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Aliases for FGFR1 Gene

Aliases for FGFR1 Gene

  • Fibroblast Growth Factor Receptor 1 2 3
  • FLT2 3 4 6
  • 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
  • HRTFDS 3 6
  • FGFR-1 3 4
  • N-SAM 3 4
  • BFGFR 3 4
  • FGFBR 3 4
  • FLT-2 3 4
  • HBGFR 3 4
  • KAL2 3 6
  • HH2 3 6
  • OGD 3 6
  • 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
  • CD331 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 hypogonadotropic hypogonadism 2 with or without anosmia and osteoglophonic dysplasia. Among its related pathways are PI3K-Akt signaling pathway and PI-3K cascade. GO annotations related to this gene include protein homodimerization activity and heparin binding. 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) (FGF1 - 10 and 16 - 23) are mitogenic signaling molecules that have roles in angiogenesis, wound healing, cell migration, neural outgrowth and embryonic development. FGFs bind heparan sulfate glycosaminoglycans (HSGAGs), which facilitates dimerization (activation) of FGF receptors (FGFRs). FGFRs are transmembrane catalytic receptors that have intracellular tyrosine kinase activity. There are four human genes encoding FGFRs, which produce seven different receptors (FGFR1b, FGFR1c, FGFR2b, FGFR2c, FGFR3b, FGFR3c and FGFR4) due to alternative splicing events occurring both in the extracellular and intracellular regions. The alternative splice isoforms are generally tissue specific: the b isoform is expressed in epithelial tissue, whereas the c isoform is expressed in mesenchymal tissue. HSGAG-FGF-FGFR binding initiates FGFR dimerization, enabling the cytoplasmic kinase domains to transphosphorylate tyrosine residues and become activated. HSGAGs also function to stabilize FGF-FGFR binding and prevent FGF degradation. FGFRs couple to the PLCgamma, MAPK and PI3-K/Akt intracellular signaling cascades and there is evidence of cross talk with the Notch signaling pathway. In addition, some activated FGF-FGFR complexes are endocytosed and function directly in the cytosol and/or nucleus of the cell. Mutations in FGFR genes are the cause of several human developmental disorders characterized by skeletal abnormalities such as achondroplasia, and upregulation of FGFR expression may lead to cell transformation and cancer.

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

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

Genomic Location for FGFR1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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). 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. Interacts (phosphorylated on Tyr-766) with PLCG1 (via SH2 domains). Interacts with FRS2. Interacts (via C-terminus) with NEDD4 (via WW3 domain). Interacts with KL (By similarity). Interacts with SHB (via SH2 domain) and GRB10. Interacts with KAL1; this interaction does not interfere with FGF2-binding to FGFR1, but prevents binding of heparin-bound FGF2. Interacts with SOX2 and SOX3 (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 Asn77, Asn117, Asn227, Asn240, Asn264, Asn296, Asn317, and Asn330
  • Modification sites at PhosphoSitePlus

Domains for FGFR1 Gene

Gene Families for FGFR1 Gene

Graphical View of Domain Structure for InterPro Entry

P11362

UniProtKB/Swiss-Prot:

FGFR1_HUMAN :
  • P11362
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:0004672 protein kinase activity --
GO:0004713 protein tyrosine kinase activity IDA 8622701
GO:0005007 fibroblast growth factor-activated receptor activity TAS 2167437
GO:0005515 protein binding IPI 10464310
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with FGFR1: view
genes like me logo Genes that share phenotypes with FGFR1: view

Animal Models for FGFR1 Gene

MGI Knock Outs for FGFR1:

No data available for Transcription Factor Targeting 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

Gene Ontology (GO) - Cellular Components for FGFR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS 1652059
GO:0005634 nucleus IEA --
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 10918587
genes like me logo Genes that share ontologies with FGFR1: view

Pathways for FGFR1 Gene

SuperPathways for FGFR1 Gene

Superpath Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
2 PI-3K cascade
3 Signaling by FGFR
4 FGFR ligand binding and activation
5 GPCR Pathway
genes like me logo Genes that share pathways with FGFR1: view

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 10748122
GO:0001501 skeletal system development TAS 7874169
GO:0001525 angiogenesis IEA --
GO:0001657 ureteric bud development IEA --
genes like me logo Genes that share ontologies with FGFR1: view

Compounds for FGFR1 Gene

(13) ApexBio Compounds for FGFR1 Gene

Compound Action Cas Number
AP26113 Dual inhibitor of anaplastic lymphoma kinase (ALK) and epidermal growth factor receptor (EGFR). [1197958-12-5]
AZD4547 Potent, selective, and ATP-competitive FGFR inhibitor [1035270-39-3]
BGJ398 FGFR inhibitor [872511-34-7]
Danusertib (PHA-739358) Pan-aurora kinase inhibitor [827318-97-8]
Dovitinib (TKI-258, CHIR-258) novel multitargeted growth factor receptor kinase inhibitor of FLT3, c-KIT, FGFR1/3, VEGFR1/2/3 [405169-16-6]
E-3810 novel dual inhibitor targeting VEGFRs and FGFRs [1058137-23-7]
Fenretinide synthetic retinoid deriverative. [65646-68-6]
LY2874455 novel and potent FGF/FGFR Inhibitor. [1254473-64-7]
Nintedanib (BIBF 1120) Multi-target kinase inhibitor, inhibits VEGFR, PDGFR, and FGFR [928326-83-4]
Pazopanib (GW-786034) Multi-target kinase inhibitor, inhibits VEGFR, PDGFR, and FGFR [635702-64-6]
PD 173074 Potent, ATP-competitive, and reversible FGFR inhibitor [219580-11-7]
Ponatinib (AP24534) pan-BCR-ABL inhibitor [943319-70-8]
SKLB610 Potent VEGFR inhibitor [1125780-41-7]

(4) Tocris Compounds for FGFR1 Gene

Compound Action Cas Number
FIIN 1 hydrochloride Potent, irreversible FGFR inhibitor [1256152-35-8]
PD 161570 Selective FGFR inhibitor [192705-80-9]
PD 173074 FGFR1 and -3 inhibitor [219580-11-7]
SUN 11602 Basic fibroblast growth factor (bFGF) mimetic; neuroprotective [704869-38-5]

(2) HMDB Compounds for FGFR1 Gene

Compound Synonyms Cas Number PubMed IDs
Heparin
  • Arteven
9005-49-6
L-Tyrosine
  • (-)-a-Amino-p-hydroxyhydrocinnamate
60-18-4

(61) Novoseek inferred chemical compound relationships for FGFR1 Gene

Compound -log(P) Hits PubMed IDs
su5402 83.5 11
su6668 76.7 8
tyrosine 75.7 129
heparan sulfate 60.9 14
heparin 53.1 43

(1) PharmGKB related drug/compound annotations for FGFR1 Gene

Drug/compound Annotation
pazopanib
genes like me logo Genes that share compounds with FGFR1: view

Transcripts for FGFR1 Gene

Unigene Clusters for FGFR1 Gene

Fibroblast growth factor receptor 1:
Representative Sequences:

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

Integrated Proteomics: protein expression 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 expressions with FGFR1: view

No data available for mRNA differential expression in normal tissues 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
chimpanzee
(Pan troglodytes)
Mammalia FGFR1 35
  • 99.76 (n)
  • 100 (a)
FGFR1 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia FGFR1 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FGFR1 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fgfr1 35
  • 89.51 (n)
  • 97.8 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia Xl.2751 35
tropical clawed frog
(Silurana tropicalis)
Amphibia fgfr1 35
  • 72.98 (n)
  • 79.95 (a)
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 36
  • 28 (a)
ManyToMany
htl 36
  • 36 (a)
ManyToMany
btl 37
  • 39 (a)
tor 37
  • 52 (a)
htl 37
  • 40 (a)
worm
(Caenorhabditis elegans)
Secernentea egl-15 36
  • 26 (a)
OneToMany
F59A3.8 37
  • 32 (a)
old-2 37
  • 36 (a)
ver-4 37
  • 28 (a)
ver-2 37
  • 38 (a)
R151.4 37
  • 38 (a)
R09D1.13 37
  • 32 (a)
kin-16 37
  • 34 (a)
kin-9 37
  • 38 (a)
ver-3 37
  • 33 (a)
F09G2.1 37
  • 33 (a)
C24G6.2a 37
  • 36 (a)
Y38H6C.20 37
  • 34 (a)
old-1 37
  • 36 (a)
R09D1.12 37
  • 35 (a)
W04G5.10 37
  • 36 (a)
Y50D4B.6 37
  • 34 (a)
kin-23 37
  • 35 (a)
C24G6.2b 37
  • 36 (a)
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

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 MAF
rs3925 -- 38,424,140(-) TGTGT(C/T)CTGAG intron-variant
rs13317 -- 38,411,996(+) AGCAC(C/T)GGCAA utr-variant-3-prime
rs328304 -- 38,468,880(+) ATAGC(A/T)GCGGT upstream-variant-2KB
rs328305 -- 38,468,952(+) GCTTT(C/G)GAGTC upstream-variant-2KB
rs328306 -- 38,469,999(-) tctcc(C/T)gacct upstream-variant-2KB

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

(6) OMIM Diseases for FGFR1 Gene (136350)

UniProtKB/Swiss-Prot

FGFR1_HUMAN
  • 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.
  • 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}. 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, KAL1, KISS1R, NSMF, PROKR2, SPRY4 and TACR3 (PubMed:23643382). {ECO:0000269 PubMed:23643382}.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.

(90) Novoseek inferred disease relationships for FGFR1 Gene

Disease -log(P) Hits PubMed IDs
kallmann syndrome 90.6 30
pfeiffer syndrome 86.1 16
craniosynostosis 81.3 36
jackson-weiss syndrome 74.2 1
myeloproliferative disorders 71.2 23

Relevant External Links for FGFR1

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Genetic Association Database (GAD)
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Tumor Gene Database (TGDB):
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Publications for FGFR1 Gene

  1. A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. (PMID: 7874169) Muenke M. … Winter R.M. (Nat. Genet. 1994) 3 4 23
  2. Identification of six novel autophosphorylation sites on fibroblast growth factor receptor 1 and elucidation of their importance in receptor activation and signal transduction. (PMID: 8622701) Mohammadi M. … Schlessinger J. (Mol. Cell. Biol. 1996) 3 4 23
  3. Structure of the FGF receptor tyrosine kinase domain reveals a novel autoinhibitory mechanism. (PMID: 8752212) Mohammadi M. … Hubbard S.R. (Cell 1996) 3 4 23
  4. Structures of the tyrosine kinase domain of fibroblast growth factor receptor in complex with inhibitors. (PMID: 9139660) Mohammadi M. … Schlessinger J. (Science 1997) 3 4 23
  5. The t(6;8)(q27;p11) translocation in a stem cell myeloproliferative disorder fuses a novel gene, FOP, to fibroblast growth factor receptor 1. (PMID: 9949182) Popovici C. … Pebusque M.-J. (Blood 1999) 3 4 23

Products for FGFR1 Gene

  • Addgene plasmids for FGFR1

Sources for FGFR1 Gene

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