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O60258

- FGF17_HUMAN

UniProt

O60258 - FGF17_HUMAN

Protein

Fibroblast growth factor 17

Gene

FGF17

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 131 (01 Oct 2014)
      Sequence version 1 (01 Aug 1998)
      Previous versions | rss
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    Functioni

    Plays an important role in the regulation of embryonic development and as signaling molecule in the induction and patterning of the embryonic brain. Required for normal brain development.1 Publication

    GO - Molecular functioni

    1. growth factor activity Source: ProtInc
    2. type 1 fibroblast growth factor receptor binding Source: UniProtKB
    3. type 2 fibroblast growth factor receptor binding Source: UniProtKB

    GO - Biological processi

    1. cell-cell signaling Source: ProtInc
    2. epidermal growth factor receptor signaling pathway Source: Reactome
    3. Fc-epsilon receptor signaling pathway Source: Reactome
    4. fibroblast growth factor receptor signaling pathway Source: Reactome
    5. innate immune response Source: Reactome
    6. insulin receptor signaling pathway Source: Reactome
    7. nervous system development Source: ProtInc
    8. neurotrophin TRK receptor signaling pathway Source: Reactome
    9. phosphatidylinositol-mediated signaling Source: Reactome
    10. positive regulation of cell proliferation Source: Ensembl
    11. signal transduction Source: ProtInc

    Keywords - Molecular functioni

    Developmental protein, Growth factor

    Enzyme and pathway databases

    ReactomeiREACT_111184. Negative regulation of FGFR signaling.
    REACT_120863. Activated point mutants of FGFR2.
    REACT_121153. Signaling by activated point mutants of FGFR1.
    REACT_121249. Signaling by FGFR3 mutants.
    REACT_121337. Signaling by activated point mutants of FGFR3.
    REACT_121398. Signaling by FGFR mutants.
    REACT_147727. Constitutive PI3K/AKT Signaling in Cancer.
    REACT_21247. FRS2-mediated cascade.
    REACT_21270. PI-3K cascade.
    REACT_21310. Phospholipase C-mediated cascade.
    REACT_21374. SHC-mediated cascade.
    REACT_75829. PIP3 activates AKT signaling.
    REACT_9413. FGFR2c ligand binding and activation.
    REACT_9452. FGFR4 ligand binding and activation.
    REACT_9508. FGFR3b ligand binding and activation.
    REACT_9510. FGFR3c ligand binding and activation.
    REACT_9515. FGFR1c ligand binding and activation.
    REACT_976. PI3K Cascade.
    SignaLinkiO60258.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Fibroblast growth factor 17
    Short name:
    FGF-17
    Gene namesi
    Name:FGF17
    ORF Names:UNQ161/PRO187
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:3673. FGF17.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular region Source: UniProtKB
    2. extracellular space Source: ProtInc

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Hypogonadotropic hypogonadism 20 with or without anosmia (HH20) [MIM:615270]: 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).1 Publication
    Note: The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. Some patients carrying mutations in FGF17 also have a mutation in another HH-associated gene including FGFR1, HS6ST1 and FLRT3 (PubMed:23643382).1 Publication
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti108 – 1081I → T in HH20; rare variant associated with susceptibility to disease; some patients have a second mutation in another HH-associated gene including FGFR1, HS6ST1 and FLRT3; the mutant has reduced ability to activate FGFR1. 1 Publication
    VAR_069947
    Natural varianti177 – 1771R → H in HH20; the mutant has reduced ability to activate FGFR1. 1 Publication
    VAR_069948
    Natural varianti187 – 1871N → S in HH20. 1 Publication
    VAR_069949

    Keywords - Diseasei

    Disease mutation, Hypogonadotropic hypogonadism, Kallmann syndrome

    Organism-specific databases

    MIMi615270. phenotype.
    Orphaneti478. Kallmann syndrome.
    432. Normosmic congenital hypogonadotropic hypogonadism.
    PharmGKBiPA28112.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2222Sequence AnalysisAdd
    BLAST
    Chaini23 – 216194Fibroblast growth factor 17PRO_0000008985Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi137 – 1371N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiO60258.
    PRIDEiO60258.

    PTM databases

    PhosphoSiteiO60258.

    Expressioni

    Tissue specificityi

    Preferentially expressed in the embryonic brain.

    Developmental stagei

    Detected in embryos at E14.5, but not at E10.5 and E19.5. Preferentially expressed in the neuroepithelia of the isthmus and septum of the embryonic brain at E14.5.

    Gene expression databases

    BgeeiO60258.
    CleanExiHS_FGF17.
    GenevestigatoriO60258.

    Organism-specific databases

    HPAiHPA052600.

    Interactioni

    Subunit structurei

    Interacts with FGFR3 and FGFR4.1 Publication

    Protein-protein interaction databases

    STRINGi9606.ENSP00000352414.

    Structurei

    3D structure databases

    ProteinModelPortaliO60258.
    SMRiO60258. Positions 33-178.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG327940.
    HOGENOMiHOG000115986.
    HOVERGENiHBG005659.
    InParanoidiO60258.
    KOiK04358.
    OMAiCQTQVTA.
    OrthoDBiEOG7DFXD5.
    PhylomeDBiO60258.
    TreeFamiTF331233.

    Family and domain databases

    InterProiIPR008996. Cytokine_IL1-like.
    IPR028287. FGF17.
    IPR002209. Fibroblast_GF_fam.
    IPR028142. IL-1_fam/FGF_fam.
    [Graphical view]
    PANTHERiPTHR11486. PTHR11486. 1 hit.
    PTHR11486:SF71. PTHR11486:SF71. 1 hit.
    PfamiPF00167. FGF. 1 hit.
    [Graphical view]
    PRINTSiPR00262. IL1HBGF.
    SMARTiSM00442. FGF. 1 hit.
    [Graphical view]
    SUPFAMiSSF50353. SSF50353. 1 hit.
    PROSITEiPS00247. HBGF_FGF. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

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

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O60258-1) [UniParc]FASTAAdd to Basket

    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

    MGAARLLPNL TLCLQLLILC CQTQGENHPS PNFNQYVRDQ GAMTDQLSRR    50
    QIREYQLYSR TSGKHVQVTG RRISATAEDG NKFAKLIVET DTFGSRVRIK 100
    GAESEKYICM NKRGKLIGKP SGKSKDCVFT EIVLENNYTA FQNARHEGWF 150
    MAFTRQGRPR QASRSRQNQR EAHFIKRLYQ GQLPFPNHAE KQKQFEFVGS 200
    APTRRTKRTR RPQPLT 216
    Length:216
    Mass (Da):24,891
    Last modified:August 1, 1998 - v1
    Checksum:i2EE0288675220F4C
    GO
    Isoform 2 (identifier: O60258-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         25-35: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:205
    Mass (Da):23,669
    Checksum:i7DCA34B12D3602A7
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti108 – 1081I → T in HH20; rare variant associated with susceptibility to disease; some patients have a second mutation in another HH-associated gene including FGFR1, HS6ST1 and FLRT3; the mutant has reduced ability to activate FGFR1. 1 Publication
    VAR_069947
    Natural varianti177 – 1771R → H in HH20; the mutant has reduced ability to activate FGFR1. 1 Publication
    VAR_069948
    Natural varianti187 – 1871N → S in HH20. 1 Publication
    VAR_069949

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei25 – 3511Missing in isoform 2. 2 PublicationsVSP_008715Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB009249 mRNA. Translation: BAA25429.1.
    AY358869 mRNA. Translation: AAQ89228.1.
    AF497475 Genomic DNA. Translation: AAM09570.1.
    CH471080 Genomic DNA. Translation: EAW63729.1.
    BC069475 mRNA. Translation: AAH69475.1.
    BC105131 mRNA. Translation: AAI05132.1.
    BC113489 mRNA. Translation: AAI13490.1.
    BC143789 mRNA. Translation: AAI43790.1.
    CCDSiCCDS6019.1. [O60258-1]
    RefSeqiNP_003858.1. NM_003867.2. [O60258-1]
    XP_005273733.1. XM_005273676.1. [O60258-2]
    UniGeneiHs.248192.

    Genome annotation databases

    EnsembliENST00000359441; ENSP00000352414; ENSG00000158815. [O60258-1]
    ENST00000518533; ENSP00000431041; ENSG00000158815. [O60258-2]
    GeneIDi8822.
    KEGGihsa:8822.
    UCSCiuc003xag.3. human. [O60258-1]
    uc003xah.3. human. [O60258-2]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Web resourcesi

    NIEHS-SNPs

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB009249 mRNA. Translation: BAA25429.1 .
    AY358869 mRNA. Translation: AAQ89228.1 .
    AF497475 Genomic DNA. Translation: AAM09570.1 .
    CH471080 Genomic DNA. Translation: EAW63729.1 .
    BC069475 mRNA. Translation: AAH69475.1 .
    BC105131 mRNA. Translation: AAI05132.1 .
    BC113489 mRNA. Translation: AAI13490.1 .
    BC143789 mRNA. Translation: AAI43790.1 .
    CCDSi CCDS6019.1. [O60258-1 ]
    RefSeqi NP_003858.1. NM_003867.2. [O60258-1 ]
    XP_005273733.1. XM_005273676.1. [O60258-2 ]
    UniGenei Hs.248192.

    3D structure databases

    ProteinModelPortali O60258.
    SMRi O60258. Positions 33-178.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000352414.

    PTM databases

    PhosphoSitei O60258.

    Proteomic databases

    PaxDbi O60258.
    PRIDEi O60258.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000359441 ; ENSP00000352414 ; ENSG00000158815 . [O60258-1 ]
    ENST00000518533 ; ENSP00000431041 ; ENSG00000158815 . [O60258-2 ]
    GeneIDi 8822.
    KEGGi hsa:8822.
    UCSCi uc003xag.3. human. [O60258-1 ]
    uc003xah.3. human. [O60258-2 ]

    Organism-specific databases

    CTDi 8822.
    GeneCardsi GC08P021899.
    HGNCi HGNC:3673. FGF17.
    HPAi HPA052600.
    MIMi 603725. gene.
    615270. phenotype.
    neXtProti NX_O60258.
    Orphaneti 478. Kallmann syndrome.
    432. Normosmic congenital hypogonadotropic hypogonadism.
    PharmGKBi PA28112.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG327940.
    HOGENOMi HOG000115986.
    HOVERGENi HBG005659.
    InParanoidi O60258.
    KOi K04358.
    OMAi CQTQVTA.
    OrthoDBi EOG7DFXD5.
    PhylomeDBi O60258.
    TreeFami TF331233.

    Enzyme and pathway databases

    Reactomei REACT_111184. Negative regulation of FGFR signaling.
    REACT_120863. Activated point mutants of FGFR2.
    REACT_121153. Signaling by activated point mutants of FGFR1.
    REACT_121249. Signaling by FGFR3 mutants.
    REACT_121337. Signaling by activated point mutants of FGFR3.
    REACT_121398. Signaling by FGFR mutants.
    REACT_147727. Constitutive PI3K/AKT Signaling in Cancer.
    REACT_21247. FRS2-mediated cascade.
    REACT_21270. PI-3K cascade.
    REACT_21310. Phospholipase C-mediated cascade.
    REACT_21374. SHC-mediated cascade.
    REACT_75829. PIP3 activates AKT signaling.
    REACT_9413. FGFR2c ligand binding and activation.
    REACT_9452. FGFR4 ligand binding and activation.
    REACT_9508. FGFR3b ligand binding and activation.
    REACT_9510. FGFR3c ligand binding and activation.
    REACT_9515. FGFR1c ligand binding and activation.
    REACT_976. PI3K Cascade.
    SignaLinki O60258.

    Miscellaneous databases

    GeneWikii FGF17.
    GenomeRNAii 8822.
    NextBioi 33096.
    PROi O60258.
    SOURCEi Search...

    Gene expression databases

    Bgeei O60258.
    CleanExi HS_FGF17.
    Genevestigatori O60258.

    Family and domain databases

    InterProi IPR008996. Cytokine_IL1-like.
    IPR028287. FGF17.
    IPR002209. Fibroblast_GF_fam.
    IPR028142. IL-1_fam/FGF_fam.
    [Graphical view ]
    PANTHERi PTHR11486. PTHR11486. 1 hit.
    PTHR11486:SF71. PTHR11486:SF71. 1 hit.
    Pfami PF00167. FGF. 1 hit.
    [Graphical view ]
    PRINTSi PR00262. IL1HBGF.
    SMARTi SM00442. FGF. 1 hit.
    [Graphical view ]
    SUPFAMi SSF50353. SSF50353. 1 hit.
    PROSITEi PS00247. HBGF_FGF. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Structure and expression of a novel fibroblast growth factor, FGF-17, preferentially expressed in the embryonic brain."
      Hoshikawa M., Ohbayashi N., Yonamine A., Konishi M., Ozaki K., Fukui S., Itoh N.
      Biochem. Biophys. Res. Commun. 244:187-191(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Fetal brain.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    3. NIEHS SNPs program
      Submitted (MAR-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    6. "Receptor specificity of the fibroblast growth factor family. The complete mammalian FGF family."
      Zhang X., Ibrahimi O.A., Olsen S.K., Umemori H., Mohammadi M., Ornitz D.M.
      J. Biol. Chem. 281:15694-15700(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH FGFR3 AND FGFR4, FUNCTION IN STIMULATION OF CELL PROLIFERATION.
    7. "Fibroblast growth factor signalling: from development to cancer."
      Turner N., Grose R.
      Nat. Rev. Cancer 10:116-129(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW.
    8. Cited for: VARIANTS HH20 THR-108; HIS-177 AND SER-187, CHARACTERIZATION OF VARIANTS HH20 THR-108 AND HIS-177.

    Entry informationi

    Entry nameiFGF17_HUMAN
    AccessioniPrimary (citable) accession number: O60258
    Secondary accession number(s): B7ZLG4, Q2M2W1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1999
    Last sequence update: August 1, 1998
    Last modified: October 1, 2014
    This is version 131 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 8
      Human chromosome 8: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3