F8 - coagulation factor VIII Gene
Also Known as AHF; F8B; F8C; HEMA; FVIII; THPH13; DXS1253E
Species: Homo sapiens
About F8
This gene has 7 transcripts (splice variants), 149 orthologues, 35 paralogues and is associated with 6 phenotypes. Broad expression in fat (RPKM 7.9), lung (RPKM 6.4) and 23 other tissues.
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]
F8 Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_000132.4 | NP_000123.1 | coagulation factor VIII isoform a preproprotein |
| NM_019863.3 | NP_063916.1 | coagulation factor VIII isoform b |
| NM_000132.4 | NP_000123.1 | coagulation factor VIII isoform a preproprotein |
| NM_019863.3 | NP_063916.1 | coagulation factor VIII isoform b |
| Molecular Function GO Annotation | Evidence | Referencias | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
7756647 | GOA |
F8 Protein Structure
Cu-oxidase_3: Multicopper oxidase (90 - 197)
Cu-oxidase: Multicopper oxidase (224 - 348)
Cu-oxidase_3: Multicopper oxidase (456 - 572)
Cu-oxidase_2: Multicopper oxidase (1943 - 2036)
F5_F8_type_C: F5/8 type C domain (2055 - 2185)
F5_F8_type_C: F5/8 type C domain (2208 - 2342)
- 0
- 400
- 800
- 1200
- 1600
- 2000
- 2351 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
coagulation factor VIII |
|
F8 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Referencias |
|---|---|---|---|---|---|---|---|
|
Intra
|
F8 | P00451 | VWF | Homo sapiens | P04275 | 18492805 | |
|
Intra
|
F8 | P00451 | VWF | Homo sapiens | P04275 | 27749002 |
F8 Antibodies
| Referencia número | Nombre del producto | Aplicación | Reactivity |
|---|---|---|---|
| HY-P85156 | Factor VIII Antibody | WB, IHC-P, ICC/IF, ELISA | Human, Mouse |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Hemophilia A |
|
|
| Thrombophilia, X-Linked, Due To Factor Viii Defect |
|
|
| Factor Viii Deficiency |
|
|
| Hemophilia B |
|
|
| Hemophilia |
|
|
| Hemarthrosis |
|
|
| Von Willebrand'S Disease |
|
|
| Cardiac Tamponade |
|
|
| Von Willebrand Disease, Type 1 |
|
|
| Von Willebrand Disease, Type 3 |
|
|
| Von Willebrand Disease, Type 2 |
|
|
| Hemorrhagic Disease |
|
|
| Thrombophilia |
|
|
| Blood Platelet Disease |
|
|
| Arthropathy |
|
|
| Factor V Deficiency |
|
|
| Factor Xiii Deficiency |
|
|
| Factor V And Factor Viii, Combined Deficiency Of, 2 |
|
|
| Thrombophilia Due To Activated Protein C Resistance |
|
|
| Compartment Syndrome |
|
|
| Thrombocytopenia |
|
|
| Factor Vii Deficiency |
|
|
| Brachydactyly, Type D |
|
|
| Thrombosis |
|
|
| Acquired Von Willebrand Syndrome |
|
|
| Vitamin K Deficiency Bleeding |
|
|
| Bernard-Soulier Syndrome |
|
|
| Glanzmann Thrombasthenia 1 |
|
|
| Thrombophilia Due To Thrombin Defect |
|
|
| Cerebral Palsy |
|
|
| Afibrinogenemia, Congenital |
|
|
| Retinal Artery Occlusion |
|
|
| Intracranial Thrombosis |
|
|
| Hepatic Veno-Occlusive Disease |
|
|
| Childhood Angiosarcoma |
|
|
| Thrombophlebitis |
|
|
| Prothrombin Deficiency |
|
|
| Blood Coagulation Disease |
|
|
| Pulmonary Embolism |
|
|
| Portal Vein Thrombosis |
|
|
| Factor Xi Deficiency |
|
|
| Sneddon Syndrome |
|
|
| Thrombotic Thrombocytopenic Purpura |
|
|
| Thrombocytopenic Purpura, Autoimmune |
|
|
| Homocystinuria |
|
|
| Breast Hemangioma |
|
|
| Hobnail Hemangioma |
|
|
| Pseudo-Von Willebrand Disease |
|
|
| Angiodysplasia |
|
|
| Synovial Angioma |
|
|
| Hypothyroidism |
|
|
| Post-Thrombotic Syndrome |
|
|
| Cerebral Arteritis |
|
|
| Intracranial Sinus Thrombosis |
|
|
| Alpha-2-Plasmin Inhibitor Deficiency |
|
|
| Heart Disease |
|
|
| Factor X Deficiency |
|
|
| Vascular Disease |
|
|
| Myocardial Infarction |
|
|
| Pulmonary Artery Disease |
|
|
| Vein Disease |
|
|
| Diabetes Mellitus |
|
|
| Cardiovascular System Disease |
|
|
| Systemic Lupus Erythematosus |
|
|
| Brachydactyly |
|
|
| Type 2 Diabetes Mellitus |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | F8 | MGD | MGI:88383 |
| Rattus norvegicus | F8 | RGD | RGD:727845 |
| Canis familiaris | F8 | VGNC | VGNC:40553 |
| Bos taurus | F8 | VGNC | VGNC:28690 |
| Macaca mulatta | F8 | VGNC | VGNC:72467 |
| Others | F8 | NCBI |