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    FGFR1 fibroblast growth factor receptor 1 [ Homo sapiens ]

    Gene ID: 2260, updated on 21-Feb-2012

    Summary

    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; OGD; FLT2; KAL2; BFGFR; CD331; FGFBR; FLT-2; HBGFR; N-SAM; FGFR-1; 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]

    Genomic context

    Location :
    8p12
    Sequence :
    Chromosome: 8; NC_000008.10 (38268656..38326352, complement)
    See FGFR1 in Epigenomics, MapViewer

    Chromosome 8 - NC_000008.10Genomic Context describing neighboring genes Neighboring gene Wolf-Hirschhorn syndrome candidate 1-like 1 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 pseudogene 1

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Phenotypes

    Antley-Bixler syndrome

    Hypogonadotropic hypogonadism

    Jackson-Weiss syndrome

    Kallmann syndrome 2

    Summary from GeneReviews Go to GeneReview

    Disease Characteristics
    Kallmann syndrome (KS) is characterized by the association of isolated GnRH deficiency (IGD) and anosmia (absent sense of smell). Infant boys often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with KS tend to have pre-pubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, decreased bone densities, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Body habitus is usually eunuchoidal with arm span exceeding height by 5 cm or more. Although skeletal maturation is delayed, the rate of linear growth is usually normal (except for the absence of a distinct pubertal growth spurt). Individuals with anosmia may or may not be aware of their olfactory deficiency. Additional non-reproductive findings can include synkinesia of the digits, unilateral renal agenesis, sensorineural hearing loss, cleft lip and/or palate, agenesis of one or more teeth, brachydactyly, syndactyly, and agenesis of the corpus callosum.
    Diagnosis Testing
    The diagnosis of KS in adults is based on clinical findings, low or normal serum concentration of LH (luteinizing hormone) and FSH (follicle stimulating hormone) in the face of low circulating concentrations of sex steroids, normal pituitary and hypothalamus on MRI, and absence of other hypothalamic or pituitary abnormalities. Six genes have been definitely proven to be associated with KS to date: KAL1 (KS1), FGFR1 (KS2), PROKR2 (KS3), PROK2 (KS4), CHD7 (KS5), and FGF8 (KS6). Together, mutations in these six genes account for about 25%-35% of all KS. Deletion of KAL1 by FISH or array GH (genomic hybridization) is an extremely rare cause of KS. Sequence analysis of KAL1 can identify KAL1 point mutations in 5%-10% of familial and simplex cases (i.e., a single occurrence in a family). Approximately 10% of individuals with KS have mutations in FGFR1, approximately 5% in PROKR2 or CHD7, and fewer than 5% in FGF8 or PROK2. Testing for KAL1, FGFR1, PROKR2, PROK2, and FGF8 is available on a clinical basis.
    Genetic Counseling
    KS1, caused by mutations in KAL1, is inherited in an X-linked manner. KS2 (FGFR1), KS3 (PROKR2), KS4 (PROK2), KS5 (CHD7), and KS6 (FGF8) are predominantly inherited in an autosomal dominant manner. KS3 (PROKR2) and KS4 (PROK2) can also be inherited in autosomal recessive manner. The mode of inheritance is often unclear within families and is likely to be dependent on mutation of more than one gene (i.e., digenic inheritance). Carrier testing for relatives at risk for X-linked and autosomal recessive KS and prenatal testing for pregnancies at increased risk for Kallmann syndrome1, 2, 3, 4, 5, or 6 (caused by mutations in KAL1, FGFR1, PROKR2, PROK2, CHD7, and FGF8 respectively) are possible if the disease-causing mutation has been identified in an affected relative.
    References

    Osteoglophonic dysplasia

    Pfeiffer syndrome

    Trigonocephaly

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_000595.1 NP_006644.1 FRS3    BIND  PubMed FGFR1 interacts with FRS2-beta. 
    NP_056934.2 NP_003019.1 SHB    BIND  PubMed Shb interacts with FGFR1 
    P11362 Q12982 BNIP2    HPRD  PubMed  
    P11362 Q92793 CREBBP    HPRD  PubMed  
    P11362 P46108 CRK    HPRD  PubMed  
    P11362 P54764 EPHA4    HPRD  PubMed  
    P11362 P14324 FDPS    HPRD  PubMed  
    P11362 P05230 FGF1    HPRD  PubMed  
    P11362 O60258 FGF17    HPRD  PubMed  
    P11362 O76093 FGF18    HPRD  PubMed  
    P11362 P09038 FGF2    HPRD  PubMed  
    P11362 P11487 FGF3    HPRD  PubMed  
    P11362 P08620 FGF4    HPRD  PubMed  
    P11362 P12034 FGF5    HPRD  PubMed  
    P11362 P10767 FGF6    HPRD  PubMed  
    P11362 P21781 FGF7    HPRD  PubMed  
    P11362 P55075 FGF8    HPRD  PubMed  
    P11362 P31371 FGF9    HPRD  PubMed  
    P11362 P11362 FGFR1    HPRD  PubMed  
    P11362 Q9NZU0 FLRT3    HPRD  PubMed  
    P11362 Q8WU20 FRS2    HPRD  PubMed  
    P11362 O43559 FRS3    HPRD  PubMed  
    P11362 Q14449 GRB14    HPRD  PubMed  
    P11362 P62993 GRB2    HPRD  PubMed  
    P11362 Q8NFM7 IL17RD    HPRD  PubMed  
    P11362 Q14974 KPNB1    HPRD  PubMed  
    P11362 P08253 MMP2    HPRD  PubMed  
    P11362 P13591 NCAM1    HPRD  PubMed  
    P11362 O43639 NCK2    HPRD  PubMed  
    P11362 O14786 NRP1    HPRD  PubMed  
    P11362 P27986 PIK3R1    HPRD  PubMed  
    P11362 O00459 PIK3R2    HPRD  PubMed  
    P11362 P19174 PLCG1    HPRD  PubMed  
    P11362 Q15418 RPS6KA1    HPRD  PubMed  
    P11362 O95197 RTN3    HPRD  PubMed  
    P11362 P78314 SH3BP2    HPRD  PubMed  
    P11362 P29353 SHC1    HPRD  PubMed  
    P11362 Q13239 SLA    HPRD  PubMed  
    P11362 Q07889 SOS1    HPRD  PubMed  
    P11362 Tensin like C1 domain containing phosphatase (tensin 2) TENC1    HPRD  PubMed  
    BioGRID:108551 BioGRID:107131 BNIP2    BioGRID  PubMed Biochemical Activity 
    BioGRID:108551 BioGRID:107777 CREBBP    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108551 BioGRID:108517 FDPS    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:108551 BioGRID:108537 FGF1    BioGRID  PubMed Co-crystal Structure; Reconstituted Complex 
    BioGRID:108551 BioGRID:108538 FGF2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108551 BioGRID:108551 FGFR1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108551 BioGRID:116031 FRS2    BioGRID  PubMed Affinity Capture-Western; Co-crystal Structure; Reconstituted Complex; Two-hybrid 
    BioGRID:108551 BioGRID:116030 FRS3    BioGRID  PubMed Two-hybrid 
    BioGRID:108551 BioGRID:109145 GRB14    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:108551 BioGRID:109920 JAK2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108551 BioGRID:110035 KPNB1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108551 BioGRID:110764 NCAM1    BioGRID  PubMed Affinity Capture-Western 
    NP_003572.2 NCK2    BIND  PubMed An unspecified isoform of FGFR1 interacts with NCK2. This interaction was modeled on a demonstrated interaction between FGFR1 from an unspecified species and human NCK2. 
    BioGRID:108551 BioGRID:110811 NEDD4    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    NP_005018.1 PIK3R2    BIND  PubMed An unspecified isoform of FGFR1 interacts with p85-beta. This interaction was modeled on a demonstrated interaction between FGFR1 from an unspecified species and human p85-beta. 
    NP_002651.2 PLCG1    BIND  PubMed An unspecified isoform of FGFR1 interacts with PLC-gamma. This interaction was modeled on a demonstrated interaction between FGFR1 from an unspecified species and human PLC-gamma. 
    BioGRID:108551 BioGRID:111351 PLCG1    BioGRID  PubMed Two-hybrid 
    BioGRID:108551 BioGRID:111511 PPP2R1B    BioGRID  PubMed Affinity Capture-MS 
    AAC82497.1 RPS6KA1    BIND  PubMed FGFR1 interacts with RSK1. This interaction was modeled on a demonstrated interaction between FGFR1 from an unspecified species and human RSK1. 
    NP_996734.1 RTN1    BIND  PubMed An unspecified isoform of FGFR1 interacts with RTN1. This interaction was modeled on a demonstrated interaction between FGFR1 from an unspecified species and human RTN1. 
    NP_006045.1 RTN3    BIND  PubMed An unspecified isoform of FGFR1 interacts with RTN3. This interaction was modeled on a demonstrated interaction between FGFR1 from an unspecified species and human RTN3. 
    NP_003014.2 SH3BP2    BIND  PubMed An unspecified isoform of FGFR1 interacts with SH3BP2. This interaction was modeled on a demonstrated interaction between FGFR1 from an unspecified species and human SH3BP2. 
    BioGRID:108551 BioGRID:112358 SHB    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    NP_006739.1 SLA    BIND  PubMed An unspecified isoform of FGFR1 interacts with SLAP. This interaction was modeled on a demonstrated interaction between FGFR1 from an unspecified species and human SLAP. 
    BioGRID:108551 BioGRID:112592 SRC    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108551 BioGRID:112651 STAT3    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BAA83027.2 TENC1    BIND  PubMed An unspecified isoform of FGFR1 interacts with KIAA1075. This interaction was modeled on a demonstrated interaction between FGFR1 from an unspecified species and human KIAA1075. 
    BioGRID:108551 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-Western 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • 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...
    • 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...
    • 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...
    • Glypican 1 network, organism-specific biosystem (from Pathway Interaction Database)
      Glypican 1 network, organism-specific biosystem
      Glypican 1 network
    • 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...
    • 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 ...
    • 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...
    • 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...
    • 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
    • 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...
    • Regulation of Actin Cytoskeleton, organism-specific biosystem (from WikiPathways)
      Regulation of Actin Cytoskeleton, organism-specific biosystem
      Regulation of Actin Cytoskeleton
    • 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
    • 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 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 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...
    • 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

    Clone Names

    • FLJ99988

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    fibroblast growth factor 1 binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    protein tyrosine kinase activity TAS
    Traceable Author Statement
    more info
     
    receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    MAPK cascade TAS
    Traceable Author Statement
    more info
    PubMed 
    axon guidance TAS
    Traceable Author Statement
    more info
     
    cell migration TAS
    Traceable Author Statement
    more info
    PubMed 
    chordate embryonic development TAS
    Traceable Author Statement
    more info
    PubMed 
    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
     
    insulin receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    neuron migration TAS
    Traceable Author Statement
    more info
    PubMed 
    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 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 neuron differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of phosphatidylinositol 3-kinase cascade 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 cell differentiation TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of transcription, DNA-dependent 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 
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    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 to membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    integral to 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
     

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    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 RefSeqGene

      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

      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 (6) summary
      cd05098
      Location:457763
      Blast Score: 1694
      PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
      cd04973
      Location:40118
      Blast Score: 306
      Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:163247
      Blast Score: 456
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:270359
      Blast Score: 483
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      pfam07679
      Location:160247
      Blast Score: 181
      I-set; Immunoglobulin I-set domain
      pfam07714
      Location:476752
      Blast Score: 1066
      Pkinase_Tyr; Protein tyrosine kinase
    2. NM_001174064.1NP_001167535.1  fibroblast growth factor receptor 1 isoform 11 precursor

      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
      Related
      ENSP00000337247, OTTHUMP00000190876, ENST00000335922, OTTHUMT00000304012
      Conserved Domains (6) summary
      cd05098
      Location:449755
      Blast Score: 1694
      PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
      cd04973
      Location:32110
      Blast Score: 306
      Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:155239
      Blast Score: 456
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:262351
      Blast Score: 485
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      pfam07679
      Location:152239
      Blast Score: 182
      I-set; Immunoglobulin I-set domain
      pfam07714
      Location:468744
      Blast Score: 1066
      Pkinase_Tyr; Protein tyrosine kinase
    3. NM_001174065.1NP_001167536.1  fibroblast growth factor receptor 1 isoform 2 precursor

      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
      Related
      ENSP00000380302, OTTHUMP00000190881, ENST00000397113, OTTHUMT00000304021
      Conserved Domains (6) summary
      cd05098
      Location:457763
      Blast Score: 1695
      PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
      cd04973
      Location:40118
      Blast Score: 305
      Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:161245
      Blast Score: 456
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:268357
      Blast Score: 483
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      pfam07679
      Location:158245
      Blast Score: 181
      I-set; Immunoglobulin I-set domain
      pfam07714
      Location:476752
      Blast Score: 1068
      Pkinase_Tyr; Protein tyrosine kinase
    4. NM_001174066.1NP_001167537.1  fibroblast growth factor receptor 1 isoform 3 precursor

      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
      Related
      ENSP00000380292, OTTHUMP00000190880, ENST00000397103, OTTHUMT00000304020
      Conserved Domains (5) summary
      cd05098
      Location:370676
      Blast Score: 1689
      PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
      cd05857
      Location:74158
      Blast Score: 455
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:181270
      Blast Score: 485
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      pfam07679
      Location:71158
      Blast Score: 183
      I-set; Immunoglobulin I-set domain
      pfam07714
      Location:389665
      Blast Score: 1061
      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 (6) summary
      cd05098
      Location:490796
      Blast Score: 1696
      PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
      cd04973
      Location:73151
      Blast Score: 305
      Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:194278
      Blast Score: 456
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:301390
      Blast Score: 483
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      pfam07679
      Location:191278
      Blast Score: 181
      I-set; Immunoglobulin I-set domain
      pfam07714
      Location:509785
      Blast Score: 1067
      Pkinase_Tyr; Protein tyrosine kinase
    6. NM_015850.3NP_056934.2  fibroblast growth factor receptor 1 isoform 2 precursor

      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 (6) summary
      cd05098
      Location:457763
      Blast Score: 1695
      PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
      cd04973
      Location:40118
      Blast Score: 305
      Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:161245
      Blast Score: 456
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:268357
      Blast Score: 483
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      pfam07679
      Location:158245
      Blast Score: 181
      I-set; Immunoglobulin I-set domain
      pfam07714
      Location:476752
      Blast Score: 1068
      Pkinase_Tyr; Protein tyrosine kinase
    7. NM_023105.2NP_075593.1  fibroblast growth factor receptor 1 isoform 3 precursor

      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
      Related
      ENSP00000348537, OTTHUMP00000190877, ENST00000356207, OTTHUMT00000304013
      Conserved Domains (5) summary
      cd05098
      Location:370676
      Blast Score: 1689
      PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
      cd05857
      Location:74158
      Blast Score: 455
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:181270
      Blast Score: 485
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      pfam07679
      Location:71158
      Blast Score: 183
      I-set; Immunoglobulin I-set domain
      pfam07714
      Location:389665
      Blast Score: 1061
      Pkinase_Tyr; Protein tyrosine kinase
    8. NM_023106.2NP_075594.1  fibroblast growth factor receptor 1 isoform 4 precursor

      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
      Related
      ENSP00000327229, OTTHUMP00000190879, ENST00000326324, OTTHUMT00000304017
      Conserved Domains (5) summary
      cd05098
      Location:368674
      Blast Score: 1689
      PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
      cd05857
      Location:72156
      Blast Score: 455
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:179268
      Blast Score: 484
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      pfam07679
      Location:69156
      Blast Score: 183
      I-set; Immunoglobulin I-set domain
      pfam07714
      Location:387663
      Blast Score: 1062
      Pkinase_Tyr; Protein tyrosine kinase
    9. NM_023110.2NP_075598.2  fibroblast growth factor receptor 1 isoform 1 precursor

      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 (6) summary
      cd05098
      Location:459765
      Blast Score: 1695
      PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
      cd04973
      Location:40118
      Blast Score: 305
      Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:163247
      Blast Score: 456
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:270359
      Blast Score: 483
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      pfam07679
      Location:160247
      Blast Score: 181
      I-set; Immunoglobulin I-set domain
      pfam07714
      Location:478754
      Blast Score: 1067
      Pkinase_Tyr; Protein tyrosine kinase

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000008.10 Reference GRCh37.p5 Primary Assembly

      Range
      38268656..38326352, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000140.1 Alternate HuRef

      Range
      36802638..36860684, complement
      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.

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic A29216.1 CAA01958.1
    genomic AC087623.21 (43489..44202) None
    genomic AY585209.1 AAS79322.1
    genomic CH471080.2 EAW63303.1
      EAW63304.1
      EAW63305.1
      EAW63306.1
      EAW63307.1
      EAW63308.1
      EAW63309.1
      EAW63310.1
      EAW63311.1
      EAW63312.1
      EAW63313.1
      EAW63314.1
      EAW63315.1
      EAW63316.1
    mRNA AB208919.1 BAD92156.1
    mRNA AF173898.1 AAQ13645.1
    mRNA AK001052.1 None
    mRNA AK024388.1 None
    mRNA AK094303.1 None
    mRNA AK130555.1 None
    mRNA AK222718.1 BAD96438.1
    mRNA AK223126.1 BAD96846.1
    mRNA AK291754.1 BAF84443.1
    mRNA AK292470.1 BAF85159.1
    mRNA AK309947.1 None
    mRNA AW206093.1 None
    mRNA BC015035.1 AAH15035.1
    mRNA BC018128.1 AAH18128.1
    mRNA BC091494.1 AAH91494.1
    mRNA BQ774633.1 None
    mRNA BX649167.1 None
    mRNA CX756209.1 None
    mRNA CX757985.1 None
    mRNA DB300904.1 None
    mRNA EF525171.1 None
    mRNA EU826596.1 ACF47632.1
    mRNA EU826597.1 ACF47633.1
    mRNA FJ809916.1 ACO38645.1
    mRNA FJ809917.1 ACO38646.1
    mRNA M34185.1 AAA35836.1
    mRNA M34186.1 AAA35837.1
    mRNA M34187.1 AAA35838.1
    mRNA M34188.1 AAA35839.1
    mRNA M34641.1 AAA35835.1
    mRNA M37722.1 AAA75007.1
    mRNA M60485.1 AAA35840.1
    mRNA M63887.1 AAA35958.1
    mRNA M63888.1 AAA35959.1
    mRNA M63889.1 AAA35960.1
    mRNA S76658.1 AAD14230.1
    mRNA X51803.1 CAA36101.1
    mRNA X52833.1 CAA37015.1
    mRNA X57118.1 CAA40400.1
    mRNA X57119.1 CAA40401.1
    mRNA X57120.1 CAA40402.1
    mRNA X57121.1 CAA40403.1
    mRNA X57122.1 CAA40404.1
    mRNA X66945.1 CAA47375.1
    mRNA Y00665.1 CAA68679.1
    other-genetic DQ894999.2 ABM85925.1
    Protein Accession Links
    GenePept Link UniProtKB Link
    P11362.3 GenPept UniProtKB/Swiss-Prot:P11362
    Q53G05 GenPept UniProtKB/TrEMBL:Q53G05
    Q7Z2S2 GenPept UniProtKB/TrEMBL:Q7Z2S2

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