Homo sapiens Gene: GGCX
Summary
InnateDB Gene IDBG-59166.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GGCX
Gene Name gamma-glutamyl carboxylase
Synonyms VKCFD1;
Species Homo sapiens
Ensembl Gene ENSG00000115486
Encoded Proteins
gamma-glutamyl carboxylase
gamma-glutamyl carboxylase
gamma-glutamyl carboxylase
gamma-glutamyl carboxylase
gamma-glutamyl carboxylase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes an enzyme which catalyzes the posttranslational modification of vitamin K-dependent protein. Many of these vitamin K-dependent proteins are involved in coagulation so the function of the encoded enzyme is essential for hemostasis. Mutations in this gene are associated with vitamin K-dependent coagulation defect and PXE-like disorder with multiple coagulation factor deficiency. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:85544723-85561547
Strand Reverse strand
Band p11.2
Transcripts
ENST00000233838 ENSP00000233838
ENST00000430215 ENSP00000408045
ENST00000423570 ENSP00000389426
ENST00000428479 ENSP00000390748
ENST00000421496 ENSP00000400384
ENST00000465637
ENST00000473665
ENST00000482662
ENST00000481541
ENST00000496962
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
Cellular Component
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Post-translational protein modification pathway
Gamma-carboxylation, transport, and amino-terminal cleavage of proteins pathway
PTM: gamma carboxylation, hypusine formation and arylsulfatase activation pathway
Metabolism of proteins pathway
Gamma-carboxylation of protein precursors pathway
KEGG
Ubiquinone and other terpenoid-quinone biosynthesis pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.631300 Hs.77719
RefSeq NM_000821 NM_001142269 XM_005264259
HUGO
OMIM
CCDS CCDS1978 CCDS46353
HPRD 00665
IMGT
EMBL
GenPept
RNA Seq Atlas