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Protein

Fibroblast growth factor 5

Gene

FGF5

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 cell proliferation and cell differentiation. Required for normal regulation of the hair growth cycle. Functions as an inhibitor of hair elongation by promoting progression from anagen, the growth phase of the hair follicle, into catagen the apoptosis-induced regression phase (By similarity).By similarity1 Publication

GO - Molecular functioni

GO - Biological processi

  • cell-cell signaling Source: ProtInc
  • cell proliferation Source: ProtInc
  • fibroblast growth factor receptor signaling pathway Source: MGI
  • glial cell differentiation Source: Ensembl
  • MAPK cascade Source: Reactome
  • nervous system development Source: ProtInc
  • phosphatidylinositol-mediated signaling Source: Reactome
  • positive regulation of cell division Source: UniProtKB-KW
  • positive regulation of cell proliferation Source: MGI
  • regulation of phosphatidylinositol 3-kinase signaling Source: Reactome
  • signal transduction involved in regulation of gene expression Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Growth factor, Mitogen

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-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-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-5654726. Negative regulation of FGFR1 signaling.
R-HSA-5654727. Negative regulation of FGFR2 signaling.
R-HSA-5654732. Negative regulation of FGFR3 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.
SIGNORiP12034.

Names & Taxonomyi

Protein namesi
Recommended name:
Fibroblast growth factor 5
Short name:
FGF-5
Alternative name(s):
Heparin-binding growth factor 5
Short name:
HBGF-5
Smag-82
Gene namesi
Name:FGF5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:3683. FGF5.

Subcellular locationi

GO - Cellular componenti

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

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Trichomegaly (TCMGLY)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA morphologic trait characterized by unusually long eyelashes and mild hypertrichosis of eyebrows. It can be observed in association with corneal irritation, cataracts, and hereditary spherocytosis.
See also OMIM:190330
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti174 – 1741Y → H in TCMGLY. 1 Publication
Corresponds to variant rs587777581 [ dbSNP | Ensembl ].
VAR_072566

Keywords - Diseasei

Disease mutation, Proto-oncogene

Organism-specific databases

MalaCardsiFGF5.
MIMi190330. phenotype.
Orphaneti411788. Familial isolated trichomegaly.
PharmGKBiPA28122.

Polymorphism and mutation databases

BioMutaiFGF5.
DMDMi85700417.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2020Sequence analysisAdd
BLAST
Chaini21 – 268248Fibroblast growth factor 5PRO_0000008958Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi110 – 1101N-linked (GlcNAc...)Sequence analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiP12034.
PeptideAtlasiP12034.
PRIDEiP12034.

PTM databases

iPTMnetiP12034.
PhosphoSiteiP12034.

Expressioni

Tissue specificityi

Expressed in neonatal brain.

Developmental stagei

Can transform NIH 3T3 cells.

Gene expression databases

BgeeiENSG00000138675.
CleanExiHS_FGF5.
ExpressionAtlasiP12034. baseline and differential.
GenevisibleiP12034. HS.

Organism-specific databases

HPAiCAB010313.
HPA042442.

Interactioni

Subunit structurei

Interacts with FGFR1 and FGFR2. Affinity between fibroblast growth factors (FGFs) and their receptors is increased by heparan sulfate glycosaminoglycans that function as coreceptors.1 Publication

GO - Molecular functioni

  • fibroblast growth factor receptor binding Source: MGI

Protein-protein interaction databases

BioGridi108541. 4 interactions.
DIPiDIP-4018N.
IntActiP12034. 4 interactions.
STRINGi9606.ENSP00000311697.

Structurei

3D structure databases

ProteinModelPortaliP12034.
SMRiP12034. Positions 87-227.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi49 – 524Poly-Ser
Compositional biasi55 – 628Poly-Ser

Sequence similaritiesi

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG3885. Eukaryota.
ENOG4111IPH. LUCA.
GeneTreeiENSGT00760000118859.
HOGENOMiHOG000236341.
HOVERGENiHBG007580.
InParanoidiP12034.
KOiK04358.
OMAiLSAWAHG.
OrthoDBiEOG091G0NAY.
PhylomeDBiP12034.
TreeFamiTF317805.

Family and domain databases

InterProiIPR008996. Cytokine_IL1-like.
IPR028240. FGF5.
IPR002209. Fibroblast_GF_fam.
IPR028142. IL-1_fam/FGF_fam.
[Graphical view]
PANTHERiPTHR11486. PTHR11486. 1 hit.
PTHR11486:SF23. PTHR11486:SF23. 1 hit.
PfamiPF00167. FGF. 1 hit.
[Graphical view]
PRINTSiPR00263. HBGFFGF.
PR00262. 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 Long (identifier: P12034-1) [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
MSLSFLLLLF FSHLILSAWA HGEKRLAPKG QPGPAATDRN PRGSSSRQSS
60 70 80 90 100
SSAMSSSSAS SSPAASLGSQ GSGLEQSSFQ WSPSGRRTGS LYCRVGIGFH
110 120 130 140 150
LQIYPDGKVN GSHEANMLSV LEIFAVSQGI VGIRGVFSNK FLAMSKKGKL
160 170 180 190 200
HASAKFTDDC KFRERFQENS YNTYASAIHR TEKTGREWYV ALNKRGKAKR
210 220 230 240 250
GCSPRVKPQH ISTHFLPRFK QSEQPELSFT VTVPEKKKPP SPIKPKIPLS
260
APRKNTNSVK YRLKFRFG
Length:268
Mass (Da):29,551
Last modified:January 24, 2006 - v4
Checksum:i28B7268B26781BCF
GO
Isoform Short (identifier: P12034-2) [UniParc]FASTAAdd to basket
Also known as: FGF-5S

The sequence of this isoform differs from the canonical sequence as follows:
     120-123: VLEI → QVHR
     124-268: Missing.

Note: Seems to have an antagonistic effect compared to that of the isoform Long.
Show »
Length:123
Mass (Da):13,006
Checksum:iE77B31D2CECE1096
GO

Sequence cautioni

The sequence AAB60698 differs from that shown. Reason: Erroneous gene model prediction. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti42 – 421R → I in AAB06463 (PubMed:1700424).Curated
Sequence conflicti83 – 864PSGR → LGA in AAB60699 (PubMed:3211147).Curated
Sequence conflicti224 – 2241Q → QQ in AAZ67914 (Ref. 6) Curated
Sequence conflicti238 – 2381K → N in AAB06463 (PubMed:1700424).Curated
Sequence conflicti238 – 2381K → N in AAB60699 (PubMed:3211147).Curated
Sequence conflicti245 – 2451P → S in AAB06463 (PubMed:1700424).Curated
Sequence conflicti245 – 2451P → S in AAB60699 (PubMed:3211147).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti54 – 541M → V.1 Publication
Corresponds to variant rs33950145 [ dbSNP | Ensembl ].
VAR_025174
Natural varianti174 – 1741Y → H in TCMGLY. 1 Publication
Corresponds to variant rs587777581 [ dbSNP | Ensembl ].
VAR_072566

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei120 – 1234VLEI → QVHR in isoform Short. 3 PublicationsVSP_001518
Alternative sequencei124 – 268145Missing in isoform Short. 3 PublicationsVSP_001519Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M37825 mRNA. Translation: AAB06463.1.
M23536, M23534, M23535 Genomic DNA. Translation: AAB60699.1.
M23534 Genomic DNA. Translation: AAB60698.1. Sequence problems.
AB016517 mRNA. Translation: BAA33738.1.
AF171928 mRNA. Translation: AAF89742.1.
AF535149 mRNA. Translation: AAN04097.1.
DQ151636 Genomic DNA. Translation: AAZ67914.1.
AK291962 mRNA. Translation: BAF84651.1.
AK312065 mRNA. Translation: BAG35001.1.
CH471057 Genomic DNA. Translation: EAX05859.1.
CH471057 Genomic DNA. Translation: EAX05860.1.
BC074858 mRNA. Translation: AAH74858.1.
BC074859 mRNA. Translation: AAH74859.1.
BC131502 mRNA. Translation: AAI31503.1.
CCDSiCCDS34021.1. [P12034-1]
CCDS3586.1. [P12034-2]
PIRiA31194. TVHUF5.
B31194.
RefSeqiNP_004455.2. NM_004464.3. [P12034-1]
NP_149134.1. NM_033143.2. [P12034-2]
UniGeneiHs.37055.

Genome annotation databases

EnsembliENST00000312465; ENSP00000311697; ENSG00000138675. [P12034-1]
ENST00000456523; ENSP00000398353; ENSG00000138675. [P12034-2]
GeneIDi2250.
KEGGihsa:2250.
UCSCiuc003hmd.4. human. [P12034-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M37825 mRNA. Translation: AAB06463.1.
M23536, M23534, M23535 Genomic DNA. Translation: AAB60699.1.
M23534 Genomic DNA. Translation: AAB60698.1. Sequence problems.
AB016517 mRNA. Translation: BAA33738.1.
AF171928 mRNA. Translation: AAF89742.1.
AF535149 mRNA. Translation: AAN04097.1.
DQ151636 Genomic DNA. Translation: AAZ67914.1.
AK291962 mRNA. Translation: BAF84651.1.
AK312065 mRNA. Translation: BAG35001.1.
CH471057 Genomic DNA. Translation: EAX05859.1.
CH471057 Genomic DNA. Translation: EAX05860.1.
BC074858 mRNA. Translation: AAH74858.1.
BC074859 mRNA. Translation: AAH74859.1.
BC131502 mRNA. Translation: AAI31503.1.
CCDSiCCDS34021.1. [P12034-1]
CCDS3586.1. [P12034-2]
PIRiA31194. TVHUF5.
B31194.
RefSeqiNP_004455.2. NM_004464.3. [P12034-1]
NP_149134.1. NM_033143.2. [P12034-2]
UniGeneiHs.37055.

3D structure databases

ProteinModelPortaliP12034.
SMRiP12034. Positions 87-227.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108541. 4 interactions.
DIPiDIP-4018N.
IntActiP12034. 4 interactions.
STRINGi9606.ENSP00000311697.

PTM databases

iPTMnetiP12034.
PhosphoSiteiP12034.

Polymorphism and mutation databases

BioMutaiFGF5.
DMDMi85700417.

Proteomic databases

PaxDbiP12034.
PeptideAtlasiP12034.
PRIDEiP12034.

Protocols and materials databases

DNASUi2250.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000312465; ENSP00000311697; ENSG00000138675. [P12034-1]
ENST00000456523; ENSP00000398353; ENSG00000138675. [P12034-2]
GeneIDi2250.
KEGGihsa:2250.
UCSCiuc003hmd.4. human. [P12034-1]

Organism-specific databases

CTDi2250.
GeneCardsiFGF5.
HGNCiHGNC:3683. FGF5.
HPAiCAB010313.
HPA042442.
MalaCardsiFGF5.
MIMi165190. gene.
190330. phenotype.
neXtProtiNX_P12034.
Orphaneti411788. Familial isolated trichomegaly.
PharmGKBiPA28122.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3885. Eukaryota.
ENOG4111IPH. LUCA.
GeneTreeiENSGT00760000118859.
HOGENOMiHOG000236341.
HOVERGENiHBG007580.
InParanoidiP12034.
KOiK04358.
OMAiLSAWAHG.
OrthoDBiEOG091G0NAY.
PhylomeDBiP12034.
TreeFamiTF317805.

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-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-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-5654726. Negative regulation of FGFR1 signaling.
R-HSA-5654727. Negative regulation of FGFR2 signaling.
R-HSA-5654732. Negative regulation of FGFR3 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.
SIGNORiP12034.

Miscellaneous databases

GeneWikiiFGF5.
GenomeRNAii2250.
PROiP12034.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000138675.
CleanExiHS_FGF5.
ExpressionAtlasiP12034. baseline and differential.
GenevisibleiP12034. HS.

Family and domain databases

InterProiIPR008996. Cytokine_IL1-like.
IPR028240. FGF5.
IPR002209. Fibroblast_GF_fam.
IPR028142. IL-1_fam/FGF_fam.
[Graphical view]
PANTHERiPTHR11486. PTHR11486. 1 hit.
PTHR11486:SF23. PTHR11486:SF23. 1 hit.
PfamiPF00167. FGF. 1 hit.
[Graphical view]
PRINTSiPR00263. HBGFFGF.
PR00262. IL1HBGF.
SMARTiSM00442. FGF. 1 hit.
[Graphical view]
SUPFAMiSSF50353. SSF50353. 1 hit.
PROSITEiPS00247. HBGF_FGF. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiFGF5_HUMAN
AccessioniPrimary (citable) accession number: P12034
Secondary accession number(s): B2R554
, O75846, Q3Y8M3, Q8NF90
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1989
Last sequence update: January 24, 2006
Last modified: September 7, 2016
This is version 156 of the entry and version 4 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 4
    Human chromosome 4: 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.