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P11487

- FGF3_HUMAN

UniProt

P11487 - FGF3_HUMAN

Protein

Fibroblast growth factor 3

Gene

FGF3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 128 (01 Oct 2014)
      Sequence version 1 (01 Oct 1989)
      Previous versions | rss
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    Functioni

    Plays an important role in the regulation of embryonic development, cell proliferation, and cell differentiation. Required for normal ear development.1 Publication

    GO - Molecular functioni

    1. growth factor activity Source: ProtInc
    2. protein binding Source: UniProtKB

    GO - Biological processi

    1. anatomical structure morphogenesis Source: ProtInc
    2. cell-cell signaling Source: ProtInc
    3. epidermal growth factor receptor signaling pathway Source: Reactome
    4. Fc-epsilon receptor signaling pathway Source: Reactome
    5. fibroblast growth factor receptor signaling pathway Source: MGI
    6. innate immune response Source: Reactome
    7. insulin receptor signaling pathway Source: Reactome
    8. negative regulation of cardiac muscle tissue development Source: BHF-UCL
    9. neurotrophin TRK receptor signaling pathway Source: Reactome
    10. organ induction Source: Ensembl
    11. otic vesicle formation Source: Ensembl
    12. phosphatidylinositol-mediated signaling Source: Reactome
    13. positive regulation of cell division Source: UniProtKB-KW
    14. positive regulation of cell proliferation Source: MGI
    15. post-anal tail morphogenesis Source: Ensembl
    16. semicircular canal morphogenesis Source: Ensembl
    17. signal transduction Source: ProtInc
    18. thymus development Source: Ensembl

    Keywords - Molecular functioni

    Developmental protein, Growth factor, Mitogen

    Keywords - Biological processi

    Differentiation

    Enzyme and pathway databases

    ReactomeiREACT_111184. Negative regulation of FGFR signaling.
    REACT_120863. Activated point mutants of FGFR2.
    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_9400. FGFR1b ligand binding and activation.
    REACT_9416. FGFR2b ligand binding and activation.
    REACT_976. PI3K Cascade.
    SignaLinkiP11487.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Fibroblast growth factor 3
    Short name:
    FGF-3
    Alternative name(s):
    Heparin-binding growth factor 3
    Short name:
    HBGF-3
    Proto-oncogene Int-2
    Gene namesi
    Name:FGF3
    Synonyms:INT2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:3681. FGF3.

    Subcellular locationi

    Secreted Curated

    GO - Cellular componenti

    1. extracellular region Source: Reactome
    2. Golgi apparatus Source: Ensembl

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Deafness with labyrinthine aplasia, microtia and microdontia (LAMM) [MIM:610706]: Unique autosomal recessive syndrome characterized by type I microtia, microdontia, and profound congenital deafness associated with a complete absence of inner ear structures (Michel aplasia).2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti6 – 61L → P in LAMM; probably impairs secretion. 1 Publication
    VAR_060492
    Natural varianti156 – 1561S → P in LAMM. 1 Publication
    VAR_031848

    Keywords - Diseasei

    Disease mutation, Proto-oncogene

    Organism-specific databases

    MIMi610706. phenotype.
    Orphaneti90024. Deafness with labyrinthine aplasia, microtia, and microdontia.
    99806. Oculootodental syndrome.
    2791. Otodental syndrome.
    PharmGKBiPA28120.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1717Sequence AnalysisAdd
    BLAST
    Chaini18 – 239222Fibroblast growth factor 3PRO_0000008946Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi65 – 651N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiP11487.
    PRIDEiP11487.

    PTM databases

    PhosphoSiteiP11487.

    Expressioni

    Gene expression databases

    BgeeiP11487.
    CleanExiHS_FGF3.
    GenevestigatoriP11487.

    Organism-specific databases

    HPAiHPA012692.

    Interactioni

    Subunit structurei

    Interacts with FGFR1 and FGFR2. Affinity between fibroblast growth factors (FGFs) and their receptors is increased by heparan sulfate glycosaminoglycans that function as coreceptors.1 Publication

    Protein-protein interaction databases

    BioGridi108539. 3 interactions.
    DIPiDIP-4014N.
    STRINGi9606.ENSP00000334122.

    Structurei

    3D structure databases

    ProteinModelPortaliP11487.
    SMRiP11487. Positions 36-183.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG300661.
    HOGENOMiHOG000236341.
    HOVERGENiHBG007580.
    InParanoidiP11487.
    KOiK04358.
    OMAiYHLQIHP.
    OrthoDBiEOG7992S1.
    PhylomeDBiP11487.
    TreeFamiTF317805.

    Family and domain databases

    InterProiIPR008996. Cytokine_IL1-like.
    IPR028232. FGF3.
    IPR002209. Fibroblast_GF_fam.
    IPR028142. IL-1_fam/FGF_fam.
    [Graphical view]
    PANTHERiPTHR11486. PTHR11486. 1 hit.
    PTHR11486:SF26. PTHR11486:SF26. 1 hit.
    PfamiPF00167. FGF. 1 hit.
    [Graphical view]
    PRINTSiPR00263. HBGFFGF.
    PR00262. IL1HBGF.
    SMARTiSM00442. FGF. 1 hit.
    [Graphical view]
    SUPFAMiSSF50353. SSF50353. 1 hit.
    PROSITEiPS00247. HBGF_FGF. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    P11487-1 [UniParc]FASTAAdd to Basket

    « Hide

    MGLIWLLLLS LLEPGWPAAG PGARLRRDAG GRGGVYEHLG GAPRRRKLYC    50
    ATKYHLQLHP SGRVNGSLEN SAYSILEITA VEVGIVAIRG LFSGRYLAMN 100
    KRGRLYASEH YSAECEFVER IHELGYNTYA SRLYRTVSST PGARRQPSAE 150
    RLWYVSVNGK GRPRRGFKTR RTQKSSLFLP RVLDHRDHEM VRQLQSGLPR 200
    PPGKGVQPRR RRQKQSPDNL EPSHVQASRL GSQLEASAH 239
    Length:239
    Mass (Da):26,887
    Last modified:October 1, 1989 - v1
    Checksum:i8DBEF17D2B2E3C63
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti6 – 61L → P in LAMM; probably impairs secretion. 1 Publication
    VAR_060492
    Natural varianti156 – 1561S → P in LAMM. 1 Publication
    VAR_031848

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X14445 Genomic DNA. Translation: CAA32615.1.
    BC113739 mRNA. Translation: AAI13740.1.
    CCDSiCCDS8195.1.
    PIRiS04742.
    RefSeqiNP_005238.1. NM_005247.2.
    UniGeneiHs.37092.

    Genome annotation databases

    EnsembliENST00000334134; ENSP00000334122; ENSG00000186895.
    GeneIDi2248.
    KEGGihsa:2248.
    UCSCiuc001oph.3. human.

    Polymorphism databases

    DMDMi122748.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X14445 Genomic DNA. Translation: CAA32615.1 .
    BC113739 mRNA. Translation: AAI13740.1 .
    CCDSi CCDS8195.1.
    PIRi S04742.
    RefSeqi NP_005238.1. NM_005247.2.
    UniGenei Hs.37092.

    3D structure databases

    ProteinModelPortali P11487.
    SMRi P11487. Positions 36-183.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108539. 3 interactions.
    DIPi DIP-4014N.
    STRINGi 9606.ENSP00000334122.

    PTM databases

    PhosphoSitei P11487.

    Polymorphism databases

    DMDMi 122748.

    Proteomic databases

    PaxDbi P11487.
    PRIDEi P11487.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000334134 ; ENSP00000334122 ; ENSG00000186895 .
    GeneIDi 2248.
    KEGGi hsa:2248.
    UCSCi uc001oph.3. human.

    Organism-specific databases

    CTDi 2248.
    GeneCardsi GC11M069624.
    GeneReviewsi FGF3.
    HGNCi HGNC:3681. FGF3.
    HPAi HPA012692.
    MIMi 164950. gene.
    610706. phenotype.
    neXtProti NX_P11487.
    Orphaneti 90024. Deafness with labyrinthine aplasia, microtia, and microdontia.
    99806. Oculootodental syndrome.
    2791. Otodental syndrome.
    PharmGKBi PA28120.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG300661.
    HOGENOMi HOG000236341.
    HOVERGENi HBG007580.
    InParanoidi P11487.
    KOi K04358.
    OMAi YHLQIHP.
    OrthoDBi EOG7992S1.
    PhylomeDBi P11487.
    TreeFami TF317805.

    Enzyme and pathway databases

    Reactomei REACT_111184. Negative regulation of FGFR signaling.
    REACT_120863. Activated point mutants of FGFR2.
    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_9400. FGFR1b ligand binding and activation.
    REACT_9416. FGFR2b ligand binding and activation.
    REACT_976. PI3K Cascade.
    SignaLinki P11487.

    Miscellaneous databases

    GeneWikii FGF3.
    GenomeRNAii 2248.
    NextBioi 9099.
    PROi P11487.
    SOURCEi Search...

    Gene expression databases

    Bgeei P11487.
    CleanExi HS_FGF3.
    Genevestigatori P11487.

    Family and domain databases

    InterProi IPR008996. Cytokine_IL1-like.
    IPR028232. FGF3.
    IPR002209. Fibroblast_GF_fam.
    IPR028142. IL-1_fam/FGF_fam.
    [Graphical view ]
    PANTHERi PTHR11486. PTHR11486. 1 hit.
    PTHR11486:SF26. PTHR11486:SF26. 1 hit.
    Pfami PF00167. FGF. 1 hit.
    [Graphical view ]
    PRINTSi PR00263. HBGFFGF.
    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. "Sequence organization of the human int-2 gene and its expression in teratocarcinoma cells."
      Brooks S., Smith R., Casey G., Dickson C., Peters G.
      Oncogene 4:429-436(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
      Tissue: Placenta.
    2. "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].
    3. Cited for: INTERACTION WITH FGFR1 AND FGFR2, FUNCTION IN CELL PROLIFERATION.
    4. "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.
    5. "Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia."
      Tekin M., Hismi B.O., Fitoz S., Oezdag H., Cengiz F.B., Sirmaci A., Aslan I., Inceoglu B., Yueksel-Konuk E.B., Yilmaz S.T., Yasun O., Akar N.
      Am. J. Hum. Genet. 80:338-344(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LAMM PRO-156.
    6. Cited for: VARIANT LAMM PRO-6.

    Entry informationi

    Entry nameiFGF3_HUMAN
    AccessioniPrimary (citable) accession number: P11487
    Secondary accession number(s): Q0VG69
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1989
    Last sequence update: October 1, 1989
    Last modified: October 1, 2014
    This is version 128 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 11
      Human chromosome 11: 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