F8

GENE INFORMATION

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Gene name

F8 (HGNC Symbol)

Synonyms

DXS1253E, F8C, FVIII, HEMA

Description

coagulation factor VIII, procoagulant component (HGNC Symbol)

Entrez gene summary

This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder. [provided by RefSeq, Jul 2008]

Chromosome

X (Chromosome progress)

Cytoband

q28

Chromosome location (bp)

154064063 - 154255215

Ensembl

ENSG00000185010 (version 73.37)

Entrez gene

2157

UniProt

P00451 (UniProt - Evidence at protein level)

neXtProt

NX_P00451

Antibodypedia

F8 antibodies
 

PROTEIN VIEW

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F8-001
 
F8-003
 
F8-004
 
F8-005
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

F8-001 ENSP00000353393
ENST00000360256
P00451
Show all »
Show » Show » 2351 267 Yes 0
F8-003 ENSP00000327895
ENST00000330287
P00451
Show all »
Show » Show » 216 24.6 No 0
F8-004 ENSP00000409446
ENST00000423959
B1B0G8
Show all »
Show » 222 25 No 0
F8-005 ENSP00000389153
ENST00000453950
B1B0G9
Show all »
Show » 165 18.7 No 0