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P11362

- FGFR1_HUMAN

UniProt

P11362 - FGFR1_HUMAN

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Protein

Fibroblast growth factor receptor 1

Gene

FGFR1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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.18 Publications

Catalytic activityi

ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.7 PublicationsPROSITE-ProRule annotation

Enzyme regulationi

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 PD173074.4 Publications

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei428 – 4292Breakpoint for translocation to form CNTRL-FGFR1 OR FGFR1-CNTRL fusion proteins
Sitei428 – 4292Breakpoint for translocation to form FGFR1OP-FGFR1 or FGFR1-FGFR1OP fusion proteins
Sitei428 – 4292Breakpoint for translocation to form FGFR1OP2-FGFR1
Binding sitei514 – 5141ATP
Binding sitei568 – 5681ATP
Active sitei623 – 6231Proton acceptor1 PublicationPROSITE-ProRule annotation
Binding sitei627 – 6271ATP
Binding sitei641 – 6411ATP
Sitei766 – 7661Mediates interaction with PLCG1 and SHB

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi484 – 4907ATP
Nucleotide bindingi562 – 5643ATP

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. fibroblast growth factor-activated receptor activity Source: UniProtKB
  3. fibroblast growth factor binding Source: UniProtKB
  4. heparin binding Source: UniProtKB
  5. identical protein binding Source: IntAct
  6. protein homodimerization activity Source: UniProtKB
  7. protein tyrosine kinase activity Source: UniProtKB

GO - Biological processi

  1. angiogenesis Source: Ensembl
  2. auditory receptor cell development Source: Ensembl
  3. axon guidance Source: Reactome
  4. branching involved in salivary gland morphogenesis Source: Ensembl
  5. cell maturation Source: Ensembl
  6. cell migration Source: UniProtKB
  7. chondrocyte differentiation Source: Ensembl
  8. chordate embryonic development Source: UniProtKB
  9. embryonic limb morphogenesis Source: Ensembl
  10. epidermal growth factor receptor signaling pathway Source: Reactome
  11. Fc-epsilon receptor signaling pathway Source: Reactome
  12. fibroblast growth factor receptor signaling pathway Source: UniProtKB
  13. fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development Source: Ensembl
  14. innate immune response Source: Reactome
  15. inner ear morphogenesis Source: Ensembl
  16. insulin receptor signaling pathway Source: Reactome
  17. in utero embryonic development Source: Ensembl
  18. lung-associated mesenchyme development Source: Ensembl
  19. MAPK cascade Source: ProtInc
  20. mesenchymal cell differentiation Source: Ensembl
  21. midbrain development Source: Ensembl
  22. middle ear morphogenesis Source: Ensembl
  23. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
  24. neuron migration Source: UniProtKB
  25. neurotrophin TRK receptor signaling pathway Source: Reactome
  26. organ induction Source: Ensembl
  27. outer ear morphogenesis Source: Ensembl
  28. paraxial mesoderm development Source: Ensembl
  29. peptidyl-tyrosine phosphorylation Source: UniProtKB
  30. phosphatidylinositol-mediated signaling Source: UniProtKB
  31. positive regulation of cardiac muscle cell proliferation Source: Ensembl
  32. positive regulation of cell cycle Source: Ensembl
  33. positive regulation of cell proliferation Source: UniProtKB
  34. positive regulation of MAPK cascade Source: UniProtKB
  35. positive regulation of MAP kinase activity Source: UniProtKB
  36. positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway Source: Ensembl
  37. positive regulation of mesenchymal cell proliferation Source: Ensembl
  38. positive regulation of neuron differentiation Source: UniProtKB
  39. positive regulation of neuron projection development Source: Ensembl
  40. positive regulation of phosphatidylinositol 3-kinase signaling Source: UniProtKB
  41. positive regulation of phospholipase activity Source: UniProtKB
  42. positive regulation of phospholipase C activity Source: UniProtKB
  43. protein autophosphorylation Source: UniProtKB
  44. protein phosphorylation Source: UniProtKB
  45. regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling Source: Ensembl
  46. regulation of cell differentiation Source: UniProtKB
  47. regulation of extrinsic apoptotic signaling pathway in absence of ligand Source: Ensembl
  48. regulation of lateral mesodermal cell fate specification Source: Ensembl
  49. sensory perception of sound Source: Ensembl
  50. skeletal system development Source: ProtInc
  51. skeletal system morphogenesis Source: UniProtKB
  52. transcription, DNA-templated Source: UniProtKB-KW
  53. ureteric bud development Source: Ensembl
  54. ventricular zone neuroblast division Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Kinase, Receptor, Transferase, Tyrosine-protein kinase

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

ATP-binding, Heparin-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDAi2.7.10.1. 2681.
ReactomeiREACT_111184. Negative regulation of FGFR signaling.
REACT_120827. Signaling by FGFR1 amplification mutants.
REACT_121153. Signaling by activated point mutants of FGFR1.
REACT_121398. Signaling by FGFR mutants.
REACT_147727. Constitutive PI3K/AKT Signaling in Cancer.
REACT_18334. NCAM signaling for neurite out-growth.
REACT_21247. FRS2-mediated cascade.
REACT_21270. PI-3K cascade.
REACT_21310. Phospholipase C-mediated cascade.
REACT_21374. SHC-mediated cascade.
REACT_22272. Signal transduction by L1.
REACT_75829. PIP3 activates AKT signaling.
REACT_9484. FGFR1c and Klotho ligand binding and activation.
REACT_9515. FGFR1c ligand binding and activation.
REACT_976. PI3K Cascade.
SignaLinkiP11362.

Names & Taxonomyi

Protein namesi
Recommended name:
Fibroblast growth factor receptor 1 (EC:2.7.10.1)
Short name:
FGFR-1
Alternative name(s):
Basic fibroblast growth factor receptor 1
Short name:
BFGFR
Short name:
bFGF-R-1
Fms-like tyrosine kinase 2
Short name:
FLT-2
N-sam
Proto-oncogene c-Fgr
CD_antigen: CD331
Gene namesi
Name:FGFR1
Synonyms:BFGFR, CEK, FGFBR, FLG, FLT2, HBGFR
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:3688. FGFR1.

Subcellular locationi

Cell membrane; Single-pass type I membrane protein. Nucleus. Cytoplasmcytosol. 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.

GO - Cellular componenti

  1. cytoplasmic vesicle Source: UniProtKB-KW
  2. extracellular region Source: UniProtKB
  3. integral component of membrane Source: UniProtKB
  4. integral component of plasma membrane Source: ProtInc
  5. nucleus Source: UniProtKB-KW
  6. plasma membrane Source: UniProtKB
  7. receptor complex Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoplasmic vesicle, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

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).1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti252 – 2521P → R in PS; seems to be a gain of function. 1 Publication
VAR_004111
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).13 Publications
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).1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti48 – 481G → S in HH2; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism. 1 Publication
VAR_030968
Natural varianti78 – 781R → C in HH2. 1 Publication
VAR_030970
Natural varianti97 – 971G → D in HH2. 1 Publication
VAR_017885
Natural varianti99 – 991Y → C in HH2; impairs the tertiary folding resulting in incomplete glycosylation and reduced cell surface expression. 2 Publications
VAR_017886
Natural varianti101 – 1011C → F in HH2. 1 Publication
VAR_030971
Natural varianti102 – 1021V → I in HH2. 2 Publications
Corresponds to variant rs55642501 [ dbSNP | Ensembl ].
VAR_030972
Natural varianti117 – 1171N → S in HH2; some patients also carry GNRHR mutations. 2 Publications
VAR_069288
Natural varianti129 – 1291D → A in HH2. 1 Publication
VAR_030973
Natural varianti167 – 1671A → S in HH2; with cleft palate, corpus callosum agenesis, unilateral deafness and fusion of fourth and fifth metacarpal bones. 1 Publication
VAR_017887
Natural varianti178 – 1781C → S in HH2; with severe ear anomalies. 1 Publication
VAR_030974
Natural varianti224 – 2241D → H in HH2. 1 Publication
VAR_030976
Natural varianti228 – 2281Y → D in HH2; some patients also carry KISS1R mutations; impairs the tertiary folding resulting in incomplete glycosylation and reduced cell surface expression. 2 Publications
VAR_069289
Natural varianti237 – 2371G → D in HH2. 1 Publication
VAR_030977
Natural varianti237 – 2371G → S in HH2; with or without anosmia; also found in a family member with isolated anosmia; may impair proper folding. 1 Publication
VAR_030978
Natural varianti239 – 2391I → T in HH2; some patients also carry PROKR2 and GNRH1 mutations; impairs the tertiary folding resulting in incomplete glycosylation and reduced cell surface expression. 2 Publications
VAR_069290
Natural varianti245 – 2451L → P in HH2. 1 Publication
VAR_030979
Natural varianti250 – 2501R → Q in HH2; with or without anosmia; results in Kallmann syndrome in the presence of HS6ST1 mutation TRP-306; reduces receptor affinity for fibroblast growth factor. 3 Publications
VAR_069291
Natural varianti250 – 2501R → W in HH2. 2 Publications
VAR_030980
Natural varianti254 – 2541R → Q in HH2. 1 Publication
VAR_030981
Natural varianti270 – 2701G → D in HH2. 1 Publication
VAR_030982
Natural varianti273 – 2731V → M in HH2. 2 Publications
VAR_030983
Natural varianti274 – 2741E → G in HH2; also found in a family member with isolated anosmia.
VAR_030984
Natural varianti277 – 2771C → Y in HH2. 1 Publication
VAR_017888
Natural varianti283 – 2831P → R in HH2. 1 Publication
VAR_030985
Natural varianti332 – 3321S → C in HH2. 1 Publication
VAR_030988
Natural varianti339 – 3391Y → C in HH2. 1 Publication
VAR_030989
Natural varianti342 – 3421L → S in HH2; phenotype consistent with Kallmann syndrome; the patient also carries a splice site mutation in NSMF. 1 Publication
VAR_069954
Natural varianti343 – 3431A → V in HH2. 1 Publication
VAR_030990
Natural varianti346 – 3461S → C in HH2; also found in a family member with isolated anosmia. 1 Publication
VAR_030991
Natural varianti348 – 3481G → R in HH2; phenotype consistent with Kallmann syndrome; the patient also carries a mutation in IL17RD. 1 Publication
VAR_069955
Natural varianti366 – 3661P → L in HH2; with or without anosmia. 1 Publication
VAR_030992
Natural varianti470 – 4701R → L in HH2; some patients also carry GNRHR mutations. 2 Publications
VAR_069292
Natural varianti483 – 4831P → T in HH2; phenotype consistent with Kallmann syndrome; the patient also carries a rare variant in SPRY4. 1 Publication
VAR_069956
Natural varianti520 – 5201A → T in HH2. 1 Publication
VAR_030995
Natural varianti538 – 5381I → V in HH2. 1 Publication
VAR_030996
Natural varianti607 – 6071V → M in HH2; with bimanual synkinesis. 1 Publication
VAR_017889
Natural varianti618 – 6181K → N in HH2; some patients also carry GNRHR mutations; impairs tyrosine kinase activity. 2 Publications
VAR_069293
Natural varianti621 – 6211H → R in HH2. 1 Publication
VAR_030997
Natural varianti622 – 6221R → G in HH2; with severe ear anomalies. 1 Publication
VAR_030998
Natural varianti622 – 6221R → Q in HH2. 1 Publication
VAR_030999
Natural varianti666 – 6661W → R in HH2; with cleft palate. 1 Publication
VAR_017890
Natural varianti670 – 6701E → K in HH2; phenotype consistent with Kallmann syndrome; the patient also carries a rare variant in FLRT3. 1 Publication
VAR_069957
Natural varianti671 – 6711A → P in HH2. 1 Publication
VAR_069294
Natural varianti685 – 6851S → F in HH2. 1 Publication
VAR_031000
Natural varianti687 – 6871G → R in HH2. 2 Publications
VAR_031001
Natural varianti692 – 6921E → G in HH2; phenotype consistent with Kallmann syndrome; the patient also carries a rare variant in DUSP6. 1 Publication
VAR_069958
Natural varianti693 – 6931I → F in HH2. 1 Publication
VAR_031002
Natural varianti703 – 7031G → R in HH2. 1 Publication
VAR_031003
Natural varianti703 – 7031G → S in HH2. 1 Publication
VAR_031004
Natural varianti719 – 7191M → R in HH2. 1 Publication
VAR_017891
Natural varianti722 – 7221P → H in HH2; associated with K-724; also found in a family member with isolated anosmia; reduced tyrosine kinase activity. 2 Publications
VAR_031005
Natural varianti722 – 7221P → S in HH2. 1 Publication
VAR_031006
Natural varianti724 – 7241N → K in HH2; associated with H-722; also found in a family member with isolated anosmia; reduced tyrosine kinase activity. 2 Publications
VAR_031007
Natural varianti745 – 7451P → S in HH2. 2 Publications
VAR_031008
Natural varianti768 – 7681D → Y in HH2; the patient also carries a rare variant in FGF8. 1 Publication
VAR_069959
Natural varianti772 – 7721P → S in HH2; with cleft palate, unilateral absence of nasal cartilage, iris coloboma. 2 Publications
Corresponds to variant rs56234888 [ dbSNP | Ensembl ].
VAR_017892
Natural varianti795 – 7951V → I in HH2; also found in a family member with isolated anosmia. 1 Publication
VAR_031010
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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti330 – 3301N → I in OGD. 2 Publications
VAR_030987
Natural varianti374 – 3741Y → C in OGD; elevated basal activity and increased FGF2-mediated activity. 1 Publication
VAR_030993
Natural varianti381 – 3811C → R in OGD. 2 Publications
VAR_030994
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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti165 – 1651L → S in HRTFDS. 1 Publication
VAR_070851
Natural varianti191 – 1911L → S in HRTFDS. 1 Publication
VAR_070852
Natural varianti490 – 4901G → R in HRTFDS. 1 Publication
VAR_070853
Natural varianti623 – 6231D → Y in HRTFDS. 1 Publication
VAR_070854
Natural varianti627 – 6271R → T in HRTFDS. 1 Publication
VAR_071460
Natural varianti628 – 6281N → K in HRTFDS. 1 Publication
VAR_070855
Natural varianti725 – 7251C → Y in HRTFDS. 1 Publication
VAR_070856
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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti300 – 3001I → T in TRIGNO1. 1 Publication
VAR_030986
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.
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.
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.

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi514 – 5141K → A: Loss of kinase activity. 1 Publication
Mutagenesisi546 – 5461N → K: Strongly increased speed of the first autophosphorylation, and loss of the normal sequential order of autophosphorylation. 1 Publication
Mutagenesisi577 – 5771R → E: Strongly reduced autophosphorylation in response to FGF signaling. No effect on in vitro kinase activity. 1 Publication
Mutagenesisi609 – 6091R → V: Abolishes interaction with PLCG1.
Mutagenesisi623 – 6231D → A: Loss of kinase activity. 1 Publication
Mutagenesisi653 – 6531Y → F: No effect on kinase activity. Loss of autophosphorylation and kinase activity; when associated with F-654. 1 Publication
Mutagenesisi654 – 6541Y → F: Reduced kinase activity. Loss of autophosphorylation and kinase activity; when associated with F-653. 1 Publication
Mutagenesisi755 – 7551D → V: Abolishes interaction with PLCG1.
Mutagenesisi766 – 7661Y → F: Abolishes interaction with PLCG1 and SHB. Decreases phosphorylation of FRS2, activation of RAS and MAP kinase signaling and stimulation of cell proliferation. 4 Publications

Keywords - Diseasei

Craniosynostosis, Disease mutation, Dwarfism, Holoprosencephaly, Hypogonadotropic hypogonadism, Kallmann syndrome, Mental retardation

Organism-specific databases

MIMi101600. phenotype.
147950. phenotype.
166250. phenotype.
190440. phenotype.
615465. phenotype.
Orphaneti251579. Giant cell glioblastoma.
251576. Gliosarcoma.
2117. Hartsfield-Bixler-Demyer syndrome.
2227. Hypodontia.
3366. Isolated trigonocephaly.
478. Kallmann syndrome.
168953. Myeloid neoplasm associated with FGFR1 rearrangement.
432. Normosmic congenital hypogonadotropic hypogonadism.
99798. Oligodontia.
2645. Osteoglophonic dwarfism.
93258. Pfeiffer syndrome type 1.
251612. Pilocytic astrocytoma.
3157. Septo-optic dysplasia.
PharmGKBiPA28127.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2121Add
BLAST
Chaini22 – 822801Fibroblast growth factor receptor 1PRO_0000016780Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi55 ↔ 101PROSITE-ProRule annotation
Glycosylationi77 – 771N-linked (GlcNAc...)Sequence Analysis
Glycosylationi117 – 1171N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi178 ↔ 230
Glycosylationi227 – 2271N-linked (GlcNAc...)Sequence Analysis
Glycosylationi240 – 2401N-linked (GlcNAc...)Sequence Analysis
Glycosylationi264 – 2641N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi277 ↔ 341
Glycosylationi296 – 2961N-linked (GlcNAc...)1 Publication
Glycosylationi317 – 3171N-linked (GlcNAc...)Sequence Analysis
Glycosylationi330 – 3301N-linked (GlcNAc...)Sequence Analysis
Modified residuei463 – 4631Phosphotyrosine; by autocatalysis3 Publications
Modified residuei583 – 5831Phosphotyrosine; by autocatalysis3 Publications
Modified residuei585 – 5851Phosphotyrosine; by autocatalysis3 Publications
Modified residuei653 – 6531Phosphotyrosine; by autocatalysis4 Publications
Modified residuei654 – 6541Phosphotyrosine; by autocatalysis4 Publications
Modified residuei730 – 7301Phosphotyrosine; by autocatalysis2 Publications
Modified residuei766 – 7661Phosphotyrosine; by autocatalysis1 Publication

Post-translational modificationi

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.4 Publications
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 FGFR1.2 Publications
N-glycosylated in the endoplasmic reticulum. The N-glycan chains undergo further maturation to an Endo H-resistant form in the Golgi apparatus.3 Publications

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein, Ubl conjugation

Proteomic databases

MaxQBiP11362.
PaxDbiP11362.
PRIDEiP11362.

PTM databases

PhosphoSiteiP11362.

Miscellaneous databases

PMAP-CutDBP11362.

Expressioni

Tissue specificityi

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.1 Publication

Gene expression databases

BgeeiP11362.
CleanExiHS_FGFR1.
HS_FLG.
ExpressionAtlasiP11362. baseline and differential.
GenevestigatoriP11362.

Organism-specific databases

HPAiCAB033614.
HPA056402.

Interactioni

Subunit structurei

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.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
itself3EBI-1028277,EBI-1028277
CDH1P128303EBI-1028277,EBI-727477
CRKP461082EBI-1028277,EBI-886
CTNNB1P352222EBI-1028277,EBI-491549
FGF1P052303EBI-1028277,EBI-698068
FGF2P090384EBI-1028277,EBI-977447
Grb14O889003EBI-1028277,EBI-7639197From a different organism.
HTR1AP0890811EBI-1028277,EBI-6570214
KAL1P233527EBI-1028277,EBI-5272188
NEDD4P4693426EBI-1028277,EBI-726944
NOSTRINQ8IVI95EBI-1028277,EBI-1391643
PIK3R1P279865EBI-1028277,EBI-79464
PLCG1P191745EBI-1028277,EBI-79387
Plcg1P106864EBI-1028277,EBI-520788From a different organism.

Protein-protein interaction databases

BioGridi108551. 44 interactions.
DIPiDIP-4019N.
IntActiP11362. 26 interactions.
MINTiMINT-1499363.

Structurei

Secondary structure

1
822
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi40 – 423
Beta strandi51 – 544
Beta strandi63 – 7210
Beta strandi77 – 815
Beta strandi83 – 886
Turni93 – 953
Beta strandi97 – 1059
Beta strandi108 – 1169
Beta strandi151 – 1566
Helixi158 – 1614
Helixi165 – 18319
Beta strandi187 – 1926
Helixi199 – 2013
Beta strandi207 – 2093
Turni210 – 2134
Beta strandi214 – 2196
Helixi222 – 2243
Beta strandi226 – 2349
Beta strandi237 – 24812
Beta strandi265 – 2673
Beta strandi273 – 2764
Beta strandi286 – 2938
Beta strandi295 – 2973
Beta strandi306 – 3138
Helixi320 – 3234
Beta strandi325 – 3284
Helixi333 – 3353
Beta strandi337 – 3448
Beta strandi349 – 35810
Helixi460 – 4623
Turni469 – 4713
Helixi475 – 4773
Beta strandi478 – 4836
Helixi485 – 4873
Beta strandi492 – 4987
Beta strandi501 – 5033
Beta strandi510 – 5167
Helixi522 – 53817
Beta strandi547 – 5515
Beta strandi553 – 5564
Beta strandi558 – 5625
Helixi569 – 5746
Beta strandi579 – 5835
Beta strandi585 – 5884
Helixi591 – 5933
Helixi597 – 61620
Helixi626 – 6283
Beta strandi629 – 6313
Beta strandi637 – 6393
Turni643 – 6453
Helixi648 – 6503
Beta strandi658 – 6603
Helixi663 – 6664
Helixi669 – 6746
Beta strandi676 – 6783
Helixi679 – 69416
Helixi706 – 7149
Helixi727 – 73610
Helixi741 – 7433
Helixi747 – 76014

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1AGWX-ray2.40A/B456-765[»]
1CVSX-ray2.80C/D141-365[»]
1EVTX-ray2.80C/D141-365[»]
1FGIX-ray2.50A/B456-765[»]
1FGKX-ray2.00A/B456-765[»]
1FQ9X-ray3.00C/D141-365[»]
1XR0NMR-A409-430[»]
2CR3NMR-A38-123[»]
2FGIX-ray2.50A/B456-765[»]
3C4FX-ray2.07A/B464-765[»]
3DPKX-ray1.95A577-615[»]
3GQIX-ray2.50A458-774[»]
3GQLX-ray2.80A/B/C458-774[»]
3JS2X-ray2.20A/B458-765[»]
3KRJX-ray2.10A577-597[»]
3KRLX-ray2.40A577-597[»]
3KXXX-ray3.20A/B/C/D458-765[»]
3KY2X-ray2.70A/B458-765[»]
3OJVX-ray2.60C/D142-365[»]
3RHXX-ray2.01A/B461-765[»]
3TT0X-ray2.80A/B456-765[»]
3WJ6X-ray2.15A/B456-765[»]
4F63X-ray2.55A/B458-765[»]
4F64X-ray2.05A/B458-765[»]
4F65X-ray2.26A/B458-765[»]
4NK9X-ray2.57A/B458-765[»]
4NKAX-ray2.19A/B458-765[»]
4NKSX-ray2.50A/B458-765[»]
ProteinModelPortaliP11362.
SMRiP11362. Positions 38-385, 420-801.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP11362.

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini22 – 376355ExtracellularSequence AnalysisAdd
BLAST
Topological domaini398 – 822425CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei377 – 39721HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini25 – 11995Ig-like C2-type 1Add
BLAST
Domaini158 – 24689Ig-like C2-type 2Add
BLAST
Domaini255 – 357103Ig-like C2-type 3Add
BLAST
Domaini478 – 767290Protein kinasePROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni160 – 17718Heparin-bindingAdd
BLAST

Domaini

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.

Sequence similaritiesi

Belongs to the protein kinase superfamily. Tyr protein kinase family. Fibroblast growth factor receptor subfamily.PROSITE-ProRule annotation
Contains 1 protein kinase domain.PROSITE-ProRule annotation

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0515.
GeneTreeiENSGT00760000118923.
HOGENOMiHOG000263410.
HOVERGENiHBG000345.
InParanoidiP11362.
KOiK04362.
OMAiIVYKMKS.
OrthoDBiEOG7NGQ9N.
PhylomeDBiP11362.
TreeFamiTF316307.

Family and domain databases

Gene3Di2.60.40.10. 3 hits.
InterProiIPR028174. FGF_rcpt_1/4.
IPR016248. FGF_rcpt_fam.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003598. Ig_sub2.
IPR011009. Kinase-like_dom.
IPR000719. Prot_kinase_dom.
IPR017441. Protein_kinase_ATP_BS.
IPR001245. Ser-Thr/Tyr_kinase_cat_dom.
IPR008266. Tyr_kinase_AS.
IPR020635. Tyr_kinase_cat_dom.
[Graphical view]
PANTHERiPTHR24416:SF131. PTHR24416:SF131. 1 hit.
PfamiPF07679. I-set. 3 hits.
PF07714. Pkinase_Tyr. 1 hit.
[Graphical view]
PIRSFiPIRSF000628. FGFR. 1 hit.
PRINTSiPR00109. TYRKINASE.
SMARTiSM00408. IGc2. 3 hits.
SM00219. TyrKc. 1 hit.
[Graphical view]
SUPFAMiSSF56112. SSF56112. 1 hit.
PROSITEiPS50835. IG_LIKE. 3 hits.
PS00107. PROTEIN_KINASE_ATP. 1 hit.
PS50011. PROTEIN_KINASE_DOM. 1 hit.
PS00109. PROTEIN_KINASE_TYR. 1 hit.
[Graphical view]

Sequences (21)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 21 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P11362-1) [UniParc]FASTAAdd to Basket

Also known as: Alpha A1, IV

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MWSWKCLLFW AVLVTATLCT ARPSPTLPEQ AQPWGAPVEV ESFLVHPGDL
60 70 80 90 100
LQLRCRLRDD VQSINWLRDG VQLAESNRTR ITGEEVEVQD SVPADSGLYA
110 120 130 140 150
CVTSSPSGSD TTYFSVNVSD ALPSSEDDDD DDDSSSEEKE TDNTKPNRMP
160 170 180 190 200
VAPYWTSPEK MEKKLHAVPA AKTVKFKCPS SGTPNPTLRW LKNGKEFKPD
210 220 230 240 250
HRIGGYKVRY ATWSIIMDSV VPSDKGNYTC IVENEYGSIN HTYQLDVVER
260 270 280 290 300
SPHRPILQAG LPANKTVALG SNVEFMCKVY SDPQPHIQWL KHIEVNGSKI
310 320 330 340 350
GPDNLPYVQI LKTAGVNTTD KEMEVLHLRN VSFEDAGEYT CLAGNSIGLS
360 370 380 390 400
HHSAWLTVLE ALEERPAVMT SPLYLEIIIY CTGAFLISCM VGSVIVYKMK
410 420 430 440 450
SGTKKSDFHS QMAVHKLAKS IPLRRQVTVS ADSSASMNSG VLLVRPSRLS
460 470 480 490 500
SSGTPMLAGV SEYELPEDPR WELPRDRLVL GKPLGEGCFG QVVLAEAIGL
510 520 530 540 550
DKDKPNRVTK VAVKMLKSDA TEKDLSDLIS EMEMMKMIGK HKNIINLLGA
560 570 580 590 600
CTQDGPLYVI VEYASKGNLR EYLQARRPPG LEYCYNPSHN PEEQLSSKDL
610 620 630 640 650
VSCAYQVARG MEYLASKKCI HRDLAARNVL VTEDNVMKIA DFGLARDIHH
660 670 680 690 700
IDYYKKTTNG RLPVKWMAPE ALFDRIYTHQ SDVWSFGVLL WEIFTLGGSP
710 720 730 740 750
YPGVPVEELF KLLKEGHRMD KPSNCTNELY MMMRDCWHAV PSQRPTFKQL
760 770 780 790 800
VEDLDRIVAL TSNQEYLDLS MPLDQYSPSF PDTRSSTCSS GEDSVFSHEP
810 820
LPEEPCLPRH PAQLANGGLK RR
Length:822
Mass (Da):91,868
Last modified:May 1, 1991 - v3
Checksum:i93A01B5D78C3E72C
GO
Isoform 2 (identifier: P11362-8) [UniParc]FASTAAdd to Basket

Also known as: Alpha A2

The sequence of this isoform differs from the canonical sequence as follows:
     619-662: CIHRDLAARN...YYKKTTNGRL → VWNLKAPLVH...RTGHSPHRLL
     663-822: Missing.

Show »
Length:662
Mass (Da):73,475
Checksum:iE9419E4DCB3D8A15
GO
Isoform 3 (identifier: P11362-17) [UniParc]FASTAAdd to Basket

Also known as: Alpha A3

The sequence of this isoform differs from the canonical sequence as follows:
     32-61: QPWGAPVEVESFLVHPGDLLQLRCRLRDDV → CPDLQEAKSCSASFHSITPLPFGLGTRLSD
     62-822: Missing.

Show »
Length:61
Mass (Da):6,682
Checksum:i13F5DEE578AF5D86
GO
Isoform 4 (identifier: P11362-2) [UniParc]FASTAAdd to Basket

Also known as: Alpha B1

The sequence of this isoform differs from the canonical sequence as follows:
     428-429: Missing.

Show »
Length:820
Mass (Da):91,668
Checksum:i16B07518ECFC98F5
GO
Isoform 5 (identifier: P11362-9) [UniParc]FASTAAdd to Basket

Also known as: Alpha B2

The sequence of this isoform differs from the canonical sequence as follows:
     428-429: Missing.
     619-662: CIHRDLAARN...YYKKTTNGRL → VWNLKAPLVH...RTGHSPHRLL
     663-822: Missing.

Show »
Length:660
Mass (Da):73,274
Checksum:i2D2E9EEAC7BDDE3F
GO
Isoform 6 (identifier: P11362-3) [UniParc]FASTAAdd to Basket

Also known as: Beta A1, II, H2

The sequence of this isoform differs from the canonical sequence as follows:
     31-119: Missing.

Show »
Length:733
Mass (Da):82,162
Checksum:iED3CD2B1CA825F7E
GO
Isoform 7 (identifier: P11362-10) [UniParc]FASTAAdd to Basket

Also known as: Beta A2

The sequence of this isoform differs from the canonical sequence as follows:
     31-119: Missing.
     619-662: CIHRDLAARN...YYKKTTNGRL → VWNLKAPLVH...RTGHSPHRLL
     663-822: Missing.

Show »
Length:573
Mass (Da):63,769
Checksum:iBA9898B9E682D31C
GO
Isoform 8 (identifier: P11362-4) [UniParc]FASTAAdd to Basket

Also known as: Beta B1

The sequence of this isoform differs from the canonical sequence as follows:
     31-119: Missing.
     428-429: Missing.

Show »
Length:731
Mass (Da):81,962
Checksum:iEF5CC75954AEC7FC
GO
Isoform 9 (identifier: P11362-11) [UniParc]FASTAAdd to Basket

Also known as: Beta B2

The sequence of this isoform differs from the canonical sequence as follows:
     31-119: Missing.
     428-429: Missing.
     619-662: CIHRDLAARN...YYKKTTNGRL → VWNLKAPLVH...RTGHSPHRLL
     663-822: Missing.

Show »
Length:571
Mass (Da):63,569
Checksum:i0BDAB3559EB4B141
GO
Isoform 10 (identifier: P11362-5) [UniParc]FASTAAdd to Basket

Also known as: Gamma A1

The sequence of this isoform differs from the canonical sequence as follows:
     1-160: Missing.

Show »
Length:662
Mass (Da):74,133
Checksum:iF51EB57977705DE1
GO
Isoform 11 (identifier: P11362-12) [UniParc]FASTAAdd to Basket

Also known as: Gamma A2

The sequence of this isoform differs from the canonical sequence as follows:
     1-160: Missing.
     619-662: CIHRDLAARN...YYKKTTNGRL → VWNLKAPLVH...RTGHSPHRLL
     663-822: Missing.

Show »
Length:502
Mass (Da):55,740
Checksum:i3D3E866B4D4CEBEF
GO
Isoform 12 (identifier: P11362-6) [UniParc]FASTAAdd to Basket

Also known as: Gamma B1

The sequence of this isoform differs from the canonical sequence as follows:
     1-160: Missing.
     428-429: Missing.

Show »
Length:660
Mass (Da):73,933
Checksum:iE8947AAB5631D58E
GO
Isoform 13 (identifier: P11362-13) [UniParc]FASTAAdd to Basket

Also known as: Gamma B2

The sequence of this isoform differs from the canonical sequence as follows:
     1-160: Missing.
     428-429: Missing.
     619-662: CIHRDLAARN...YYKKTTNGRL → VWNLKAPLVH...RTGHSPHRLL
     663-822: Missing.

Show »
Length:500
Mass (Da):55,540
Checksum:iD508189BA6475745
GO
Isoform 14 (identifier: P11362-7) [UniParc]FASTAAdd to Basket

Also known as: A, III

The sequence of this isoform differs from the canonical sequence as follows:
     148-149: Missing.

Show »
Length:820
Mass (Da):91,580
Checksum:i4644ADCC15A696FD
GO
Isoform 15 (identifier: P11362-14) [UniParc]FASTAAdd to Basket

Also known as: I, H3

The sequence of this isoform differs from the canonical sequence as follows:
     31-119: Missing.
     148-149: Missing.

Show »
Length:731
Mass (Da):81,875
Checksum:iBFA81F8DADF4C9F4
GO
Isoform 16 (identifier: P11362-15) [UniParc]FASTAAdd to Basket

Also known as: V

The sequence of this isoform differs from the canonical sequence as follows:
     120-150: DALPSSEDDDDDDDSSSEEKETDNTKPNRMP → ACPDLQEAKWCSASFHSITPLPFGLGTRLSD
     151-822: Missing.

Show »
Length:150
Mass (Da):16,487
Checksum:iBA69FDD207CBBDFB
GO
Isoform 17 (identifier: P11362-16) [UniParc]FASTAAdd to Basket

Also known as: H4

The sequence of this isoform differs from the canonical sequence as follows:
     31-119: Missing.
     313-391: TAGVNTTDKE...TGAFLISCMV → VIMAPVFVGQ...RAAGMGGAGL
     392-822: Missing.

Show »
Length:302
Mass (Da):33,412
Checksum:iA2FF0FB217358001
GO
Isoform 18 (identifier: P11362-18) [UniParc]FASTAAdd to Basket

Also known as: H5

The sequence of this isoform differs from the canonical sequence as follows:
     31-119: Missing.
     148-149: Missing.
     313-391: TAGVNTTDKE...TGAFLISCMV → VIMAPVFVGQ...RAAGMGGAGL
     392-822: Missing.

Show »
Length:300
Mass (Da):33,125
Checksum:i00836E542E75EFA3
GO
Isoform 19 (identifier: P11362-19) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     119-119: S → SVPI
     148-149: Missing.
     313-360: TAGVNTTDKE...HHSAWLTVLE → HSGINSSDAE...QSAWLTVTRP

Show »
Length:822
Mass (Da):91,760
Checksum:i657DE58FE3072EA2
GO
Isoform 20 (identifier: P11362-20) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-30: MWSWKCLLFWAVLVTATLCTARPSPTLPEQ → MAAVTRDFGEMLLHSGRVLPAE
     427-428: Missing.

Show »
Length:812
Mass (Da):90,618
Checksum:i817D54D21F3669F0
GO
Isoform 21 (identifier: P11362-21) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MEARVSLKRRIELTVEYPWRCGALSPTSNCRTGM
     148-149: Missing.

Show »
Length:853
Mass (Da):95,344
Checksum:iADA3C30F9F9DE084
GO

Sequence cautioni

The sequence BAD92156.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti24 – 241S → C in AAA35958. (PubMed:1846977)Curated
Sequence conflicti24 – 241S → C in AAA35959. (PubMed:1846977)Curated
Sequence conflicti192 – 1921K → E in AAA35837. (PubMed:2167437)Curated
Sequence conflicti194 – 1941G → S in AAA35835. (PubMed:1722683)Curated
Sequence conflicti196 – 1961E → G no nucleotide entry (PubMed:7520751)Curated
Sequence conflicti223 – 2231S → F in BAD96438. 1 PublicationCurated
Sequence conflicti308 – 3081V → A in AAA35958. (PubMed:1846977)Curated
Sequence conflicti308 – 3081V → A in AAA35959. (PubMed:1846977)Curated
Sequence conflicti364 – 3641E → Q in CAA68679. 1 PublicationCurated
Sequence conflicti469 – 4691P → L in AAA75007. (PubMed:2162671)Curated
Sequence conflicti482 – 4821K → R in BAD96438. 1 PublicationCurated
Sequence conflicti576 – 5761R → W in BAD96438. 1 PublicationCurated
Sequence conflicti817 – 8171G → R in CAA36101. (PubMed:2159626)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti22 – 221R → S.1 Publication
Corresponds to variant rs17175750 [ dbSNP | Ensembl ].
VAR_019290
Natural varianti48 – 481G → S in HH2; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism. 1 Publication
VAR_030968
Natural varianti77 – 771N → K.1 Publication
VAR_030969
Natural varianti78 – 781R → C in HH2. 1 Publication
VAR_030970
Natural varianti97 – 971G → D in HH2. 1 Publication
VAR_017885
Natural varianti99 – 991Y → C in HH2; impairs the tertiary folding resulting in incomplete glycosylation and reduced cell surface expression. 2 Publications
VAR_017886
Natural varianti101 – 1011C → F in HH2. 1 Publication
VAR_030971
Natural varianti102 – 1021V → I in HH2. 2 Publications
Corresponds to variant rs55642501 [ dbSNP | Ensembl ].
VAR_030972
Natural varianti117 – 1171N → S in HH2; some patients also carry GNRHR mutations. 2 Publications
VAR_069288
Natural varianti125 – 1251S → L in a breast infiltrating ductal carcinoma sample; somatic mutation. 1 Publication
VAR_042201
Natural varianti129 – 1291D → A in HH2. 1 Publication
VAR_030973
Natural varianti165 – 1651L → S in HRTFDS. 1 Publication
VAR_070851
Natural varianti167 – 1671A → S in HH2; with cleft palate, corpus callosum agenesis, unilateral deafness and fusion of fourth and fifth metacarpal bones. 1 Publication
VAR_017887
Natural varianti178 – 1781C → S in HH2; with severe ear anomalies. 1 Publication
VAR_030974
Natural varianti191 – 1911L → S in HRTFDS. 1 Publication
VAR_070852
Natural varianti213 – 2131W → G.1 Publication
Corresponds to variant rs17851623 [ dbSNP | Ensembl ].
VAR_030975
Natural varianti224 – 2241D → H in HH2. 1 Publication
VAR_030976
Natural varianti228 – 2281Y → D in HH2; some patients also carry KISS1R mutations; impairs the tertiary folding resulting in incomplete glycosylation and reduced cell surface expression. 2 Publications
VAR_069289
Natural varianti237 – 2371G → D in HH2. 1 Publication
VAR_030977
Natural varianti237 – 2371G → S in HH2; with or without anosmia; also found in a family member with isolated anosmia; may impair proper folding. 1 Publication
VAR_030978
Natural varianti239 – 2391I → T in HH2; some patients also carry PROKR2 and GNRH1 mutations; impairs the tertiary folding resulting in incomplete glycosylation and reduced cell surface expression. 2 Publications
VAR_069290
Natural varianti245 – 2451L → P in HH2. 1 Publication
VAR_030979
Natural varianti250 – 2501R → Q in HH2; with or without anosmia; results in Kallmann syndrome in the presence of HS6ST1 mutation TRP-306; reduces receptor affinity for fibroblast growth factor. 3 Publications
VAR_069291
Natural varianti250 – 2501R → W in HH2. 2 Publications
VAR_030980
Natural varianti252 – 2521P → R in PS; seems to be a gain of function. 1 Publication
VAR_004111
Natural varianti252 – 2521P → T in a lung bronchoalveolar carcinoma sample; somatic mutation. 1 Publication