| URN | urn:agi-llid:2157 |
|---|---|
| Total Entities | 0 |
| Connectivity | 964 |
| Name | F8 |
| Description | coagulation factor VIII, procoagulant component |
| Notes | 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] |
| GO Molecular Function | oxidoreductase activity |
|---|---|
| serine-type endopeptidase activity | |
| metal ion binding | |
| copper ion binding |
| GO Cellular Component | extracellular region |
|---|---|
| platelet alpha granule lumen | |
| plasma membrane | |
| extracellular space |
| GO Biological Process | oxidation-reduction process |
|---|---|
| blood coagulation, intrinsic pathway | |
| hemostasis | |
| blood coagulation | |
| platelet activation | |
| cell adhesion | |
| platelet degranulation | |
| acute-phase response |
| Pathway | Coagulation Cascade |
|---|---|
| coagulation cascade pathway |
| Group | Coagulation factor |
|---|---|
| oxidation-reduction process | |
| blood coagulation, intrinsic pathway | |
| oxidoreductase activity | |
| hemostasis | |
| blood coagulation | |
| platelet activation | |
| cell adhesion | |
| platelet degranulation | |
| acute-phase response | |
| serine-type endopeptidase activity | |
| metal ion binding | |
| copper ion binding | |
| extracellular region | |
| platelet alpha granule lumen | |
| plasma membrane | |
| extracellular space | |
| Secreted proteins | |
| Biofluids assayable substances |
| LocusLink ID | 2157 |
|---|---|
| 14069 | |
| 302470 |
| Cell Localization | Extracellular |
|---|---|
| Secreted | |
| Extracellular space |
| GO ID | 0005507 |
|---|---|
| 0016491 | |
| 0006953 | |
| 0007596 | |
| 0007597 | |
| 0007155 | |
| 0030168 | |
| 0002576 | |
| 0005576 | |
| 0005615 | |
| 0005886 | |
| 0031093 | |
| 0046872 | |
| 0004252 | |
| 0007599 | |
| 0055114 |
| Alias | AHF |
|---|---|
| F8B | |
| F8C | |
| HEMA | |
| FVIII | |
| DXS1253E | |
| RP11-115M6.7 | |
| coagulation factor VIII | |
| factor VIII F8B | |
| antihemophilic factor | |
| coagulation factor VIIIc | |
| Cf8 | |
| Cf-8 | |
| RP23-62O13.8 | |
| Factor VIII | |
| procoagulant component | |
| antihemophilia globulin | |
| koate | |
| humafac | |
| haemate p | |
| antihemophilic globulin a | |
| antihemophilic factor a | |
| coagulation globulin | |
| antihemophilic globulin | |
| antihemofilic globulin | |
| clotting factor 8 | |
| antihemophilia A factor | |
| OTTMUSP00000022815 | |
| thrombocyte co factor 1 c | |
| antihemofilic factor a | |
| Coagulation factor VIIIa | |
| Factor VIII, activated | |
| Blood-coagulation factor VIII, activated | |
| Coagulation factor F8 | |
| Factor VIII associated gene 2 | |
| blood clotting factor 8 | |
| bovine blood clotting factor 8 | |
| OTTHUMP00000196174 | |
| blood coagulation factor 8 | |
| Blood-coagulation factor viiia, procoagulant | |
| OTTHUMP00000061446 | |
| blood clotting factor VIII | |
| blood coagulation factor viii | |
| blood factor viii | |
| clotting factor viii | |
| Cf VIII | |
| Cf VIIIs | |
| coagulating factor VIII, procoagulant component (hemophilia A) | |
| coagulation factor VIII, procoagulant component | |
| coagulation factor VIII, procoagulant component (hemophilia A) | |
| coagulation factor VIII, procoagulant component isoform a | |
| coagulation factor VIII, procoagulant component isoform b | |
| Coagulation factor VIIIc, procoagulant component | |
| antihemophilia factor | |
| clotting factor 8 variant | |
| DNA segment on chromosome X (unique) 1253 expressed sequence | |
| LOC497717 | |
| antihemophilic factor viii | |
| Factor VIIIF8B | |
| FACTOR VIIIA | |
| Factor VIII, thrombin-activated |
| Mouse chromosome position | X 38.17 cM |
|---|
| OMIM ID | 300841 |
|---|
| Rat chromosome position | 18p13 |
|---|
| Hugo ID | 3546 |
|---|
| Human chromosome position | Xq28 |
|---|
| Swiss-Prot Accession | P00451 |
|---|---|
| B2RRC9 | |
| Q8BQ43 | |
| B7ZNH8 | |
| Q06194 | |
| Q7TN96 | |
| A2AN88 | |
| Q14286 | |
| Q5HY69 |
| PIR ID | A47004 |
|---|---|
| I54318 |
| Unigene ID | Hs.632836 |
|---|---|
| Hs.654450 | |
| Mm.1805 | |
| Rn.95452 |
| KEGG ID | hsa:2157 |
|---|---|
| mmu:14069 | |
| rno:302470 |
| Swiss-Prot ID | FA8_MOUSE |
|---|---|
| FA8_HUMAN |
| Ensembl ID | ENSG00000185010 |
|---|---|
| ENSP00000353393 | |
| ENST00000360256 | |
| ENSP00000327895 | |
| ENST00000330287 | |
| ENSMUSG00000031196 | |
| ENSMUSP00000109719 | |
| ENSMUST00000114085 | |
| ENSMUSP00000033539 | |
| ENSMUST00000033539 |
| Homologene ID | 49153 |
|---|
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| MGI ID | 88383 |
|---|
| RGD ID | 727845 |
|---|
| MedScan ID | 2157 |
|---|