P11487 (FGF3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	FGF3
Synonyms:	INT2

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	239 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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	Defects in FGF3 are a cause of deafness with labyrinthine aplasia, microtia and microdontia (LAMM) [MIM:610706]; also known as congenital deafness with inner ear agenesis, microtia and microdontia. LAMM consists of a 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). Ref.5 Ref.6
Sequence similarities	Belongs to the heparin-binding growth factors family.

Ontologies

Keywords
Biological process	Differentiation
Cellular component	Secreted
Disease	Disease mutation Proto-oncogene
Domain	Signal
Molecular function	Developmental protein Growth factor Mitogen
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	fibroblast growth factor receptor signaling pathway Inferred from genetic interaction Ref.3. Source: MGI insulin receptor signaling pathway Traceable author statement. Source: Reactome negative regulation of cardiac muscle tissue development Inferred from mutant phenotype. Source: BHF-UCL 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
Cellular component	extracellular region Traceable author statement. Source: Reactome
Molecular function	growth factor activity Traceable author statement. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 17	17	Potential
	Chain	18 – 239	222	Fibroblast growth factor 3		PRO_0000008946
Amino acid modifications
	Glycosylation	65	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	6	1	L → P in LAMM; probably impairs secretion. Ref.6		VAR_060492
	Natural variant	156	1	S → P in LAMM. Ref.5		VAR_031848

Sequences

	Sequence		Length	Mass (Da)
	P11487 [UniParc]. Last modified October 1, 1989. Version 1. Checksum: 8DBEF17D2B2E3C63	FASTA	239	26,887
	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

References

	« Hide 'large scale' referencesShow '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: 2470007] [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: 15489334] [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: 8663044] [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: 20094046] [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: 17236138] [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: 18435799] [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.
IPI	IPI00005729.
PIR	S04742.
RefSeq	NP_005238.1. NM_005247.2.
UniGene	Hs.37092.
3D structure databases
ProteinModelPortal	P11487.
SMR	P11487. Positions 36-183.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-4014N.
STRING	P11487.
Polymorphism databases
DMDM	122748.
Proteomic databases
PRIDE	P11487.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000334134; ENSP00000334122; ENSG00000186895.
GeneID	2248.
KEGG	hsa:2248.
UCSC	uc001oph.1. human.
Organism-specific databases
CTD	2248.
GeneCards	GC11M069624.
H-InvDB	HIX0036170.
HGNC	HGNC:3681. FGF3.
HPA	HPA012692.
MIM	164950. gene. 610706. phenotype.
neXtProt	NX_P11487.
Orphanet	90024. Deafness with labyrinthine aplasia, microtia, and microdontia. 2791. Otodental syndrome.
PharmGKB	PA28120.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG19616.
GeneTree	ENSGT00600000084030.
HOGENOM	HBG715603.
HOVERGEN	HBG007580.
InParanoid	P11487.
OMA	NKDHEMV.
OrthoDB	EOG4QJRP7.
PhylomeDB	P11487.
Enzyme and pathway databases
Reactome	REACT_111102. Signal Transduction.
Gene expression databases
ArrayExpress	P11487.
Bgee	P11487.
CleanEx	HS_FGF3.
Genevestigator	P11487.
GermOnline	ENSG00000186895. Homo sapiens.
Family and domain databases
InterPro	IPR008996. Cytokine_IL1-like. IPR002209. GF_heparin-bd. IPR002348. IL1_HBGF. [Graphical view]
KO	K04358.
PANTHER	PTHR11486. IL1_HBGF. 1 hit.
Pfam	PF00167. FGF. 1 hit. [Graphical view]
PRINTS	PR00263. HBGFFGF. PR00262. IL1HBGF.
SMART	SM00442. FGF. 1 hit. [Graphical view]
SUPFAM	SSF50353. Cytok_IL1_like. 1 hit.
PROSITE	PS00247. HBGF_FGF. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	9099.
SOURCE	Search...

Entry information

Entry name

FGF3_HUMAN

Accession

Primary (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:	January 25, 2012
This is version 102 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.