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: GO_Central
- growth factor activity Source: GO_Central
GO - Biological processi
- anatomical structure morphogenesis Source: ProtInc
- animal organ morphogenesis Source: GO_Central
- cell-cell signaling Source: ProtInc
- cell differentiation Source: GO_Central
- fibroblast growth factor receptor signaling pathway Source: MGI
- MAPK cascade Source: Reactome
- 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 gene expression Source: GO_Central
- positive regulation of protein kinase B signaling Source: Reactome
- positive regulation of protein phosphorylation Source: GO_Central
- regulation of cell migration Source: GO_Central
- signal transduction Source: ProtInc
Keywordsi
Molecular function | Developmental protein, Growth factor, Mitogen |
Biological process | Differentiation |
Enzyme and pathway databases
PathwayCommonsi | P11487 |
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 |
VEuPathDBi | HostDB:ENSG00000186895.2 |
Subcellular locationi
Extracellular region or secreted
- Secreted Curated
Extracellular region or secreted
- extracellular region Source: Reactome
- extracellular space Source: GO_Central
Other locations
- cytoplasm Source: GO_Central
Keywords - Cellular componenti
SecretedPathology & Biotechi
Involvement in diseasei
Deafness with labyrinthine aplasia, microtia and microdontia (LAMM)2 Publications
The disease is caused by variants 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 variant, 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, Tbio |
Genetic variation 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
GlyGeni | P11487, 1 site |
iPTMneti | P11487 |
PhosphoSitePlusi | P11487 |
Expressioni
Gene expression databases
Bgeei | ENSG00000186895, Expressed in right hemisphere of cerebellum and 17 other tissues |
Genevisiblei | P11487, HS |
Organism-specific databases
HPAi | ENSG00000186895, Tissue enriched (brain) |
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: GO_Central
- growth factor activity Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 108539, 70 interactors |
DIPi | DIP-4014N |
IntActi | P11487, 52 interactors |
STRINGi | 9606.ENSP00000334122 |
Miscellaneous databases
RNActi | P11487, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the heparin-binding growth factors family.Curated
Keywords - Domaini
SignalPhylogenomic databases
eggNOGi | KOG3885, Eukaryota |
GeneTreei | ENSGT00940000161128 |
HOGENOMi | CLU_081609_1_0_1 |
InParanoidi | P11487 |
OMAi | QACDPRQ |
OrthoDBi | 1157770at2759 |
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
GlyGeni | P11487, 1 site |
iPTMneti | P11487 |
PhosphoSitePlusi | P11487 |
Genetic variation databases
BioMutai | FGF3 |
DMDMi | 122748 |
Proteomic databases
PaxDbi | P11487 |
PeptideAtlasi | P11487 |
PRIDEi | P11487 |
ProteomicsDBi | 52783 |
Protocols and materials databases
Antibodypediai | 2164, 212 antibodies |
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 | ENSG00000186895, Tissue enriched (brain) |
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 |
VEuPathDBi | HostDB:ENSG00000186895.2 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3885, Eukaryota |
GeneTreei | ENSGT00940000161128 |
HOGENOMi | CLU_081609_1_0_1 |
InParanoidi | P11487 |
OMAi | QACDPRQ |
OrthoDBi | 1157770at2759 |
PhylomeDBi | P11487 |
TreeFami | TF317805 |
Enzyme and pathway databases
PathwayCommonsi | P11487 |
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
BioGRID-ORCSi | 2248, 5 hits in 869 CRISPR screens |
GeneWikii | FGF3 |
GenomeRNAii | 2248 |
Pharosi | P11487, Tbio |
PROi | PR:P11487 |
RNActi | P11487, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000186895, Expressed in right hemisphere of cerebellum and 17 other tissues |
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: | February 10, 2021 | |
This is version 171 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
Reference proteomeDocuments
- Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families