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Fibroblast growth factor 8 (FGF-8) (Androgen-induced growth factor) (AIGF) (Heparin-binding growth factor 8) (HBGF-8)

 FGF8_HUMAN              Reviewed;         233 AA.
P55075; A1A514; Q14915; Q15766;
01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
01-OCT-1996, sequence version 1.
30-AUG-2017, entry version 163.
RecName: Full=Fibroblast growth factor 8;
Short=FGF-8;
AltName: Full=Androgen-induced growth factor;
Short=AIGF;
AltName: Full=Heparin-binding growth factor 8;
Short=HBGF-8;
Flags: Precursor;
Name=FGF8; Synonyms=AIGF;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM FGF-8A).
PubMed=7737407; DOI=10.1016/0014-5793(95)00324-3;
Tanaka A., Miyamoto K., Matsuo H., Matsumoto K., Yoshida H.;
"Human androgen-induced growth factor in prostate and breast cancer
cells: its molecular cloning and growth properties.";
FEBS Lett. 363:226-230(1995).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS FGF-8A; FGF-8B AND FGF-8E).
TISSUE=Prostate;
PubMed=8891346;
Ghosh A.K., Shankar D.B., Shackleford G.M., Wu K., T'Ang A.,
Miller G.J., Zheng J., Roy-Burman P.;
"Molecular cloning and characterization of human FGF8 alternative
messenger RNA forms.";
Cell Growth Differ. 7:1425-1434(1996).
[3]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND ALTERNATIVE SPLICING (ISOFORMS
FGF-8B; FGF-8E AND FGF-8F).
TISSUE=Placenta;
PubMed=8661131; DOI=10.1006/geno.1996.0349;
Gemel J., Gorry M., Ehrlich G.D., Macarthur C.A.;
"Structure and sequence of human FGF8.";
Genomics 35:253-257(1996).
[4]
NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS FGF-8A AND FGF-8F).
PubMed=8700553;
Payson R.A., Wu J., Liu Y., Chiu I.-M.;
"The human FGF-8 gene localizes on chromosome 10q24 and is subjected
to induction by androgen in breast cancer cells.";
Oncogene 13:47-53(1996).
[5]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM FGF-8F).
TISSUE=Esophageal carcinoma;
PubMed=11341643; DOI=10.1023/A:1010753826788;
Tanaka S., Ueo H., Mafune K., Mori M., Wands J.R., Sugimachi K.;
"A novel isoform of human fibroblast growth factor 8 is induced by
androgens and associated with progression of esophageal carcinoma.";
Dig. Dis. Sci. 46:1016-1021(2001).
[6]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND ALTERNATIVE SPLICING (ISOFORM
FGF-8F).
NIEHS SNPs program;
Submitted (JUN-2002) to the EMBL/GenBank/DDBJ databases.
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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., 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.
[8]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM FGF-8A).
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[9]
INTERACTION WITH FGFR3 AND FGFR4, AND FUNCTION IN CELL PROLIFERATION.
PubMed=8663044; DOI=10.1074/jbc.271.25.15292;
Ornitz D.M., Xu J., Colvin J.S., McEwen D.G., MacArthur C.A.,
Coulier F., Gao G., Goldfarb M.;
"Receptor specificity of the fibroblast growth factor family.";
J. Biol. Chem. 271:15292-15297(1996).
[10]
INTERACTION WITH FGFR1; FGFR2; FGFR3 AND FGFR4, AND FUNCTION IN
STIMULATION OF CELL PROLIFERATION.
PubMed=16597617; DOI=10.1074/jbc.M601252200;
Zhang X., Ibrahimi O.A., Olsen S.K., Umemori H., Mohammadi M.,
Ornitz D.M.;
"Receptor specificity of the fibroblast growth factor family. The
complete mammalian FGF family.";
J. Biol. Chem. 281:15694-15700(2006).
[11]
REVIEW.
PubMed=20094046; DOI=10.1038/nrc2780;
Turner N., Grose R.;
"Fibroblast growth factor signalling: from development to cancer.";
Nat. Rev. Cancer 10:116-129(2010).
[12]
FUNCTION.
PubMed=21576111; DOI=10.1093/brain/awr084;
Vantaggiato C., Bondioni S., Airoldi G., Bozzato A., Borsani G.,
Rugarli E.I., Bresolin N., Clementi E., Bassi M.T.;
"Senataxin modulates neurite growth through fibroblast growth factor 8
signalling.";
Brain 134:1808-1828(2011).
[13]
X-RAY CRYSTALLOGRAPHY (2.28 ANGSTROMS) OF 52-204 IN COMPLEX WITH
FGFR2, AND FUNCTION.
PubMed=16384934; DOI=10.1101/gad.1365406;
Olsen S.K., Li J.Y.H., Bromleigh C., Eliseenkova A.V., Ibrahimi O.A.,
Lao Z., Zhang F., Linhardt R.J., Joyner A.L., Mohammadi M.;
"Structural basis by which alternative splicing modulates the
organizer activity of FGF8 in the brain.";
Genes Dev. 20:185-198(2006).
[14]
VARIANTS HH6 ASN-14; LEU-26; LEU-40; GLU-89; GLY-116 AND MET-218.
PubMed=18596921; DOI=10.1172/JCI34538;
Falardeau J., Chung W.C.J., Beenken A., Raivio T., Plummer L.,
Sidis Y., Jacobson-Dickman E.E., Eliseenkova A.V., Ma J., Dwyer A.,
Quinton R., Na S., Hall J.E., Huot C., Alois N., Pearce S.H.,
Cole L.W., Hughes V., Mohammadi M., Tsai P., Pitteloud N.;
"Decreased FGF8 signaling causes deficiency of gonadotropin-releasing
hormone in humans and mice.";
J. Clin. Invest. 118:2822-2831(2008).
[15]
VARIANTS HH6 LEU-40 AND GLU-89.
PubMed=23643382; DOI=10.1016/j.ajhg.2013.04.008;
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., 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.;
"Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in
individuals with congenital hypogonadotropic hypogonadism.";
Am. J. Hum. Genet. 92:725-743(2013).
-!- FUNCTION: Plays an important role in the regulation of embryonic
development, cell proliferation, cell differentiation and cell
migration. Required for normal brain, eye, ear and limb
development during embryogenesis. Required for normal development
of the gonadotropin-releasing hormone (GnRH) neuronal system
(PubMed:16384934, PubMed:16597617, PubMed:8663044). Plays a role
in neurite outgrowth in hippocampal cells (PubMed:21576111).
{ECO:0000269|PubMed:16384934, ECO:0000269|PubMed:16597617,
ECO:0000269|PubMed:21576111, ECO:0000269|PubMed:8663044}.
-!- SUBUNIT: Monomer. Homodimer. Interacts with FGFR1, FGFR2, FGFR3
and FGFR4. Affinity between fibroblast growth factors (FGFs) and
their receptors is increased by heparan sulfate glycosaminoglycans
that function as coreceptors. {ECO:0000269|PubMed:16384934,
ECO:0000269|PubMed:16597617, ECO:0000269|PubMed:8663044}.
-!- SUBCELLULAR LOCATION: Secreted.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=4;
Comment=Additional isoforms seem to exist.;
Name=FGF-8E;
IsoId=P55075-1; Sequence=Displayed;
Name=FGF-8A;
IsoId=P55075-2; Sequence=VSP_001525;
Name=FGF-8B;
IsoId=P55075-3; Sequence=VSP_001524;
Name=FGF-8F;
IsoId=P55075-4; Sequence=VSP_001526;
-!- DEVELOPMENTAL STAGE: In adults expression is restricted to the
gonads.
-!- DISEASE: Hypogonadotropic hypogonadism 6 with or without anosmia
(HH6) [MIM:612702]: 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).
{ECO:0000269|PubMed:18596921, ECO:0000269|PubMed:23643382}.
Note=The disease is caused by mutations affecting distinct genetic
loci, including the gene represented in this entry. The genetics
of hypogonadotropic hypogonadism involves various modes of
transmission. Oligogenic inheritance has been reported in some
patients carrying mutations in FGF8 as well as in other HH-
associated genes including FGFR1 (PubMed:23643382).
{ECO:0000269|PubMed:23643382}.
-!- SIMILARITY: Belongs to the heparin-binding growth factors family.
{ECO:0000305}.
-!- WEB RESOURCE: Name=NIEHS-SNPs;
URL="http://egp.gs.washington.edu/data/fgf8/";
-!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology
and Haematology;
URL="http://atlasgeneticsoncology.org/Genes/FGF8ID40566ch10q24.html";
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EMBL; S78466; AAB34255.1; -; Genomic_DNA.
EMBL; S78462; AAB34255.1; JOINED; Genomic_DNA.
EMBL; S78463; AAB34255.1; JOINED; Genomic_DNA.
EMBL; S78464; AAB34255.1; JOINED; Genomic_DNA.
EMBL; S78465; AAB34255.1; JOINED; Genomic_DNA.
EMBL; D38752; BAA22527.1; -; Genomic_DNA.
EMBL; U46213; AAB40955.1; -; mRNA.
EMBL; U46212; AAB40954.1; -; mRNA.
EMBL; U46211; AAB40953.1; -; mRNA.
EMBL; U47011; AAC50784.1; -; Genomic_DNA.
EMBL; U47009; AAC50784.1; JOINED; Genomic_DNA.
EMBL; U47010; AAC50784.1; JOINED; Genomic_DNA.
EMBL; U47011; AAC50785.1; -; Genomic_DNA.
EMBL; U47009; AAC50785.1; JOINED; Genomic_DNA.
EMBL; U47010; AAC50785.1; JOINED; Genomic_DNA.
EMBL; U47011; AAC50782.1; -; Genomic_DNA.
EMBL; U47009; AAC50782.1; JOINED; Genomic_DNA.
EMBL; U47010; AAC50782.1; JOINED; Genomic_DNA.
EMBL; U36223; AAB17893.1; -; mRNA.
EMBL; U36228; AAB17894.1; -; Genomic_DNA.
EMBL; U36225; AAB17894.1; JOINED; Genomic_DNA.
EMBL; U36226; AAB17894.1; JOINED; Genomic_DNA.
EMBL; U36227; AAB17894.1; JOINED; Genomic_DNA.
EMBL; U47011; AAC50783.1; -; Genomic_DNA.
EMBL; U47009; AAC50783.1; JOINED; Genomic_DNA.
EMBL; U47010; AAC50783.1; JOINED; Genomic_DNA.
EMBL; U56978; AAB03787.1; -; mRNA.
EMBL; AB014615; BAA28605.1; -; mRNA.
EMBL; AF520763; AAM55238.1; -; Genomic_DNA.
EMBL; CH471066; EAW49746.1; -; Genomic_DNA.
EMBL; BC128235; AAI28236.1; -; mRNA.
CCDS; CCDS7515.1; -. [P55075-3]
CCDS; CCDS7516.1; -. [P55075-4]
CCDS; CCDS7517.1; -. [P55075-1]
CCDS; CCDS7518.1; -. [P55075-2]
RefSeq; NP_006110.1; NM_006119.4. [P55075-3]
RefSeq; NP_149353.1; NM_033163.3. [P55075-4]
RefSeq; NP_149354.1; NM_033164.3. [P55075-1]
RefSeq; NP_149355.1; NM_033165.3. [P55075-2]
UniGene; Hs.57710; -.
PDB; 2FDB; X-ray; 2.28 A; M/N=52-204.
PDBsum; 2FDB; -.
ProteinModelPortal; P55075; -.
SMR; P55075; -.
BioGrid; 108544; 124.
DIP; DIP-59630N; -.
IntAct; P55075; 2.
STRING; 9606.ENSP00000321797; -.
iPTMnet; P55075; -.
PhosphoSitePlus; P55075; -.
BioMuta; FGF8; -.
DMDM; 1706791; -.
PaxDb; P55075; -.
PeptideAtlas; P55075; -.
PRIDE; P55075; -.
Ensembl; ENST00000320185; ENSP00000321797; ENSG00000107831. [P55075-4]
Ensembl; ENST00000344255; ENSP00000340039; ENSG00000107831. [P55075-1]
Ensembl; ENST00000346714; ENSP00000344306; ENSG00000107831. [P55075-2]
Ensembl; ENST00000347978; ENSP00000321945; ENSG00000107831. [P55075-3]
GeneID; 2253; -.
KEGG; hsa:2253; -.
UCSC; uc001ktp.3; human. [P55075-1]
CTD; 2253; -.
DisGeNET; 2253; -.
GeneCards; FGF8; -.
GeneReviews; FGF8; -.
HGNC; HGNC:3686; FGF8.
MalaCards; FGF8; -.
MIM; 600483; gene.
MIM; 612702; phenotype.
neXtProt; NX_P55075; -.
OpenTargets; ENSG00000107831; -.
Orphanet; 93925; Alobar holoprosencephaly.
Orphanet; 478; Kallmann syndrome.
Orphanet; 93924; Lobar holoprosencephaly.
Orphanet; 280200; Microform holoprosencephaly.
Orphanet; 93926; Midline interhemispheric variant of holoprosencephaly.
Orphanet; 432; Normosmic congenital hypogonadotropic hypogonadism.
Orphanet; 220386; Semilobar holoprosencephaly.
Orphanet; 280195; Septopreoptic holoprosencephaly.
PharmGKB; PA28125; -.
eggNOG; KOG3885; Eukaryota.
eggNOG; ENOG4111IPH; LUCA.
GeneTree; ENSGT00730000110785; -.
HOGENOM; HOG000115986; -.
HOVERGEN; HBG005659; -.
InParanoid; P55075; -.
KO; K04358; -.
OMA; CYYAQVT; -.
OrthoDB; EOG091G0NQH; -.
PhylomeDB; P55075; -.
TreeFam; TF331233; -.
Reactome; R-HSA-109704; PI3K Cascade.
Reactome; R-HSA-1257604; PIP3 activates AKT signaling.
Reactome; R-HSA-1839122; Signaling by activated point mutants of FGFR1.
Reactome; R-HSA-1839130; Signaling by activated point mutants of FGFR3.
Reactome; R-HSA-190322; FGFR4 ligand binding and activation.
Reactome; R-HSA-190371; FGFR3b ligand binding and activation.
Reactome; R-HSA-190372; FGFR3c ligand binding and activation.
Reactome; R-HSA-190373; FGFR1c ligand binding and activation.
Reactome; R-HSA-190375; FGFR2c ligand binding and activation.
Reactome; R-HSA-2033514; FGFR3 mutant receptor activation.
Reactome; R-HSA-2033519; Activated point mutants of FGFR2.
Reactome; R-HSA-2219530; Constitutive Signaling by Aberrant PI3K in Cancer.
Reactome; R-HSA-5654219; Phospholipase C-mediated cascade: FGFR1.
Reactome; R-HSA-5654221; Phospholipase C-mediated cascade, FGFR2.
Reactome; R-HSA-5654227; Phospholipase C-mediated cascade, FGFR3.
Reactome; R-HSA-5654228; Phospholipase C-mediated cascade, FGFR4.
Reactome; R-HSA-5654687; Downstream signaling of activated FGFR1.
Reactome; R-HSA-5654688; SHC-mediated cascade:FGFR1.
Reactome; R-HSA-5654689; PI-3K cascade:FGFR1.
Reactome; R-HSA-5654693; FRS-mediated FGFR1 signaling.
Reactome; R-HSA-5654695; PI-3K cascade:FGFR2.
Reactome; R-HSA-5654699; SHC-mediated cascade:FGFR2.
Reactome; R-HSA-5654700; FRS-mediated FGFR2 signaling.
Reactome; R-HSA-5654704; SHC-mediated cascade:FGFR3.
Reactome; R-HSA-5654706; FRS-mediated FGFR3 signaling.
Reactome; R-HSA-5654710; PI-3K cascade:FGFR3.
Reactome; R-HSA-5654712; FRS-mediated FGFR4 signaling.
Reactome; R-HSA-5654719; SHC-mediated cascade:FGFR4.
Reactome; R-HSA-5654720; PI-3K cascade:FGFR4.
Reactome; R-HSA-5654726; Negative regulation of FGFR1 signaling.
Reactome; R-HSA-5654727; Negative regulation of FGFR2 signaling.
Reactome; R-HSA-5654732; Negative regulation of FGFR3 signaling.
Reactome; R-HSA-5654733; Negative regulation of FGFR4 signaling.
Reactome; R-HSA-5655253; Signaling by FGFR2 in disease.
Reactome; R-HSA-5655302; Signaling by FGFR1 in disease.
Reactome; R-HSA-5658623; FGFRL1 modulation of FGFR1 signaling.
Reactome; R-HSA-5673001; RAF/MAP kinase cascade.
Reactome; R-HSA-6811558; PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling.
Reactome; R-HSA-8853338; Signaling by FGFR3 point mutants in cancer.
SignaLink; P55075; -.
SIGNOR; P55075; -.
EvolutionaryTrace; P55075; -.
GeneWiki; FGF8; -.
GenomeRNAi; 2253; -.
PRO; PR:P55075; -.
Proteomes; UP000005640; Chromosome 10.
Bgee; ENSG00000107831; -.
CleanEx; HS_FGF8; -.
ExpressionAtlas; P55075; baseline and differential.
Genevisible; P55075; HS.
GO; GO:0009897; C:external side of plasma membrane; IEA:Ensembl.
GO; GO:0005576; C:extracellular region; TAS:Reactome.
GO; GO:0005615; C:extracellular space; IDA:UniProtKB.
GO; GO:0005622; C:intracellular; IEA:GOC.
GO; GO:0016303; F:1-phosphatidylinositol-3-kinase activity; TAS:Reactome.
GO; GO:0042056; F:chemoattractant activity; IEA:Ensembl.
GO; GO:0005104; F:fibroblast growth factor receptor binding; IEA:InterPro.
GO; GO:0008083; F:growth factor activity; IDA:UniProtKB.
GO; GO:0046934; F:phosphatidylinositol-4,5-bisphosphate 3-kinase activity; TAS:Reactome.
GO; GO:0004713; F:protein tyrosine kinase activity; TAS:Reactome.
GO; GO:0005088; F:Ras guanyl-nucleotide exchange factor activity; TAS:Reactome.
GO; GO:0005105; F:type 1 fibroblast growth factor receptor binding; IDA:UniProtKB.
GO; GO:0005111; F:type 2 fibroblast growth factor receptor binding; IDA:UniProtKB.
GO; GO:0009653; P:anatomical structure morphogenesis; NAS:UniProtKB.
GO; GO:0035909; P:aorta morphogenesis; IEA:Ensembl.
GO; GO:0006915; P:apoptotic process; IEA:Ensembl.
GO; GO:0001974; P:blood vessel remodeling; IEA:Ensembl.
GO; GO:0030509; P:BMP signaling pathway; IEA:Ensembl.
GO; GO:0060348; P:bone development; IMP:UniProtKB.
GO; GO:0001569; P:branching involved in blood vessel morphogenesis; IEA:Ensembl.
GO; GO:0060445; P:branching involved in salivary gland morphogenesis; IEA:Ensembl.
GO; GO:0001658; P:branching involved in ureteric bud morphogenesis; IEA:Ensembl.
GO; GO:0060070; P:canonical Wnt signaling pathway; IEA:Ensembl.
GO; GO:0045165; P:cell fate commitment; IEA:Ensembl.
GO; GO:0090134; P:cell migration involved in mesendoderm migration; IEA:Ensembl.
GO; GO:0021846; P:cell proliferation in forebrain; IEA:Ensembl.
GO; GO:0060128; P:corticotropin hormone secreting cell differentiation; IEA:Ensembl.
GO; GO:0071542; P:dopaminergic neuron differentiation; IDA:UniProtKB.
GO; GO:0033563; P:dorsal/ventral axon guidance; IEA:Ensembl.
GO; GO:0035116; P:embryonic hindlimb morphogenesis; IEA:Ensembl.
GO; GO:0003198; P:epithelial to mesenchymal transition involved in endocardial cushion formation; ISS:BHF-UCL.
GO; GO:0008543; P:fibroblast growth factor receptor signaling pathway; IGI:MGI.
GO; GO:0021798; P:forebrain dorsal/ventral pattern formation; IEA:Ensembl.
GO; GO:0048853; P:forebrain morphogenesis; IEA:Ensembl.
GO; GO:0021884; P:forebrain neuron development; IEA:Ensembl.
GO; GO:0007369; P:gastrulation; NAS:UniProtKB.
GO; GO:0008406; P:gonad development; IMP:UniProtKB.
GO; GO:0001947; P:heart looping; IEA:Ensembl.
GO; GO:0060425; P:lung morphogenesis; IEA:Ensembl.
GO; GO:0030539; P:male genitalia development; IEA:Ensembl.
GO; GO:0000165; P:MAPK cascade; TAS:Reactome.
GO; GO:0008078; P:mesodermal cell migration; IEA:Ensembl.
GO; GO:0001823; P:mesonephros development; IEP:UniProtKB.
GO; GO:0001656; P:metanephros development; IEP:UniProtKB.
GO; GO:0030917; P:midbrain-hindbrain boundary development; IEA:Ensembl.
GO; GO:0008045; P:motor neuron axon guidance; IEA:Ensembl.
GO; GO:0055026; P:negative regulation of cardiac muscle tissue development; IMP:BHF-UCL.
GO; GO:0043524; P:negative regulation of neuron apoptotic process; IEA:Ensembl.
GO; GO:0001839; P:neural plate morphogenesis; IEA:Ensembl.
GO; GO:0060563; P:neuroepithelial cell differentiation; IDA:UniProtKB.
GO; GO:0042476; P:odontogenesis; IEP:UniProtKB.
GO; GO:0001759; P:organ induction; IEA:Ensembl.
GO; GO:0030916; P:otic vesicle formation; IEA:Ensembl.
GO; GO:0003148; P:outflow tract septum morphogenesis; ISS:UniProtKB.
GO; GO:0021543; P:pallium development; IEA:Ensembl.
GO; GO:0060037; P:pharyngeal system development; IEA:Ensembl.
GO; GO:0048015; P:phosphatidylinositol-mediated signaling; TAS:Reactome.
GO; GO:0045597; P:positive regulation of cell differentiation; TAS:ParkinsonsUK-UCL.
GO; GO:0051781; P:positive regulation of cell division; IEA:UniProtKB-KW.
GO; GO:0008284; P:positive regulation of cell proliferation; IDA:UniProtKB.
GO; GO:0070374; P:positive regulation of ERK1 and ERK2 cascade; IEA:Ensembl.
GO; GO:0010628; P:positive regulation of gene expression; TAS:ParkinsonsUK-UCL.
GO; GO:0045840; P:positive regulation of mitotic nuclear division; IEA:Ensembl.
GO; GO:0046622; P:positive regulation of organ growth; IEA:Ensembl.
GO; GO:0042487; P:regulation of odontogenesis of dentin-containing tooth; IEA:Ensembl.
GO; GO:0014066; P:regulation of phosphatidylinositol 3-kinase signaling; TAS:Reactome.
GO; GO:0042493; P:response to drug; IEA:Ensembl.
GO; GO:0014070; P:response to organic cyclic compound; IEA:Ensembl.
GO; GO:0006979; P:response to oxidative stress; IEA:Ensembl.
GO; GO:0023019; P:signal transduction involved in regulation of gene expression; IEA:Ensembl.
GO; GO:0021544; P:subpallium development; IEA:Ensembl.
GO; GO:0030878; P:thyroid gland development; IEA:Ensembl.
GO; GO:0060129; P:thyroid-stimulating hormone-secreting cell differentiation; IEA:Ensembl.
CDD; cd00058; FGF; 1.
InterPro; IPR028249; FGF8.
InterPro; IPR002209; Fibroblast_GF_fam.
InterPro; IPR008996; IL1/FGF.
PANTHER; PTHR11486; PTHR11486; 1.
PANTHER; PTHR11486:SF104; PTHR11486:SF104; 1.
Pfam; PF00167; FGF; 1.
SMART; SM00442; FGF; 1.
SUPFAM; SSF50353; SSF50353; 1.
PROSITE; PS00247; HBGF_FGF; 1.
1: Evidence at protein level;
3D-structure; Alternative splicing; Complete proteome;
Developmental protein; Differentiation; Disease mutation;
Glycoprotein; Growth factor; Hypogonadotropic hypogonadism;
Kallmann syndrome; Mitogen; Reference proteome; Secreted; Signal.
SIGNAL 1 22 {ECO:0000255}.
CHAIN 23 233 Fibroblast growth factor 8.
/FTId=PRO_0000008970.
CARBOHYD 155 155 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
VAR_SEQ 24 52 Missing (in isoform FGF-8A).
{ECO:0000303|PubMed:15489334,
ECO:0000303|PubMed:8700553,
ECO:0000303|PubMed:8891346}.
/FTId=VSP_001525.
VAR_SEQ 24 51 EGPGRGPALGRELASLFRAGREPQGVSQ -> VTVQSSPNF
T (in isoform FGF-8B).
{ECO:0000303|PubMed:8891346}.
/FTId=VSP_001524.
VAR_SEQ 52 52 Q -> QVTVQSSPNFTQ (in isoform FGF-8F).
{ECO:0000303|PubMed:11341643,
ECO:0000303|PubMed:8700553}.
/FTId=VSP_001526.
VARIANT 14 14 H -> N (in HH6; phenotype consistent with
normosmic idiopathic hypogonadotropic
hypogonadism; dbSNP:rs137852659).
{ECO:0000269|PubMed:18596921}.
/FTId=VAR_057962.
VARIANT 26 26 P -> L (in HH6; phenotype consistent with
Kallmann syndrome; dbSNP:rs137852660).
{ECO:0000269|PubMed:18596921}.
/FTId=VAR_057963.
VARIANT 40 40 F -> L (in HH6; phenotype consistent with
normosmic idiopathic hypogonadotropic
hypogonadism; some patients also carry
mutations in FGFR1; dbSNP:rs137852661).
{ECO:0000269|PubMed:18596921,
ECO:0000269|PubMed:23643382}.
/FTId=VAR_057964.
VARIANT 89 89 K -> E (in HH6; phenotype consistent with
normosmic idiopathic hypogonadotropic
hypogonadism; some patients also carry
mutations in FGFR1; dbSNP:rs137852662).
{ECO:0000269|PubMed:18596921,
ECO:0000269|PubMed:23643382}.
/FTId=VAR_057965.
VARIANT 116 116 R -> G (in HH6; phenotype consistent with
Kallmann syndrome; dbSNP:rs137852663).
{ECO:0000269|PubMed:18596921}.
/FTId=VAR_057966.
VARIANT 218 218 T -> M (in HH6; phenotype consistent with
normosmic idiopathic hypogonadotropic
hypogonadism; dbSNP:rs137852664).
{ECO:0000269|PubMed:18596921}.
/FTId=VAR_057967.
HELIX 52 57 {ECO:0000244|PDB:2FDB}.
STRAND 63 65 {ECO:0000244|PDB:2FDB}.
STRAND 69 76 {ECO:0000244|PDB:2FDB}.
TURN 77 79 {ECO:0000244|PDB:2FDB}.
STRAND 80 85 {ECO:0000244|PDB:2FDB}.
STRAND 91 95 {ECO:0000244|PDB:2FDB}.
HELIX 100 102 {ECO:0000244|PDB:2FDB}.
STRAND 104 110 {ECO:0000244|PDB:2FDB}.
TURN 111 113 {ECO:0000244|PDB:2FDB}.
STRAND 114 119 {ECO:0000244|PDB:2FDB}.
TURN 120 122 {ECO:0000244|PDB:2FDB}.
STRAND 125 128 {ECO:0000244|PDB:2FDB}.
STRAND 134 138 {ECO:0000244|PDB:2FDB}.
HELIX 143 145 {ECO:0000244|PDB:2FDB}.
STRAND 146 151 {ECO:0000244|PDB:2FDB}.
STRAND 157 164 {ECO:0000244|PDB:2FDB}.
HELIX 180 182 {ECO:0000244|PDB:2FDB}.
HELIX 188 190 {ECO:0000244|PDB:2FDB}.
STRAND 192 195 {ECO:0000244|PDB:2FDB}.
SEQUENCE 233 AA; 26525 MW; 4C1EAF932A3A211D CRC64;
MGSPRSALSC LLLHLLVLCL QAQEGPGRGP ALGRELASLF RAGREPQGVS QQHVREQSLV
TDQLSRRLIR TYQLYSRTSG KHVQVLANKR INAMAEDGDP FAKLIVETDT FGSRVRVRGA
ETGLYICMNK KGKLIAKSNG KGKDCVFTEI VLENNYTALQ NAKYEGWYMA FTRKGRPRKG
SKTRQHQREV HFMKRLPRGH HTTEQSLRFE FLNYPPFTRS LRGSQRTWAP EPR


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