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O60258

- FGF17_HUMAN

UniProt

O60258 - FGF17_HUMAN

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Protein
Fibroblast growth factor 17
Gene
FGF17, UNQ161/PRO187
Organism
Homo sapiens (Human)
Status
Reviewed - 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

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

GO - Biological processi

  1. Fc-epsilon receptor signaling pathway Source: Reactome
  2. cell-cell signaling Source: ProtInc
  3. epidermal growth factor receptor signaling pathway Source: Reactome
  4. fibroblast growth factor receptor signaling pathway Source: Reactome
  5. innate immune response Source: Reactome
  6. insulin receptor signaling pathway Source: Reactome
  7. nervous system development Source: ProtInc
  8. neurotrophin TRK receptor signaling pathway Source: Reactome
  9. phosphatidylinositol-mediated signaling Source: Reactome
  10. positive regulation of cell proliferation Source: Ensembl
  11. signal transduction Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, Growth factor

Enzyme and pathway databases

ReactomeiREACT_111184. Negative regulation of FGFR signaling.
REACT_120863. Activated point mutants of FGFR2.
REACT_121153. Signaling by activated point mutants of FGFR1.
REACT_121249. Signaling by FGFR3 mutants.
REACT_121337. Signaling by activated point mutants of FGFR3.
REACT_121398. Signaling by FGFR mutants.
REACT_147727. Constitutive PI3K/AKT Signaling in Cancer.
REACT_21247. FRS2-mediated cascade.
REACT_21270. PI-3K cascade.
REACT_21310. Phospholipase C-mediated cascade.
REACT_21374. SHC-mediated cascade.
REACT_75829. PIP3 activates AKT signaling.
REACT_9413. FGFR2c ligand binding and activation.
REACT_9452. FGFR4 ligand binding and activation.
REACT_9508. FGFR3b ligand binding and activation.
REACT_9510. FGFR3c ligand binding and activation.
REACT_9515. FGFR1c ligand binding and activation.
REACT_976. PI3K Cascade.
SignaLinkiO60258.

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
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:3673. FGF17.

Subcellular locationi

GO - Cellular componenti

  1. extracellular region Source: UniProtKB
  2. extracellular space Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

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 (1 Publication).1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti108 – 1081I → 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 Publication
VAR_069947
Natural varianti177 – 1771R → H in HH20; the mutant has reduced ability to activate FGFR1. 1 Publication
VAR_069948
Natural varianti187 – 1871N → S in HH20. 1 Publication
VAR_069949

Keywords - Diseasei

Disease mutation, Hypogonadotropic hypogonadism, Kallmann syndrome

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2222 Reviewed prediction
Add
BLAST
Chaini23 – 216194Fibroblast growth factor 17
PRO_0000008985Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi137 – 1371N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiO60258.
PRIDEiO60258.

PTM databases

PhosphoSiteiO60258.

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

BgeeiO60258.
CleanExiHS_FGF17.
GenevestigatoriO60258.

Organism-specific databases

HPAiHPA052600.

Interactioni

Subunit structurei

Interacts with FGFR3 and FGFR4.1 Publication

Protein-protein interaction databases

STRINGi9606.ENSP00000352414.

Structurei

3D structure databases

ProteinModelPortaliO60258.
SMRiO60258. Positions 33-178.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG327940.
HOGENOMiHOG000115986.
HOVERGENiHBG005659.
InParanoidiO60258.
KOiK04358.
OMAiCQTQVTA.
OrthoDBiEOG7DFXD5.
PhylomeDBiO60258.
TreeFamiTF331233.

Family and domain databases

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. Align

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

MGAARLLPNL TLCLQLLILC CQTQGENHPS PNFNQYVRDQ GAMTDQLSRR    50
QIREYQLYSR TSGKHVQVTG RRISATAEDG NKFAKLIVET DTFGSRVRIK 100
GAESEKYICM NKRGKLIGKP SGKSKDCVFT EIVLENNYTA FQNARHEGWF 150
MAFTRQGRPR QASRSRQNQR EAHFIKRLYQ GQLPFPNHAE KQKQFEFVGS 200
APTRRTKRTR RPQPLT 216
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti108 – 1081I → 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 Publication
VAR_069947
Natural varianti177 – 1771R → H in HH20; the mutant has reduced ability to activate FGFR1. 1 Publication
VAR_069948
Natural varianti187 – 1871N → S in HH20. 1 Publication
VAR_069949

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei25 – 3511Missing in isoform 2.
VSP_008715Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
RefSeqiNP_003858.1. NM_003867.2. [O60258-1]
XP_005273733.1. XM_005273676.1. [O60258-2]
UniGeneiHs.248192.

Genome annotation databases

EnsembliENST00000359441; ENSP00000352414; ENSG00000158815. [O60258-1]
ENST00000518533; ENSP00000431041; ENSG00000158815. [O60258-2]
GeneIDi8822.
KEGGihsa:8822.
UCSCiuc003xag.3. human. [O60258-1]
uc003xah.3. human. [O60258-2]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS6019.1. [O60258-1 ]
RefSeqi NP_003858.1. NM_003867.2. [O60258-1 ]
XP_005273733.1. XM_005273676.1. [O60258-2 ]
UniGenei Hs.248192.

3D structure databases

ProteinModelPortali O60258.
SMRi O60258. Positions 33-178.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000352414.

PTM databases

PhosphoSitei O60258.

Proteomic databases

PaxDbi O60258.
PRIDEi O60258.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000359441 ; ENSP00000352414 ; ENSG00000158815 . [O60258-1 ]
ENST00000518533 ; ENSP00000431041 ; ENSG00000158815 . [O60258-2 ]
GeneIDi 8822.
KEGGi hsa:8822.
UCSCi uc003xag.3. human. [O60258-1 ]
uc003xah.3. human. [O60258-2 ]

Organism-specific databases

CTDi 8822.
GeneCardsi GC08P021899.
HGNCi HGNC:3673. FGF17.
HPAi HPA052600.
MIMi 603725. gene.
615270. phenotype.
neXtProti NX_O60258.
Orphaneti 478. Kallmann syndrome.
432. Normosmic congenital hypogonadotropic hypogonadism.
PharmGKBi PA28112.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG327940.
HOGENOMi HOG000115986.
HOVERGENi HBG005659.
InParanoidi O60258.
KOi K04358.
OMAi CQTQVTA.
OrthoDBi EOG7DFXD5.
PhylomeDBi O60258.
TreeFami TF331233.

Enzyme and pathway databases

Reactomei REACT_111184. Negative regulation of FGFR signaling.
REACT_120863. Activated point mutants of FGFR2.
REACT_121153. Signaling by activated point mutants of FGFR1.
REACT_121249. Signaling by FGFR3 mutants.
REACT_121337. Signaling by activated point mutants of FGFR3.
REACT_121398. Signaling by FGFR mutants.
REACT_147727. Constitutive PI3K/AKT Signaling in Cancer.
REACT_21247. FRS2-mediated cascade.
REACT_21270. PI-3K cascade.
REACT_21310. Phospholipase C-mediated cascade.
REACT_21374. SHC-mediated cascade.
REACT_75829. PIP3 activates AKT signaling.
REACT_9413. FGFR2c ligand binding and activation.
REACT_9452. FGFR4 ligand binding and activation.
REACT_9508. FGFR3b ligand binding and activation.
REACT_9510. FGFR3c ligand binding and activation.
REACT_9515. FGFR1c ligand binding and activation.
REACT_976. PI3K Cascade.
SignaLinki O60258.

Miscellaneous databases

GeneWikii FGF17.
GenomeRNAii 8822.
NextBioi 33096.
PROi O60258.
SOURCEi Search...

Gene expression databases

Bgeei O60258.
CleanExi HS_FGF17.
Genevestigatori O60258.

Family and domain databases

InterProi IPR008996. Cytokine_IL1-like.
IPR028287. FGF17.
IPR002209. Fibroblast_GF_fam.
IPR028142. IL-1_fam/FGF_fam.
[Graphical view ]
PANTHERi PTHR11486. PTHR11486. 1 hit.
PTHR11486:SF71. PTHR11486:SF71. 1 hit.
Pfami PF00167. FGF. 1 hit.
[Graphical view ]
PRINTSi PR00262. IL1HBGF.
SMARTi SM00442. FGF. 1 hit.
[Graphical view ]
SUPFAMi SSF50353. SSF50353. 1 hit.
PROSITEi PS00247. HBGF_FGF. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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. 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. Cited for: VARIANTS HH20 THR-108; HIS-177 AND SER-187, CHARACTERIZATION OF VARIANTS HH20 THR-108 AND HIS-177.

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: September 3, 2014
This is version 130 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

External Data

Dasty 3

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