InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: F8

Summary

InnateDB Protein

IDBP-92136.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Protein Name

coagulation factor VIII, procoagulant component

Synonyms

AHF; DXS1253E; F8B; F8C; FVIII; HEMA;

Species

Homo sapiens

Ensembl Protein

ENSP00000353393

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: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

Protein Structure and Domains

PDB ID

InterPro

IPR000421 Coagulation factor 5/8 C-terminal type domain
IPR008972 Cupredoxin
IPR008979 Galactose-binding domain-like
IPR011706 Multicopper oxidase, type 2
IPR011707 Multicopper oxidase, type 3

PFAM

PF00754
PF07731
PF07732

PRINTS

PIRSF

SMART

SM00231

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P00451