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Aliases for FGFR1 Gene

Aliases for FGFR1 Gene

  • Fibroblast Growth Factor Receptor 1 2 3 5
  • Basic Fibroblast Growth Factor Receptor 1 3 4
  • Fms-Related Tyrosine Kinase 2 2 3
  • Proto-Oncogene C-Fgr 3 4
  • EC 2.7.10.1 4 63
  • BFGF-R-1 3 4
  • FGFR-1 3 4
  • N-SAM 3 4
  • BFGFR 3 4
  • FGFBR 3 4
  • FLT-2 3 4
  • HBGFR 3 4
  • FLT2 3 4
  • CEK 3 4
  • FLG 3 4
  • Heparin-Binding Growth Factor Receptor 3
  • Hydroxyaryl-Protein Kinase 3
  • FMS-Like Tyrosine Kinase 2 3
  • Fms-Like Tyrosine Kinase 2 4
  • FGFR1/PLAG1 Fusion 3
  • Pfeiffer Syndrome 2
  • CD331 Antigen 4
  • EC 2.7.10 63
  • HRTFDS 3
  • CD331 3
  • ECCL 3
  • KAL2 3
  • HH2 3
  • OGD 3

External Ids for FGFR1 Gene

Previous HGNC Symbols for FGFR1 Gene

  • FLT2
  • KAL2

Previous GeneCards Identifiers for FGFR1 Gene

  • GC08M037810
  • GC08M038400
  • GC08M038011
  • GC08M038287
  • GC08M038389
  • GC08M038268
  • GC08M036802

Summaries for FGFR1 Gene

Entrez Gene Summary for FGFR1 Gene

  • 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]

GeneCards Summary for FGFR1 Gene

FGFR1 (Fibroblast Growth Factor Receptor 1) is a Protein Coding gene. Diseases associated with FGFR1 include osteoglophonic dysplasia and hypogonadotropic hypogonadism 2 with or without anosmia. Among its related pathways are Adherens junction and Central carbon metabolism in cancer. GO annotations related to this gene include protein homodimerization activity and transferase activity, transferring phosphorus-containing groups. An important paralog of this gene is FGFR3.

UniProtKB/Swiss-Prot for FGFR1 Gene

  • Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of embryonic development, cell proliferation, differentiation and migration. Required for normal mesoderm patterning and correct axial organization during embryonic development, normal skeletogenesis and normal development of the gonadotropin-releasing hormone (GnRH) neuronal system. Phosphorylates PLCG1, FRS2, GAB1 and SHB. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Promotes phosphorylation of SHC1, STAT1 and PTPN11/SHP2. In the nucleus, enhances RPS6KA1 and CREB1 activity and contributes to the regulation of transcription. FGFR1 signaling is down-regulated by IL17RD/SEF, and by FGFR1 ubiquitination, internalization and degradation.

Tocris Summary for FGFR1 Gene

  • Fibroblast growth factors (FGFs) are mitogenic signaling molecules that have roles in angiogenesis, wound healing, cell migration, neural outgrowth and embryonic development. FGF receptors (FGFRs) are transmembrane catalytic receptors with intracellular tyrosine kinase activity.

Gene Wiki entry for FGFR1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FGFR1 Gene

Genomics for FGFR1 Gene

Regulatory Elements for FGFR1 Gene

Enhancers for FGFR1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around FGFR1 on UCSC Golden Path with GeneCards custom track

Promoters for FGFR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FGFR1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the FGFR1 gene promoter:

Genomic Location for FGFR1 Gene

Chromosome:
8
Start:
38,411,138 bp from pter
End:
38,468,834 bp from pter
Size:
57,697 bases
Orientation:
Minus strand

Genomic View for FGFR1 Gene

Genes around FGFR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FGFR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FGFR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FGFR1 Gene

Proteins for FGFR1 Gene

  • Protein details for FGFR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P11362-FGFR1_HUMAN
    Recommended name:
    Fibroblast growth factor receptor 1
    Protein Accession:
    P11362
    Secondary Accessions:
    • A8K6T9
    • A8K8V5
    • C1KBH8
    • P17049
    • Q02063
    • Q02065
    • Q14306
    • Q14307
    • Q53H63
    • Q59H40
    • Q5BJG2
    • Q8N685
    • Q9UD50
    • Q9UDF0
    • Q9UDF1
    • Q9UDF2

    Protein attributes for FGFR1 Gene

    Size:
    822 amino acids
    Molecular mass:
    91868 Da
    Quaternary structure:
    • Monomer. Homodimer after ligand binding. Interacts predominantly with FGF1 and FGF2, but can also interact with FGF3, FGF4, FGF5, FGF6, FGF8, FGF10, FGF19, FGF21, FGF22 and FGF23 (in vitro) (PubMed:1697263, PubMed:1722683, PubMed:8663044, PubMed:9655399, PubMed:12181353, PubMed:16597617, PubMed:17623664). Ligand specificity is determined by tissue-specific expression of isoforms, and differences in the third Ig-like domain are crucial for ligand specificity. Affinity for fibroblast growth factors (FGFs) is increased by heparan sulfate glycosaminoglycans that function as coreceptors. Likewise, KLB increases the affinity for FGF19, FGF21 and FGF23 (PubMed:19966287). Interacts (phosphorylated on Tyr-766) with PLCG1 (via SH2 domains) (PubMed:1656221, PubMed:1379697, PubMed:21765395). Interacts with FRS2 (PubMed:21765395). Interacts with RPS6KA1 (PubMed:15117958). Interacts (via C-terminus) with NEDD4 (via WW3 domain) (PubMed:21765395). Interacts with KL (By similarity). Interacts with SHB (via SH2 domain) (PubMed:12181353). Interacts with GRB10 (PubMed:10454568). Interacts with ANOS1; this interaction does not interfere with FGF2-binding to FGFR1, but prevents binding of heparin-bound FGF2 (PubMed:19696444). Interacts with SOX2 and SOX3. Interacts with FLRT1, FLRT2 and FLRT3 (By similarity).
    SequenceCaution:
    • Sequence=BAD92156.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FGFR1 Gene

neXtProt entry for FGFR1 Gene

Proteomics data for FGFR1 Gene at MOPED

Post-translational modifications for FGFR1 Gene

  • Autophosphorylated. Binding of FGF family members together with heparan sulfate proteoglycan or heparin promotes receptor dimerization and autophosphorylation on tyrosine residues. Autophosphorylation occurs in trans between the two FGFR molecules present in the dimer and proceeds in a highly ordered manner. Initial autophosphorylation at Tyr-653 increases the kinase activity by a factor of 50 to 100. After this, Tyr-583 becomes phosphorylated, followed by phosphorylation of Tyr-463, Tyr-766, Tyr-583 and Tyr-585. In a third stage, Tyr-654 is autophosphorylated, resulting in a further tenfold increase of kinase activity. Phosphotyrosine residues provide docking sites for interacting proteins and so are crucial for FGFR1 function and its regulation.
  • N-glycosylated in the endoplasmic reticulum. The N-glycan chains undergo further maturation to an Endo H-resistant form in the Golgi apparatus.
  • Ubiquitinated. FGFR1 is rapidly ubiquitinated by NEDD4 after autophosphorylation, leading to internalization and lysosomal degradation. CBL is recruited to activated FGFR1 via FRS2 and GRB2, and mediates ubiquitination and subsequent degradation of FGFR1.
  • Glycosylation at Asn 77, Asn 117, Asn 227, Asn 240, Asn 264, Asn 296, Asn 317, and Asn 330
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for FGFR1 (FGFR1)

Domains & Families for FGFR1 Gene

Graphical View of Domain Structure for InterPro Entry

P11362

UniProtKB/Swiss-Prot:

FGFR1_HUMAN :
  • The second and third Ig-like domains directly interact with fibroblast growth factors (FGF) and heparan sulfate proteoglycans. Isoforms lacking the first Ig-like domain have higher affinity for fibroblast growth factors (FGF) and heparan sulfate proteoglycans than isoforms with all three Ig-like domains.
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Fibroblast growth factor receptor subfamily.
Domain:
  • The second and third Ig-like domains directly interact with fibroblast growth factors (FGF) and heparan sulfate proteoglycans. Isoforms lacking the first Ig-like domain have higher affinity for fibroblast growth factors (FGF) and heparan sulfate proteoglycans than isoforms with all three Ig-like domains.
  • Contains 3 Ig-like C2-type (immunoglobulin-like) domains.
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Fibroblast growth factor receptor subfamily.
genes like me logo Genes that share domains with FGFR1: view

Function for FGFR1 Gene

Molecular function for FGFR1 Gene

GENATLAS Biochemistry:
fibroblast growth factor receptor 1 (flg/fms related gene),overexpressed in breast carcinomas?involved in limb induction
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Present in an inactive conformation in the absence of bound ligand. Ligand binding leads to dimerization and activation by sequential autophosphorylation on tyrosine residues. Inhibited by ARQ 069; this compound maintains the kinase in an inactive conformation and inhibits autophosphorylation. Inhibited by PD173074.
UniProtKB/Swiss-Prot Function:
Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of embryonic development, cell proliferation, differentiation and migration. Required for normal mesoderm patterning and correct axial organization during embryonic development, normal skeletogenesis and normal development of the gonadotropin-releasing hormone (GnRH) neuronal system. Phosphorylates PLCG1, FRS2, GAB1 and SHB. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Promotes phosphorylation of SHC1, STAT1 and PTPN11/SHP2. In the nucleus, enhances RPS6KA1 and CREB1 activity and contributes to the regulation of transcription. FGFR1 signaling is down-regulated by IL17RD/SEF, and by FGFR1 ubiquitination, internalization and degradation.

Enzyme Numbers (IUBMB) for FGFR1 Gene

Gene Ontology (GO) - Molecular Function for FGFR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004713 protein tyrosine kinase activity IEA,TAS --
GO:0042803 protein homodimerization activity IPI 20133753
genes like me logo Genes that share ontologies with FGFR1: view
genes like me logo Genes that share phenotypes with FGFR1: view

Human Phenotype Ontology for FGFR1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FGFR1 Gene

MGI Knock Outs for FGFR1:

Animal Model Products

  • Taconic Biosciences Mouse Models for FGFR1

CRISPR Products

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for FGFR1 Gene

Localization for FGFR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FGFR1 Gene

Cell membrane; Single-pass type I membrane protein. Nucleus. Cytoplasm, cytosol. Cytoplasmic vesicle. Note=After ligand binding, both receptor and ligand are rapidly internalized. Can translocate to the nucleus after internalization, or by translocation from the endoplasmic reticulum or Golgi apparatus to the cytosol, and from there to the nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FGFR1 Gene COMPARTMENTS Subcellular localization image for FGFR1 gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 5
plasma membrane 5
cytoskeleton 2
endoplasmic reticulum 1
endosome 1
golgi apparatus 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for FGFR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043235 receptor complex IDA 23382219
genes like me logo Genes that share ontologies with FGFR1: view

Pathways & Interactions for FGFR1 Gene

SuperPathways for FGFR1 Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 Apoptotic Pathways in Synovial Fibroblasts
3 PI3K events in ERBB4 signaling
4 GPCR Pathway
5 Negative regulation of FGFR1 signaling
genes like me logo Genes that share pathways with FGFR1: view

SIGNOR curated interactions for FGFR1 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for FGFR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0000165 MAPK cascade TAS --
GO:0000186 activation of MAPKK activity TAS --
GO:0001501 skeletal system development TAS 7874169
GO:0001759 organ induction IEA --
genes like me logo Genes that share ontologies with FGFR1: view

Drugs & Compounds for FGFR1 Gene

(116) Drugs for FGFR1 Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, FDA Approved Drugs, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lenvatinib Approved Pharma inhibitor, Target Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 46
Nintedanib Approved Pharma inhibitor, Target VEGFR, FGFR, PDGFR, and FLT3 inhibitor, Kinase Inhibitors 106
Palifermin Approved Pharma binder, Target 0
ponatinib Approved Pharma inhibitor, Target Kinase Inhibitors, Fibroblast growth factor receptor (FGFR)inhibitors 30
regorafenib Approved Pharma inhibitor, Target Inhibitor of VEGFR/PDGFR/FGFR/mutant kit/RET/Raf-1, Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 0

(34) Additional Compounds for FGFR1 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
PD 161570
192705-80-9
PD 166285 dihydrochloride
212391-63-4
SU 5402
215543-92-3
SU 6668
252916-29-3

(5) Tocris Compounds for FGFR1 Gene

Compound Action Cas Number
PD 161570 Selective FGFR inhibitor 192705-80-9
PD 166285 dihydrochloride Potent Src inhibitor; also inhibits FGFR1, PDGFRbeta and Wee1 212391-63-4
PD 173074 FGFR1 and -3 inhibitor 219580-11-7
SU 5402 Potent FGFR and VEGFR inhibitor 215543-92-3
SU 6668 PDGFR, VEGFR and FGFR inhibitor 252916-29-3

(9) ApexBio Compounds for FGFR1 Gene

Compound Action Cas Number
AZD4547 FGFR inhibitor 1035270-39-3
BGJ398 FGFR inhibitor ,potent and selective 872511-34-7
BIBF 1120 VEGFR/PDGF/FGFR inhibitor 656247-17-5
Dovitinib (TKI-258, CHIR-258) Multitargeted RTK inhibitor 405169-16-6
LY2874455 FGF/FGFR Inhibitor 1254473-64-7
Pazopanib Hydrochloride VEGFR/PDGFR/FGFR/c-Kit/ c-Fms inhibitor 635702-64-6
SSR128129E 848318-25-2
SU 4312 5812-07-7
TSU-68 (SU6668,Orantinib) PDGFR/Flk-1/FGFR1 inhibitor,potent and competitive 252916-29-3
genes like me logo Genes that share compounds with FGFR1: view

Drug Products

Transcripts for FGFR1 Gene

Unigene Clusters for FGFR1 Gene

Fibroblast growth factor receptor 1:
Representative Sequences:

CRISPR Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FGFR1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g · 1h · 1i ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b · 10c · 10d ^
SP1: - - - - - - - - - -
SP2: - - - - - - - - - - -
SP3: - - - - - - - - - - -
SP4: - -
SP5: - - - - - - - - - - - - - -
SP6: - - - - - - - - - - - - - -
SP7:
SP8: - - - - -
SP9: - -
SP10: - - - - - - - - - - - - - -
SP11: - - - - - - - - - - - - - -
SP12: - - - - - - - - - - - -
SP13: - - - - - - - - - - - -
SP14:
SP15:
SP16:
SP17: - - - - - - - - - - -
SP18: - - - - - - -
SP19: - - - - - - - - -
SP20: - - - - - -
SP21: - - - - - - - - -
SP22: - - - - - - - - - -
SP23:
SP24:
SP25:
SP26:
SP27:
SP28:
SP29: - - -

ExUns: 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17a · 17b · 17c · 17d · 17e ^ 18a · 18b ^ 19a · 19b · 19c ^ 20a · 20b · 20c ^ 21a · 21b ^ 22 ^
SP1: - - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - - - - - - - -
SP4: - - - - - - - - -
SP5: - - - - - - - - -
SP6: - - - - - - - - -
SP7: - - - - - - -
SP8: - - - - - - -
SP9:
SP10: - -
SP11: - -
SP12: - -
SP13: - -
SP14: - - - - - - -
SP15:
SP16: - -
SP17:
SP18:
SP19: - -
SP20:
SP21: - -
SP22:
SP23: - - -
SP24: - - - - -
SP25:
SP26: - -
SP27:
SP28: -
SP29:

ExUns: 23a · 23b · 23c ^ 24a · 24b · 24c ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29a · 29b · 29c · 29d
SP1: - - -
SP2: - - -
SP3: - - -
SP4: - -
SP5: - - -
SP6: - - -
SP7: - - -
SP8: -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16: -
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:
SP25: -
SP26:
SP27:
SP28:
SP29:

Relevant External Links for FGFR1 Gene

GeneLoc Exon Structure for
FGFR1
ECgene alternative splicing isoforms for
FGFR1

Expression for FGFR1 Gene

mRNA expression in normal human tissues for FGFR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FGFR1 Gene

This gene is overexpressed in Plasma (25.1), Heart (22.7), and Cerebrospinal fluid (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for FGFR1 Gene



SOURCE GeneReport for Unigene cluster for FGFR1 Gene Hs.264887

mRNA Expression by UniProt/SwissProt for FGFR1 Gene

P11362-FGFR1_HUMAN
Tissue specificity: Detected in astrocytoma, neuroblastoma and adrenal cortex cell lines. Some isoforms are detected in foreskin fibroblast cell lines, however isoform 17, isoform 18 and isoform 19 are not detected in these cells.
genes like me logo Genes that share expression patterns with FGFR1: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for FGFR1 Gene

Orthologs for FGFR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FGFR1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FGFR1 35
  • 91.95 (n)
  • 98.78 (a)
FGFR1 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FGFR1 35
  • 93.41 (n)
  • 99.15 (a)
FGFR1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fgfr1 35
  • 89.84 (n)
  • 98.54 (a)
Fgfr1 16
Fgfr1 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FGFR1 35
  • 99.76 (n)
  • 100 (a)
FGFR1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fgfr1 35
  • 89.51 (n)
  • 97.8 (a)
oppossum
(Monodelphis domestica)
Mammalia FGFR1 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FGFR1 36
  • 97 (a)
OneToOne
chicken
(Gallus gallus)
Aves FGFR1 35
  • 83.44 (n)
  • 92.04 (a)
FGFR1 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FGFR1 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fgfr1 35
  • 72.98 (n)
  • 79.95 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.2751 35
zebrafish
(Danio rerio)
Actinopterygii fgfr1 35
fgfr1a 35
  • 71.51 (n)
  • 74.34 (a)
fgfr1a 36
  • 72 (a)
OneToMany
fgfr1b 36
  • 75 (a)
OneToMany
fgfr1bl 36
  • 69 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta btl 37
  • 39 (a)
htl 37
  • 40 (a)
tor 37
  • 52 (a)
btl 36
  • 28 (a)
ManyToMany
htl 36
  • 36 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea C24G6.2a 37
  • 36 (a)
C24G6.2b 37
  • 36 (a)
F09G2.1 37
  • 33 (a)
F59A3.8 37
  • 32 (a)
kin-16 37
  • 34 (a)
kin-23 37
  • 35 (a)
kin-9 37
  • 38 (a)
old-1 37
  • 36 (a)
old-2 37
  • 36 (a)
R09D1.12 37
  • 35 (a)
R09D1.13 37
  • 32 (a)
R151.4 37
  • 38 (a)
ver-2 37
  • 38 (a)
ver-3 37
  • 33 (a)
ver-4 37
  • 28 (a)
W04G5.10 37
  • 36 (a)
Y38H6C.20 37
  • 34 (a)
Y50D4B.6 37
  • 34 (a)
egl-15 36
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
OneToMany
Species with no ortholog for FGFR1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FGFR1 Gene

ENSEMBL:
Gene Tree for FGFR1 (if available)
TreeFam:
Gene Tree for FGFR1 (if available)

Paralogs for FGFR1 Gene

genes like me logo Genes that share paralogs with FGFR1: view

Variants for FGFR1 Gene

Sequence variations from dbSNP and Humsavar for FGFR1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
VAR_004111 Pfeiffer syndrome (PS)
VAR_017885 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
VAR_017886 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
VAR_017887 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
VAR_017888 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)

Variation tolerance for FGFR1 Gene

Residual Variation Intolerance Score: 3.37% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.53; 44.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FGFR1 Gene

HapMap Linkage Disequilibrium report
FGFR1
Human Gene Mutation Database (HGMD)
FGFR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for FGFR1 Gene

Disorders for FGFR1 Gene

MalaCards: The human disease database

(65) MalaCards diseases for FGFR1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
osteoglophonic dysplasia
  • fairbank-keats syndrome
hypogonadotropic hypogonadism 2 with or without anosmia
  • kallmann syndrome 2
hartsfield syndrome
  • holoprosencephaly, ectrodactyly and bilateral cleft lip/palate
trigonocephaly 1
  • trigonocephaly 2
pfeiffer syndrome
  • craniofacial-skeletal-dermatologic dysplasia
- elite association - COSMIC cancer census association via MalaCards
Search FGFR1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FGFR1_HUMAN
  • Hartsfield syndrome (HRTFDS) [MIM:615465]: A syndrome characterized by the triad of holoprosencephaly, ectrodactyly, and cleft/lip palate. Profound mental retardation is also present. Multiple other congenital anomalies usually occur. {ECO:0000269 PubMed:23812909, ECO:0000269 PubMed:24888332}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]: A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). {ECO:0000269 PubMed:12627230, ECO:0000269 PubMed:15001591, ECO:0000269 PubMed:15605412, ECO:0000269 PubMed:15845591, ECO:0000269 PubMed:16606836, ECO:0000269 PubMed:16757108, ECO:0000269 PubMed:16764984, ECO:0000269 PubMed:16882753, ECO:0000269 PubMed:17154279, ECO:0000269 PubMed:19820032, ECO:0000269 PubMed:21700882, ECO:0000269 PubMed:22927827, ECO:0000269 PubMed:23643382, ECO:0000269 PubMed:25077900, ECO:0000269 PubMed:26277103}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. Some patients carrying mutations in FGFR1 also have a mutation other HH-associated genes including DUSP6, FGF8, FGF17, FLRT3, GNRH1, GNRHR, HS6ST1, IL17RD, ANOS1, KISS1R, NSMF, PROKR2, SPRY4 and TACR3 (PubMed:23643382). {ECO:0000269 PubMed:23643382}.
  • Note=A chromosomal aberration involving FGFR1 may be a cause of stem cell leukemia lymphoma syndrome (SCLL). Translocation t(8;13)(p11;q12) with ZMYM2. SCLL usually presents as lymphoblastic lymphoma in association with a myeloproliferative disorder, often accompanied by pronounced peripheral eosinophilia and/or prominent eosinophilic infiltrates in the affected bone marrow. {ECO:0000269 PubMed:9716603}.
  • Note=A chromosomal aberration involving FGFR1 may be a cause of stem cell myeloproliferative disorder (MPD). Translocation t(6;8)(q27;p11) with FGFR1OP. Insertion ins(12;8)(p11;p11p22) with FGFR1OP2. MPD is characterized by myeloid hyperplasia, eosinophilia and T-cell or B-cell lymphoblastic lymphoma. In general it progresses to acute myeloid leukemia. The fusion proteins FGFR1OP2-FGFR1, FGFR1OP-FGFR1 or FGFR1-FGFR1OP may exhibit constitutive kinase activity and be responsible for the transforming activity. {ECO:0000269 PubMed:10688839, ECO:0000269 PubMed:15034873, ECO:0000269 PubMed:16946300, ECO:0000269 PubMed:17389761, ECO:0000269 PubMed:9949182}.
  • Note=A chromosomal aberration involving FGFR1 may be a cause of stem cell myeloproliferative disorder (MPD). Translocation t(8;9)(p12;q33) with CNTRL. MPD is characterized by myeloid hyperplasia, eosinophilia and T-cell or B-cell lymphoblastic lymphoma. In general it progresses to acute myeloid leukemia. The fusion protein CNTRL-FGFR1 is found in the cytoplasm, exhibits constitutive kinase activity and may be responsible for the transforming activity.
  • Osteoglophonic dysplasia (OGD) [MIM:166250]: Characterized by craniosynostosis, prominent supraorbital ridge, and depressed nasal bridge, as well as by rhizomelic dwarfism and nonossifying bone lesions. Inheritance is autosomal dominant. {ECO:0000269 PubMed:15625620, ECO:0000269 PubMed:16470795}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Pfeiffer syndrome (PS) [MIM:101600]: A syndrome characterized by the association of craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly of the fingers and toes. Three subtypes are known: mild autosomal dominant form (type 1); cloverleaf skull, elbow ankylosis, early death, sporadic (type 2); craniosynostosis, early demise, sporadic (type 3). {ECO:0000269 PubMed:7874169}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Trigonocephaly 1 (TRIGNO1) [MIM:190440]: A keel-shaped deformation of the forehead, caused by premature fusion of the metopic sutures. It results in a triangular shape of the head. {ECO:0000269 PubMed:11173846}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FGFR1

Genetic Association Database (GAD)
FGFR1
Human Genome Epidemiology (HuGE) Navigator
FGFR1
Tumor Gene Database (TGDB):
FGFR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FGFR1
genes like me logo Genes that share disorders with FGFR1: view

No data available for Genatlas for FGFR1 Gene

Publications for FGFR1 Gene

  1. The complete amino acid sequence of the shorter form of human basic fibroblast growth factor receptor deduced from its cDNA. (PMID: 2162671) Itoh N. … Seo M.K. (Biochem. Biophys. Res. Commun. 1990) 2 3 4 67
  2. Novel FGFR inhibitor ponatinib suppresses the growth of non-small cell lung cancer cells overexpressing FGFR1. (PMID: 23563700) Ren M. … Hao Z. (Oncol. Rep. 2013) 3 25
  3. Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification: detection of a hemizygosis for the fibroblast growth factor receptor 1. (PMID: 19489874) Trarbach E.B. … Latronico A.C. (Clin. Endocrinol. (Oxf) 2010) 3 23
  4. Novel insights in FGFR1 regulation: lessons from Kallmann syndrome. (PMID: 20117945) Hu Y. … Bouloux P.M. (Trends Endocrinol. Metab. 2010) 3 23
  5. Critical role of FLRT1 phosphorylation in the interdependent regulation of FLRT1 function and FGF receptor signalling. (PMID: 20421966) Wheldon L.M. … Heath J.K. (PLoS ONE 2010) 3 23

Products for FGFR1 Gene