UniProtKB - P11487 (FGF3_HUMAN)
Protein
Fibroblast growth factor 3
Gene
FGF3
Organism
Homo sapiens (Human)
Status
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
- fibroblast growth factor receptor binding Source: InterPro
- growth factor activity Source: ProtInc
GO - Biological processi
- anatomical structure morphogenesis Source: ProtInc
- cell-cell signaling Source: ProtInc
- cell differentiation Source: UniProtKB-KW
- fibroblast growth factor receptor signaling pathway Source: MGI
- MAPK cascade Source: Reactome
- multicellular organism development Source: UniProtKB-KW
- negative regulation of cardiac muscle tissue development Source: BHF-UCL
- positive regulation of cell division Source: UniProtKB-KW
- positive regulation of cell population proliferation Source: MGI
- positive regulation of protein kinase B signaling Source: Reactome
- signal transduction Source: ProtInc
Keywordsi
Molecular function | Developmental protein, Growth factor, Mitogen |
Biological process | Differentiation |
Enzyme and pathway databases
Reactomei | R-HSA-109704 PI3K Cascade R-HSA-1257604 PIP3 activates AKT signaling R-HSA-190370 FGFR1b ligand binding and activation R-HSA-190377 FGFR2b ligand binding and activation R-HSA-2033519 Activated point mutants of FGFR2 R-HSA-2219530 Constitutive Signaling by Aberrant PI3K in Cancer R-HSA-5654219 Phospholipase C-mediated cascade: FGFR1 R-HSA-5654221 Phospholipase C-mediated cascade, FGFR2 R-HSA-5654687 Downstream signaling of activated FGFR1 R-HSA-5654688 SHC-mediated cascade:FGFR1 R-HSA-5654689 PI-3K cascade:FGFR1 R-HSA-5654693 FRS-mediated FGFR1 signaling R-HSA-5654695 PI-3K cascade:FGFR2 R-HSA-5654699 SHC-mediated cascade:FGFR2 R-HSA-5654700 FRS-mediated FGFR2 signaling R-HSA-5654726 Negative regulation of FGFR1 signaling R-HSA-5654727 Negative regulation of FGFR2 signaling R-HSA-5655253 Signaling by FGFR2 in disease R-HSA-5658623 FGFRL1 modulation of FGFR1 signaling R-HSA-5673001 RAF/MAP kinase cascade R-HSA-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling |
SignaLinki | P11487 |
SIGNORi | P11487 |
Names & Taxonomyi
Protein namesi | Recommended name: Fibroblast growth factor 3Short 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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:3681 FGF3 |
MIMi | 164950 gene |
neXtProti | NX_P11487 |
Subcellular locationi
Extracellular region or secreted
- Secreted Curated
Extracellular region or secreted
- extracellular region Source: Reactome
Keywords - Cellular componenti
SecretedPathology & Biotechi
Involvement in diseasei
Deafness with labyrinthine aplasia, microtia and microdontia (LAMM)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionUnique autosomal recessive syndrome characterized by type I microtia, microdontia, and profound congenital deafness associated with a complete absence of inner ear structures (Michel aplasia).
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_060492 | 6 | L → P in LAMM; probably impairs secretion. 1 PublicationCorresponds to variant dbSNP:rs121917706EnsemblClinVar. | 1 | |
Natural variantiVAR_031848 | 156 | S → P in LAMM. 1 PublicationCorresponds to variant dbSNP:rs121917703EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutation, Proto-oncogeneOrganism-specific databases
DisGeNETi | 2248 |
GeneReviewsi | FGF3 |
MalaCardsi | FGF3 |
MIMi | 610706 phenotype |
OpenTargetsi | ENSG00000186895 |
Orphaneti | 90024 Deafness with labyrinthine aplasia, microtia, and microdontia 99806 Oculootodental syndrome 2791 Otodental syndrome |
PharmGKBi | PA28120 |
Miscellaneous databases
Pharosi | P11487 |
Polymorphism and mutation databases
BioMutai | FGF3 |
DMDMi | 122748 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 17 | Sequence analysisAdd BLAST | 17 | |
ChainiPRO_0000008946 | 18 – 239 | Fibroblast growth factor 3Add BLAST | 222 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 65 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
GlycoproteinProteomic databases
PaxDbi | P11487 |
PeptideAtlasi | P11487 |
PRIDEi | P11487 |
ProteomicsDBi | 52783 |
PTM databases
iPTMneti | P11487 |
PhosphoSitePlusi | P11487 |
Expressioni
Gene expression databases
Bgeei | ENSG00000186895 Expressed in 11 organ(s), highest expression level in right hemisphere of cerebellum |
Genevisiblei | P11487 HS |
Organism-specific databases
HPAi | HPA012692 |
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 PublicationGO - Molecular functioni
- fibroblast growth factor receptor binding Source: InterPro
- growth factor activity Source: ProtInc
Protein-protein interaction databases
BioGridi | 108539, 70 interactors |
DIPi | DIP-4014N |
IntActi | P11487, 52 interactors |
STRINGi | 9606.ENSP00000334122 |
Family & Domainsi
Sequence similaritiesi
Belongs to the heparin-binding growth factors family.Curated
Keywords - Domaini
SignalPhylogenomic databases
eggNOGi | KOG3885 Eukaryota ENOG4111IPH LUCA |
GeneTreei | ENSGT00940000161128 |
HOGENOMi | HOG000236341 |
InParanoidi | P11487 |
KOi | K04358 |
OMAi | YASEVYN |
OrthoDBi | 936886at2759 |
PhylomeDBi | P11487 |
TreeFami | TF317805 |
Family and domain databases
CDDi | cd00058 FGF, 1 hit |
InterProi | View protein in InterPro IPR028232 FGF3 IPR002209 Fibroblast_GF_fam IPR008996 IL1/FGF |
PANTHERi | PTHR11486 PTHR11486, 1 hit PTHR11486:SF26 PTHR11486:SF26, 1 hit |
Pfami | View protein in Pfam PF00167 FGF, 1 hit |
PRINTSi | PR00263 HBGFFGF |
SMARTi | View protein in SMART SM00442 FGF, 1 hit |
SUPFAMi | SSF50353 SSF50353, 1 hit |
PROSITEi | View protein in PROSITE PS00247 HBGF_FGF, 1 hit |
i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
P11487-1 [UniParc]FASTAAdd to basket
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
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_060492 | 6 | L → P in LAMM; probably impairs secretion. 1 PublicationCorresponds to variant dbSNP:rs121917706EnsemblClinVar. | 1 | |
Natural variantiVAR_031848 | 156 | S → P in LAMM. 1 PublicationCorresponds to variant dbSNP:rs121917703EnsemblClinVar. | 1 |
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 |
Genome annotation databases
Ensembli | ENST00000334134; ENSP00000334122; ENSG00000186895 |
GeneIDi | 2248 |
KEGGi | hsa:2248 |
UCSCi | uc001oph.4 human |
Similar proteinsi
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 |
3D structure databases
SMRi | P11487 |
ModBasei | Search... |
Protein-protein interaction databases
BioGridi | 108539, 70 interactors |
DIPi | DIP-4014N |
IntActi | P11487, 52 interactors |
STRINGi | 9606.ENSP00000334122 |
PTM databases
iPTMneti | P11487 |
PhosphoSitePlusi | P11487 |
Polymorphism and mutation databases
BioMutai | FGF3 |
DMDMi | 122748 |
Proteomic databases
PaxDbi | P11487 |
PeptideAtlasi | P11487 |
PRIDEi | P11487 |
ProteomicsDBi | 52783 |
Genome annotation databases
Ensembli | ENST00000334134; ENSP00000334122; ENSG00000186895 |
GeneIDi | 2248 |
KEGGi | hsa:2248 |
UCSCi | uc001oph.4 human |
Organism-specific databases
CTDi | 2248 |
DisGeNETi | 2248 |
GeneCardsi | FGF3 |
GeneReviewsi | FGF3 |
HGNCi | HGNC:3681 FGF3 |
HPAi | HPA012692 |
MalaCardsi | FGF3 |
MIMi | 164950 gene 610706 phenotype |
neXtProti | NX_P11487 |
OpenTargetsi | ENSG00000186895 |
Orphaneti | 90024 Deafness with labyrinthine aplasia, microtia, and microdontia 99806 Oculootodental syndrome 2791 Otodental syndrome |
PharmGKBi | PA28120 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3885 Eukaryota ENOG4111IPH LUCA |
GeneTreei | ENSGT00940000161128 |
HOGENOMi | HOG000236341 |
InParanoidi | P11487 |
KOi | K04358 |
OMAi | YASEVYN |
OrthoDBi | 936886at2759 |
PhylomeDBi | P11487 |
TreeFami | TF317805 |
Enzyme and pathway databases
Reactomei | R-HSA-109704 PI3K Cascade R-HSA-1257604 PIP3 activates AKT signaling R-HSA-190370 FGFR1b ligand binding and activation R-HSA-190377 FGFR2b ligand binding and activation R-HSA-2033519 Activated point mutants of FGFR2 R-HSA-2219530 Constitutive Signaling by Aberrant PI3K in Cancer R-HSA-5654219 Phospholipase C-mediated cascade: FGFR1 R-HSA-5654221 Phospholipase C-mediated cascade, FGFR2 R-HSA-5654687 Downstream signaling of activated FGFR1 R-HSA-5654688 SHC-mediated cascade:FGFR1 R-HSA-5654689 PI-3K cascade:FGFR1 R-HSA-5654693 FRS-mediated FGFR1 signaling R-HSA-5654695 PI-3K cascade:FGFR2 R-HSA-5654699 SHC-mediated cascade:FGFR2 R-HSA-5654700 FRS-mediated FGFR2 signaling R-HSA-5654726 Negative regulation of FGFR1 signaling R-HSA-5654727 Negative regulation of FGFR2 signaling R-HSA-5655253 Signaling by FGFR2 in disease R-HSA-5658623 FGFRL1 modulation of FGFR1 signaling R-HSA-5673001 RAF/MAP kinase cascade R-HSA-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling |
SignaLinki | P11487 |
SIGNORi | P11487 |
Miscellaneous databases
GeneWikii | FGF3 |
GenomeRNAii | 2248 |
Pharosi | P11487 |
PROi | PR:P11487 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000186895 Expressed in 11 organ(s), highest expression level in right hemisphere of cerebellum |
Genevisiblei | P11487 HS |
Family and domain databases
CDDi | cd00058 FGF, 1 hit |
InterProi | View protein in InterPro IPR028232 FGF3 IPR002209 Fibroblast_GF_fam IPR008996 IL1/FGF |
PANTHERi | PTHR11486 PTHR11486, 1 hit PTHR11486:SF26 PTHR11486:SF26, 1 hit |
Pfami | View protein in Pfam PF00167 FGF, 1 hit |
PRINTSi | PR00263 HBGFFGF |
SMARTi | View protein in SMART SM00442 FGF, 1 hit |
SUPFAMi | SSF50353 SSF50353, 1 hit |
PROSITEi | View protein in PROSITE PS00247 HBGF_FGF, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | FGF3_HUMAN | |
Accessioni | P11487Primary (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 16, 2019 | |
This is version 164 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Complete proteome, Reference proteomeDocuments
- Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - SIMILARITY comments
Index of protein domains and families - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot