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O60258 (FGF17_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 126. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Fibroblast growth factor 17

Short name=FGF-17
Gene names
Name:FGF17
ORF Names:UNQ161/PRO187
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length216 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.6

Subunit structure

Interacts with FGFR3 and FGFR4. Ref.6

Subcellular location

Secreted.

Tissue specificity

Preferentially expressed in the embryonic brain.

Developmental stage

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.

Involvement in disease

Hypogonadotropic hypogonadism 20 with or without anosmia (HH20) [MIM:615270]: A 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).
Note: 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 (Ref.8). Ref.8

Sequence similarities

Belongs to the heparin-binding growth factors family.

Ontologies

Keywords
   Cellular componentSecreted
   Coding sequence diversityAlternative splicing
   DiseaseDisease mutation
Hypogonadotropic hypogonadism
Kallmann syndrome
   DomainSignal
   Molecular functionDevelopmental protein
Growth factor
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processFc-epsilon receptor signaling pathway

Traceable author statement. Source: Reactome

cell-cell signaling

Traceable author statement Ref.1. Source: ProtInc

epidermal growth factor receptor signaling pathway

Traceable author statement. Source: Reactome

fibroblast growth factor receptor signaling pathway

Traceable author statement. Source: Reactome

innate immune response

Traceable author statement. Source: Reactome

insulin receptor signaling pathway

Traceable author statement. Source: Reactome

nervous system development

Traceable author statement Ref.1. Source: ProtInc

neurotrophin TRK receptor signaling pathway

Traceable author statement. Source: Reactome

phosphatidylinositol-mediated signaling

Traceable author statement. Source: Reactome

positive regulation of cell proliferation

Inferred from electronic annotation. Source: Ensembl

signal transduction

Traceable author statement Ref.1. Source: ProtInc

   Cellular_componentextracellular region

Non-traceable author statement Ref.2. Source: UniProtKB

extracellular space

Traceable author statement Ref.1. Source: ProtInc

   Molecular_functiongrowth factor activity

Traceable author statement Ref.1. Source: ProtInc

type 1 fibroblast growth factor receptor binding

Inferred from direct assay PubMed 16384934. Source: UniProtKB

type 2 fibroblast growth factor receptor binding

Inferred from direct assay PubMed 16384934. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O60258-1)

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.
Isoform 2 (identifier: O60258-2)

The sequence of this isoform differs from the canonical sequence as follows:
     25-35: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2222 Potential
Chain23 – 216194Fibroblast growth factor 17
PRO_0000008985

Amino acid modifications

Glycosylation1371N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence25 – 3511Missing in isoform 2.
VSP_008715
Natural variant1081I → 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. Ref.8
VAR_069947
Natural variant1771R → H in HH20; the mutant has reduced ability to activate FGFR1. Ref.8
VAR_069948
Natural variant1871N → S in HH20. Ref.8
VAR_069949

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified August 1, 1998. Version 1.
Checksum: 2EE0288675220F4C

FASTA21624,891
        10         20         30         40         50         60 
MGAARLLPNL TLCLQLLILC CQTQGENHPS PNFNQYVRDQ GAMTDQLSRR QIREYQLYSR 

        70         80         90        100        110        120 
TSGKHVQVTG RRISATAEDG NKFAKLIVET DTFGSRVRIK GAESEKYICM NKRGKLIGKP 

       130        140        150        160        170        180 
SGKSKDCVFT EIVLENNYTA FQNARHEGWF MAFTRQGRPR QASRSRQNQR EAHFIKRLYQ 

       190        200        210 
GQLPFPNHAE KQKQFEFVGS APTRRTKRTR RPQPLT 

« Hide

Isoform 2 [UniParc].

Checksum: 7DCA34B12D3602A7
Show »

FASTA20523,669

References

« Hide 'large scale' references
[1]"Structure and expression of a novel fibroblast growth factor, FGF-17, preferentially expressed in the embryonic brain."
Hoshikawa M., Ohbayashi N., Yonamine A., Konishi M., Ozaki K., Fukui S., Itoh N.
Biochem. Biophys. Res. Commun. 244:187-191(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Fetal brain.
[2]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[3]NIEHS SNPs program
Submitted (MAR-2002) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
[6]"Receptor specificity of the fibroblast growth factor family. The complete mammalian FGF family."
Zhang X., Ibrahimi O.A., Olsen S.K., Umemori H., Mohammadi M., Ornitz D.M.
J. Biol. Chem. 281:15694-15700(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH FGFR3 AND FGFR4, FUNCTION IN STIMULATION OF CELL PROLIFERATION.
[7]"Fibroblast growth factor signalling: from development to cancer."
Turner N., Grose R.
Nat. Rev. Cancer 10:116-129(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW.
[8]"Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism."
Miraoui H., Dwyer A.A., Sykiotis G.P., Plummer L., Chung W., Feng B., Beenken A., Clarke J., Pers T.H., Dworzynski P., Keefe K., Niedziela M., Raivio T., Crowley W.F. Jr., Seminara S.B., Quinton R., Hughes V.A., Kumanov P. expand/collapse author list , Young J., Yialamas M.A., Hall J.E., Van Vliet G., Chanoine J.P., Rubenstein J., Mohammadi M., Tsai P.S., Sidis Y., Lage K., Pitteloud N.
Am. J. Hum. Genet. 92:725-743(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HH20 THR-108; HIS-177 AND SER-187, CHARACTERIZATION OF VARIANTS HH20 THR-108 AND HIS-177.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_003858.1. NM_003867.2.
XP_005273733.1. XM_005273676.1.
UniGeneHs.248192.

3D structure databases

ProteinModelPortalO60258.
SMRO60258. Positions 33-178.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000352414.

PTM databases

PhosphoSiteO60258.

Proteomic databases

PaxDbO60258.
PRIDEO60258.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000359441; ENSP00000352414; ENSG00000158815. [O60258-1]
ENST00000518533; ENSP00000431041; ENSG00000158815. [O60258-2]
GeneID8822.
KEGGhsa:8822.
UCSCuc003xag.3. human. [O60258-1]
uc003xah.3. human. [O60258-2]

Organism-specific databases

CTD8822.
GeneCardsGC08P021899.
HGNCHGNC:3673. FGF17.
HPAHPA052600.
MIM603725. gene.
615270. phenotype.
neXtProtNX_O60258.
Orphanet478. Kallmann syndrome.
432. Normosmic congenital hypogonadotropic hypogonadism.
PharmGKBPA28112.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG327940.
HOGENOMHOG000115986.
HOVERGENHBG005659.
InParanoidO60258.
KOK04358.
OMACQTQVTA.
OrthoDBEOG7DFXD5.
PhylomeDBO60258.
TreeFamTF331233.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.
REACT_116125. Disease.
REACT_6900. Immune System.
SignaLinkO60258.

Gene expression databases

BgeeO60258.
CleanExHS_FGF17.
GenevestigatorO60258.

Family and domain databases

InterProIPR008996. Cytokine_IL1-like.
IPR028287. FGF17.
IPR002209. Fibroblast_GF_fam.
IPR028142. IL-1_fam/FGF_fam.
[Graphical view]
PANTHERPTHR11486. PTHR11486. 1 hit.
PTHR11486:SF3. PTHR11486:SF3. 1 hit.
PfamPF00167. FGF. 1 hit.
[Graphical view]
PRINTSPR00262. IL1HBGF.
SMARTSM00442. FGF. 1 hit.
[Graphical view]
SUPFAMSSF50353. SSF50353. 1 hit.
PROSITEPS00247. HBGF_FGF. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiFGF17.
GenomeRNAi8822.
NextBio33096.
PROO60258.
SOURCESearch...

Entry information

Entry nameFGF17_HUMAN
AccessionPrimary (citable) accession number: O60258
Secondary accession number(s): B7ZLG4, Q2M2W1
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: August 1, 1998
Last modified: April 16, 2014
This is version 126 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM