Version 5.4
Homo sapiens Gene: F8
Summary
InnateDB Gene IDBG-92134.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol F8
Gene Name coagulation factor VIII, procoagulant component
Synonyms AHF; DXS1253E; F8B; F8C; FVIII; HEMA
Species Homo sapiens
Ensembl Gene ENSG00000185010
Encoded Proteins
IDBP-92136
coagulation factor VIII, procoagulant component
IDBP-92138
coagulation factor VIII, procoagulant component
IDBP-383968
coagulation factor VIII, procoagulant component
IDBP-383972
coagulation factor VIII, procoagulant component
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome X:154835788-155026940
Strand Reverse strand
Band q28
Transcripts
ENST00000360256 ENSP00000353393
ENST00000330287 ENSP00000327895
ENST00000423959 ENSP00000409446
ENST00000453950 ENSP00000389153
ENST00000483822
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
Experimentally validated
Total 13 [view]
Protein-Protein 13 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004252 serine-type endopeptidase activity
GO:0005507 copper ion binding
GO:0005515 protein binding
GO:0016491 oxidoreductase activity
Biological Process
GO:0002576 platelet degranulation
GO:0006508 proteolysis
GO:0006953 acute-phase response
GO:0007155 cell adhesion
GO:0007596 blood coagulation
GO:0007597 blood coagulation, intrinsic pathway
GO:0030168 platelet activation
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005886 plasma membrane
GO:0031093 platelet alpha granule lumen
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000031196
View Gene Order
ENSBTAG00000010726
Not yet available
Pathways
NETPATH
REACTOME
REACT_326
Intrinsic Pathway pathway
REACT_318
Platelet degranulation pathway
REACT_1280
Response to elevated platelet cytosolic Ca2+ pathway
REACT_2051
Formation of Fibrin Clot (Clotting Cascade) pathway
REACT_798
Platelet activation, signaling and aggregation pathway
REACT_604
Hemostasis pathway
KEGG
hsa04610
Complement and coagulation cascades pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL B1B0G9
UniProt Splice Variant
Entrez Gene 2157
UniGene Hs.654450
RefSeq NM_000132 NM_019863
HUGO HGNC:3546
OMIM 300841
CCDS CCDS35457 CCDS44026
HPRD 02384
IMGT
EMBL AC109993 BX470111 BX842559 BX842564 BX890586
GenPept
RNA Seq Atlas 2157

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca