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

    Gene ID: 2260, updated on 8-Apr-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FGFR1 in Genome Data Viewer
    Location:
    8p11.23
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (38411143..38468635, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (38688107..38745588, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (38268661..38326153, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene DDHD domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19120 Neighboring gene nuclear receptor binding SET domain protein 3 Neighboring gene NUP98-NSD3 recombination region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27247 Neighboring gene OCT4 hESC enhancer GRCh37_chr8:38235530-38236031 Neighboring gene OCT4 hESC enhancer GRCh37_chr8:38238312-38238846 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:38239137-38239927 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19122 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19123 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:38242638-38243268 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr8:38243269-38243898 Neighboring gene OCT4 hESC enhancer GRCh37_chr8:38244052-38244553 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19125 Neighboring gene OCT4 hESC enhancer GRCh37_chr8:38247000-38247501 Neighboring gene OCT4 hESC enhancer GRCh37_chr8:38248280-38248781 Neighboring gene OCT4 hESC enhancer GRCh37_chr8:38257600-38258101 Neighboring gene uncharacterized LOC102723716 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr8:38261681-38262180 Neighboring gene OCT4 hESC enhancer GRCh37_chr8:38262831-38263332 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19126 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr8:38270604-38271277 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38269931-38270603 Neighboring gene leucine zipper and EF-hand containing transmembrane protein 2 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38272896-38273666 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr8:38274107-38274772 Neighboring gene OCT4 hESC enhancer GRCh37_chr8:38275681-38276444 Neighboring gene OCT4 hESC enhancer GRCh37_chr8:38277305-38277806 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38277908-38278453 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38278454-38278998 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr8:38278999-38279544 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr8:38279545-38280088 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr8:38280202-38280702 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr8:38280703-38281203 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr8:38282951-38283642 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38285189-38286186 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38287183-38288180 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38289284-38289961 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38289962-38290638 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr8:38292133-38292640 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr8:38292641-38293146 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr8:38293147-38293653 Neighboring gene OCT4 hESC enhancer GRCh37_chr8:38294553-38295054 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38296366-38297156 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38297948-38298737 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38299529-38300319 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38298738-38299528 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38300320-38301110 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:38301111-38301900 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38303357-38303904 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38303905-38304451 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38308051-38308774 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38308775-38309498 Neighboring gene ribosomal protein S20 pseudogene 22 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr8:38310223-38310946 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr8:38312456-38313158 Neighboring gene OCT4 hESC enhancer GRCh37_chr8:38314169-38314670 Neighboring gene OCT4 hESC enhancer GRCh37_chr8:38315184-38316172 Neighboring gene OCT4 hESC enhancer GRCh37_chr8:38322798-38323299 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19127 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27250 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19128 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38325893-38326879 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19129 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr8:38329497-38330290 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr8:38330291-38331084 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38331715-38332697 Neighboring gene OCT4 hESC enhancer GRCh37_chr8:38335294-38335795 Neighboring gene OCT4 hESC enhancer GRCh37_chr8:38337885-38338386 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:38342043-38342691 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr8:38342692-38343339 Neighboring gene OCT4 hESC enhancer GRCh37_chr8:38343723-38344224 Neighboring gene OCT4 hESC enhancer GRCh37_chr8:38345990-38346491 Neighboring gene OCT4 hESC enhancer GRCh37_chr8:38347499-38348000 Neighboring gene OCT4 hESC enhancer GRCh37_chr8:38348154-38348655 Neighboring gene Sharpr-MPRA regulatory region 7766 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:38353597-38354164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:38354165-38354733 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr8:38359246-38360101 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr8:38360102-38360956 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr8:38360976-38361766 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr8:38361767-38362556 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr8:38368263-38369061 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:38369732-38370310 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr8:38370311-38370888 Neighboring gene OCT4 hESC enhancer GRCh37_chr8:38376955-38377456 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38379090-38380048 Neighboring gene long intergenic non-protein coding RNA 3042 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:38385147-38386346 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr8:38386932-38387753 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:38387754-38388574 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38388575-38389395 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38389396-38390215 Neighboring gene uncharacterized LOC124901935 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27253 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:38409783-38410284

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ99988

    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 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 to fibroblast growth factor IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 C activity IDA
    Inferred from Direct Assay
    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 extrinsic apoptotic signaling pathway in absence of ligand 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 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 transmembrane receptor protein tyrosine kinase signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    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 membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    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

    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
    NP_001167535.1
    NP_001167536.1
    NP_001167537.1
    NP_001167538.1
    NP_001341296.1
    NP_001341297.1
    NP_001341298.1
    NP_001341299.1
    NP_001397851.1
    NP_056934.2
    NP_075593.1
    NP_075594.1
    NP_075598.2

    NCBI Reference Sequences (RefSeq)

    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

    1. NG_007729.1 RefSeqGene

      Range
      5001..62697
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_993

    mRNA and Protein(s)

    1. NM_001174063.2NP_001167534.1  fibroblast growth factor receptor 1 isoform 10 precursor

      See identical proteins and their annotated locations for NP_001167534.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (10) lacks a 2-aa segment, compared to isoform 1.
      Source sequence(s)
      BC015035, FJ809917
      Consensus CDS
      CCDS55222.1
      UniProtKB/TrEMBL
      A0A0S2Z3Q6, A0A1B0RPQ4
      Related
      ENSP00000432972.1, ENST00000532791.5
      Conserved Domains (5) summary
      cd04973
      Location:40118
      Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:163247
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:270359
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      cd05098
      Location:462763
      PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
      pfam18123
      Location:371400
      FGFR3_TM; Fibroblast growth factor receptor 3 transmembrane domain
    2. NM_001174064.2NP_001167535.1  fibroblast growth factor receptor 1 isoform 11 precursor

      See identical proteins and their annotated locations for NP_001167535.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) includes an alternate exon, uses an alternate translation start site, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (11) has a shorter and distinct N-terminus and lacks a 2-aa segment, compared to isoform 1.
      Source sequence(s)
      AB208919, FJ809917
      Consensus CDS
      CCDS55221.1
      UniProtKB/TrEMBL
      A0A1B0RPQ4
      Related
      ENSP00000337247.5, ENST00000335922.9
      Conserved Domains (7) summary
      cd04973
      Location:32110
      Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd04974
      Location:262351
      Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:155239
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      smart00410
      Location:254350
      IG_like; Immunoglobulin like
      pfam07679
      Location:152239
      I-set; Immunoglobulin I-set domain
      cd05098
      Location:454755
      PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
      pfam07714
      Location:468744
      Pkinase_Tyr; Protein tyrosine kinase
    3. NM_001174065.2NP_001167536.1  fibroblast growth factor receptor 1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001167536.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) represents use of an alternate promoter and 5' UTR and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (2), also known as isoform A, III, and the 3-Ig domain form, lacks a 2-aa segment, compared to isoform 1. Both variants 2 and 12 encode the same isoform.z
      Source sequence(s)
      AK291754, AK292470, FJ809917
      Consensus CDS
      CCDS43732.1
      UniProtKB/TrEMBL
      A0A1B0RPQ4
      Related
      ENSP00000380302.2, ENST00000397113.6
      Conserved Domains (5) summary
      cd04973
      Location:40118
      Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:161245
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:268357
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      cd05098
      Location:462763
      PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
      pfam18123
      Location:369398
      FGFR3_TM; Fibroblast growth factor receptor 3 transmembrane domain
    4. NM_001174066.2NP_001167537.1  fibroblast growth factor receptor 1 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001167537.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) represents use of an alternate promoter and 5' UTR and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (3), also known as isoform Beta A1, II, H2, and the 2-Ig Domain+2 AA insert form, lacks the first Ig domain, compared to isoform 1. Both variants 3 and 13 encode the same isoform.
      Source sequence(s)
      AK292470, FJ809917
      Consensus CDS
      CCDS43730.1
      UniProtKB/TrEMBL
      E7EU09
      Conserved Domains (5) summary
      cd05098
      Location:375676
      PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
      pfam18123
      Location:282311
      FGFR3_TM; Fibroblast growth factor receptor 3 transmembrane domain
      cd00096
      Location:166169
      Ig; Ig strand A [structural motif]
      cd05857
      Location:64158
      IgI_2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor; member of the I-set of IgSF domains
      cl11960
      Location:166270
      Ig; Immunoglobulin domain
    5. NM_001174067.2NP_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:73151
      Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd04974
      Location:301390
      Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:194278
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      smart00410
      Location:293389
      IG_like; Immunoglobulin like
      pfam07679
      Location:191278
      I-set; Immunoglobulin I-set domain
      cd05098
      Location:495796
      PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
      pfam07714
      Location:509785
      Pkinase_Tyr; Protein tyrosine kinase
    6. NM_001354367.2NP_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:462762
      PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
      pfam18123
      Location:369398
      FGFR3_TM; Fibroblast growth factor receptor 3 transmembrane domain
      cd00096
      Location:253256
      Ig; Ig strand A [structural motif]
      cd04973
      Location:25118
      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:151245
      IgI_2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor; member of the I-set of IgSF domains
      cl11960
      Location:253357
      Ig; Immunoglobulin domain
    7. NM_001354368.2NP_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:371672
      PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
      pfam18123
      Location:280309
      FGFR3_TM; Fibroblast growth factor receptor 3 transmembrane domain
      cd00096
      Location:164167
      Ig; Ig strand A [structural motif]
      cd05857
      Location:62156
      IgI_2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor; member of the I-set of IgSF domains
      cl11960
      Location:164268
      Ig; Immunoglobulin domain
    8. NM_001354369.2NP_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:40118
      Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:161245
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:268357
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      cd05098
      Location:460760
      PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
    9. NM_001354370.2NP_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:72156
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:179268
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      cd05098
      Location:373673
      PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
      pfam18123
      Location:280309
      FGFR3_TM; Fibroblast growth factor receptor 3 transmembrane domain
    10. NM_001410922.1NP_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
    11. NM_015850.4NP_056934.2  fibroblast growth factor receptor 1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_056934.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The resulting isoform (2), also known as isoform A, III, and the 3-Ig domain form, lacks a 2-aa segment, compared to isoform 1. Both variants 2 and 12 encode the same isoform.
      Source sequence(s)
      AC087623, AK130555, AK222718, AW206093, BC018128, BQ774633, CX757985
      Consensus CDS
      CCDS43732.1
      UniProtKB/TrEMBL
      A0A1B0RPQ4
      Related
      ENSP00000380280.5, ENST00000397091.9
      Conserved Domains (5) summary
      cd04973
      Location:40118
      Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:161245
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:268357
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      cd05098
      Location:462763
      PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
      pfam18123
      Location:369398
      FGFR3_TM; Fibroblast growth factor receptor 3 transmembrane domain
    12. NM_023105.3NP_075593.1  fibroblast growth factor receptor 1 isoform 3 precursor

      See identical proteins and their annotated locations for NP_075593.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon, compared to variant 1. The resulting isoform (3), also known as isoform Beta A1, II, H2, and the 2-Ig Domain+2 AA insert form, lacks the first Ig domain, compared to isoform 1. Both variants 3 and 13 encode the same isoform.
      Source sequence(s)
      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:375676
      PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
      pfam18123
      Location:282311
      FGFR3_TM; Fibroblast growth factor receptor 3 transmembrane domain
      cd00096
      Location:166169
      Ig; Ig strand A [structural motif]
      cd05857
      Location:64158
      IgI_2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor; member of the I-set of IgSF domains
      cl11960
      Location:166270
      Ig; Immunoglobulin domain
    13. NM_023106.3NP_075594.1  fibroblast growth factor receptor 1 isoform 4 precursor

      See identical proteins and their annotated locations for NP_075594.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon and uses a different in-frame splice junction compared to variant 1. This variant encodes isoform 4, also known as isoform I, H3, and the 2-Ig Domain form, which is 91 aa shorter than isoform 1.
      Source sequence(s)
      AC087623, AK130555, AW206093, BC091494, BQ774633, CX757985, M37722
      Consensus CDS
      CCDS43731.1
      UniProtKB/TrEMBL
      E7EU09
      Related
      ENSP00000327229.6, ENST00000326324.10
      Conserved Domains (5) summary
      cd05098
      Location:373674
      PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
      pfam18123
      Location:280309
      FGFR3_TM; Fibroblast growth factor receptor 3 transmembrane domain
      cd00096
      Location:164167
      Ig; Ig strand A [structural motif]
      cd05857
      Location:62156
      IgI_2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor; member of the I-set of IgSF domains
      cl11960
      Location:164268
      Ig; Immunoglobulin domain
    14. NM_023110.3NP_075598.2  fibroblast growth factor receptor 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_075598.2

      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:464765
      PTKc_FGFR1; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1
      pfam18123
      Location:371400
      FGFR3_TM; Fibroblast growth factor receptor 3 transmembrane domain
      cd00096
      Location:255258
      Ig; Ig strand A [structural motif]
      cd04973
      Location:25118
      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:153247
      IgI_2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor; member of the I-set of IgSF domains
      cl11960
      Location:255359
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      38411143..38468635 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. 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

    1. NM_023107.2: Suppressed sequence

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

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

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

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

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