InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: F9

Summary

InnateDB Protein

IDBP-87827.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Protein Name

coagulation factor IX

Synonyms

FIX; HEMB; P19; PTC; THPH8;

Species

Homo sapiens

Ensembl Protein

ENSP00000218099

InnateDB Gene

IDBG-87825 (F9)

Protein Structure

UniProt Annotation

Function

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 Ca(2+) ions, phospholipids, and factor VIIIa.

Subcellular Localization

Secreted.

Disease Associations

Hemophilia B (HEMB) [MIM:306900]: An X-linked blood coagulation disorder characterized by a permanent tendency to hemorrhage, due to factor IX deficiency. It is phenotypically similar to hemophilia A, but patients present with fewer symptoms. Many patients are asymptomatic until the hemostatic system is stressed by surgery or trauma. {ECO:0000269PubMed:10094553, ECO:0000269PubMed:10698280, ECO:0000269PubMed:11122099, ECO:0000269PubMed:12588353, ECO:0000269PubMed:12604421, ECO:0000269PubMed:1346975, ECO:0000269PubMed:1615485, ECO:0000269PubMed:1902289, ECO:0000269PubMed:1958666, ECO:0000269PubMed:2162822, ECO:0000269PubMed:2339358, ECO:0000269PubMed:2372509, ECO:0000269PubMed:2472424, ECO:0000269PubMed:2592373, ECO:0000269PubMed:2713493, ECO:0000269PubMed:2714791, ECO:0000269PubMed:2738071, ECO:0000269PubMed:2753873, ECO:0000269PubMed:2773937, ECO:0000269PubMed:2775660, ECO:0000269PubMed:3009023, ECO:0000269PubMed:3243764, ECO:0000269PubMed:3401602, ECO:0000269PubMed:3790720, ECO:0000269PubMed:6603618, ECO:0000269PubMed:7981722, ECO:0000269PubMed:8076946, ECO:0000269PubMed:8199596, ECO:0000269PubMed:8257988, ECO:0000269PubMed:8295821, ECO:0000269PubMed:8680410, ECO:0000269PubMed:9222764, ECO:0000269PubMed:9452115, ECO:0000269PubMed:9590153, ECO:0000269PubMed:9600455}. Note=The disease is caused by mutations affecting the gene represented in this entry.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.Thrombophilia, X-linked, due to factor IX defect (THPH8) [MIM:300807]: A hemostatic disorder characterized by a tendency to thrombosis. {ECO:0000269PubMed:19846852}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Synthesized primarily in the liver and secreted in plasma.

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR000294 Gamma-carboxyglutamic acid-rich (GLA) domain
IPR000742 Epidermal growth factor-like domain
IPR001254 Peptidase S1
IPR001314 Peptidase S1A, chymotrypsin-type
IPR001881 EGF-like calcium-binding domain
IPR009003 Trypsin-like cysteine/serine peptidase domain
IPR012224 Peptidase S1A, coagulation factor VII/IX/X/C/Z

PFAM

PF00594
PF00008
PF00089
PF07645

PRINTS

PR00001
PR00722

PIRSF

PIRSF001143

SMART

SM00069
SM00181
SM00020
SM00179

TIGRFAMs

Post-translational Modifications

Modification

Cross-References