptor ligation, the tyrosine residues in DAP12's immunoreceptor tyrosine-based activation motif (ITAM) are phosphorylated by Src family kinases. These phosphotyrosines form the dock...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Downstream signal transduction, organism-specific biosystem (from REACTOME)
    Downstream signal transduction, organism-specific biosystemThe role of autophosphorylation sites on PDGF receptors are to provide docking sites for downstream signal transduction molecules which contain SH2 domains. The SH2 domain is a conserved motif of aro...
  • Downstream signaling events of B Cell Receptor (BCR), organism-specific biosystem (from REACTOME)
    Downstream signaling events of B Cell Receptor (BCR), organism-specific biosystemSecond messengers (calcium, diacylglycerol, inositol 1,4,5-trisphosphate, and phosphatidyinositol 3,4,5-trisphosphate) trigger signaling pathways: NF-kappaB is activated via protein kinase C beta, RA...
  • Downstream signaling of activated FGFR, organism-specific biosystem (from REACTOME)
    Downstream signaling of activated FGFR, organism-specific biosystemSignaling via FGFRs is mediated via direct recruitment of signaling proteins that bind to tyrosine auto-phosphorylation sites on the activated receptor and via closely linked docking proteins that be...
  • Endochondral Ossification, organism-specific biosystem (from WikiPathways)
    Endochondral Ossification, organism-specific biosystem
    Endochondral Ossification
  • FGF signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    FGF signaling pathway, organism-specific biosystem
    FGF signaling pathway
  • FGFR ligand binding and activation, organism-specific biosystem (from REACTOME)
    FGFR ligand binding and activation, organism-specific biosystemThe FGFs are a family of 22 secreted glycoproteins that are sequestered in the extracellular matrix (ECM) through their interaction with heparin and heparin sulphate proteoglycans (HSPGs). Release o...
  • FGFR1 ligand binding and activation, organism-specific biosystem (from REACTOME)
    FGFR1 ligand binding and activation, organism-specific biosystemThe vertebrate fibroblast growth factor receptor 1 (FGFR1) is alternatively spliced generating multiple variants that are differentially expressed during embryo development and in the adult body. The...
  • FGFR1c and Klotho ligand binding and activation, organism-specific biosystem (from REACTOME)
    FGFR1c and Klotho ligand binding and activation, organism-specific biosystemFGF23 is a member of the endocrine subfamily of FGFs. It is produced in bone tissue and regulates kidney functions. Klotho is essential for endogenous FGF23 function as it converts FGFR1c into a spec...
  • FGFR1c ligand binding and activation, organism-specific biosystem (from REACTOME)
    FGFR1c ligand binding and activation, organism-specific biosystemThis pathway depicts the binding of an experimentally-verified range of ligands to FGFR1c. While binding affinities may vary considerably within this set, the ligands listed have been established to ...
  • FRS2-mediated cascade, organism-specific biosystem (from REACTOME)
    FRS2-mediated cascade, organism-specific biosystemThe FRS family of scaffolding adaptor proteins has two members, FRS2alpha and FRS2beta (also known as FRS3 or SNT-2). Activation of FGFR tyrosine kinase allows FRS2 proteins to become phosphorylated...
  • Fc epsilon receptor (FCERI) signaling, organism-specific biosystem (from REACTOME)
    Fc epsilon receptor (FCERI) signaling, organism-specific biosystemMast cells (MC) are distributed in tissues throughout the human body and have long been recognized as key cells of type I hypersensitivity reactions. They also play important roles in inflammatory an...
  • GAB1 signalosome, organism-specific biosystem (from REACTOME)
    GAB1 signalosome, organism-specific biosystemGAB1 is recruited to the activated EGFR indirectly, through GRB2. GAB1 acts as an adaptor protein that enables formation of an active PIK3, through recruitment of PIK3 regulatory subunit PIK3R1 (also...
  • Glypican 1 network, organism-specific biosystem (from Pathway Interaction Database)
    Glypican 1 network, organism-specific biosystem
    Glypican 1 network
  • IGF1R signaling cascade, organism-specific biosystem (from REACTOME)
    IGF1R signaling cascade, organism-specific biosystemAfter autophosphorylation the type 1 insulin-like growth factor receptor (IGF1R) binds and phosphorylates scaffold proteins, IRS1/2/4 and SHC1, which in turn bind effectors possessing enzymatic activ...
  • IRS-mediated signalling, organism-specific biosystem (from REACTOME)
    IRS-mediated signalling, organism-specific biosystemRelease of phospho-IRS from the insulin receptor triggers a cascade of signalling events via PI3K, SOS, RAF and the MAP kinases.
  • IRS-related events, organism-specific biosystem (from REACTOME)
    IRS-related events, organism-specific biosystemIRS is one of the mediators of insulin signalling events. It is activated by phosphorylation and triggers a cascade of events involving PI3K, SOS, RAF and the MAP kinases. The proteins mentioned unde...
  • IRS-related events triggered by IGF1R, organism-specific biosystem (from REACTOME)
    IRS-related events triggered by IGF1R, organism-specific biosystemThe phosphorylated type 1 insulin-like growth factor receptor phosphorylates IR1, IRS2, IRS4 and possibly other IRS/DOK family members (reviewed in Pavelic et al. 2007, Chitnis et al. 2008, Maki et a...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Insulin receptor signalling cascade, organism-specific biosystem (from REACTOME)
    Insulin receptor signalling cascade, organism-specific biosystemAutophosphorylation of the insulin receptor triggers a series of signalling events, mediated by SHC or IRS, and resulting in activation of the Ras/RAF and MAP kinase cascades. A second effect of the ...
  • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
  • Klotho-mediated ligand binding, organism-specific biosystem (from REACTOME)
    Klotho-mediated ligand binding, organism-specific biosystemThe endocrine FGFs (19, 21 and 23) have lower affinity for heparin and HSPG compared to their paracrine or autocrine coutnerparts. Binding of these ligands to their receptors is generally aided by t...
  • L1CAM interactions, organism-specific biosystem (from REACTOME)
    L1CAM interactions, organism-specific biosystemThe L1 family of cell adhesion molecules (L1CAMs) are a subfamily of the immunoglobulin superfamily of transmembrane receptors, comprised of four structurally related proteins: L1, Close Homolog of L...
  • MAPK signaling pathway, organism-specific biosystem (from KEGG)
    MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
  • MAPK signaling pathway, conserved biosystem (from KEGG)
    MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
  • Melanoma, organism-specific biosystem (from KEGG)
    Melanoma, organism-specific biosystemMelanoma is a form of skin cancer that has a poor prognosis and which is on the rise in Western populations. Melanoma arises from the malignant transformation of pigment-producing cells, melanocytes...
  • Melanoma, conserved biosystem (from KEGG)
    Melanoma, conserved biosystemMelanoma is a form of skin cancer that has a poor prognosis and which is on the rise in Western populations. Melanoma arises from the malignant transformation of pigment-producing cells, melanocytes...
  • N-cadherin signaling events, organism-specific biosystem (from Pathway Interaction Database)
    N-cadherin signaling events, organism-specific biosystem
    N-cadherin signaling events
  • NCAM signaling for neurite out-growth, organism-specific biosystem (from REACTOME)
    NCAM signaling for neurite out-growth, organism-specific biosystemThe neural cell adhesion molecule, NCAM, is a member of the immunoglobulin (Ig) superfamily and is involved in a variety of cellular processes of importance for the formation and maintenance of the n...
  • NGF signalling via TRKA from the plasma membrane, organism-specific biosystem (from REACTOME)
    NGF signalling via TRKA from the plasma membrane, organism-specific biosystemTrk receptors signal from the plasma membrane and from intracellular membranes, particularly from early endosomes. Signalling from the plasma membrane is fast but transient; signalling from endosomes...
  • Negative regulation of FGFR signaling, organism-specific biosystem (from REACTOME)
    Negative regulation of FGFR signaling, organism-specific biosystemOnce activated, the FGFR signaling pathway is regulated by numerous negative feedback mechanisms. These include downregulation of receptors through CBL-mediated ubiquitination and endocytosis, ERK-m...
  • Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
    Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...
  • PI-3K cascade, organism-specific biosystem (from REACTOME)
    PI-3K cascade, organism-specific biosystemThe ability of growth factors to protect from apoptosis is primarily due to the activation of the AKT survival pathway. P-I-3-kinase dependent activation of PDK leads to the activation of AKT which i...
  • PI3K Cascade, organism-specific biosystem (from REACTOME)
    PI3K Cascade, organism-specific biosystem
    PI3K Cascade
  • PI3K events in ERBB2 signaling, organism-specific biosystem (from REACTOME)
    PI3K events in ERBB2 signaling, organism-specific biosystemERBB2:ERBB3 and ERBB2:ERBB4cyt1 heterodimers activate PI3K signaling by direct binding of PI3K regulatory subunit p85 (Yang et al. 2007, Cohen et al. 1996, Kaushansky et al. 2008) to phosphorylated t...
  • PI3K events in ERBB4 signaling, organism-specific biosystem (from REACTOME)
    PI3K events in ERBB4 signaling, organism-specific biosystemThe CYT1 isoforms of ERBB4 possess a C-tail tyrosine residue that, upon trans-autophosphorylation, serves as a docking site for the p85 alpha subunit of PI3K - PIK3R1 (Kaushansky et al. 2008, Cohen e...
  • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
    PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
    PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • PI3K/AKT Signaling in Cancer, organism-specific biosystem (from REACTOME)
    PI3K/AKT Signaling in Cancer, organism-specific biosystemThis pathway describes how normal signaling by PI3K/AKT, presented in the contained module 'PIP3 Activates AKT Signaling' and recently reviewed by Manning and Cantley in 2007, is perturbed in cancer,...
  • PI3K/AKT activation, organism-specific biosystem (from REACTOME)
    PI3K/AKT activation, organism-specific biosystemPI3K/AKT signalling is a major regulator of neuron survival. It blocks cell death by both impinging on the cytoplasmic cell death machinery and by regulating the expression of genes involved in cell...
  • PIP3 activates AKT signaling, organism-specific biosystem (from REACTOME)
    PIP3 activates AKT signaling, organism-specific biosystemSignaling by AKT is one of the key outcomes of receptor tyrosine kinase (RTK) activation. AKT is activated by the cellular second messenger PIP3, a phospholipid that is generated by PI3K. In ustimula...
  • Pathways in cancer, organism-specific biosystem (from KEGG)
    Pathways in cancer, organism-specific biosystem
    Pathways in cancer
  • Phospholipase C-mediated cascade, organism-specific biosystem (from REACTOME)
    Phospholipase C-mediated cascade, organism-specific biosystemPhospholipase C-gamma (PLC-gamma) is a substrate of the fibroblast growth factor receptor (FGFR) and other receptors with tyrosine kinase activity. It is known that the src homology region 2 (SH2 dom...
  • Prostate cancer, organism-specific biosystem (from KEGG)
    Prostate cancer, organism-specific biosystemProstate cancer constitutes a major health problem in Western countries. It is the most frequently diagnosed cancer among men and the second leading cause of male cancer deaths. The identification of...
  • Prostate cancer, conserved biosystem (from KEGG)
    Prostate cancer, conserved biosystemProstate cancer constitutes a major health problem in Western countries. It is the most frequently diagnosed cancer among men and the second leading cause of male cancer deaths. The identification of...
  • Proteoglycans in cancer, organism-specific biosystem (from KEGG)
    Proteoglycans in cancer, organism-specific biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
  • Proteoglycans in cancer, conserved biosystem (from KEGG)
    Proteoglycans in cancer, conserved biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
  • Rap1 signaling pathway, organism-specific biosystem (from KEGG)
    Rap1 signaling pathway, organism-specific biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
  • Rap1 signaling pathway, conserved biosystem (from KEGG)
    Rap1 signaling pathway, conserved biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
  • Ras signaling pathway, organism-specific biosystem (from KEGG)
    Ras signaling pathway, organism-specific biosystemThe Ras proteins are GTPases that function as molecular switches for signaling pathways regulating cell proliferation, survival, growth, migration, differentiation or cytoskeletal dynamism. Ras prote...
  • Regulation of Actin Cytoskeleton, organism-specific biosystem (from WikiPathways)
    Regulation of Actin Cytoskeleton, organism-specific biosystemhttp://www.genome.jp/kegg/pathway/hsa/hsa04810.html
  • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
    Regulation of actin cytoskeleton, organism-specific biosystem
    Regulation of actin cytoskeleton
  • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
    Regulation of actin cytoskeleton, conserved biosystem
    Regulation of actin cytoskeleton
  • Role of LAT2/NTAL/LAB on calcium mobilization, organism-specific biosystem (from REACTOME)
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  • SHC-mediated cascade, organism-specific biosystem (from REACTOME)
    SHC-mediated cascade, organism-specific biosystemThe exact role of SHC1 in FGFR signaling remains unclear. Numerous studies have shown that the p46 and p52 isoforms of SHC1 are phosphorylated in response to FGF stimulation, but direct interaction...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signal transduction by L1, organism-specific biosystem (from REACTOME)
    Signal transduction by L1, organism-specific biosystemBesides adhesive roles in cell cell interaction, L1 functions as a signal transducing receptor providing neurons with cues from their environment for axonal growth and guidance. L1 associates with be...
  • Signaling Pathways in Glioblastoma, organism-specific biosystem (from WikiPathways)
    Signaling Pathways in Glioblastoma, organism-specific biosystemThe most frequently altered genes in glioblastoma. This pathway originally accompanied the 2008 Nature publication on the comprehensive genomic characterization of human glioblastoma genes and core p...
  • Signaling by EGFR, organism-specific biosystem (from REACTOME)
    Signaling by EGFR, organism-specific biosystemThe epidermal growth factor receptor (EGFR) is one member of the ERBB family of transmembrane glycoprotein tyrosine receptor kinases (RTK). Binding of EGFR to its ligands induces conformational chang...
  • Signaling by EGFR in Cancer, organism-specific biosystem (from REACTOME)
    Signaling by EGFR in Cancer, organism-specific biosystemThe pathway "Signaling by EGFR in Cancer" shows "Signaling by constitutively active EGFR" in parallel with "Signaling by EGFR". This allows users to compare signaling by constitutively active EGFR ca...
  • Signaling by ERBB2, organism-specific biosystem (from REACTOME)
    Signaling by ERBB2, organism-specific biosystemERBB2, also known as HER2 or NEU, is a receptor tyrosine kinase (RTK) belonging to the EGFR family. ERBB2 possesses an extracellular domain that does not bind any known ligand, contrary to other EGFR...
  • Signaling by ERBB4, organism-specific biosystem (from REACTOME)
    Signaling by ERBB4, organism-specific biosystemERBB4, also known as HER4, belongs to the ERBB family of receptors, which also includes ERBB1 (EGFR i.e. HER1), ERBB2 (HER2 i.e. NEU) and ERBB3 (HER3). Similar to EGFR, ERBB4 has an extracellular lig...
  • Signaling by FGFR, organism-specific biosystem (from REACTOME)
    Signaling by FGFR, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
  • Signaling by FGFR in disease, organism-specific biosystem (from REACTOME)
    Signaling by FGFR in disease, organism-specific biosystemThe pathway 'Signaling by FGFR in disease' shows 'Signaling by FGFR mutants' in parallel with the wild-type pathway 'Signaling by FGFR', allowing users to compare disease and normal events. FGFR mut...
  • Signaling by FGFR mutants, organism-specific biosystem (from REACTOME)
    Signaling by FGFR mutants, organism-specific biosystemA number of skeletal and developmental diseases have been shown to arise as a result of mutations in the FGFR1, 2 and 3 genes. These include dwarfism syndromes (achondroplasia, hypochondroplasia and...
  • Signaling by FGFR1 amplification mutants, organism-specific biosystem (from REACTOME)
    Signaling by FGFR1 amplification mutants, organism-specific biosystemAmplification or activation of FGFR1 has been reported in lung cancer (Weiss, 2001; Marek, 2009; Dutt, 2011), breast cancer (Reis-Filho, 2006; Turner, 2010), oral squamous carcinoma (Freier, 2007), ...
  • Signaling by FGFR1 mutants, organism-specific biosystem (from REACTOME)
    Signaling by FGFR1 mutants, organism-specific biosystemThe FGFR1 gene has been shown to be subject to activating mutations, chromosomal rearrangements and gene amplification leading to a variety of proliferative and developmental disorders depending on w...
  • Signaling by Insulin receptor, organism-specific biosystem (from REACTOME)
    Signaling by Insulin receptor, organism-specific biosystemInsulin binding to its receptor results in receptor autophosphorylation on tyrosine residues and the tyrosine phosphorylation of insulin receptor substrates (e.g. IRS and Shc) by the insulin receptor...
  • Signaling by PDGF, organism-specific biosystem (from REACTOME)
    Signaling by PDGF, organism-specific biosystemPlatelet-derived Growth Factor (PDGF) is a potent stimulator of growth and motility of connective tissue cells such as fibroblasts and smooth muscle cells as well as other cells such as capillary end...
  • Signaling by SCF-KIT, organism-specific biosystem (from REACTOME)
    Signaling by SCF-KIT, organism-specific biosystemStem cell factor (SCF) is a growth factor with membrane bound and soluble forms. It is expressed by fibroblasts and endothelial cells throughout the body, promoting proliferation, migration, survival...
  • Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R), organism-specific biosystem (from REACTOME)
    Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R), organism-specific biosystemBinding of IGF1 (IGF-I) or IGF2 (IGF-II) to the extracellular alpha peptides of the type 1 insulin-like growth factor receptor (IGF1R) triggers the activation of two major signaling pathways: the SOS...
  • Signaling by activated point mutants of FGFR1, organism-specific biosystem (from REACTOME)
    Signaling by activated point mutants of FGFR1, organism-specific biosystemUnlike other FGFR2 and 3, FGFR1 appears not to be a frequent target of activating point mutations (reviewed in Wesche, 2011; Turner and Grose, 2010). Germline point mutations at residue P252 have be...
  • Signaling by the B Cell Receptor (BCR), organism-specific biosystem (from REACTOME)
    Signaling by the B Cell Receptor (BCR), organism-specific biosystemMature B cells express IgM and IgD immunoglobulins which are complexed at the plasma membrane with Ig-alpha (CD79A, MB-1) and Ig-beta (CD79B, B29) to form the B cell receptor (BCR) (Fu et al. 1974, F...
  • Signalling by NGF, organism-specific biosystem (from REACTOME)
    Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...
  • Syndecan-4-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
    Syndecan-4-mediated signaling events, organism-specific biosystem
    Syndecan-4-mediated signaling events
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
fibroblast growth factor binding IDA
Inferred from Direct Assay
more info
PubMed 
fibroblast growth factor-activated receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
fibroblast growth factor-activated receptor activity TAS
Traceable Author Statement
more info
PubMed 
heparin binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
 
protein tyrosine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
Fc-epsilon receptor signaling pathway TAS
Traceable Author Statement
more info
 
MAPK cascade TAS
Traceable Author Statement
more info
PubMed 
angiogenesis IEA
Inferred from Electronic Annotation
more info
 
auditory receptor cell development IEA
Inferred from Electronic Annotation
more info
 
axon guidance TAS
Traceable Author Statement
more info
 
branching involved in salivary gland morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cell maturation IEA
Inferred from Electronic Annotation
more info
 
cell migration TAS
Traceable Author Statement
more info
PubMed 
chondrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
chordate embryonic development TAS
Traceable Author Statement
more info
PubMed 
embryonic limb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
epidermal growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
fibroblast growth factor receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
fibroblast growth factor receptor signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
fibroblast growth factor receptor signaling pathway IPI
Inferred from Physical Interaction
more info
PubMed 
fibroblast growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development IEA
Inferred from Electronic Annotation
more info
 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
innate immune response TAS
Traceable Author Statement
more info
 
inner ear morphogenesis IEA
Inferred from Electronic Annotation
more info
 
insulin receptor signaling pathway TAS
Traceable Author Statement
more info
 
lung-associated mesenchyme development IEA
Inferred from Electronic Annotation
more info
 
mesenchymal cell differentiation IEA
Inferred from Electronic Annotation
more info
 
midbrain development IEA
Inferred from Electronic Annotation
more info
 
middle ear morphogenesis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
neuron migration TAS
Traceable Author Statement
more info
PubMed 
neurotrophin TRK receptor signaling pathway TAS
Traceable Author Statement
more info
 
organ induction IEA
Inferred from Electronic Annotation
more info
 
outer ear morphogenesis IEA
Inferred from Electronic Annotation
more info
 
paraxial mesoderm development IEA
Inferred from Electronic Annotation
more info
 
peptidyl-tyrosine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-mediated signaling TAS
Traceable Author Statement
more info
PubMed 
positive regulation of MAP kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of MAPK cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cardiac muscle cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell cycle IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell proliferation IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of mesenchymal cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neuron differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of neuron projection development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of phosphatidylinositol 3-kinase signaling TAS
Traceable Author Statement
more info
PubMed 
positive regulation of phospholipase C activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of phospholipase activity TAS
Traceable Author Statement
more info
PubMed 
protein autophosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
protein phosphorylation NAS
Non-traceable Author Statement
more info
PubMed 
regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling IEA
Inferred from Electronic Annotation
more info
 
regulation of cell differentiation TAS
Traceable Author Statement
more info
PubMed 
regulation of extrinsic apoptotic signaling pathway in absence of ligand IEA
Inferred from Electronic Annotation
more info
 
regulation of lateral mesodermal cell fate specification IEA
Inferred from Electronic Annotation
more info
 
sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
skeletal system development TAS
Traceable Author Statement
more info
PubMed 
skeletal system morphogenesis TAS
Traceable Author Statement
more info
PubMed 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
ureteric bud development IEA
Inferred from Electronic Annotation
more info
 
ventricular zone neuroblast division IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasmic membrane-bounded vesicle IEA
Inferred from Electronic Annotation
more info
 
cytosol IEA
Inferred from Electronic Annotation
more info
 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IDA
Inferred from Direct Assay
more info
 
Preferred Names
fibroblast growth factor receptor 1
Names
fibroblast growth factor receptor 1
FGFR1/PLAG1 fusion
proto-oncogene c-Fgr
FMS-like tyrosine kinase 2
hydroxyaryl-protein kinase
fms-related tyrosine kinase 2
heparin-binding growth factor receptor
basic fibroblast growth factor receptor 1
NP_001167534.1
NP_001167535.1
NP_001167536.1
NP_001167537.1
NP_001167538.1
NP_056934.2
NP_075593.1
NP_075594.1
NP_075598.2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007729.1 

    Range
    5001..62697
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001174063.1NP_001167534.1  fibroblast growth factor receptor 1 isoform 10 precursor

    See proteins identical to NP_001167534.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (10) lacks a 2-aa segment, compared to isoform 1.
    Source sequence(s)
    BC015035, FJ809917
    Consensus CDS
    CCDS55222.1
    UniProtKB/Swiss-Prot
    P11362
    Related
    ENSP00000432972, OTTHUMP00000190875, ENST00000532791, OTTHUMT00000304011
    Conserved Domains (8) summary
    cd05098
    Location:457763
    Blast Score: 1758
    PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
    cd04973
    Location:40118
    Blast Score: 396
    Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd04974
    Location:270359
    Blast Score: 490
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:163247
    Blast Score: 474
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00408
    Location:47108
    Blast Score: 156
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:262358
    Blast Score: 176
    IG_like; Immunoglobulin like
    pfam07679
    Location:160247
    Blast Score: 182
    I-set; Immunoglobulin I-set domain
    pfam07714
    Location:476752
    Blast Score: 1087
    Pkinase_Tyr; Protein tyrosine kinase
  2. NM_001174064.1NP_001167535.1  fibroblast growth factor receptor 1 isoform 11 precursor

    See proteins identical to NP_001167535.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) includes an alternate exon, uses an alternate translation start site, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (11) has a shorter and distinct N-terminus and lacks a 2-aa segment, compared to isoform 1.
    Source sequence(s)
    AB208919, FJ809917
    Consensus CDS
    CCDS55221.1
    UniProtKB/Swiss-Prot
    P11362
    Conserved Domains (8) summary
    cd05098
    Location:449755
    Blast Score: 1758
    PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
    cd04973
    Location:32110
    Blast Score: 396
    Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd04974
    Location:262351
    Blast Score: 492
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:155239
    Blast Score: 474
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00408
    Location:39100
    Blast Score: 157
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:254350
    Blast Score: 177
    IG_like; Immunoglobulin like
    pfam07679
    Location:152239
    Blast Score: 182
    I-set; Immunoglobulin I-set domain
    pfam07714
    Location:468744
    Blast Score: 1087
    Pkinase_Tyr; Protein tyrosine kinase
  3. NM_001174065.1NP_001167536.1  fibroblast growth factor receptor 1 isoform 2 precursor

    See proteins identical to NP_001167536.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12) represents use of an alternate promoter and 5' UTR and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (2), also known as isoform A, III, and the 3-Ig domain form, lacks a 2-aa segment, compared to isoform 1. Both variants 2 and 12 encode the same isoform.z
    Source sequence(s)
    AK291754, AK292470, FJ809917
    Consensus CDS
    CCDS43732.1
    UniProtKB/Swiss-Prot
    P11362
    Conserved Domains (8) summary
    cd05098
    Location:457763
    Blast Score: 1761
    PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
    cd04973
    Location:40118
    Blast Score: 395
    Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd04974
    Location:268357
    Blast Score: 490
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:161245
    Blast Score: 474
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00408
    Location:47108
    Blast Score: 156
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:260356
    Blast Score: 176
    IG_like; Immunoglobulin like
    pfam07679
    Location:158245
    Blast Score: 181
    I-set; Immunoglobulin I-set domain
    pfam07714
    Location:476752
    Blast Score: 1089
    Pkinase_Tyr; Protein tyrosine kinase
  4. NM_001174066.1NP_001167537.1  fibroblast growth factor receptor 1 isoform 3 precursor

    See proteins identical to NP_001167537.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12) represents use of an alternate promoter and 5' UTR and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (3), also known as isoform Beta A1, II, H2, and the 2-Ig Domain+2 AA insert form, lacks the first Ig domain, compared to isoform 1. Both variants 3 and 13 encode the same isoform.
    Source sequence(s)
    AK292470, FJ809917
    Consensus CDS
    CCDS43730.1
    UniProtKB/Swiss-Prot
    P11362
    Conserved Domains (6) summary
    cd05098
    Location:370676
    Blast Score: 1754
    PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
    cd04974
    Location:181270
    Blast Score: 491
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:74158
    Blast Score: 472
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00410
    Location:173269
    Blast Score: 177
    IG_like; Immunoglobulin like
    pfam07679
    Location:71158
    Blast Score: 183
    I-set; Immunoglobulin I-set domain
    pfam07714
    Location:389665
    Blast Score: 1082
    Pkinase_Tyr; Protein tyrosine kinase
  5. NM_001174067.1NP_001167538.1  fibroblast growth factor receptor 1 isoform 14 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14) represents use of an alternate promoter and 5' UTR, includes an alternate exon, uses an alternate translation start site, and uses an alternate in-frame splice site, compared to variant 1. The resulting isoform (14) lacks two internal segments, compared to isoform 1.
    Source sequence(s)
    AC087623, AK292470, AK309947, FJ809917
    Consensus CDS
    CCDS55223.1
    UniProtKB/Swiss-Prot
    P11362
    Related
    ENSP00000393312, ENST00000425967
    Conserved Domains (8) summary
    cd05098
    Location:490796
    Blast Score: 1761
    PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
    cd04973
    Location:73151
    Blast Score: 395
    Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd04974
    Location:301390
    Blast Score: 491
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:194278
    Blast Score: 473
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00408
    Location:80141
    Blast Score: 156
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:293389
    Blast Score: 175
    IG_like; Immunoglobulin like
    pfam07679
    Location:191278
    Blast Score: 181
    I-set; Immunoglobulin I-set domain
    pfam07714
    Location:509785
    Blast Score: 1088
    Pkinase_Tyr; Protein tyrosine kinase
  6. NM_015850.3NP_056934.2  fibroblast growth factor receptor 1 isoform 2 precursor

    See proteins identical to NP_056934.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The resulting isoform (2), also known as isoform A, III, and the 3-Ig domain form, lacks a 2-aa segment, compared to isoform 1. Both variants 2 and 12 encode the same isoform.
    Source sequence(s)
    AC087623, AK130555, AK222718, AW206093, BC018128, BQ774633, CX757985
    Consensus CDS
    CCDS43732.1
    UniProtKB/Swiss-Prot
    P11362
    Related
    ENSP00000380280, OTTHUMP00000190874, ENST00000397091, OTTHUMT00000304010
    Conserved Domains (8) summary
    cd05098
    Location:457763
    Blast Score: 1761
    PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
    cd04973
    Location:40118
    Blast Score: 395
    Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd04974
    Location:268357
    Blast Score: 490
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:161245
    Blast Score: 474
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00408
    Location:47108
    Blast Score: 156
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:260356
    Blast Score: 176
    IG_like; Immunoglobulin like
    pfam07679
    Location:158245
    Blast Score: 181
    I-set; Immunoglobulin I-set domain
    pfam07714
    Location:476752
    Blast Score: 1089
    Pkinase_Tyr; Protein tyrosine kinase
  7. NM_023105.2NP_075593.1  fibroblast growth factor receptor 1 isoform 3 precursor

    See proteins identical to NP_075593.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon, compared to variant 1. The resulting isoform (3), also known as isoform Beta A1, II, H2, and the 2-Ig Domain+2 AA insert form, lacks the first Ig domain, compared to isoform 1. Both variants 3 and 13 encode the same isoform.
    Source sequence(s)
    AC087623, AK130555, AW206093, BC018128, BQ774633, CX756209, CX757985, M34185
    Consensus CDS
    CCDS43730.1
    UniProtKB/Swiss-Prot
    P11362
    Conserved Domains (6) summary
    cd05098
    Location:370676
    Blast Score: 1754
    PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
    cd04974
    Location:181270
    Blast Score: 491
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:74158
    Blast Score: 472
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00410
    Location:173269
    Blast Score: 177
    IG_like; Immunoglobulin like
    pfam07679
    Location:71158
    Blast Score: 183
    I-set; Immunoglobulin I-set domain
    pfam07714
    Location:389665
    Blast Score: 1082
    Pkinase_Tyr; Protein tyrosine kinase
  8. NM_023106.2NP_075594.1  fibroblast growth factor receptor 1 isoform 4 precursor

    See proteins identical to NP_075594.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon and uses a different in-frame splice junction compared to variant 1. This variant encodes isoform 4, also known as isoform I, H3, and the 2-Ig Domain form, which is 91 aa shorter than isoform 1.
    Source sequence(s)
    AC087623, AK130555, AW206093, BC091494, BQ774633, CX757985, M37722
    Consensus CDS
    CCDS43731.1
    UniProtKB/Swiss-Prot
    P11362
    Conserved Domains (6) summary
    cd05098
    Location:368674
    Blast Score: 1754
    PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
    cd04974
    Location:179268
    Blast Score: 491
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:72156
    Blast Score: 472
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00410
    Location:171267
    Blast Score: 177
    IG_like; Immunoglobulin like
    pfam07679
    Location:69156
    Blast Score: 183
    I-set; Immunoglobulin I-set domain
    pfam07714
    Location:387663
    Blast Score: 1083
    Pkinase_Tyr; Protein tyrosine kinase
  9. NM_023110.2NP_075598.2  fibroblast growth factor receptor 1 isoform 1 precursor

    See proteins identical to NP_075598.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1), also known as isoform Alpha A1, IV and the 3-Ig domain+2 AA insert form.
    Source sequence(s)
    AC087623, AK130555, AW206093, BC018128, BQ774633, CX757985, X66945
    Consensus CDS
    CCDS6107.2
    UniProtKB/Swiss-Prot
    P11362
    Related
    ENSP00000400162, ENST00000447712
    Conserved Domains (8) summary
    cd05098
    Location:459765
    Blast Score: 1759
    PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
    cd04973
    Location:40118
    Blast Score: 396
    Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd04974
    Location:270359
    Blast Score: 490
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:163247
    Blast Score: 474
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00408
    Location:47108
    Blast Score: 156
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:262358
    Blast Score: 176
    IG_like; Immunoglobulin like
    pfam07679
    Location:160247
    Blast Score: 182
    I-set; Immunoglobulin I-set domain
    pfam07714
    Location:478754
    Blast Score: 1088
    Pkinase_Tyr; Protein tyrosine kinase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000008.11 

    Range
    38411138..38468834
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006716313.1XP_006716376.1  

    See proteins identical to XP_006716376.1

    Conserved Domains (6) summary
    cd05098
    Location:368673
    Blast Score: 1751
    PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
    cd04974
    Location:179268
    Blast Score: 492
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:72156
    Blast Score: 470
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00410
    Location:171267
    Blast Score: 177
    IG_like; Immunoglobulin like
    pfam07679
    Location:69156
    Blast Score: 183
    I-set; Immunoglobulin I-set domain
    pfam07714
    Location:387663
    Blast Score: 1082
    Pkinase_Tyr; Protein tyrosine kinase
  2. XM_006716310.1XP_006716373.1  

    See proteins identical to XP_006716373.1

    Conserved Domains (6) summary
    cd05098
    Location:370675
    Blast Score: 1751
    PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
    cd04974
    Location:181270
    Blast Score: 492
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:74158
    Blast Score: 470
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00410
    Location:173269
    Blast Score: 177
    IG_like; Immunoglobulin like
    pfam07679
    Location:71158
    Blast Score: 183
    I-set; Immunoglobulin I-set domain
    pfam07714
    Location:389665
    Blast Score: 1082
    Pkinase_Tyr; Protein tyrosine kinase
  3. XM_006716306.1XP_006716369.1  

    See proteins identical to XP_006716369.1

    Conserved Domains (8) summary
    cd05098
    Location:457762
    Blast Score: 1756
    PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
    cd04973
    Location:40118
    Blast Score: 397
    Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd04974
    Location:268357
    Blast Score: 491
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:161245
    Blast Score: 472
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00408
    Location:47108
    Blast Score: 156
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:260356
    Blast Score: 176
    IG_like; Immunoglobulin like
    pfam07679
    Location:158245
    Blast Score: 182
    I-set; Immunoglobulin I-set domain
    pfam07714
    Location:476752
    Blast Score: 1087
    Pkinase_Tyr; Protein tyrosine kinase
  4. XM_006716308.1XP_006716371.1  

    Conserved Domains (8) summary
    cd05098
    Location:457762
    Blast Score: 1756
    PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
    cd04973
    Location:40118
    Blast Score: 397
    Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd04974
    Location:270359
    Blast Score: 491
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:163247
    Blast Score: 472
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00408
    Location:47108
    Blast Score: 156
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:262358
    Blast Score: 176
    IG_like; Immunoglobulin like
    pfam07679
    Location:160247
    Blast Score: 182
    I-set; Immunoglobulin I-set domain
    pfam07714
    Location:476752
    Blast Score: 1086
    Pkinase_Tyr; Protein tyrosine kinase
  5. XM_006716303.1XP_006716366.1  

    See proteins identical to XP_006716366.1

    Conserved Domains (8) summary
    cd05098
    Location:459764
    Blast Score: 1756
    PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
    cd04973
    Location:40118
    Blast Score: 397
    Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd04974
    Location:270359
    Blast Score: 491
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:163247
    Blast Score: 472
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00408
    Location:47108
    Blast Score: 156
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:262358
    Blast Score: 176
    IG_like; Immunoglobulin like
    pfam07679
    Location:160247
    Blast Score: 182
    I-set; Immunoglobulin I-set domain
    pfam07714
    Location:478754
    Blast Score: 1086
    Pkinase_Tyr; Protein tyrosine kinase
  6. XM_006716307.1XP_006716370.1  

    See proteins identical to XP_006716370.1

    Conserved Domains (8) summary
    cd05098
    Location:457762
    Blast Score: 1756
    PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
    cd04973
    Location:40118
    Blast Score: 397
    Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd04974
    Location:268357
    Blast Score: 491
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:161245
    Blast Score: 472
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00408
    Location:47108
    Blast Score: 156
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:260356
    Blast Score: 176
    IG_like; Immunoglobulin like
    pfam07679
    Location:158245
    Blast Score: 182
    I-set; Immunoglobulin I-set domain
    pfam07714
    Location:476752
    Blast Score: 1087
    Pkinase_Tyr; Protein tyrosine kinase
  7. XM_006716304.1XP_006716367.1  

    See proteins identical to XP_006716367.1

    Conserved Domains (8) summary
    cd05098
    Location:459764
    Blast Score: 1756
    PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
    cd04973
    Location:40118
    Blast Score: 397
    Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd04974
    Location:270359
    Blast Score: 491
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:163247
    Blast Score: 472
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00408
    Location:47108
    Blast Score: 156
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:262358
    Blast Score: 176
    IG_like; Immunoglobulin like
    pfam07679
    Location:160247
    Blast Score: 182
    I-set; Immunoglobulin I-set domain
    pfam07714
    Location:478754
    Blast Score: 1086
    Pkinase_Tyr; Protein tyrosine kinase
  8. XM_006716314.1XP_006716377.1  

    See proteins identical to XP_006716377.1

    Conserved Domains (6) summary
    cd05098
    Location:368673
    Blast Score: 1751
    PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
    cd04974
    Location:179268
    Blast Score: 492
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:72156
    Blast Score: 470
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00410
    Location:171267
    Blast Score: 177
    IG_like; Immunoglobulin like
    pfam07679
    Location:69156
    Blast Score: 183
    I-set; Immunoglobulin I-set domain
    pfam07714
    Location:387663
    Blast Score: 1082
    Pkinase_Tyr; Protein tyrosine kinase
  9. XM_006716311.1XP_006716374.1  

    See proteins identical to XP_006716374.1

    Conserved Domains (6) summary
    cd05098
    Location:370675
    Blast Score: 1751
    PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
    cd04974
    Location:181270
    Blast Score: 492
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:74158
    Blast Score: 470
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00410
    Location:173269
    Blast Score: 177
    IG_like; Immunoglobulin like
    pfam07679
    Location:71158
    Blast Score: 183
    I-set; Immunoglobulin I-set domain
    pfam07714
    Location:389665
    Blast Score: 1082
    Pkinase_Tyr; Protein tyrosine kinase
  10. XM_006716305.1XP_006716368.1  

    See proteins identical to XP_006716368.1

    Conserved Domains (8) summary
    cd05098
    Location:459764
    Blast Score: 1756
    PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
    cd04973
    Location:40118
    Blast Score: 397
    Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd04974
    Location:270359
    Blast Score: 491
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:163247
    Blast Score: 472
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00408
    Location:47108
    Blast Score: 156
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:262358
    Blast Score: 176
    IG_like; Immunoglobulin like
    pfam07679
    Location:160247
    Blast Score: 182
    I-set; Immunoglobulin I-set domain
    pfam07714
    Location:478754
    Blast Score: 1086
    Pkinase_Tyr; Protein tyrosine kinase
  11. XM_006716312.1XP_006716375.1  

    See proteins identical to XP_006716375.1

    Conserved Domains (6) summary
    cd05098
    Location:370675
    Blast Score: 1751
    PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
    cd04974
    Location:181270
    Blast Score: 492
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:74158
    Blast Score: 470
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00410
    Location:173269
    Blast Score: 177
    IG_like; Immunoglobulin like
    pfam07679
    Location:71158
    Blast Score: 183
    I-set; Immunoglobulin I-set domain
    pfam07714
    Location:389665
    Blast Score: 1082
    Pkinase_Tyr; Protein tyrosine kinase
  12. XM_006716309.1XP_006716372.1  

    Conserved Domains (8) summary
    cd05098
    Location:451756
    Blast Score: 1756
    PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
    cd04973
    Location:32110
    Blast Score: 398
    Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd04974
    Location:262351
    Blast Score: 492
    Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
    cd05857
    Location:155239
    Blast Score: 472
    Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
    smart00408
    Location:39100
    Blast Score: 157
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:254350
    Blast Score: 177
    IG_like; Immunoglobulin like
    pfam07679
    Location:152239
    Blast Score: 183
    I-set; Immunoglobulin I-set domain
    pfam07714
    Location:470746
    Blast Score: 1086
    Pkinase_Tyr; Protein tyrosine kinase

Alternate HuRef

Genomic

  1. AC_000140.1 

    Range
    36802638..36860684
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 

    Range
    38470562..38528261
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_023107.2: Suppressed sequence

    Description
    NM_023107.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  2. NM_023108.2: Suppressed sequence

    Description
    NM_023108.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  3. NM_023109.1: Suppressed sequence

    Description
    NM_023109.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  4. NM_023111.2: Suppressed sequence

    Description
    NM_023111.2: This RefSeq was permanently suppressed because it represents a poorly supported variant with non-consensus splice sites.
  5. NM_032191.1: Suppressed sequence

    Description
    NM_032191.1: This RefSeq was permanently suppressed because it contains the wrong CDS.

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