F9 - coagulation factor IX Gene
Also Known as FIX; P19; PTC; HEMB; THPH8; F9 p22
Species: Homo sapiens
About F9
This gene has 4 transcripts (splice variants), 216 orthologues, 16 paralogues and is associated with 7 phenotypes. Restricted expression toward liver (RPKM 181.1).
Summary
This gene encodes vitamin K-dependent coagulation factor IX that circulates in the blood as an inactive zymogen. This factor is converted to an active form by factor XIa, which excises the activation peptide and thus generates a heavy chain and a light chain held together by one or more disulfide bonds. The role of this activated factor IX in the blood coagulation cascade is to activate factor X to its active form through interactions with Ca+2 ions, membrane Phospholipids, and Factor VIII. Alterations of this gene, including point mutations, insertions and deletions, cause factor IX deficiency, which is a recessive X-linked disorder, also called hemophilia B or Christmas disease. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Sep 2015]
F9 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_000133.4 | NP_000124.1 | coagulation factor IX isoform 1 preproprotein |
| NM_001313913.2 | NP_001300842.1 | coagulation factor IX isoform 2 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables calcium ion binding |
EXP
EXP: Inferred from Experiment
|
14722079 | GOA |
| enables calcium ion binding |
IDA
IDA: Inferred from direct assay
|
9169594 | GOA |
| enables endopeptidase activity |
IDA
IDA: Inferred from direct assay
|
2592373 | GOA |
| enables metal ion binding |
EXP
EXP: Inferred from Experiment
|
14722079 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
26157780 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in blood coagulation |
IDA
IDA: Inferred from direct assay
|
2472424 | GOA |
| involved in blood coagulation |
IMP
IMP: Inferred from mutant phenotype
|
2592373 | GOA |
| involved in proteolysis |
IDA
IDA: Inferred from direct assay
|
20121197 | GOA |
| involved in zymogen activation |
IDA
IDA: Inferred from direct assay
|
2592373 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in extracellular space |
IDA
IDA: Inferred from direct assay
|
2592373 | GOA |
F9 Protein Structure
Gla: Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain (52 - 93)
EGF: EGF-like domain (97 - 127)
FXa_inhibition: Coagulation Factor Xa inhibitory site (134 - 170)
Trypsin: Trypsin (227 - 454)
- 0
- 100
- 200
- 300
- 400
- 461 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
coagulation factor IX |
|
Recombinant F9 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P70231 | Coagulation factor IX/F9 Protein, Human (HEK293, His) | P00740-1 (T29-T461) | ≥ 95%, as determined by reducing SDS-PAGE. |
F9 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P810760 | Factor IX Antibody (YA10003) | WB, ICC/IF | Human, Mouse |
| HY-P81608 | Factor IX Antibody (YA1353) | WB | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Hemophilia B |
|
|
| Thrombophilia, X-Linked, Due To Factor Ix Defect |
|
|
| Warfarin Sensitivity, X-Linked |
|
|
| Hemophilia B Leyden |
|
|
| Hemophilia A |
|
|
| Factor Viii Deficiency |
|
|
| Hemophilia |
|
|
| Thrombophilia |
|
|
| Hemarthrosis |
|
|
| Factor Xi Deficiency |
|
|
| Factor Vii Deficiency |
|
|
| Factor X Deficiency |
|
|
| Thrombosis |
|
|
| Hemorrhagic Disease |
|
|
| Protein C Deficiency |
|
|
| Cardiac Tamponade |
|
|
| Von Willebrand'S Disease |
|
|
| Factor V Deficiency |
|
|
| Arthropathy |
|
|
| Disseminated Intravascular Coagulation |
|
|
| Factor Xii Deficiency |
|
|
| Sneddon Syndrome |
|
|
| Atrial Fibrillation |
|
|
| Immunoglobulin Light Chain Amyloidosis |
|
|
| Pulmonary Embolism |
|
|
| Thrombophilia Due To Activated Protein C Resistance |
|
|
| Glanzmann Thrombasthenia 1 |
|
|
| Color Blindness |
|
|
| Congenital Disorder Of Glycosylation, Type Ia |
|
|
| Retinal Artery Occlusion |
|
|
| Intracranial Hypertension |
|
|
| Brachydactyly, Type D |
|
|
| Blood Coagulation Disease |
|
|
| Dilated Cardiomyopathy 1t |
|
|
| Thrombophilia Due To Thrombin Defect |
|
|
| Coumarin Resistance |
|
|
| Bernard-Soulier Syndrome |
|
|
| Nephrotic Syndrome |
|
|
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
|
| Vitamin K Deficiency Bleeding |
|
|
| Prothrombin Deficiency |
|
|
| Acquired Immunodeficiency Syndrome |
|
|
| Factor Xiii Deficiency |
|
|
| Thrombocytopenia |
|
|
| Compartment Syndrome |
|
|
| Tyrosinemia, Type I |
|
|
| Ulcer Of Lower Limbs |
|
|
| Gaucher'S Disease |
|
|
| Mucopolysaccharidosis, Type Ii |
|
|
| Bilirubin Metabolic Disorder |
|
|
| Adenosine Deaminase Deficiency |
|
|
| Myocardial Infarction |
|
|
| Heart Disease |
|
|
| Crigler-Najjar Syndrome, Type I |
|
|
| Deficiency Anemia |
|
|
| Stroke, Ischemic |
|
|
| Leber Plus Disease |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Fanconi Anemia, Complementation Group A |
|
|
| Fundus Dystrophy |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | F9 | MGD | MGI:88384 |
| Macaca mulatta | F9 | VGNC | VGNC:72468 |
| Felis catus | F9 | VGNC | VGNC:62029 |
| Bos taurus | F9 | VGNC | VGNC:28691 |
| Canis familiaris | F9 | VGNC | VGNC:40554 |
| Rattus norvegicus | F9 | RGD | RGD:2589 |
| Others | F9 | NCBI |