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P11362

- FGFR1_HUMAN

UniProt

P11362 - FGFR1_HUMAN

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
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    • History
      Entry version 201 (01 Oct 2014)
      Sequence version 3 (01 May 1991)
      Previous versions | rss
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    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 binding Source: IntAct
    7. protein homodimerization activity Source: UniProtKB
    8. 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

    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 membrane-bounded vesicle Source: UniProtKB-SubCell
    2. cytosol Source: UniProtKB-SubCell
    3. extracellular region Source: UniProtKB
    4. integral component of membrane Source: UniProtKB
    5. integral component of plasma membrane Source: ProtInc
    6. nucleus Source: UniProtKB-SubCell
    7. plasma membrane Source: UniProtKB
    8. receptor complex Source: MGI

    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.1 Publication
    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 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

    ArrayExpressiP11362.
    BgeeiP11362.
    CleanExiHS_FGFR1.
    HS_FLG.
    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. 29 interactions.
    DIPiDIP-4019N.
    IntActiP11362. 25 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[»]
    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.
    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

    MWSWKCLLFW AVLVTATLCT ARPSPTLPEQ AQPWGAPVEV ESFLVHPGDL    50
    LQLRCRLRDD VQSINWLRDG VQLAESNRTR ITGEEVEVQD SVPADSGLYA 100
    CVTSSPSGSD TTYFSVNVSD ALPSSEDDDD DDDSSSEEKE TDNTKPNRMP 150
    VAPYWTSPEK MEKKLHAVPA AKTVKFKCPS SGTPNPTLRW LKNGKEFKPD 200
    HRIGGYKVRY ATWSIIMDSV VPSDKGNYTC IVENEYGSIN HTYQLDVVER 250
    SPHRPILQAG LPANKTVALG SNVEFMCKVY SDPQPHIQWL KHIEVNGSKI 300
    GPDNLPYVQI LKTAGVNTTD KEMEVLHLRN VSFEDAGEYT CLAGNSIGLS 350
    HHSAWLTVLE ALEERPAVMT SPLYLEIIIY CTGAFLISCM VGSVIVYKMK 400
    SGTKKSDFHS QMAVHKLAKS IPLRRQVTVS ADSSASMNSG VLLVRPSRLS 450
    SSGTPMLAGV SEYELPEDPR WELPRDRLVL GKPLGEGCFG QVVLAEAIGL 500
    DKDKPNRVTK VAVKMLKSDA TEKDLSDLIS EMEMMKMIGK HKNIINLLGA 550
    CTQDGPLYVI VEYASKGNLR EYLQARRPPG LEYCYNPSHN PEEQLSSKDL 600
    VSCAYQVARG MEYLASKKCI HRDLAARNVL VTEDNVMKIA DFGLARDIHH 650
    IDYYKKTTNG RLPVKWMAPE ALFDRIYTHQ SDVWSFGVLL WEIFTLGGSP 700
    YPGVPVEELF KLLKEGHRMD KPSNCTNELY MMMRDCWHAV PSQRPTFKQL 750
    VEDLDRIVAL TSNQEYLDLS MPLDQYSPSF PDTRSSTCSS GEDSVFSHEP 800
    LPEEPCLPRH PAQLANGGLK RR 822
    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
    VAR_042202
    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