Homo sapiens Gene: F9
Summary
InnateDB Gene IDBG-87825.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol F9
Gene Name coagulation factor IX
Synonyms FIX; HEMB; P19; PTC; THPH8
Species Homo sapiens
Ensembl Gene ENSG00000101981
Encoded Proteins
coagulation factor IX
coagulation factor IX
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome X:139530758-139563458
Strand Forward strand
Band q27.1
Transcripts
ENST00000218099 ENSP00000218099
ENST00000394090 ENSP00000377650
ENST00000479617
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated
Total 5 [view]
Protein-Protein 3 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0004252 serine-type endopeptidase activity
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0008233 peptidase activity
Biological Process
GO:0006508 proteolysis
GO:0007596 blood coagulation
GO:0007597 blood coagulation, intrinsic pathway
GO:0007598 blood coagulation, extrinsic pathway
GO:0017187 peptidyl-glutamic acid carboxylation
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process
Cellular Component
GO:0005576 extracellular region
GO:0005788 endoplasmic reticulum lumen
GO:0005796 Golgi lumen
GO:0005886 plasma membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Intrinsic Pathway pathway
Extrinsic Pathway pathway
Gamma-carboxylation of protein precursors pathway
Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus pathway
Removal of aminoterminal propeptides from gamma-carboxylated proteins pathway
Gamma-carboxylation, transport, and amino-terminal cleavage of proteins pathway
Post-translational protein modification pathway
Formation of Fibrin Clot (Clotting Cascade) pathway
PTM: gamma carboxylation, hypusine formation and arylsulfatase activation pathway
Metabolism of proteins pathway
Hemostasis pathway
KEGG
Complement and coagulation cascades pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.522798
RefSeq NM_000133 XM_006724742
HUGO
OMIM
CCDS CCDS14666
HPRD 02385
IMGT
EMBL
GenPept
RNA Seq Atlas