GGCX Gene Summary [Human]

This gene encodes an integral membrane protein of the rough endoplasmic reticulum that carboxylates glutamate residues of vitamin K-dependent proteins to gamma carboxyl glutamate, a modification that is required for their activity. The vitamin K-dependent protein substrates have a propeptide that binds the enzyme, with carbon dioxide, dioxide, and reduced vitamin K acting as co-substrates. Vitamin K-dependent proteins affect a number of physiologic processes including blood coagulation, prevention of vascular calcification, and inflammation. Allelic variants of this gene have been associated with pseudoxanthoma elasticum-like disorder with associated multiple coagulation factor deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

Details

Type
Protein Coding
Official Symbol
GGCX
Official Name
gamma-glutamyl carboxylase [Source:HGNC Symbol;Acc:HGNC:4247]
Ensembl ID
ENSG00000115486
Bio databases IDs NCBI: 2677 Ensembl: ENSG00000115486
Aliases gamma-glutamyl carboxylase, vitamin K-dependent gamma-carboxylase, peptidyl-glutamate 4-carboxylase
Synonyms Gamma Carboxylase, gamma-glutamyl carboxylase, LOC100507238, VKCFD1, γ Carboxylase, γ-glutamyl carboxylase
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GGCX often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • vitamin binding
  • Vitamin K-dependent gamma-carboxylase
  • enzyme
  • gamma-glutamyl carboxylase
  • DoxX-like family
  • Horizontally Transferred TransMembrane Domain
  • RmlC-like cupin superfamily

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • cancer
  • epithelial cancer
  • organismal death
  • pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
  • prostate cancer
  • combined deficiency of vitamin K-dependent clotting factors type 1
  • angina pectoris
  • coronary artery disease
  • myocardial infarction
  • abdominal hemorrhage
regulated by
  • N-ethylmaleimide
  • CALU
  • vitamin k hydroquinone
  • anisindione
  • XBP1
  • TM cells
  • SYVN1
regulates
role in cell
  • carboxylation in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • cellular membrane
  • endoplasmic reticulum membrane
  • endoplasmic reticulum lumen

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human GGCX gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • protein modification process
  • vitamin K metabolic process
  • peptidyl-glutamic acid carboxylation
  • blood coagulation

Cellular Component

Where in the cell the gene product is active
  • endoplasmic reticulum membrane
  • membrane

Molecular Function

What the gene product does at the molecular level
  • gamma-glutamyl carboxylase activity
  • vitamin binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.