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UniProtKB/Swiss-Prot entry P55075


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name FGF8_HUMAN
Primary accession number P55075
Secondary accession numbers Q14915 Q15766
Integrated into Swiss-Prot on October 1, 1996
Sequence was last modified on October 1, 1996 (Sequence version 1)
Annotations were last modified on    June 16, 2009 (Entry version 82)
Name and origin of the protein
Protein name Fibroblast growth factor 8 [Precursor]
Synonyms FGF-8
Heparin-binding growth factor 8
HBGF-8
Androgen-induced growth factor
AIGF
Gene name
Name: FGF8
Synonyms: AIGF
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[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.
    NameFGF-8E
    Isoform IDP55075-1
    This is the isoform sequence displayed in this entry.
    NameFGF-8A
    Isoform IDP55075-2
    Features which should be applied to build the isoform sequence: VSP_001525.
    NameFGF-8B
    Isoform IDP55075-3
    Features which should be applied to build the isoform sequence: VSP_001524.
    NameFGF-8F
    Isoform IDP55075-4
    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
GeneCards GC10M103519; -.
H-InvDB HIX0035300; -.
HGNC HGNC:3686; FGF8.
GenAtlas FGF8.
MIM 146110; phenotype. [NCBI / EBI]
600483; gene. [NCBI / EBI]
612702; phenotype. [NCBI / EBI]
Orphanet 478; Kallmann syndrome.
PharmGKB PA28125; -.
Gene expression databases
ArrayExpress P55075; -.
Bgee P55075; -.
CleanEx HS_FGF8; -.
GermOnline ENSG00000107831; Homo sapiens.
Ontologies
GO
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
NextBio 9121; -.
SOURCE FGF8; Homo sapiens.
ProtoNet P55075.
UniRef 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
SEVIEWER logo Feature table viewer
KeyFrom   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

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