[1]	NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM FGF-8A). DOI=10.1016/0014-5793(95)00324-3; PubMed=7737407 [NCBI, ExPASy, EBI, Israel, Japan] 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 [NCBI, ExPASy, EBI, Israel, Japan] 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; DOI=10.1006/geno.1996.0349; PubMed=8661131 [NCBI, ExPASy, EBI, Israel, Japan] 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 [NCBI, ExPASy, EBI, Israel, Japan] 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=Oesophageal carcinoma; DOI=10.1023/A:1010753826788; PubMed=11341643 [NCBI, ExPASy, EBI, Israel, Japan] 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]	VARIANTS KAL6 LEU-26 AND GLY-116, AND VARIANTS IHH ASN-14; LEU-40; GLU-89 AND MET-218. DOI=10.1172/JCI34538; PubMed=18596921 [NCBI, ExPASy, EBI, Israel, Japan] 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).

Comments

FUNCTION: Stimulates growth of the cells in an autocrine manner. Mediates hormonal action on the growth of cancer cells.
SUBCELLULAR LOCATION: Secreted.

ALTERNATIVE PRODUCTS: 4 named isoforms [FASTA] produced by alternative splicing. Additional isoforms seem to exist.

Name	FGF-8E
Isoform ID	P55075-1
This is the isoform sequence displayed in this entry.

Name	FGF-8A
Isoform ID	P55075-2
Features which should be applied to build the isoform sequence: VSP_001525.

Name	FGF-8B
Isoform ID	P55075-3
Features which should be applied to build the isoform sequence: VSP_001524.

Name	FGF-8F
Isoform ID	P55075-4
Features which should be applied to build the isoform sequence: VSP_001526.

DEVELOPMENTAL STAGE: In adults expression is restricted to the gonads.
DISEASE: Defects in FGF8 are the cause of Kallmann syndrome type 6 (KAL6) [MIM:612702]. Kallmann syndrome is a disorder that associates hypogonadotropic hypogonadism and anosmia. 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 some patients other developmental anomalies can be present, which include renal agenesis, cleft lip and/or palate, selective tooth agenesis, and bimanual synkinesis. In some cases anosmia may be absent or inconspicuous.
DISEASE: Defects in FGF8 are a cause of idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]. IHH is defined as a deficiency of the pituitary secretion of follicle-stimulating hormone and luteinizing hormone, which results in the impairment of pubertal maturation and of reproductive function.
SIMILARITY: Belongs to the heparin-binding growth factors family.
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/fgf8/";.

Copyright

Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.

Cross-references

Sequence databases

EMBL

S78466; AAB34255.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
S78462; AAB34255.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
S78463; AAB34255.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
S78464; AAB34255.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
S78465; AAB34255.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
D38752; BAA22527.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
U46213; AAB40955.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
U46212; AAB40954.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
U46211; AAB40953.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
U47011; AAC50784.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
U47009; AAC50784.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
U47010; AAC50784.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
U47011; AAC50785.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
U47009; AAC50785.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
U47010; AAC50785.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
U47011; AAC50782.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
U47009; AAC50782.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
U47010; AAC50782.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
U36223; AAB17893.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
U36228; AAB17894.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
U36225; AAB17894.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
U36226; AAB17894.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
U36227; AAB17894.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
U47011; AAC50783.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
U47009; AAC50783.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
U47010; AAC50783.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
U56978; AAB03787.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AB014615; BAA28605.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AF520763; AAM55238.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]

IPI

IPI00183471; -.
IPI00218332; -.
IPI00218333; -.
IPI00219933; -.

RefSeq

NP_149354.1; -.

UniGene

Hs.57710

3D structure databases

PDB

2FDB; X-ray; 2.28 A; M/N=52-204.

[ExPASy / RCSB / EBI]

PDBsum

2FDB; -.

ModBase

P55075.

Enzyme and pathway databases

Pathway_Interaction_DB

fgf_pathway; FGF signaling pathway.

Reactome

REACT_9470; Signaling by FGFR.

Organism-specific databases

GC10M103519; -.

HIX0035300; -.

HGNC:3686; FGF8.

146110; phenotype. [NCBI / EBI]
600483; gene. [NCBI / EBI]
612702; phenotype. [NCBI / EBI]

Orphanet

478; Kallmann syndrome.

PharmGKB

PA28125; -.

Gene expression databases

P55075; -.

P55075; -.

HS_FGF8; -.

ENSG00000107831; Homo sapiens.

Ontologies

GO:0005576;	Cellular component: extracellular region (inferred from experiment from Reactome).
GO:0008083;	Molecular function: growth factor activity (non-traceable author statement from UniProtKB).
GO:0008283;	Biological process: cell proliferation (non-traceable author statement from UniProtKB).
GO:0008543;	Biological process: fibroblast growth factor receptor signaling pathway (inferred from experiment from Reactome).
GO:0007369;	Biological process: gastrulation (traceable author statement from ProtInc).
QuickGo view.

Family and domain databases

InterPro

IPR002348; IL1_HBGF.
Graphical view of domain structure.

PANTHER

PTHR11486; IL1_HBGF; 1.

Pfam

PF00167; FGF; 1.
Pfam graphical view of domain structure.

PRINTS

PR00262; IL1HBGF.

ProDom

PD000831; IL1_HBGF; 1.
[Domain structure / List of seq. sharing at least 1 domain]

SMART

SM00442; FGF; 1.
SMART graphical view of domain structure.

PROSITE

PS00247; HBGF_FGF; 1.

Proteomic databases

PRIDE

P55075; -.

Genome annotation databases

Ensembl

ENSG00000107831; Homo sapiens. [Contig view]

GeneID

2253; -.

Phylogenomic databases

HOVERGEN

P55075; -.

OMA

P55075; GQGHEDR.

Other

9121; -.

FGF8; Homo sapiens.

View cluster of proteins with at least 50% / 90% / 100% identity.

Keywords

3D-structure; Alternative splicing; Disease mutation; Glycoprotein; Growth factor; Hypogonadotropic hypogonadism; Kallmann syndrome; Mitogen; Secreted; Signal.

Features

Feature table viewer

`Key`	`From To`	`Length`	`Description`	`FTId`
`SIGNAL`	`1 22`	`22`	`Potential.`
`CHAIN`	`23 233`	`211`	`Fibroblast growth factor 8.`	`PRO_0000008970`
`CARBOHYD`	`155 155`		`N-linked (GlcNAc...) (Potential).`
`VAR_SEQ`	`24 52`		`Missing (in isoform FGF-8A).`	`VSP_001525`
`VAR_SEQ`	`24 51`		`EGPGRGPALGRELASLFRAGREPQGVSQ -> VTVQSSPNFT (in isoform FGF-8B).`	`VSP_001524`
`VAR_SEQ`	`52 52`		`Q -> QVTVQSSPNFTQ (in isoform FGF-8F).`	`VSP_001526`
`VARIANT`	`14 14`	`1`	`H -> N (in IHH).`	`VAR_057962`
`VARIANT`	`26 26`	`1`	`P -> L (in KAL6).`	`VAR_057963`
`VARIANT`	`40 40`	`1`	`F -> L (in IHH).`	`VAR_057964`
`VARIANT`	`89 89`	`1`	`K -> E (in IHH).`	`VAR_057965`
`VARIANT`	`116 116`	`1`	`R -> G (in KAL6).`	`VAR_057966`
`VARIANT`	`218 218`	`1`	`T -> M (in IHH).`	`VAR_057967`
`HELIX`	`52 57`	`6`
`STRAND`	`63 65`	`3`
`STRAND`	`69 76`	`8`
`TURN`	`77 79`	`3`
`STRAND`	`80 85`	`6`
`STRAND`	`91 95`	`5`
`HELIX`	`100 102`	`3`
`STRAND`	`104 110`	`7`
`TURN`	`111 113`	`3`
`STRAND`	`114 119`	`6`
`TURN`	`120 122`	`3`
`STRAND`	`125 128`	`4`
`STRAND`	`134 138`	`5`
`HELIX`	`143 145`	`3`
`STRAND`	`146 151`	`6`
`STRAND`	`157 164`	`8`
`HELIX`	`180 182`	`3`
`HELIX`	`188 190`	`3`
`STRAND`	`192 195`	`4`

Sequence information

Length: 233 AA [This is the length of the unprocessed precursor]

Molecular weight: 26525 Da [This is the MW of the unprocessed precursor]

CRC64: 4C1EAF932A3A211D [This is a checksum on the sequence]

        10         20         30         40         50         60 
MGSPRSALSC LLLHLLVLCL QAQEGPGRGP ALGRELASLF RAGREPQGVS QQHVREQSLV 

        70         80         90        100        110        120 
TDQLSRRLIR TYQLYSRTSG KHVQVLANKR INAMAEDGDP FAKLIVETDT FGSRVRVRGA 

       130        140        150        160        170        180 
ETGLYICMNK KGKLIAKSNG KGKDCVFTEI VLENNYTALQ NAKYEGWYMA FTRKGRPRKG 

       190        200        210        220        230 
SKTRQHQREV HFMKRLPRGH HTTEQSLRFE FLNYPPFTRS LRGSQRTWAP EPR

P55075 in FASTA format

View entry in raw text format (no links)
Report form for errors/updates in this UniProtKB/Swiss-Prot entry

	BLAST submission on ExPASy/SIB or at NCBI (USA)		Sequence analysis tools: ProtParam, ProtScale, Compute pI/Mw, PeptideMass, PeptideCutter, Dotlet (Java)
	ScanProsite, MotifScan		Submit a homology modeling request to SWISS-MODEL
	NPSA Sequence analysis tools