Coagulation Factor IX

Factor IX is a vitamin K-dependent plasma protein that participates in the intrinsic pathway of blood coagulation by converting factor X to its active form in the presence of Ca2+ ions, phospholipids, and factor VIIIa.

Coagulation Factor IX Related Areas

Enzyme>>Protease & Regulator>>Serine Protease & Regulator>>Coagulation Factor IX

Immunology>>Innate Immunity>>Coagulation>>Coagulation Factor IX

Coagulation Factor IX Alternative Names

Coagulation Factor IX, FIX, F9, RP6-88D7.1, FIX, HEMB, MGC129641, MGC129642, P19, PTC [Homo sapiens]

Coagulation Factor IX, FIX, F9, RP23-419J18.1, AW111646, Cf-9, Cf9 [Mus musculus]

Summaries for Coagulation Factor IX

Entrez Gene summary for Coagulation Factor IX:

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.

OMIM - description for Coagulation Factor IX:

The F9 gene encodes coagulation factor IX, which circulates as an inactive zymogen until proteolytic release of its activation peptide allows it to assume the conformation of an active serine protease (Davie and Fujikawa, 1975). Its role in the blood coagulation cascade is to activate factor X (F10; 227600) through interactions with calcium, membrane phospholipids, and factor VIII (F8; 300841). Factor IX and factor X both consist of 2 polypeptide chains referred to as the L (light) and H (heavy) chains. The H chain bears a structural resemblance to the polypeptide chain of the pancreatic serine protease trypsin (PRSS1; 276000). The L chain is covalently linked to the H chain by a single disulfide bond (Fujikawa et al., 1974).

Wikipedia summary for Coagulation Factor IX:

Factor IX (or Christmas factor) (EC 3.4.21.22) is one of the serine proteases of the coagulation system; it belongs to peptidase family S1. Deficiency of this protein causes hemophilia B. It was discovered in 1952 after a young boy named Stephen Christmas was found to be lacking this exact factor, leading to hemophilia

Human Coagulation Factor IX Protein General Information

 

• Protein names: Recommended name: Coagulation factor IX
• Sequence length: 461 AA.
• Domain: Calcium binds to the gamma-carboxyglutamic acid (Gla) residues and, with stronger affinity, to another site, beyond the Gla domain.
• Sequence similarities: Belongs to the peptidase S1 family. Contains 2 EGF-like domains. Contains 1 Gla (gamma-carboxy-glutamate) domain. Contains 1 peptidase S1 domain.
• Post-translational modification: Activated by factor XIa, which excises the activation peptide. The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains.
• Subunit structure: Heterodimer of a light chain and a heavy chain; disulfide-linked.
• Subcellular location: Secreted.
• Tissue specificity: Synthesized primarily in the liver and secreted in plasma.
• Involvement in disease: Note=Mutations in position 43 (Oxford-3, San Dimas) and 46 (Cambridge) prevents cleavage of the propeptide, mutation in position 93 (Alabama) probably fails to bind to cell membranes, mutation in position 191 (Chapel-Hill) or in position 226 (Nagoya OR Hilo) prevent cleavage of the activation peptide. Defects in F9 are the cause of thrombophilia due to factor IX defect (THPH8) [MIM:300807]. A hemostatic disorder characterized by a tendency to thrombosis.

General information above from UniProt

Function for Coagulation Factor IX Protein

UniProtKB:

Factor IX is a vitamin K-dependent plasma protein that participates in the intrinsic pathway of blood coagulation by converting factor X to its active form in the presence of Ca2+ ions, phospholipids, and factor VIIIa.

Genatlas:

• vitamin K-dependent, serine protease, activator of FX, through interactions with Ca2+, membrane phospholipids end FVIII
• plasma thromboplastic component
• Coagulation Factor IX is heterodimer of a light chain and a heavy chain, disulfide-linked

Phenotype Information for Coagulation Factor IX

• Gene/Locus: F9, HEMB, THPH8
• Phenotype: Hemophilia B Thrombophilia, X-linked, due to factor IX defect {Deep venous thrombosis, protection against} {Warfarin sensitivity}

Phenotype Information for Coagulation Factor IX from OMIM (Online Mendelian Inheritance in Man)

Drugs for Coagulation Factor IX

Target	Drug Name	Disease	Drug Status
Coagulation Factor IX	Enoxaparin	Venous thromboembolism	Approved
Coagulation Factor IX	Fondaparinux sodium	Venous thromboembolism	Approved
Coagulation Factor IX	Coagulation Factor IX	Christmas disease (hemophilia B)	Approved
Coagulation Factor IX	Danaparoid	Deep venous clots	Approved

Drugs for Coagulation Factor IX from TTD (Therapeutic Targets Database)