Fibroblast growth factor 8 precursor

Contribute

Send feedback

Read comments (0) or add your own

Reviewed, UniProtKB/Swiss-Prot P55075 (FGF8_HUMAN)

Last modified June 16, 2009. Version 82. History...

Clusters with 100%, 90%, 50% identity |

Documents (6) |

Third-party data |

Customize display

text xml rdf/xml gff fasta

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Hide | Top

Names and origin

Protein names

Recommended name:
    Fibroblast growth factor 8
      Short name=FGF-8
Alternative name(s):
    Heparin-binding growth factor 8
      Short name=HBGF-8
    Androgen-induced growth factor
      Short name=AIGF

Gene names

Name:	FGF8
Synonyms:	AIGF

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Hide | Top

Protein attributes

Sequence length	233 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

Hide | Top

General annotation (Comments)

Function	Stimulates growth of the cells in an autocrine manner. Mediates hormonal action on the growth of cancer cells.
Subcellular location	Secreted.
Developmental stage	In adults expression is restricted to the gonads.
Involvement in 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. 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.
Sequence similarities	Belongs to the heparin-binding growth factors family.

Hide | Top

Ontologies

Keywords
Cellular component	Secreted
Coding sequence diversity	Alternative splicing
Disease	Disease mutation Hypogonadotropic hypogonadism Kallmann syndrome
Domain	Signal
Molecular function	Growth factor Mitogen
PTM	Glycoprotein
Technical term	3D-structure
Gene Ontology (GO)
Biological process	cell proliferation Non-traceable author statement. Source: UniProtKB fibroblast growth factor receptor signaling pathway Inferred from Experiment. Source: Reactome gastrulation Ref.4 Traceable author statement. Source: ProtInc
Cellular component	extracellular region Inferred from Experiment. Source: Reactome
Molecular function	growth factor activity Non-traceable author statement. Source: UniProtKB
Complete GO annotation...

Hide | Top

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] Note: Additional isoforms seem to exist.

Isoform FGF-8E (identifier: P55075-1) 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.

Isoform FGF-8A (identifier: P55075-2) The sequence of this isoform differs from the canonical sequence as follows: 24-52: Missing.

Isoform FGF-8B (identifier: P55075-3) The sequence of this isoform differs from the canonical sequence as follows: 24-51: EGPGRGPALGRELASLFRAGREPQGVSQ → VTVQSSPNFT

Isoform FGF-8F (identifier: P55075-4) The sequence of this isoform differs from the canonical sequence as follows: 52-52: Q → QVTVQSSPNFTQ

Hide | Top

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Signal peptide

1 – 22

Potential

Chain

23 – 233

211

Fibroblast growth factor 8

PRO_0000008970

Amino acid modifications

Glycosylation

155

N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence

24 – 52

Missing in isoform FGF-8A.

VSP_001525

Alternative sequence

24 – 51

EGPGR…QGVSQ → VTVQSSPNFT in isoform FGF-8B.

VSP_001524

Alternative sequence

Q → QVTVQSSPNFTQ in isoform FGF-8F.

VSP_001526

Natural variant

H → N in IHH.

VAR_057962

Natural variant

P → L in KAL6.

VAR_057963

Natural variant

F → L in IHH.

VAR_057964

Natural variant

K → E in IHH.

VAR_057965

Natural variant

116

R → G in KAL6.

VAR_057966

Natural variant

218

T → M in IHH.

VAR_057967

Secondary structure

233

Helix Strand Turn

Details...

Hide | Top

Sequences

Sequence		Length	Mass (Da)
Isoform FGF-8E [UniParc]. Last modified October 1, 1996. Version 1. Checksum: 4C1EAF932A3A211D Show »	FASTA	233	26,525
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 « Hide
Isoform FGF-8A. Checksum: 9A4CAB7686A2B190 Show »	FASTA	204	23,522
10 20 30 40 50 60 MGSPRSALSC LLLHLLVLCL QAQHVREQSL VTDQLSRRLI RTYQLYSRTS GKHVQVLANK 70 80 90 100 110 120 RINAMAEDGD PFAKLIVETD TFGSRVRVRG AETGLYICMN KKGKLIAKSN GKGKDCVFTE 130 140 150 160 170 180 IVLENNYTAL QNAKYEGWYM AFTRKGRPRK GSKTRQHQRE VHFMKRLPRG HHTTEQSLRF 190 200 EFLNYPPFTR SLRGSQRTWA PEPR « Hide
Isoform FGF-8B. Checksum: A39424271EF7CBFF Show »	FASTA	215	24,711
10 20 30 40 50 60 MGSPRSALSC LLLHLLVLCL QAQVTVQSSP NFTQHVREQS LVTDQLSRRL IRTYQLYSRT 70 80 90 100 110 120 SGKHVQVLAN KRINAMAEDG DPFAKLIVET DTFGSRVRVR GAETGLYICM NKKGKLIAKS 130 140 150 160 170 180 NGKGKDCVFT EIVLENNYTA LQNAKYEGWY MAFTRKGRPR KGSKTRQHQR EVHFMKRLPR 190 200 210 GHHTTEQSLR FEFLNYPPFT RSLRGSQRTW APEPR « Hide
Isoform FGF-8F. Checksum: 73DA5874CA918E6A Show »	FASTA	244	27,715
10 20 30 40 50 60 MGSPRSALSC LLLHLLVLCL QAQEGPGRGP ALGRELASLF RAGREPQGVS QQVTVQSSPN 70 80 90 100 110 120 FTQHVREQSL VTDQLSRRLI RTYQLYSRTS GKHVQVLANK RINAMAEDGD PFAKLIVETD 130 140 150 160 170 180 TFGSRVRVRG AETGLYICMN KKGKLIAKSN GKGKDCVFTE IVLENNYTAL QNAKYEGWYM 190 200 210 220 230 240 AFTRKGRPRK GSKTRQHQRE VHFMKRLPRG HHTTEQSLRF EFLNYPPFTR SLRGSQRTWA PEPR « Hide

Hide | Top

References

[1]	"Human androgen-induced growth factor in prostate and breast cancer cells: its molecular cloning and growth properties." Tanaka A., Miyamoto K., Matsuo H., Matsumoto K., Yoshida H. FEBS Lett. 363:226-230(1995) [PubMed: 7737407] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM FGF-8A).
[2]	"Molecular cloning and characterization of human FGF8 alternative messenger RNA forms." Ghosh A.K., Shankar D.B., Shackleford G.M., Wu K., T'Ang A., Miller G.J., Zheng J., Roy-Burman P. Cell Growth Differ. 7:1425-1434(1996) [PubMed: 8891346] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS FGF-8A; FGF-8B AND FGF-8E). Tissue: Prostate.
[3]	"Structure and sequence of human FGF8." Gemel J., Gorry M., Ehrlich G.D., Macarthur C.A. Genomics 35:253-257(1996) [PubMed: 8661131] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORMS FGF-8B; FGF-8E AND FGF-8F). Tissue: Placenta.
[4]	"The human FGF-8 gene localizes on chromosome 10q24 and is subjected to induction by androgen in breast cancer cells." Payson R.A., Wu J., Liu Y., Chiu I.-M. Oncogene 13:47-53(1996) [PubMed: 8700553] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS FGF-8A AND FGF-8F).
[5]	"A novel isoform of human fibroblast growth factor 8 is induced by androgens and associated with progression of esophageal carcinoma." Tanaka S., Ueo H., Mafune K., Mori M., Wands J.R., Sugimachi K. Dig. Dis. Sci. 46:1016-1021(2001) [PubMed: 11341643] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM FGF-8F). Tissue: Oesophageal carcinoma.
[6]	NIEHS SNPs program Submitted (JUN-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORM FGF-8F).
[7]	"Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice." 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. J. Clin. Invest. 118:2822-2831(2008) [PubMed: 18596921] [Abstract] Cited for: VARIANTS KAL6 LEU-26 AND GLY-116, VARIANTS IHH ASN-14; LEU-40; GLU-89 AND MET-218.
+	Additional computationally mapped references.

Hide | Top

Web resources

NIEHS-SNPs

Hide | Top

Cross-references

Sequence databases

S78466

S78465 Genomic DNA. Translation: AAB34255.1.
D38752 Genomic DNA. Translation: BAA22527.1.
U46213 mRNA. Translation: AAB40955.1.
U46212 mRNA. Translation: AAB40954.1.
U46211 mRNA. Translation: AAB40953.1.
U47011, U47009, U47010 Genomic DNA. Translation: AAC50784.1.
U47011, U47009, U47010 Genomic DNA. Translation: AAC50785.1.
U47011, U47009, U47010 Genomic DNA. Translation: AAC50782.1.
U36223 mRNA. Translation: AAB17893.1.
U36228

U36227 Genomic DNA. Translation: AAB17894.1.
U47011, U47009, U47010 Genomic DNA. Translation: AAC50783.1.
U56978 mRNA. Translation: AAB03787.1.
AB014615 mRNA. Translation: BAA28605.1.
AF520763 Genomic DNA. Translation: AAM55238.1.

IPI

IPI00183471.
IPI00218332.
IPI00218333.
IPI00219933.

RefSeq

NP_149354.1.

UniGene

Hs.57710

3D structure databases

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2FDB	X-ray	2.28	M/N	52-204	[»]

ModBase

Search...

Proteomic databases

PRIDE

P55075.

Genome annotation databases

Ensembl

ENSG00000107831. Homo sapiens. [Contig view]

GeneID

2253.

Organism-specific databases

GeneCards

GC10M103519.

H-InvDB

HIX0035300.

HGNC

HGNC:3686. FGF8.

MIM

146110. phenotype.
600483. gene.
612702. phenotype.

Orphanet

478. Kallmann syndrome.

PharmGKB

PA28125.

GenAtlas

Search...

Phylogenomic databases

HOVERGEN

P55075.

OMA

P55075. GQGHEDR.

Enzyme and pathway databases

Pathway_Interaction_DB

fgf_pathway. FGF signaling pathway.

Reactome

REACT_9470. Signaling by FGFR.

Gene expression databases

ArrayExpress

P55075.

Bgee

P55075.

CleanEx

HS_FGF8.

GermOnline

ENSG00000107831. Homo sapiens.

Family and domain databases

InterPro

IPR002348. IL1_HBGF.
[Graphical view]

PANTHER

PTHR11486. IL1_HBGF. 1 hit.

Pfam

PF00167. FGF. 1 hit.
[Graphical view]

PRINTS

PR00262. IL1HBGF.

ProDom

PD000831. IL1_HBGF. 1 hit.
[Graphical view] [Entries sharing at least one domain]

SMART

SM00442. FGF. 1 hit.
[Graphical view]

PROSITE

PS00247. HBGF_FGF. 1 hit.
[Graphical view]

ProtoNet

Search...

Other Resources

NextBio

9121.

SOURCE

Search...

Hide | Top

Entry information

Entry name

FGF8_HUMAN

Accession

Primary (citable) accession number: P55075
Secondary accession number(s): Q14915, Q15766

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	October 1, 1996
Last modified:	June 16, 2009
This is version 82 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Hide | Top