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Protein

Fibroblast growth factor 17

Gene

FGF17

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Molecular functionDevelopmental protein, Growth factor

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-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

EuPathDBiHostDB:ENSG00000158815.10
HGNCiHGNC:3673 FGF17
MIMi603725 gene
neXtProtiNX_O60258

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

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 dbSNP:rs398123024EnsemblClinVar.1
Natural variantiVAR_069948177R → H in HH20; the mutant has reduced ability to activate FGFR1. 1 PublicationCorresponds to variant dbSNP:rs398123025EnsemblClinVar.1
Natural variantiVAR_069949187N → S in HH20. 1 PublicationCorresponds to variant dbSNP:rs398123026EnsemblClinVar.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...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiO60258
PeptideAtlasiO60258
PRIDEiO60258
ProteomicsDBi49284
49285 [O60258-2]

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 Expressed in 86 organ(s), highest expression level in right hemisphere of cerebellum
CleanExiHS_FGF17
GenevisibleiO60258 HS

Organism-specific databases

HPAiHPA052600

Interactioni

Subunit structurei

Interacts with FGFR3 and FGFR4.1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi114349, 43 interactors
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
OMAiVHFIKRL
OrthoDBiEOG091G0NQH
PhylomeDBiO60258
TreeFamiTF331233

Family and domain databases

CDDicd00058 FGF, 1 hit
InterProiView protein in InterPro
IPR028287 FGF17
IPR002209 Fibroblast_GF_fam
IPR008996 IL1/FGF
PANTHERiPTHR11486 PTHR11486, 1 hit
PTHR11486:SF71 PTHR11486:SF71, 1 hit
PfamiView protein in Pfam
PF00167 FGF, 1 hit
SMARTiView protein in SMART
SM00442 FGF, 1 hit
SUPFAMiSSF50353 SSF50353, 1 hit
PROSITEiView protein in PROSITE
PS00247 HBGF_FGF, 1 hit

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 dbSNP:rs398123024EnsemblClinVar.1
Natural variantiVAR_069948177R → H in HH20; the mutant has reduced ability to activate FGFR1. 1 PublicationCorresponds to variant dbSNP:rs398123025EnsemblClinVar.1
Natural variantiVAR_069949187N → S in HH20. 1 PublicationCorresponds to variant dbSNP:rs398123026EnsemblClinVar.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

Similar proteinsi

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

BioGridi114349, 43 interactors
IntActiO60258, 1 interactor
STRINGi9606.ENSP00000352414

PTM databases

iPTMnetiO60258
PhosphoSitePlusiO60258

Polymorphism and mutation databases

BioMutaiFGF17

Proteomic databases

PaxDbiO60258
PeptideAtlasiO60258
PRIDEiO60258
ProteomicsDBi49284
49285 [O60258-2]

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
EuPathDBiHostDB:ENSG00000158815.10
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
OMAiVHFIKRL
OrthoDBiEOG091G0NQH
PhylomeDBiO60258
TreeFamiTF331233

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-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
PROiPR:O60258
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000158815 Expressed in 86 organ(s), highest expression level in right hemisphere of cerebellum
CleanExiHS_FGF17
GenevisibleiO60258 HS

Family and domain databases

CDDicd00058 FGF, 1 hit
InterProiView protein in InterPro
IPR028287 FGF17
IPR002209 Fibroblast_GF_fam
IPR008996 IL1/FGF
PANTHERiPTHR11486 PTHR11486, 1 hit
PTHR11486:SF71 PTHR11486:SF71, 1 hit
PfamiView protein in Pfam
PF00167 FGF, 1 hit
SMARTiView protein in SMART
SM00442 FGF, 1 hit
SUPFAMiSSF50353 SSF50353, 1 hit
PROSITEiView protein in PROSITE
PS00247 HBGF_FGF, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiFGF17_HUMAN
AccessioniPrimary (citable) accession number: O60258
Secondary accession number(s): B7ZLG4, Q2M2W1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: August 1, 1998
Last modified: November 7, 2018
This is version 160 of the entry and version 1 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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