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P11487 (FGF3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 126. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:FGF3
Synonyms:INT2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length239 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Plays an important role in the regulation of embryonic development, cell proliferation, and cell differentiation. Required for normal ear development. Ref.3

Subunit structure

Interacts with FGFR1 and FGFR2. Affinity between fibroblast growth factors (FGFs) and their receptors is increased by heparan sulfate glycosaminoglycans that function as coreceptors. Ref.3

Subcellular location

Secreted Potential.

Involvement in disease

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).
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5 Ref.6

Sequence similarities

Belongs to the heparin-binding growth factors family.

Ontologies

Keywords
   Biological processDifferentiation
   Cellular componentSecreted
   DiseaseDisease mutation
Proto-oncogene
   DomainSignal
   Molecular functionDevelopmental protein
Growth factor
Mitogen
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processFc-epsilon receptor signaling pathway

Traceable author statement. Source: Reactome

anatomical structure morphogenesis

Traceable author statement Ref.1. Source: ProtInc

cell-cell signaling

Traceable author statement Ref.1. Source: ProtInc

epidermal growth factor receptor signaling pathway

Traceable author statement. Source: Reactome

fibroblast growth factor receptor signaling pathway

Inferred from genetic interaction Ref.3. Source: MGI

innate immune response

Traceable author statement. Source: Reactome

insulin receptor signaling pathway

Traceable author statement. Source: Reactome

negative regulation of cardiac muscle tissue development

Inferred from mutant phenotype PubMed 20702560. Source: BHF-UCL

neurotrophin TRK receptor signaling pathway

Traceable author statement. Source: Reactome

organ induction

Inferred from electronic annotation. Source: Ensembl

otic vesicle formation

Inferred from electronic annotation. Source: Ensembl

phosphatidylinositol-mediated signaling

Traceable author statement. Source: Reactome

positive regulation of cell division

Inferred from electronic annotation. Source: UniProtKB-KW

positive regulation of cell proliferation

Inferred from genetic interaction Ref.3. Source: MGI

post-anal tail morphogenesis

Inferred from electronic annotation. Source: Ensembl

semicircular canal morphogenesis

Inferred from electronic annotation. Source: Ensembl

signal transduction

Traceable author statement Ref.1. Source: ProtInc

thymus development

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentGolgi apparatus

Inferred from electronic annotation. Source: Ensembl

extracellular region

Traceable author statement. Source: Reactome

   Molecular_functiongrowth factor activity

Traceable author statement Ref.1. Source: ProtInc

protein binding

Inferred from physical interaction PubMed 16263090. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1717 Potential
Chain18 – 239222Fibroblast growth factor 3
PRO_0000008946

Amino acid modifications

Glycosylation651N-linked (GlcNAc...) Potential

Natural variations

Natural variant61L → P in LAMM; probably impairs secretion. Ref.6
VAR_060492
Natural variant1561S → P in LAMM. Ref.5
VAR_031848

Sequences

Sequence LengthMass (Da)Tools
P11487 [UniParc].

Last modified October 1, 1989. Version 1.
Checksum: 8DBEF17D2B2E3C63

FASTA23926,887
        10         20         30         40         50         60 
MGLIWLLLLS LLEPGWPAAG PGARLRRDAG GRGGVYEHLG GAPRRRKLYC ATKYHLQLHP 

        70         80         90        100        110        120 
SGRVNGSLEN SAYSILEITA VEVGIVAIRG LFSGRYLAMN KRGRLYASEH YSAECEFVER 

       130        140        150        160        170        180 
IHELGYNTYA SRLYRTVSST PGARRQPSAE RLWYVSVNGK GRPRRGFKTR RTQKSSLFLP 

       190        200        210        220        230 
RVLDHRDHEM VRQLQSGLPR PPGKGVQPRR RRQKQSPDNL EPSHVQASRL GSQLEASAH 

« Hide

References

« Hide 'large scale' references
[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]"Receptor specificity of the fibroblast growth factor family."
Ornitz D.M., Xu J., Colvin J.S., McEwen D.G., MacArthur C.A., Coulier F., Gao G., Goldfarb M.
J. Biol. Chem. 271:15292-15297(1996) [PubMed] [Europe PMC] [Abstract]
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]"Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia."
Tekin M., Ozturkmen Akay H., Fitoz S., Birnbaum S., Cengiz F.B., Sennaroglu L., Incesulu A., Yuksel Konuk E.B., Hasanefendioglu Bayrak A., Senturk S., Cebeci I., Utine G.E., Tuncbilek E., Nance W.E., Duman D.
Clin. Genet. 73:554-565(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LAMM PRO-6.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X14445 Genomic DNA. Translation: CAA32615.1.
BC113739 mRNA. Translation: AAI13740.1.
CCDSCCDS8195.1.
PIRS04742.
RefSeqNP_005238.1. NM_005247.2.
UniGeneHs.37092.

3D structure databases

ProteinModelPortalP11487.
SMRP11487. Positions 36-183.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108539. 3 interactions.
DIPDIP-4014N.
STRING9606.ENSP00000334122.

PTM databases

PhosphoSiteP11487.

Polymorphism databases

DMDM122748.

Proteomic databases

PaxDbP11487.
PRIDEP11487.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000334134; ENSP00000334122; ENSG00000186895.
ENST00000569169; ENSP00000454682; ENSG00000261155.
GeneID2248.
KEGGhsa:2248.
UCSCuc001oph.3. human.

Organism-specific databases

CTD2248.
GeneCardsGC11M069624.
GeneReviewsFGF3.
HGNCHGNC:3681. FGF3.
HPAHPA012692.
MIM164950. gene.
610706. phenotype.
neXtProtNX_P11487.
Orphanet90024. Deafness with labyrinthine aplasia, microtia, and microdontia.
99806. Oculootodental syndrome.
2791. Otodental syndrome.
PharmGKBPA28120.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG300661.
HOGENOMHOG000236341.
HOVERGENHBG007580.
InParanoidP11487.
KOK04358.
OMAYHLQIHP.
OrthoDBEOG7992S1.
PhylomeDBP11487.
TreeFamTF317805.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.
REACT_116125. Disease.
REACT_6900. Immune System.
SignaLinkP11487.

Gene expression databases

BgeeP11487.
CleanExHS_FGF3.
GenevestigatorP11487.

Family and domain databases

InterProIPR008996. Cytokine_IL1-like.
IPR028232. FGF3.
IPR002209. Fibroblast_GF_fam.
IPR028142. IL-1_fam/FGF_fam.
[Graphical view]
PANTHERPTHR11486. PTHR11486. 1 hit.
PTHR11486:SF26. PTHR11486:SF26. 1 hit.
PfamPF00167. FGF. 1 hit.
[Graphical view]
PRINTSPR00263. HBGFFGF.
PR00262. IL1HBGF.
SMARTSM00442. FGF. 1 hit.
[Graphical view]
SUPFAMSSF50353. SSF50353. 1 hit.
PROSITEPS00247. HBGF_FGF. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiFGF3.
GenomeRNAi2248.
NextBio9099.
PROP11487.
SOURCESearch...

Entry information

Entry nameFGF3_HUMAN
AccessionPrimary (citable) accession number: P11487
Secondary accession number(s): Q0VG69
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1989
Last sequence update: October 1, 1989
Last modified: July 9, 2014
This is version 126 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM