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Protein

Fibroblast growth factor 17

Gene

FGF17

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Plays an important role in the regulation of embryonic development and as signaling molecule in the induction and patterning of the embryonic brain. Required for normal brain development.1 Publication

GO - Molecular functioni

GO - Biological processi

  • cell-cell signaling Source: ProtInc
  • fibroblast growth factor receptor signaling pathway Source: Reactome
  • MAPK cascade Source: Reactome
  • nervous system development Source: ProtInc
  • phosphatidylinositol-mediated signaling Source: Reactome
  • positive regulation of cell proliferation Source: Ensembl
  • regulation of phosphatidylinositol 3-kinase signaling Source: Reactome
  • signal transduction Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, Growth factor

Enzyme and pathway databases

BioCyciZFISH:ENSG00000158815-MONOMER.
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-5658623. FGFRL1 modulation of FGFR1 signaling.
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.
SignaLinkiO60258.
SIGNORiO60258.

Names & Taxonomyi

Protein namesi
Recommended name:
Fibroblast growth factor 17
Short name:
FGF-17
Gene namesi
Name:FGF17
ORF Names:UNQ161/PRO187
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:3673. FGF17.

Subcellular locationi

GO - Cellular componenti

  • extracellular region Source: UniProtKB
  • extracellular space Source: ProtInc
  • intracellular Source: GOC
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Hypogonadotropic hypogonadism 20 with or without anosmia (HH20)1 Publication
The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. Some patients carrying mutations in FGF17 also have a mutation in another HH-associated gene including FGFR1, HS6ST1 and FLRT3 (PubMed:23643382).1 Publication
Disease descriptionA disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
See also OMIM:615270
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069947108I → T in HH20; rare variant associated with susceptibility to disease; some patients have a second mutation in another HH-associated gene including FGFR1, HS6ST1 and FLRT3; the mutant has reduced ability to activate FGFR1. 1 PublicationCorresponds to variant rs398123024dbSNPEnsembl.1
Natural variantiVAR_069948177R → H in HH20; the mutant has reduced ability to activate FGFR1. 1 PublicationCorresponds to variant rs398123025dbSNPEnsembl.1
Natural variantiVAR_069949187N → S in HH20. 1 PublicationCorresponds to variant rs398123026dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Hypogonadotropic hypogonadism, Kallmann syndrome

Organism-specific databases

DisGeNETi8822.
MalaCardsiFGF17.
MIMi615270. phenotype.
OpenTargetsiENSG00000158815.
Orphaneti478. Kallmann syndrome.
432. Normosmic congenital hypogonadotropic hypogonadism.
PharmGKBiPA28112.

Polymorphism and mutation databases

BioMutaiFGF17.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 22Sequence analysisAdd BLAST22
ChainiPRO_000000898523 – 216Fibroblast growth factor 17Add BLAST194

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi137N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiO60258.
PeptideAtlasiO60258.
PRIDEiO60258.

PTM databases

iPTMnetiO60258.
PhosphoSitePlusiO60258.

Expressioni

Tissue specificityi

Preferentially expressed in the embryonic brain.

Developmental stagei

Detected in embryos at E14.5, but not at E10.5 and E19.5. Preferentially expressed in the neuroepithelia of the isthmus and septum of the embryonic brain at E14.5.

Gene expression databases

BgeeiENSG00000158815.
CleanExiHS_FGF17.
GenevisibleiO60258. HS.

Organism-specific databases

HPAiHPA052600.

Interactioni

Subunit structurei

Interacts with FGFR3 and FGFR4.1 Publication

GO - Molecular functioni

  • growth factor activity Source: ProtInc
  • type 1 fibroblast growth factor receptor binding Source: UniProtKB
  • type 2 fibroblast growth factor receptor binding Source: UniProtKB

Protein-protein interaction databases

IntActiO60258. 1 interactor.
STRINGi9606.ENSP00000352414.

Structurei

3D structure databases

ProteinModelPortaliO60258.
SMRiO60258.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG3885. Eukaryota.
ENOG4111IPH. LUCA.
GeneTreeiENSGT00730000110785.
HOGENOMiHOG000115986.
HOVERGENiHBG005659.
InParanoidiO60258.
KOiK04358.
OMAiCQTQVTA.
OrthoDBiEOG091G0NQH.
PhylomeDBiO60258.
TreeFamiTF331233.

Family and domain databases

CDDicd00058. FGF. 1 hit.
InterProiIPR008996. Cytokine_IL1-like.
IPR028287. FGF17.
IPR002209. Fibroblast_GF_fam.
IPR028142. IL-1_fam/FGF_fam.
[Graphical view]
PANTHERiPTHR11486. PTHR11486. 1 hit.
PTHR11486:SF71. PTHR11486:SF71. 1 hit.
PfamiPF00167. FGF. 1 hit.
[Graphical view]
PRINTSiPR00262. IL1HBGF.
SMARTiSM00442. FGF. 1 hit.
[Graphical view]
SUPFAMiSSF50353. SSF50353. 1 hit.
PROSITEiPS00247. HBGF_FGF. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O60258-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGAARLLPNL TLCLQLLILC CQTQGENHPS PNFNQYVRDQ GAMTDQLSRR
60 70 80 90 100
QIREYQLYSR TSGKHVQVTG RRISATAEDG NKFAKLIVET DTFGSRVRIK
110 120 130 140 150
GAESEKYICM NKRGKLIGKP SGKSKDCVFT EIVLENNYTA FQNARHEGWF
160 170 180 190 200
MAFTRQGRPR QASRSRQNQR EAHFIKRLYQ GQLPFPNHAE KQKQFEFVGS
210
APTRRTKRTR RPQPLT
Length:216
Mass (Da):24,891
Last modified:August 1, 1998 - v1
Checksum:i2EE0288675220F4C
GO
Isoform 2 (identifier: O60258-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     25-35: Missing.

Note: No experimental confirmation available.
Show »
Length:205
Mass (Da):23,669
Checksum:i7DCA34B12D3602A7
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069947108I → T in HH20; rare variant associated with susceptibility to disease; some patients have a second mutation in another HH-associated gene including FGFR1, HS6ST1 and FLRT3; the mutant has reduced ability to activate FGFR1. 1 PublicationCorresponds to variant rs398123024dbSNPEnsembl.1
Natural variantiVAR_069948177R → H in HH20; the mutant has reduced ability to activate FGFR1. 1 PublicationCorresponds to variant rs398123025dbSNPEnsembl.1
Natural variantiVAR_069949187N → S in HH20. 1 PublicationCorresponds to variant rs398123026dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00871525 – 35Missing in isoform 2. 2 PublicationsAdd BLAST11

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB009249 mRNA. Translation: BAA25429.1.
AY358869 mRNA. Translation: AAQ89228.1.
AF497475 Genomic DNA. Translation: AAM09570.1.
CH471080 Genomic DNA. Translation: EAW63729.1.
BC069475 mRNA. Translation: AAH69475.1.
BC105131 mRNA. Translation: AAI05132.1.
BC113489 mRNA. Translation: AAI13490.1.
BC143789 mRNA. Translation: AAI43790.1.
CCDSiCCDS6019.1. [O60258-1]
CCDS78310.1. [O60258-2]
RefSeqiNP_001291407.1. NM_001304478.1. [O60258-2]
NP_003858.1. NM_003867.3. [O60258-1]
UniGeneiHs.248192.

Genome annotation databases

EnsembliENST00000359441; ENSP00000352414; ENSG00000158815. [O60258-1]
ENST00000518533; ENSP00000431041; ENSG00000158815. [O60258-2]
GeneIDi8822.
KEGGihsa:8822.
UCSCiuc003xag.4. human. [O60258-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB009249 mRNA. Translation: BAA25429.1.
AY358869 mRNA. Translation: AAQ89228.1.
AF497475 Genomic DNA. Translation: AAM09570.1.
CH471080 Genomic DNA. Translation: EAW63729.1.
BC069475 mRNA. Translation: AAH69475.1.
BC105131 mRNA. Translation: AAI05132.1.
BC113489 mRNA. Translation: AAI13490.1.
BC143789 mRNA. Translation: AAI43790.1.
CCDSiCCDS6019.1. [O60258-1]
CCDS78310.1. [O60258-2]
RefSeqiNP_001291407.1. NM_001304478.1. [O60258-2]
NP_003858.1. NM_003867.3. [O60258-1]
UniGeneiHs.248192.

3D structure databases

ProteinModelPortaliO60258.
SMRiO60258.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiO60258. 1 interactor.
STRINGi9606.ENSP00000352414.

PTM databases

iPTMnetiO60258.
PhosphoSitePlusiO60258.

Polymorphism and mutation databases

BioMutaiFGF17.

Proteomic databases

PaxDbiO60258.
PeptideAtlasiO60258.
PRIDEiO60258.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000359441; ENSP00000352414; ENSG00000158815. [O60258-1]
ENST00000518533; ENSP00000431041; ENSG00000158815. [O60258-2]
GeneIDi8822.
KEGGihsa:8822.
UCSCiuc003xag.4. human. [O60258-1]

Organism-specific databases

CTDi8822.
DisGeNETi8822.
GeneCardsiFGF17.
HGNCiHGNC:3673. FGF17.
HPAiHPA052600.
MalaCardsiFGF17.
MIMi603725. gene.
615270. phenotype.
neXtProtiNX_O60258.
OpenTargetsiENSG00000158815.
Orphaneti478. Kallmann syndrome.
432. Normosmic congenital hypogonadotropic hypogonadism.
PharmGKBiPA28112.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3885. Eukaryota.
ENOG4111IPH. LUCA.
GeneTreeiENSGT00730000110785.
HOGENOMiHOG000115986.
HOVERGENiHBG005659.
InParanoidiO60258.
KOiK04358.
OMAiCQTQVTA.
OrthoDBiEOG091G0NQH.
PhylomeDBiO60258.
TreeFamiTF331233.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000158815-MONOMER.
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-5658623. FGFRL1 modulation of FGFR1 signaling.
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.
SignaLinkiO60258.
SIGNORiO60258.

Miscellaneous databases

GeneWikiiFGF17.
GenomeRNAii8822.
PROiO60258.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000158815.
CleanExiHS_FGF17.
GenevisibleiO60258. HS.

Family and domain databases

CDDicd00058. FGF. 1 hit.
InterProiIPR008996. Cytokine_IL1-like.
IPR028287. FGF17.
IPR002209. Fibroblast_GF_fam.
IPR028142. IL-1_fam/FGF_fam.
[Graphical view]
PANTHERiPTHR11486. PTHR11486. 1 hit.
PTHR11486:SF71. PTHR11486:SF71. 1 hit.
PfamiPF00167. FGF. 1 hit.
[Graphical view]
PRINTSiPR00262. IL1HBGF.
SMARTiSM00442. FGF. 1 hit.
[Graphical view]
SUPFAMiSSF50353. SSF50353. 1 hit.
PROSITEiPS00247. HBGF_FGF. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiFGF17_HUMAN
AccessioniPrimary (citable) accession number: O60258
Secondary accession number(s): B7ZLG4, Q2M2W1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: August 1, 1998
Last modified: November 30, 2016
This is version 149 of the entry and version 1 of the sequence. [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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.