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Protein

Fibroblast growth factor 9

Gene

FGF9

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

Functioni

Plays an important role in the regulation of embryonic development, cell proliferation, cell differentiation and cell migration. May have a role in glial cell growth and differentiation during development, gliosis during repair and regeneration of brain tissue after damage, differentiation and survival of neuronal cells, and growth stimulation of glial tumors.2 Publications

Miscellaneous

Biochemical analysis of the Asn-99 mutation reveals a significantly impaired FGF signaling, as evidenced by diminished activity of the MAPK1/MAPK2 pathway and decreases CTNNB1 and MYC expression when compared with wild-type protein. Binding of mutant protein to the receptor FGFR3 is severely impaired, although homodimerization of mutant to itself or wild-type is not detectably affected, providing a basis for the observed defective FGF9 signaling.

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, Growth factor, Heparin-binding, Mitogen
Biological processDifferentiation

Enzyme and pathway databases

ReactomeiR-HSA-109704 PI3K Cascade
R-HSA-1257604 PIP3 activates AKT signaling
R-HSA-1839122 Signaling by activated point mutants of FGFR1
R-HSA-1839130 Signaling by activated point mutants of FGFR3
R-HSA-190322 FGFR4 ligand binding and activation
R-HSA-190371 FGFR3b ligand binding and activation
R-HSA-190372 FGFR3c ligand binding and activation
R-HSA-190373 FGFR1c ligand binding and activation
R-HSA-190375 FGFR2c ligand binding and activation
R-HSA-2033514 FGFR3 mutant receptor 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-5654227 Phospholipase C-mediated cascade, FGFR3
R-HSA-5654228 Phospholipase C-mediated cascade, FGFR4
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-5654704 SHC-mediated cascade:FGFR3
R-HSA-5654706 FRS-mediated FGFR3 signaling
R-HSA-5654710 PI-3K cascade:FGFR3
R-HSA-5654712 FRS-mediated FGFR4 signaling
R-HSA-5654719 SHC-mediated cascade:FGFR4
R-HSA-5654720 PI-3K cascade:FGFR4
R-HSA-5654726 Negative regulation of FGFR1 signaling
R-HSA-5654727 Negative regulation of FGFR2 signaling
R-HSA-5654732 Negative regulation of FGFR3 signaling
R-HSA-5654733 Negative regulation of FGFR4 signaling
R-HSA-5655253 Signaling by FGFR2 in disease
R-HSA-5655302 Signaling by FGFR1 in disease
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
R-HSA-8853338 Signaling by FGFR3 point mutants in cancer
SignaLinkiP31371
SIGNORiP31371

Names & Taxonomyi

Protein namesi
Recommended name:
Fibroblast growth factor 9
Short name:
FGF-9
Alternative name(s):
Glia-activating factor
Short name:
GAF
Heparin-binding growth factor 9
Short name:
HBGF-9
Gene namesi
Name:FGF9
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

EuPathDBiHostDB:ENSG00000102678.6
HGNCiHGNC:3687 FGF9
MIMi600921 gene
neXtProtiNX_P31371

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Multiple synostoses syndrome 3 (SYNS3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA bone disease characterized by multiple progressive joint fusions that commonly involve proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine joints. Additional features can include progressive conductive deafness and facial dysmorphism.
See also OMIM:612961
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06325499S → N in SYNS3; expressed and secreted as efficiently as wild-type; however it induces compromised chondrocyte proliferation and differentiation accompanied by enhanced osteogenic differentiation and matrix mineralization of bone marrow-derived mesenchymal stem cells. 1 PublicationCorresponds to variant dbSNP:rs121918322Ensembl.1

Keywords - Diseasei

Deafness, Disease mutation

Organism-specific databases

DisGeNETi2254
MalaCardsiFGF9
MIMi612961 phenotype
OpenTargetsiENSG00000102678
Orphaneti3237 Multiple synostoses syndrome
PharmGKBiPA28126

Polymorphism and mutation databases

BioMutaiFGF9
DMDMi544290

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
PropeptideiPRO_00000089731 – 31 Publication3
ChainiPRO_00000089744 – 208Fibroblast growth factor 9Add BLAST205

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi79N-linked (GlcNAc...) asparagine1

Post-translational modificationi

Three molecular species were found (30 kDa, 29 kDa and 25 kDa), cleaved at Leu-4, Val-13 and Ser-34 respectively. The smaller ones might be products of proteolytic digestion. Furthermore, there may be a functional signal sequence in the 30 kDa species which is uncleavable in the secretion step.
N-glycosylated.

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiP31371
PRIDEiP31371

PTM databases

iPTMnetiP31371
PhosphoSitePlusiP31371

Expressioni

Tissue specificityi

Glial cells.

Gene expression databases

BgeeiENSG00000102678
CleanExiHS_FGF9
GenevisibleiP31371 HS

Organism-specific databases

HPAiCAB004392

Interactioni

Subunit structurei

Monomer. Homodimer. Interacts with FGFR1, FGFR2, FGFR3 and FGFR4. Affinity between fibroblast growth factors (FGFs) and their receptors is increased by heparan sulfate glycosaminoglycans that function as coreceptors.4 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi108545, 17 interactors
DIPiDIP-6036N
STRINGi9606.ENSP00000371790

Structurei

Secondary structure

1208
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi53 – 60Combined sources8
Beta strandi63 – 68Combined sources6
Turni69 – 71Combined sources3
Beta strandi73 – 76Combined sources4
Beta strandi82 – 87Combined sources6
Helixi91 – 93Combined sources3
Beta strandi95 – 101Combined sources7
Beta strandi104 – 109Combined sources6
Turni110 – 112Combined sources3
Beta strandi115 – 118Combined sources4
Beta strandi124 – 129Combined sources6
Helixi132 – 134Combined sources3
Beta strandi136 – 142Combined sources7
Beta strandi145 – 154Combined sources10
Turni156 – 158Combined sources3
Beta strandi161 – 163Combined sources3
Helixi175 – 177Combined sources3
Helixi183 – 185Combined sources3
Beta strandi187 – 190Combined sources4
Helixi194 – 196Combined sources3
Helixi200 – 203Combined sources4

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1G82X-ray2.60A/B/C/D49-208[»]
1IHKX-ray2.20A35-208[»]
5W59X-ray2.50A35-208[»]
ProteinModelPortaliP31371
SMRiP31371
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP31371

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG3885 Eukaryota
ENOG4111IPH LUCA
GeneTreeiENSGT00760000118859
HOGENOMiHOG000236341
HOVERGENiHBG007580
InParanoidiP31371
KOiK04358
OMAiNLYKHGE
OrthoDBiEOG091G0NAY
PhylomeDBiP31371
TreeFamiTF317805

Family and domain databases

CDDicd00058 FGF, 1 hit
InterProiView protein in InterPro
IPR028251 FGF9
IPR002209 Fibroblast_GF_fam
IPR008996 IL1/FGF
PANTHERiPTHR11486 PTHR11486, 1 hit
PTHR11486:SF28 PTHR11486:SF28, 1 hit
PfamiView protein in Pfam
PF00167 FGF, 1 hit
PRINTSiPR00263 HBGFFGF
SMARTiView protein in SMART
SM00442 FGF, 1 hit
SUPFAMiSSF50353 SSF50353, 1 hit
PROSITEiView protein in PROSITE
PS00247 HBGF_FGF, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P31371-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAPLGEVGNY FGVQDAVPFG NVPVLPVDSP VLLSDHLGQS EAGGLPRGPA
60 70 80 90 100
VTDLDHLKGI LRRRQLYCRT GFHLEIFPNG TIQGTRKDHS RFGILEFISI
110 120 130 140 150
AVGLVSIRGV DSGLYLGMNE KGELYGSEKL TQECVFREQF EENWYNTYSS
160 170 180 190 200
NLYKHVDTGR RYYVALNKDG TPREGTRTKR HQKFTHFLPR PVDPDKVPEL

YKDILSQS
Length:208
Mass (Da):23,441
Last modified:October 1, 1994 - v3
Checksum:iF32A0E7106EF59C9
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti24 – 26VLP → SLL AA sequence (PubMed:8428960).Curated3
Sequence conflicti34S → A AA sequence (PubMed:8428960).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02094494I → V1 PublicationCorresponds to variant dbSNP:rs12427696Ensembl.1
Natural variantiVAR_06325499S → N in SYNS3; expressed and secreted as efficiently as wild-type; however it induces compromised chondrocyte proliferation and differentiation accompanied by enhanced osteogenic differentiation and matrix mineralization of bone marrow-derived mesenchymal stem cells. 1 PublicationCorresponds to variant dbSNP:rs121918322Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D14838 mRNA Translation: BAA03572.1
AY682094 Genomic DNA Translation: AAT74624.1
AK290792 mRNA Translation: BAF83481.1
AL139378 Genomic DNA No translation available.
CH471075 Genomic DNA Translation: EAX08316.1
BC069692 mRNA Translation: AAH69692.1
BC103978 mRNA Translation: AAI03979.1
BC103979 mRNA Translation: AAI03980.1
CCDSiCCDS9298.1
PIRiA48137
RefSeqiNP_002001.1, NM_002010.2
UniGeneiHs.111

Genome annotation databases

EnsembliENST00000382353; ENSP00000371790; ENSG00000102678
GeneIDi2254
KEGGihsa:2254
UCSCiuc001uog.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiFGF9_HUMAN
AccessioniPrimary (citable) accession number: P31371
Secondary accession number(s): A8K427, Q3SY32
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: October 1, 1994
Last modified: March 28, 2018
This is version 186 of the entry and version 3 of the sequence. See 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

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome
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Main funding by: National Institutes of Health