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

Gene ID: 2260, updated on 22-May-2013

Summary

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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; 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

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Location :: 8p12

Sequence :: Chromosome: 8; NC_000008.10 (38268656..38326352, complement)

See FGFR1 in Epigenomics, MapViewer

Chromosome 8 - NC_000008.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

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Go to reference sequence details

Bibliography

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

FGFR1 amplification is much more common in squamous cell lung cancers (21%) than in lung adenocarcinoma (3.4%). Survival of FGFR1-amplified lung cancer cell lines was additionally shown to be dependent on overexpression of the FGFR1 kinase.
Title: New targetable oncogenes in non-small-cell lung cancer.
Upregulation of FGFR1 is associated with gastric cancer.
Title: miR-133b acts as a tumor suppressor and negatively regulates FGFR1 in gastric cancer.
FGFR1 amplification is associated with squamous cell carcinoma of the lung.
Title: FGFR1 amplification in squamous cell carcinoma of the lung.
2 patients with congenital isolated hypogonadotropic hypogonadism were found to have mutations in FGFR1 (R254W and R254Q); both are loss-of-function mutations demonstrated by their reduced overall and cell surface expression suggesting a deleterious effect on receptor folding and stability
Title: Comparative functional analysis of two fibroblast growth factor receptor 1 (FGFR1) mutations affecting the same residue (R254W and R254Q) in isolated hypogonadotropic hypogonadism (IHH).
Conclude that FGFR1 amplification is one of the most frequent therapeutically tractable genetic lesions in pulmonary carcinomas.
Title: Definition of a fluorescence in-situ hybridization score identifies high- and low-level FGFR1 amplification types in squamous cell lung cancer.
Data indicate that FGFR1 amplification is an independent negative prognostic factor in surgically resected squamous cell carcinoma of the lung (SCCL) and is associated with cigarette smoking in a dose-dependent manner.
Title: Fibroblast growth factor receptor 1 gene amplification is associated with poor survival and cigarette smoking dosage in patients with resected squamous cell lung cancer.
Data suggest for therapeutic targeting of the FGF-2/FGFR1/CEP57 axis in prostate cancer.
Title: FGF-2 disrupts mitotic stability in prostate cancer through the intracellular trafficking protein CEP57.
A novel mRNA in-frame fusion between exon 4 of the breakpoint cluster region (BCR) gene at chromosome 22q11 and exon 9 of FGFR1 gene on chromosome 8p11-12 was identified by reverse transcription polymerase chain reaction
Title: A case of 8p11 myeloproliferative syndrome with BCR-FGFR1 gene fusion presenting with trilineage acute leukemia/lymphoma, successfully treated by cord blood transplantation.
Targeting FGFR signaling is a promising new approach to treating aggressive prostate cancer
Title: Targeting fibroblast growth factor receptor signaling inhibits prostate cancer progression.
Fibroblast growth factor receptor 1 activation leads to induction of CX3CL1 in a tumor setting.
Title: Fibroblast growth factor receptor 1 activation in mammary tumor cells promotes macrophage recruitment in a CX3CL1-dependent manner.

Submit: New GeneRIF Correction See all (183)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Interfrontal craniofaciosynostosis

MIM: 190440

Genetic Testing Registry

The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.Pro250Arg mutation in FGFR3). Muenke syndrome and FGFR2-related isolated coronal synostosis are characterized only by uni- or bicoronal craniosynostosis; the remainder are characterized by bicoronal craniosynostosis or cloverleaf skull, distinctive facial features, and variable hand and foot findings.

Diagnosis Testing

The diagnosis of Muenke syndrome is based on identification of the p.Pro250Arg mutation in FGFR3; the diagnosis of FGFR2-related isolated coronal synostosis is based on identification of a FGFR2 disease-causing mutation. The diagnosis of the other six FGFR-related craniosynostosis syndromes is based on clinical findings; molecular genetic testing of FGFR1, FGFR2, and FGFR3 may be helpful in establishing the specific diagnosis in questionable cases.

Genetic Counseling

The FGFR-related craniosynostosis syndromes are inherited in an autosomal dominant manner. Affected individuals have a 50% chance of passing the disease-causing mutation to each child. Prenatal testing for pregnancies at increased risk is possible if the disease-causing mutation has been identified in the family; however, its use is limited by poor predictive value.

References

PMID: 20301628

Kallmann syndrome 2

MIM: 147950

Genetic Testing Registry

Summary from GeneReviews: Kallmann Syndrome

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 CMA (chromosomal microarray) 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.

Summary from GeneReviews: Craniosynostosis Syndromes, FGFR-Related

Disease Characteristics

Diagnosis Testing

Genetic Counseling

References

PMID: 20301628

Interactions

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Products	Interactant	Other Gene	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:121144	CTPS2	BioGRID	PubMed	Two-hybrid
BioGRID:108551	BioGRID:108377	ERBB3	BioGRID	PubMed	Protein-peptide
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:113748	FGF23	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108551	BioGRID:108551	FGFR1	BioGRID	PubMed	Biochemical Activity; 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:109552	HSP90AA1	BioGRID	PubMed	Affinity Capture-Luminescence
BioGRID:108551	BioGRID:109907	ITK	BioGRID	PubMed	Protein-peptide
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
BioGRID:108551	BioGRID:110770	NCK1	BioGRID	PubMed	Protein-peptide
	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; Biochemical Activity; 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
BioGRID:108551	BioGRID:111720	PTK6	BioGRID	PubMed	Protein-peptide
	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-MS; Affinity Capture-Western
BioGRID:108551	BioGRID:113252	VAV1	BioGRID	PubMed	Protein-peptide

Pathways from BioSystems

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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 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 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 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...
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...
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
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

General gene information

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Markers

D2S2823 (e-PCR)
- UniSTS:82184

RH70870 (e-PCR)
- UniSTS:33033

D11S2921 (e-PCR)
- UniSTS:152074

D8S2279 (e-PCR)
- UniSTS:473907

RH78260 (e-PCR)
- UniSTS:75606

D10S16 (e-PCR)
- UniSTS:155756

D15S1477 (e-PCR)
- UniSTS:474482

D1S1423 (e-PCR)
- UniSTS:149619

GDB:235795 (e-PCR)
- UniSTS:156275

RH16447 (e-PCR)
- UniSTS:25971

G35510 (e-PCR)
- UniSTS:44150

D8S135 (e-PCR)
- UniSTS:148617

RH48951 (e-PCR)
- UniSTS:26257

GDB:251744 (e-PCR)
- UniSTS:156316

PMC55319P1 (e-PCR)
- UniSTS:273319

SHGC-37155 (e-PCR)
- UniSTS:5043

MARC_14569-14570:1009480763:3 (e-PCR)
- UniSTS:267706

SHGC-32099 (e-PCR)
- UniSTS:13020

FGFR1_V35 (e-PCR)
- UniSTS:477414

G15900 (e-PCR)
- UniSTS:33267

Genotypes

See FGFR1 SNP Geneview Report
See FGFR1 SNP Genotype Report
See FGFR1 SNP Variation Viewer Report

Homology

Homologs of the FGFR1 gene: The FGFR1 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Clone Names

FLJ99988

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
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 apoptotic process	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 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 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 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-dependent	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 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

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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

EC 2.7.10.1

NP_001167535.1

EC 2.7.10.1

NP_001167536.1

EC 2.7.10.1

NP_001167537.1

EC 2.7.10.1

NP_001167538.1

EC 2.7.10.1

NP_056934.2

EC 2.7.10.1

NP_075593.1

EC 2.7.10.1

NP_075594.1

EC 2.7.10.1

NP_075598.2

EC 2.7.10.1

NCBI Reference Sequences (RefSeq)

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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

NG_007729.1 RefSeqGene

Range

5001..62697

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001174063.1 → NP_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:457 – 763
Blast Score: 1694

PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1

cd04973
Location:40 – 118
Blast Score: 306

Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)

cd05857
Location:163 – 247
Blast Score: 456

Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor

cd05858
Location:270 – 359
Blast Score: 483

Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)

pfam07679
Location:160 – 247
Blast Score: 181

I-set; Immunoglobulin I-set domain

pfam07714
Location:476 – 752
Blast Score: 1066

Pkinase_Tyr; Protein tyrosine kinase
NM_001174064.1 → NP_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

Conserved Domains (6) summary

cd05098
Location:449 – 755
Blast Score: 1694

PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1

cd04973
Location:32 – 110
Blast Score: 306

Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)

cd05857
Location:155 – 239
Blast Score: 456

Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor

cd05858
Location:262 – 351
Blast Score: 485

Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)

pfam07679
Location:152 – 239
Blast Score: 182

I-set; Immunoglobulin I-set domain

pfam07714
Location:468 – 744
Blast Score: 1066

Pkinase_Tyr; Protein tyrosine kinase
NM_001174065.1 → NP_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

Conserved Domains (6) summary

cd05098
Location:457 – 763
Blast Score: 1695

PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1

cd04973
Location:40 – 118
Blast Score: 305

Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)

cd05857
Location:161 – 245
Blast Score: 456

Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor

cd05858
Location:268 – 357
Blast Score: 483

Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)

pfam07679
Location:158 – 245
Blast Score: 181

I-set; Immunoglobulin I-set domain

pfam07714
Location:476 – 752
Blast Score: 1068

Pkinase_Tyr; Protein tyrosine kinase
NM_001174066.1 → NP_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

Conserved Domains (5) summary

cd05098
Location:370 – 676
Blast Score: 1689

PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1

cd05857
Location:74 – 158
Blast Score: 455

Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor

cd05858
Location:181 – 270
Blast Score: 485

Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)

pfam07679
Location:71 – 158
Blast Score: 183

I-set; Immunoglobulin I-set domain

pfam07714
Location:389 – 665
Blast Score: 1061

Pkinase_Tyr; Protein tyrosine kinase
NM_001174067.1 → NP_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:490 – 796
Blast Score: 1696

PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1

cd04973
Location:73 – 151
Blast Score: 305

Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)

cd05857
Location:194 – 278
Blast Score: 456

Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor

cd05858
Location:301 – 390
Blast Score: 483

Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)

pfam07679
Location:191 – 278
Blast Score: 181

I-set; Immunoglobulin I-set domain

pfam07714
Location:509 – 785
Blast Score: 1067

Pkinase_Tyr; Protein tyrosine kinase
NM_015850.3 → NP_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:457 – 763
Blast Score: 1695

PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1

cd04973
Location:40 – 118
Blast Score: 305

Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)

cd05857
Location:161 – 245
Blast Score: 456

Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor

cd05858
Location:268 – 357
Blast Score: 483

Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)

pfam07679
Location:158 – 245
Blast Score: 181

I-set; Immunoglobulin I-set domain

pfam07714
Location:476 – 752
Blast Score: 1068

Pkinase_Tyr; Protein tyrosine kinase
NM_023105.2 → NP_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

Conserved Domains (5) summary

cd05098
Location:370 – 676
Blast Score: 1689

PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1

cd05857
Location:74 – 158
Blast Score: 455

Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor

cd05858
Location:181 – 270
Blast Score: 485

Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)

pfam07679
Location:71 – 158
Blast Score: 183

I-set; Immunoglobulin I-set domain

pfam07714
Location:389 – 665
Blast Score: 1061

Pkinase_Tyr; Protein tyrosine kinase
NM_023106.2 → NP_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

Conserved Domains (5) summary

cd05098
Location:368 – 674
Blast Score: 1689

PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1

cd05857
Location:72 – 156
Blast Score: 455

Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor

cd05858
Location:179 – 268
Blast Score: 484

Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)

pfam07679
Location:69 – 156
Blast Score: 183

I-set; Immunoglobulin I-set domain

pfam07714
Location:387 – 663
Blast Score: 1062

Pkinase_Tyr; Protein tyrosine kinase
NM_023110.2 → NP_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:459 – 765
Blast Score: 1695

PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1

cd04973
Location:40 – 118
Blast Score: 305

Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)

cd05857
Location:163 – 247
Blast Score: 456

Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor

cd05858
Location:270 – 359
Blast Score: 483

Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)

pfam07679
Location:160 – 247
Blast Score: 181

I-set; Immunoglobulin I-set domain

pfam07714
Location:478 – 754
Blast Score: 1067

Pkinase_Tyr; Protein tyrosine kinase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000008.10 Reference GRCh37.p10 Primary Assembly

Range

38268656..38326352, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000140.1 Alternate HuRef

Range

36802638..36860684, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018919.1 Alternate CHM1_1.0

Range

38496250..38553944, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.
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.
NM_023109.1: Suppressed sequence

Description

NM_023109.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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.
NM_032191.1: Suppressed sequence

Description

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

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	A29216.1	CAA01958.1
genomic	ABBA01023532.1 (23053..39171)	None
genomic	ABBA01023533.1	None
genomic	AC087623.21 (43490..44203)	None
genomic	AMYH01018653.1 (335428..393122)	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