Version 5.4
Homo sapiens Protein: F8
Summary
InnateDB Protein IDBP-92138.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol F8
Protein Name coagulation factor VIII, procoagulant component
Synonyms AHF; DXS1253E; F8B; F8C; FVIII; HEMA;
Species Homo sapiens
Ensembl Protein ENSP00000327895
InnateDB Gene IDBG-92134 (F8)
Protein Structure
UniProt Annotation
Function Factor VIII, along with calcium and phospholipid, acts as a cofactor for factor IXa when it converts factor X to the activated form, factor Xa.
Subcellular Localization Secreted, extracellular space.
Disease Associations Hemophilia A (HEMA) [MIM:306700]: A disorder of blood coagulation characterized by a permanent tendency to hemorrhage. About 50% of patients have severe hemophilia resulting in frequent spontaneous bleeding into joints, muscles and internal organs. Less severe forms are characterized by bleeding after trauma or surgery. {ECO:0000269PubMed:10215414, ECO:0000269PubMed:10338101, ECO:0000269PubMed:10404764, ECO:0000269PubMed:10408784, ECO:0000269PubMed:10554831, ECO:0000269PubMed:10612839, ECO:0000269PubMed:10691849, ECO:0000269PubMed:10800171, ECO:0000269PubMed:10886198, ECO:0000269PubMed:10896236, ECO:0000269PubMed:10910910, ECO:0000269PubMed:10910913, ECO:0000269PubMed:11298607, ECO:0000269PubMed:11341489, ECO:0000269PubMed:11410838, ECO:0000269PubMed:11442643, ECO:0000269PubMed:11442647, ECO:0000269PubMed:11554935, ECO:0000269PubMed:11748850, ECO:0000269PubMed:11857744, ECO:0000269PubMed:11858487, ECO:0000269PubMed:12195713, ECO:0000269PubMed:12199686, ECO:0000269PubMed:12203998, ECO:0000269PubMed:12325022, ECO:0000269PubMed:12351418, ECO:0000269PubMed:12406074, ECO:0000269PubMed:12614369, ECO:0000269PubMed:12871415, ECO:0000269PubMed:12930394, ECO:0000269PubMed:1301194, ECO:0000269PubMed:1301932, ECO:0000269PubMed:1301960, ECO:0000269PubMed:1349567, ECO:0000269PubMed:1356412, ECO:0000269PubMed:15682412, ECO:0000269PubMed:15810915, ECO:0000269PubMed:1639429, ECO:0000269PubMed:16805874, ECO:0000269PubMed:18184865, ECO:0000269PubMed:1851341, ECO:0000269PubMed:1908096, ECO:0000269PubMed:1908817, ECO:0000269PubMed:1973901, ECO:0000269PubMed:2104766, ECO:0000269PubMed:2105106, ECO:0000269PubMed:2105906, ECO:0000269PubMed:2106480, ECO:0000269PubMed:2107542, ECO:0000269PubMed:21371196, ECO:0000269PubMed:2495245, ECO:0000269PubMed:2498882, ECO:0000269PubMed:2499363, ECO:0000269PubMed:2506948, ECO:0000269PubMed:2510835, ECO:0000269PubMed:2833855, ECO:0000269PubMed:2835904, ECO:0000269PubMed:3012775, ECO:0000269PubMed:3122181, ECO:0000269PubMed:7579394, ECO:0000269PubMed:7759074, ECO:0000269PubMed:7794769, ECO:0000269PubMed:8322269, ECO:0000269PubMed:8449505, ECO:0000269PubMed:8639447, ECO:0000269PubMed:8644728, ECO:0000269PubMed:8759905, ECO:0000269PubMed:9029040, ECO:0000269PubMed:9326186, ECO:0000269PubMed:9341862, ECO:0000269PubMed:9450898, ECO:0000269PubMed:9452104, ECO:0000269PubMed:9569180, ECO:0000269PubMed:9569189, ECO:0000269PubMed:9603440, ECO:0000269PubMed:9792405, ECO:0000269PubMed:9829908, ECO:0000269PubMed:9886318}. Note=The disease is caused by mutations affecting the gene represented in this entry. Of particular interest for the understanding of the function of F8 is the category of CRM (cross-reacting material) positive patients (approximately 5%) that have considerable amount of F8 in their plasma (at least 30% of normal), but the protein is non- functional; i.e. the F8 activity is much less than the plasma protein level. CRM-reduced is another category of patients in which the F8C antigen and activity are reduced to approximately the same level. Most mutations are CRM negative, and probably affect the folding and stability of the protein.
Tissue Specificity
Comments
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:0005507 copper ion binding
GO:0005515 protein binding
GO:0016491 oxidoreductase activity
Biological Process
GO:0002576 platelet degranulation
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
Protein Structure and Domains
PDB ID
InterPro IPR000421 Coagulation factor 5/8 C-terminal type domain
IPR008979 Galactose-binding domain-like
PFAM PF00754
PRINTS
PIRSF
SMART SM00231
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P00451
PhosphoSite PhosphoSite-P00451
TrEMBL Q9UQQ5
UniProt Splice Variant
Entrez Gene 2157
UniGene Hs.654450
RefSeq NP_063916
HUGO HGNC:3546
OMIM 300841
CCDS CCDS44026
HPRD 02384
IMGT
EMBL AC109993 AJ131818 AK289947 AK313707 AY769950 BC022513 BC064380 BC098389 BC111967 BC111969 BX470111 BX842559 BX842564 BX890586 CH471172 EF012149 K01740 M14113 M88628 M88629 M88630 M88631 M88632 M88633 M88634 M88635 M88636 M88638 M88639 M88640 M88641 M88642 M88643 M88644 M88645 M88646 M88647 M88648 M90707 U80228 X01179
GenPept AAA52420 AAA52484 AAA52485 AAA58466 AAB61261 AAH22513 AAH64380 AAH98389 AAI11968 AAI11970 AAV85964 ABJ51927 BAF82636 BAG36452 CAA25619 CAB40351 CAI41660 CAI41666 CAI41672 CAI43241 CAO03404 EAW72645

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