InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GGCX

Summary

InnateDB Protein

IDBP-59168.6

Last Modified

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

Gene Symbol

GGCX

Protein Name

gamma-glutamyl carboxylase

Synonyms

VKCFD1;

Species

Homo sapiens

Ensembl Protein

ENSP00000233838

InnateDB Gene

IDBG-59166 (GGCX)

Protein Structure

UniProt Annotation

Function

Mediates the vitamin K-dependent carboxylation of glutamate residues to calcium-binding gamma-carboxyglutamate (Gla) residues with the concomitant conversion of the reduced hydroquinone form of vitamin K to vitamin K epoxide. {ECO:0000269PubMed:17073445}.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000269PubMed:10910912}; Multi-pass membrane protein {ECO:0000269PubMed:10910912}.

Disease Associations

Combined deficiency of vitamin K-dependent clotting factors 1 (VKCFD1) [MIM:277450]: VKCFD leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. {ECO:0000269PubMed:11071668, ECO:0000269PubMed:15287948, ECO:0000269PubMed:9845520}. Note=The disease is caused by mutations affecting the gene represented in this entry.Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD) [MIM:610842]: Characterized by hyperlaxity of the skin involving the entire body. Important phenotypic differences with classical PXE include much more severe skin laxity with spreading toward the trunk and limbs with thick, leathery skin folds rather than confinement to flexural areas, and no decrease in visual acuity. Moreover, detailed electron microscopic analyzes revealed that alterations of elastic fibers as well as their mineralization are slightly different from those in classic PXE. {ECO:0000269PubMed:17110937}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.

Experimentally validated
Total	4 [view]
Protein-Protein	3 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0008488	gamma-glutamyl carboxylase activity

Biological Process

GO:0006464	cellular protein modification process
GO:0007596	blood coagulation
GO:0017187	peptidyl-glutamic acid carboxylation
GO:0043687	post-translational protein modification
GO:0044267	cellular protein metabolic process