F9

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]

Description

Coagulation factor IX

Tissue specificity

Tissue enriched (liver)

Predicted location

Secreted to blood

Protein family

Candidate cardiovascular disease genes
Disease related genes
Enzymes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

X (139530739 - 139563459)

Ensembl ID

ENSG00000101981  (ver. 103.38)

Orthologs

Mouse F9: ENSMUSG00000031138

UniProt

P00740

neXtProt

NX_P00740

Human splice variants
Mouse splice variants

Protein structure