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

Summary

Official Symbol: FGFR1provided by HGNC
Official Full Name: fibroblast growth factor receptor 1provided by HGNC
Primary source: HGNC:HGNC:3688
See related: Ensembl:ENSG00000077782 MIM:136350; AllianceGenome:HGNC:3688
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; ECCL; FLT2; KAL2; BFGFR; CD331; FGFBR; FLT-2; HBGFR; N-SAM; FGFR-1; HRTFDS; bFGF-R-1
Summary: The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in ovary (RPKM 21.8), fat (RPKM 21.4) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 8p11.23

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (38411143..38468635, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (38688107..38745588, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (38268661..38326153, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

FUS-Mediated CircFGFR1 Accelerates the Development of Papillary Thyroid Carcinoma by Stabilizing FGFR1 Protein.
Title: FUS-Mediated CircFGFR1 Accelerates the Development of Papillary Thyroid Carcinoma by Stabilizing FGFR1 Protein.
Fibroblast growth receptor 1 is regulated by G-quadruplex in metastatic breast cancer.
Title: Fibroblast growth receptor 1 is regulated by G-quadruplex in metastatic breast cancer.
Identification of mechanism of the oncogenic role of FGFR1 in papillary thyroid carcinoma.
Title: Identification of mechanism of the oncogenic role of FGFR1 in papillary thyroid carcinoma.
Clinical manifestations and spermatogenesis outcomes in Chinese patients with congenital hypogonadotropic hypogonadism caused by inherited or de novo FGFR1 mutations.
Title: Clinical manifestations and spermatogenesis outcomes in Chinese patients with congenital hypogonadotropic hypogonadism caused by inherited or de novo FGFR1 mutations.
Additional mutation in PROKR2 and phenotypic differences in a Kallmann syndrome/normosmic congenital hypogonadotropic hypogonadism family carrying FGFR1 missense mutation.
Title: Additional mutation in PROKR2 and phenotypic differences in a Kallmann syndrome/normosmic congenital hypogonadotropic hypogonadism family carrying FGFR1 missense mutation.
Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations.
Title: Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations.
RAPID resistance to BET inhibitors is mediated by FGFR1 in glioblastoma.
Title: RAPID resistance to BET inhibitors is mediated by FGFR1 in glioblastoma.
Expression of fibroblast growth factor receptor 1 correlates inversely with the efficacy of single-agent fibroblast growth factor receptor-specific inhibitors in pancreatic cancer.
Title: Expression of fibroblast growth factor receptor 1 correlates inversely with the efficacy of single-agent fibroblast growth factor receptor-specific inhibitors in pancreatic cancer.
Clinicopathological analysis of rosette-forming glioneuronal tumors.
Title: Clinicopathological analysis of rosette-forming glioneuronal tumors.
Fibroblast growth factor receptor 1 inhibition suppresses pancreatic cancer chemoresistance and chemotherapy-driven aggressiveness.
Title: Fibroblast growth factor receptor 1 inhibition suppresses pancreatic cancer chemoresistance and chemotherapy-driven aggressiveness.

Submit: New GeneRIF Correction See all GeneRIFs (542)

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Encephalocraniocutaneous lipomatosis MedGen: C0406612 OMIM: 613001 GeneReviews: Encephalocraniocutaneous Lipomatosis	Compare labs
Hartsfield-Bixler-Demyer syndrome MedGen: C1845146 OMIM: 615465 GeneReviews: Holoprosencephaly Overview, FGFR1-Related Hartsfield Syndrome	Compare labs
Hypogonadotropic hypogonadism 2 with or without anosmia MedGen: C1563720 OMIM: 147950 GeneReviews: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency	Compare labs
Jackson-Weiss syndrome MedGen: C0795998 OMIM: 123150 GeneReviews: FGFR Craniosynostosis Syndromes Overview	Compare labs
Osteoglophonic dysplasia MedGen: C0432283 OMIM: 166250 GeneReviews: Osteoglophonic Dysplasia	Compare labs
Pfeiffer syndrome MedGen: C0220658 OMIM: 101600 GeneReviews: FGFR Craniosynostosis Syndromes Overview	Compare labs
Trigonocephaly 1 MedGen: C0432122 OMIM: 190440 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2021-04-05) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-04-05) ClinGen Genome Curation PagePubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

Replication interactions

Interaction	Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of FGFR1	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables SH2 domain binding	IEA Inferred from Electronic Annotation more info
enables fibroblast growth factor binding	IBA Inferred from Biological aspect of Ancestor more info
enables fibroblast growth factor binding	IDA Inferred from Direct Assay more info	PubMed
enables fibroblast growth factor receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables fibroblast growth factor receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables fibroblast growth factor receptor activity	TAS Traceable Author Statement more info	PubMed
enables heparin binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein tyrosine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables receptor-receptor interaction	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in MAPK cascade	TAS Traceable Author Statement more info	PubMed
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in auditory receptor cell development	IEA Inferred from Electronic Annotation more info
involved_in branching involved in salivary gland morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in calcium ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in cardiac muscle cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in cell maturation	IEA Inferred from Electronic Annotation more info
involved_in cell migration	TAS Traceable Author Statement more info	PubMed
involved_in cell projection assembly	IEA Inferred from Electronic Annotation more info
involved_in cell surface receptor protein tyrosine kinase signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to fibroblast growth factor stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cementum mineralization	IEA Inferred from Electronic Annotation more info
involved_in chondrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in chordate embryonic development	TAS Traceable Author Statement more info	PubMed
involved_in diphosphate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in embryonic limb morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in epithelial to mesenchymal transition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fibroblast growth factor receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within fibroblast growth factor receptor signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within fibroblast growth factor receptor signaling pathway	IPI Inferred from Physical Interaction more info	PubMed
involved_in fibroblast growth factor receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development	IEA Inferred from Electronic Annotation more info
involved_in gene expression	IEA Inferred from Electronic Annotation more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in inner ear morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in lung-associated mesenchyme development	IEA Inferred from Electronic Annotation more info
involved_in mesenchymal cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in midbrain development	IEA Inferred from Electronic Annotation more info
involved_in middle ear morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in multicellular organism development	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of fibroblast growth factor production	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in neuron migration	TAS Traceable Author Statement more info	PubMed
involved_in neuron projection development	IEA Inferred from Electronic Annotation more info
involved_in organ induction	IEA Inferred from Electronic Annotation more info
involved_in outer ear morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in paraxial mesoderm development	IEA Inferred from Electronic Annotation more info
involved_in peptidyl-tyrosine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in phosphatidylinositol-mediated signaling	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of MAP kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of MAPK cascade	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of blood vessel endothelial cell migration	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of cardiac muscle cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of cell population proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of endothelial cell chemotaxis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of mesenchymal cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of mitotic cell cycle DNA replication	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neuron projection development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of parathyroid hormone secretion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of phospholipase activity	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of stem cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of vascular endothelial cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in protein autophosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein phosphorylation	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell differentiation	TAS Traceable Author Statement more info	PubMed
involved_in regulation of lateral mesodermal cell fate specification	IEA Inferred from Electronic Annotation more info
involved_in regulation of phosphate transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of postsynaptic density assembly	IEA Inferred from Electronic Annotation more info
involved_in response to sodium phosphate	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of sound	IEA Inferred from Electronic Annotation more info
involved_in skeletal system development	TAS Traceable Author Statement more info	PubMed
involved_in skeletal system morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in stem cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in stem cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in ureteric bud development	IEA Inferred from Electronic Annotation more info
involved_in ventricular zone neuroblast division	IEA Inferred from Electronic Annotation more info
involved_in vitamin D3 metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynapse	IEA Inferred from Electronic Annotation more info
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of receptor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: fibroblast growth factor receptor 1

Names: FGFR1/PLAG1 fusion; FMS-like tyrosine kinase 2; basic fibroblast growth factor receptor 1; fms-related tyrosine kinase 2; heparin-binding growth factor receptor; hydroxyaryl-protein kinase; proto-oncogene c-Fgr

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_001341296.1

EC 2.7.10.1

NP_001341297.1

EC 2.7.10.1

NP_001341298.1

EC 2.7.10.1

NP_001341299.1

EC 2.7.10.1

NP_001397851.1

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)

Go to the top of the page Help

NEW Try the new Transcript table

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), LRG_993

mRNA and Protein(s)

NM_001174063.2 → 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/TrEMBL

A0A0S2Z3Q6, A0A1B0RPQ4

Related

ENSP00000432972.1, ENST00000532791.5

Conserved Domains (5) summary

cd04973
Location:40 → 118

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

cd05857
Location:163 → 247

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

cd05858
Location:270 → 359

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

cd05098
Location:462 → 763

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

pfam18123
Location:371 → 400

FGFR3_TM; Fibroblast growth factor receptor 3 transmembrane domain
NM_001174064.2 → 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/TrEMBL

A0A1B0RPQ4

Related

ENSP00000337247.5, ENST00000335922.9

Conserved Domains (7) summary

cd04973
Location:32 → 110

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

cd04974
Location:262 → 351

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

cd05857
Location:155 → 239

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

smart00410
Location:254 → 350

IG_like; Immunoglobulin like

pfam07679
Location:152 → 239

I-set; Immunoglobulin I-set domain

cd05098
Location:454 → 755

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

pfam07714
Location:468 → 744

Pkinase_Tyr; Protein tyrosine kinase
NM_001174065.2 → 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/TrEMBL

A0A1B0RPQ4

Related

ENSP00000380302.2, ENST00000397113.6

Conserved Domains (5) summary

cd04973
Location:40 → 118

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

cd05857
Location:161 → 245

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

cd05858
Location:268 → 357

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

cd05098
Location:462 → 763

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

pfam18123
Location:369 → 398

FGFR3_TM; Fibroblast growth factor receptor 3 transmembrane domain
NM_001174066.2 → 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/TrEMBL

E7EU09

Conserved Domains (5) summary

cd05098
Location:375 → 676

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

pfam18123
Location:282 → 311

FGFR3_TM; Fibroblast growth factor receptor 3 transmembrane domain

cd00096
Location:166 → 169

Ig; Ig strand A [structural motif]

cd05857
Location:64 → 158

IgI_2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor; member of the I-set of IgSF domains

cl11960
Location:166 → 270

Ig; Immunoglobulin domain
NM_001174067.2 → 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, AK309947, FJ809917

UniProtKB/TrEMBL

A0A1B0RPQ4

Conserved Domains (7) summary

cd04973
Location:73 → 151

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

cd04974
Location:301 → 390

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

cd05857
Location:194 → 278

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

smart00410
Location:293 → 389

IG_like; Immunoglobulin like

pfam07679
Location:191 → 278

I-set; Immunoglobulin I-set domain

cd05098
Location:495 → 796

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

pfam07714
Location:509 → 785

Pkinase_Tyr; Protein tyrosine kinase
NM_001354367.2 → NP_001341296.1 fibroblast growth factor receptor 1 isoform 15 precursor

Status: REVIEWED

Source sequence(s)

AC087623, AW206093

UniProtKB/TrEMBL

A0A804HIF1

Related

ENSP00000507039.1, ENST00000683765.1

Conserved Domains (6) summary

cd05098
Location:462 → 762

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

pfam18123
Location:369 → 398

FGFR3_TM; Fibroblast growth factor receptor 3 transmembrane domain

cd00096
Location:253 → 256

Ig; Ig strand A [structural motif]

cd04973
Location:25 → 118

IgI_1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR); member of the I-set of Ig superfamily (IgSF) domains

cd05857
Location:151 → 245

IgI_2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor; member of the I-set of IgSF domains

cl11960
Location:253 → 357

Ig; Immunoglobulin domain
NM_001354368.2 → NP_001341297.1 fibroblast growth factor receptor 1 isoform 16 precursor

Status: REVIEWED

Source sequence(s)

AC087623, AW206093

Consensus CDS

CCDS94283.1

UniProtKB/TrEMBL

A0A0S2Z3T4, E7EU09

Related

ENSP00000507205.1, ENST00000684654.1

Conserved Domains (5) summary

cd05098
Location:371 → 672

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

pfam18123
Location:280 → 309

FGFR3_TM; Fibroblast growth factor receptor 3 transmembrane domain

cd00096
Location:164 → 167

Ig; Ig strand A [structural motif]

cd05857
Location:62 → 156

IgI_2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor; member of the I-set of IgSF domains

cl11960
Location:164 → 268

Ig; Immunoglobulin domain
NM_001354369.2 → NP_001341298.1 fibroblast growth factor receptor 1 isoform 17 precursor

Status: REVIEWED

Source sequence(s)

AC087623, AW206093

Consensus CDS

CCDS94284.1

UniProtKB/TrEMBL

A0A804HIF1, A0A8I3B1S4

Related

ENSP00000393312.4, ENST00000425967.8

Conserved Domains (4) summary

cd04973
Location:40 → 118

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

cd05857
Location:161 → 245

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

cd05858
Location:268 → 357

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

cd05098
Location:460 → 760

PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
NM_001354370.2 → NP_001341299.1 fibroblast growth factor receptor 1 isoform 18 precursor

Status: REVIEWED

Source sequence(s)

AC087623, AW206093

UniProtKB/TrEMBL

A0A804HIF1

Conserved Domains (4) summary

cd05857
Location:72 → 156

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

cd05858
Location:179 → 268

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

cd05098
Location:373 → 673

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

pfam18123
Location:280 → 309

FGFR3_TM; Fibroblast growth factor receptor 3 transmembrane domain
NM_001410922.1 → NP_001397851.1 fibroblast growth factor receptor 1 isoform 19 precursor

Status: REVIEWED

Source sequence(s)

AC087623

Consensus CDS

CCDS94285.1

UniProtKB/TrEMBL

A0A3B3ISD1

Related

ENSP00000497266.1, ENST00000649678.1
NM_015850.4 → 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/TrEMBL

A0A1B0RPQ4

Related

ENSP00000380280.5, ENST00000397091.9

Conserved Domains (5) summary

cd04973
Location:40 → 118

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

cd05857
Location:161 → 245

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

cd05858
Location:268 → 357

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

cd05098
Location:462 → 763

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

pfam18123
Location:369 → 398

FGFR3_TM; Fibroblast growth factor receptor 3 transmembrane domain
NM_023105.3 → 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)

AK130555, AW206093, BC018128, BQ774633, CX756209, CX757985, M34185

Consensus CDS

CCDS43730.1

UniProtKB/TrEMBL

E7EU09

Related

ENSP00000348537.5, ENST00000356207.9

Conserved Domains (5) summary

cd05098
Location:375 → 676

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

pfam18123
Location:282 → 311

FGFR3_TM; Fibroblast growth factor receptor 3 transmembrane domain

cd00096
Location:166 → 169

Ig; Ig strand A [structural motif]

cd05857
Location:64 → 158

IgI_2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor; member of the I-set of IgSF domains

cl11960
Location:166 → 270

Ig; Immunoglobulin domain
NM_023106.3 → 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/TrEMBL

E7EU09

Related

ENSP00000327229.6, ENST00000326324.10

Conserved Domains (5) summary

cd05098
Location:373 → 674

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

pfam18123
Location:280 → 309

FGFR3_TM; Fibroblast growth factor receptor 3 transmembrane domain

cd00096
Location:164 → 167

Ig; Ig strand A [structural motif]

cd05857
Location:62 → 156

IgI_2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor; member of the I-set of IgSF domains

cl11960
Location:164 → 268

Ig; Immunoglobulin domain
NM_023110.3 → NP_075598.2 fibroblast growth factor receptor 1 isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes 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

A8K6T9, A8K8V5, C1KBH8, P11362, P17049, Q02063, Q02065, Q14306, Q14307, Q53H63, Q59H40, Q5BJG2, Q8N685, Q9UD50, Q9UDF0, Q9UDF1, Q9UDF2

UniProtKB/TrEMBL

A0A1B0RPQ4

Related

ENSP00000400162.2, ENST00000447712.7

Conserved Domains (6) summary

cd05098
Location:464 → 765

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

pfam18123
Location:371 → 400

FGFR3_TM; Fibroblast growth factor receptor 3 transmembrane domain

cd00096
Location:255 → 258

Ig; Ig strand A [structural motif]

cd04973
Location:25 → 118

IgI_1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR); member of the I-set of Ig superfamily (IgSF) domains

cd05857
Location:153 → 247

IgI_2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor; member of the I-set of IgSF domains

cl11960
Location:255 → 359

Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

38411143..38468635 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060932.1 Alternate T2T-CHM13v2.0

Range

38688107..38745588 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.