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
coagulation factor VIII, procoagulant component
coagulation factor VIII, procoagulant component
coagulation factor VIII, procoagulant component
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
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Formation of Fibrin Clot (Clotting Cascade) pathway
Platelet degranulation pathway
Platelet activation, signaling and aggregation pathway
Intrinsic Pathway pathway
Response to elevated platelet cytosolic Ca2+ pathway
Hemostasis pathway
KEGG
Complement and coagulation cascades pathway
INOH
PID BIOCARTA
Intrinsic prothrombin activation pathway [Biocarta view]
PID NCI
Cross-References
SwissProt P00451
TrEMBL A0A2G6 A0FJ19 B1B0G8 B1B0G9 Q003V5 Q003V9 Q2VF45 Q71UI6 Q9UQQ5
UniProt Splice Variant
Entrez Gene 2157
UniGene Hs.654450
RefSeq NM_000132 NM_019863
HUGO HGNC:3546
OMIM 300841
CCDS CCDS35457 CCDS44026
HPRD
IMGT
EMBL AC109993 AF081784 AJ131818 AK289947 AK313707 AY769950 BC022513 BC064380 BC098389 BC111967 BC111969 BX470111 BX842559 BX842564 BX890586 CH471172 DQ173562 DQ173592 DQ173593 DQ173594 DQ173595 DQ173596 DQ173598 DQ173599 DQ173600 DQ173601 DQ173602 DQ173603 DQ173604 DQ173605 DQ173606 DQ173607 DQ173608 DQ173609 DQ173610 DQ173611 DQ173612 DQ173613 DQ173614 DQ173615 DQ173616 DQ173617 DQ173618 DQ173619 DQ173620 DQ173621 DQ173622 DQ173623 DQ173624 DQ173625 DQ173626 DQ173627 DQ173628 DQ173629 DQ173630 DQ173631 DQ173632 DQ173633 DQ173634 DQ173635 DQ173636 DQ173637 DQ173638 DQ173639 DQ173640 DQ173641 DQ173642 DQ978230 DQ978234 EF012149 EF012154 EF012156 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 AAC32196 AAH22513 AAH64380 AAH98389 AAI11968 AAI11970 AAV85964 ABB58721 ABC25733 ABC25738 ABC25743 ABC25748 ABC25753 ABC25762 ABC25767 ABC25772 ABC25777 ABC25782 ABC25787 ABC25792 ABC25797 ABC25802 ABC25807 ABC25812 ABC25817 ABC25822 ABC25827 ABC25832 ABC25837 ABC25842 ABC25847 ABC25852 ABC25857 ABC25862 ABC25867 ABC25872 ABC25877 ABC25882 ABC25887 ABC25892 ABC25897 ABC25902 ABC25907 ABC25912 ABC25917 ABC25922 ABC25927 ABC25932 ABC25937 ABC25942 ABC25947 ABC25952 ABC25957 ABC25962 ABC25967 ABC25972 ABC25977 ABC25982 ABJ51916 ABJ51920 ABJ51927 ABK19828 ABK19830 BAF82636 BAG36452 CAA25619 CAB40351 CAI41660 CAI41666 CAI41672 CAI43241 CAO03404 EAW72645
RNA Seq Atlas 2157