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MGP001194

UniProt Annotations

Entry Information
Gene Namegamma-glutamyl carboxylase
Protein EntryVKGC_HUMAN
UniProt IDP38435
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P38435-1; Sequence=Displayed; Name=2; IsoId=P38435-2; Sequence=VSP_046179; Note=No experimental confirmation available.;
Biophysicochemical PropertiespH dependence: Optimum pH is 7. {ECO:0000269|PubMed:17073445};
Catalytic Activity[Peptidyl]-4-carboxyglutamate + 2,3- epoxyphylloquinone + H(2)O = [peptidyl]-glutamate + CO(2) + O(2) + phylloquinone.
DiseaseCombined 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:0000269|PubMed:11071668, ECO:0000269|PubMed:15287948, ECO:0000269|PubMed:9845520}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseasePseudoxanthoma 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:0000269|PubMed:17110937}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionMediates 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:0000269|PubMed:17073445}.
MiscellaneousThe vitamin K-dependent protein substrates of carboxylase have usually a propeptide that binds to a high- affinity site on the carboxylase. CO(2), O(2) and reduced vitamin K are cosubstrates.
SimilarityBelongs to the vitamin K-dependent gamma-carboxylase family. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum membrane {ECO:0000269|PubMed:10910912}; Multi-pass membrane protein {ECO:0000269|PubMed:10910912}.
SubunitMonomer. May interact with CALU (By similarity). {ECO:0000250}.
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