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P11487

- FGF3_HUMAN

UniProt

P11487 - FGF3_HUMAN

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Protein

Fibroblast growth factor 3

Gene

FGF3

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

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

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
Complete GO annotation...

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
Complete GO annotation...

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. 4 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.
GeneTreeiENSGT00760000118859.
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.
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

        10         20         30         40         50
MGLIWLLLLS LLEPGWPAAG PGARLRRDAG GRGGVYEHLG GAPRRRKLYC
60 70 80 90 100
ATKYHLQLHP SGRVNGSLEN SAYSILEITA VEVGIVAIRG LFSGRYLAMN
110 120 130 140 150
KRGRLYASEH YSAECEFVER IHELGYNTYA SRLYRTVSST PGARRQPSAE
160 170 180 190 200
RLWYVSVNGK GRPRRGFKTR RTQKSSLFLP RVLDHRDHEM VRQLQSGLPR
210 220 230
PPGKGVQPRR RRQKQSPDNL EPSHVQASRL GSQLEASAH
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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. 4 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.
GeneTreei ENSGT00760000118859.
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.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 129 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