FGF6_HUMAN
ID FGF6_HUMAN Reviewed; 208 AA.
AC P10767; Q0VAE1;
DT 01-JUL-1989, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1995, sequence version 4.
DT 03-AUG-2022, entry version 194.
DE RecName: Full=Fibroblast growth factor 6;
DE Short=FGF-6;
DE AltName: Full=Heparin secretory-transforming protein 2;
DE Short=HST-2;
DE Short=HSTF-2;
DE AltName: Full=Heparin-binding growth factor 6;
DE Short=HBGF-6;
DE Flags: Precursor;
GN Name=FGF6; Synonyms=HST2, HSTF2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=1886714;
RA Coulier F., Batoz M., Marics I., de Lapeyriere O., Birnbaum D.;
RT "Putative structure of the FGF6 gene product and role of the signal
RT peptide.";
RL Oncogene 6:1437-1444(1991).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS ALA-36; VAL-63; VAL-174 AND
RP TRP-191.
RG NIEHS SNPs program;
RL Submitted (MAR-2004) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 11-208.
RX PubMed=1549352;
RA Iida S., Yoshida T., Naito K., Sakamoto H., Katoh O., Hirohashi S.,
RA Sato T., Onda M., Sugimura T., Terada M.;
RT "Human hst-2 (FGF-6) oncogene: cDNA cloning and characterization.";
RL Oncogene 7:303-309(1992).
RN [5]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 81-208.
RX PubMed=2649847;
RA Marics I., Adelaide J., Raybaud F., Mattei M.-G., Coulier F., Planche J.,
RA de Lapeyriere O., Birnbaum D.;
RT "Characterization of the HST-related FGF.6 gene, a new member of the
RT fibroblast growth factor gene family.";
RL Oncogene 4:335-340(1989).
RN [6]
RP INTERACTION WITH FGFR1; FGFR2 AND FGFR4, AND FUNCTION IN CELL
RP PROLIFERATION.
RX PubMed=8663044; DOI=10.1074/jbc.271.25.15292;
RA Ornitz D.M., Xu J., Colvin J.S., McEwen D.G., MacArthur C.A., Coulier F.,
RA Gao G., Goldfarb M.;
RT "Receptor specificity of the fibroblast growth factor family.";
RL J. Biol. Chem. 271:15292-15297(1996).
RN [7]
RP REVIEW.
RX PubMed=20094046; DOI=10.1038/nrc2780;
RA Turner N., Grose R.;
RT "Fibroblast growth factor signalling: from development to cancer.";
RL Nat. Rev. Cancer 10:116-129(2010).
CC -!- FUNCTION: Plays an important role in the regulation of cell
CC proliferation, cell differentiation, angiogenesis and myogenesis, and
CC is required for normal muscle regeneration.
CC {ECO:0000269|PubMed:8663044}.
CC -!- SUBUNIT: Interacts with FGFR1, FGFR2 and FGFR4. Affinity between
CC fibroblast growth factors (FGFs) and their receptors is increased by
CC heparan sulfate glycosaminoglycans that function as coreceptors.
CC {ECO:0000269|PubMed:8663044}.
CC -!- INTERACTION:
CC P10767; P61601: NCALD; NbExp=3; IntAct=EBI-11479013, EBI-749635;
CC -!- SUBCELLULAR LOCATION: Secreted, extracellular space.
CC -!- TISSUE SPECIFICITY: Leukemia cell lines with platelet/ megakaryocytic
CC differentiation potential.
CC -!- SIMILARITY: Belongs to the heparin-binding growth factors family.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAA40359.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=CAA40360.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC -!- WEB RESOURCE: Name=NIEHS-SNPs;
CC URL="http://egp.gs.washington.edu/data/fgf6/";
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DR EMBL; X57075; CAA40358.1; -; Genomic_DNA.
DR EMBL; X57075; CAA40359.1; ALT_INIT; Genomic_DNA.
DR EMBL; X57075; CAA40360.1; ALT_INIT; Genomic_DNA.
DR EMBL; AY581424; AAS79318.1; -; Genomic_DNA.
DR EMBL; BC121097; AAI21098.1; -; mRNA.
DR EMBL; BC121098; AAI21099.1; -; mRNA.
DR EMBL; X63454; CAA45054.1; -; mRNA.
DR EMBL; X14071; CAB37648.2; -; Genomic_DNA.
DR EMBL; X14072; CAB37648.2; JOINED; Genomic_DNA.
DR EMBL; X14073; CAB37648.2; JOINED; Genomic_DNA.
DR CCDS; CCDS8527.1; -.
DR PIR; S20102; S20102.
DR RefSeq; NP_066276.2; NM_020996.2.
DR AlphaFoldDB; P10767; -.
DR SMR; P10767; -.
DR BioGRID; 108542; 4.
DR DIP; DIP-6035N; -.
DR IntAct; P10767; 2.
DR STRING; 9606.ENSP00000228837; -.
DR GlyGen; P10767; 1 site.
DR PhosphoSitePlus; P10767; -.
DR BioMuta; FGF6; -.
DR DMDM; 1169676; -.
DR MassIVE; P10767; -.
DR PaxDb; P10767; -.
DR PRIDE; P10767; -.
DR Antibodypedia; 41814; 193 antibodies from 22 providers.
DR DNASU; 2251; -.
DR Ensembl; ENST00000228837.3; ENSP00000228837.2; ENSG00000111241.3.
DR GeneID; 2251; -.
DR KEGG; hsa:2251; -.
DR MANE-Select; ENST00000228837.3; ENSP00000228837.2; NM_020996.3; NP_066276.2.
DR UCSC; uc001qmr.2; human.
DR CTD; 2251; -.
DR DisGeNET; 2251; -.
DR GeneCards; FGF6; -.
DR HGNC; HGNC:3684; FGF6.
DR HPA; ENSG00000111241; Group enriched (skeletal muscle, tongue).
DR MIM; 134921; gene.
DR neXtProt; NX_P10767; -.
DR OpenTargets; ENSG00000111241; -.
DR PharmGKB; PA28123; -.
DR VEuPathDB; HostDB:ENSG00000111241; -.
DR eggNOG; KOG3885; Eukaryota.
DR GeneTree; ENSGT00940000157821; -.
DR HOGENOM; CLU_081609_4_1_1; -.
DR InParanoid; P10767; -.
DR OMA; RISGAHN; -.
DR OrthoDB; 1183051at2759; -.
DR PhylomeDB; P10767; -.
DR TreeFam; TF317805; -.
DR PathwayCommons; P10767; -.
DR Reactome; R-HSA-109704; PI3K Cascade.
DR Reactome; R-HSA-1257604; PIP3 activates AKT signaling.
DR Reactome; R-HSA-1839122; Signaling by activated point mutants of FGFR1.
DR Reactome; R-HSA-190322; FGFR4 ligand binding and activation.
DR Reactome; R-HSA-190373; FGFR1c ligand binding and activation.
DR Reactome; R-HSA-190375; FGFR2c ligand binding and activation.
DR Reactome; R-HSA-2033519; Activated point mutants of FGFR2.
DR Reactome; R-HSA-2219530; Constitutive Signaling by Aberrant PI3K in Cancer.
DR Reactome; R-HSA-5654219; Phospholipase C-mediated cascade: FGFR1.
DR Reactome; R-HSA-5654221; Phospholipase C-mediated cascade, FGFR2.
DR Reactome; R-HSA-5654228; Phospholipase C-mediated cascade, FGFR4.
DR Reactome; R-HSA-5654687; Downstream signaling of activated FGFR1.
DR Reactome; R-HSA-5654688; SHC-mediated cascade:FGFR1.
DR Reactome; R-HSA-5654689; PI-3K cascade:FGFR1.
DR Reactome; R-HSA-5654693; FRS-mediated FGFR1 signaling.
DR Reactome; R-HSA-5654695; PI-3K cascade:FGFR2.
DR Reactome; R-HSA-5654699; SHC-mediated cascade:FGFR2.
DR Reactome; R-HSA-5654700; FRS-mediated FGFR2 signaling.
DR Reactome; R-HSA-5654712; FRS-mediated FGFR4 signaling.
DR Reactome; R-HSA-5654719; SHC-mediated cascade:FGFR4.
DR Reactome; R-HSA-5654720; PI-3K cascade:FGFR4.
DR Reactome; R-HSA-5654726; Negative regulation of FGFR1 signaling.
DR Reactome; R-HSA-5654727; Negative regulation of FGFR2 signaling.
DR Reactome; R-HSA-5654733; Negative regulation of FGFR4 signaling.
DR Reactome; R-HSA-5655253; Signaling by FGFR2 in disease.
DR Reactome; R-HSA-5655302; Signaling by FGFR1 in disease.
DR Reactome; R-HSA-5673001; RAF/MAP kinase cascade.
DR Reactome; R-HSA-6811558; PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling.
DR SignaLink; P10767; -.
DR SIGNOR; P10767; -.
DR BioGRID-ORCS; 2251; 14 hits in 1066 CRISPR screens.
DR GeneWiki; FGF6; -.
DR GenomeRNAi; 2251; -.
DR Pharos; P10767; Tbio.
DR PRO; PR:P10767; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; P10767; protein.
DR Bgee; ENSG00000111241; Expressed in hindlimb stylopod muscle and 54 other tissues.
DR ExpressionAtlas; P10767; baseline and differential.
DR Genevisible; P10767; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005576; C:extracellular region; TAS:Reactome.
DR GO; GO:0005615; C:extracellular space; IBA:GO_Central.
DR GO; GO:0042383; C:sarcolemma; IEA:Ensembl.
DR GO; GO:0005104; F:fibroblast growth factor receptor binding; IBA:GO_Central.
DR GO; GO:0008083; F:growth factor activity; IBA:GO_Central.
DR GO; GO:0001525; P:angiogenesis; IEA:UniProtKB-KW.
DR GO; GO:0009887; P:animal organ morphogenesis; IBA:GO_Central.
DR GO; GO:0001502; P:cartilage condensation; IEA:Ensembl.
DR GO; GO:0030154; P:cell differentiation; IBA:GO_Central.
DR GO; GO:0008543; P:fibroblast growth factor receptor signaling pathway; IGI:MGI.
DR GO; GO:0045445; P:myoblast differentiation; IEA:Ensembl.
DR GO; GO:0051781; P:positive regulation of cell division; IEA:UniProtKB-KW.
DR GO; GO:0008284; P:positive regulation of cell population proliferation; IGI:MGI.
DR GO; GO:0010628; P:positive regulation of gene expression; IBA:GO_Central.
DR GO; GO:0001934; P:positive regulation of protein phosphorylation; IBA:GO_Central.
DR GO; GO:0030334; P:regulation of cell migration; IBA:GO_Central.
DR CDD; cd00058; FGF; 1.
DR InterPro; IPR028242; FGF6.
DR InterPro; IPR002209; Fibroblast_GF_fam.
DR InterPro; IPR008996; IL1/FGF.
DR PANTHER; PTHR11486; PTHR11486; 1.
DR PANTHER; PTHR11486:SF25; PTHR11486:SF25; 1.
DR Pfam; PF00167; FGF; 1.
DR PRINTS; PR00263; HBGFFGF.
DR SMART; SM00442; FGF; 1.
DR SUPFAM; SSF50353; SSF50353; 1.
DR PROSITE; PS00247; HBGF_FGF; 1.
PE 1: Evidence at protein level;
KW Angiogenesis; Developmental protein; Differentiation; Disulfide bond;
KW Glycoprotein; Growth factor; Mitogen; Proto-oncogene; Reference proteome;
KW Secreted; Signal.
FT SIGNAL 1..37
FT /evidence="ECO:0000255"
FT CHAIN 38..208
FT /note="Fibroblast growth factor 6"
FT /id="PRO_0000008961"
FT CARBOHYD 45
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 90..157
FT /evidence="ECO:0000255"
FT VARIANT 36
FT /note="V -> A (in dbSNP:rs11613495)"
FT /evidence="ECO:0000269|Ref.2"
FT /id="VAR_018882"
FT VARIANT 63
FT /note="A -> V (in dbSNP:rs17183529)"
FT /evidence="ECO:0000269|Ref.2"
FT /id="VAR_018883"
FT VARIANT 174
FT /note="D -> V (in dbSNP:rs7961645)"
FT /evidence="ECO:0000269|Ref.2"
FT /id="VAR_018884"
FT VARIANT 191
FT /note="R -> W (in dbSNP:rs17183778)"
FT /evidence="ECO:0000269|Ref.2"
FT /id="VAR_018885"
FT CONFLICT 100
FT /note="V -> G (in Ref. 5; CAB37648)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 208 AA; 22905 MW; 79EF44685B324322 CRC64;
MALGQKLFIT MSRGAGRLQG TLWALVFLGI LVGMVVPSPA GTRANNTLLD SRGWGTLLSR
SRAGLAGEIA GVNWESGYLV GIKRQRRLYC NVGIGFHLQV LPDGRISGTH EENPYSLLEI
STVERGVVSL FGVRSALFVA MNSKGRLYAT PSFQEECKFR ETLLPNNYNA YESDLYQGTY
IALSKYGRVK RGSKVSPIMT VTHFLPRI
