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Aliases for GGCX Gene

Aliases for GGCX Gene

  • Gamma-Glutamyl Carboxylase 2 3 4 5
  • Vitamin K-Dependent Gamma-Carboxylase 2 3
  • Peptidyl-Glutamate 4-Carboxylase 3 4
  • Vitamin K Gamma Glutamyl Carboxylase 4
  • EC 4.1.1.90 4
  • VKCFD1 3
  • GC 4

External Ids for GGCX Gene

Previous GeneCards Identifiers for GGCX Gene

  • GC02M085671
  • GC02M086070
  • GC02M085733
  • GC02M085750
  • GC02M085687
  • GC02M085629
  • GC02M085774
  • GC02M085673
  • GC02M085771

Summaries for GGCX Gene

Entrez Gene Summary for GGCX Gene

  • 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]

GeneCards Summary for GGCX Gene

GGCX (Gamma-Glutamyl Carboxylase) is a Protein Coding gene. Diseases associated with GGCX include Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency and Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1. Among its related pathways are Metabolism of proteins and Ubiquinol biosynthesis. GO annotations related to this gene include gamma-glutamyl carboxylase activity.

UniProtKB/Swiss-Prot for GGCX Gene

  • 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.

Gene Wiki entry for GGCX Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GGCX Gene

Genomics for GGCX Gene

Regulatory Elements for GGCX Gene

Enhancers for GGCX Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F085587 0.9 FANTOM5 ENCODE 24.3 -28.3 -28280 5.2 PKNOX1 ARNT MLX ARID4B SIN3A ZNF2 SLC30A9 ZNF143 FOS DEK GGCX VAMP8 C2orf68 USP39 CHMP3 VAMP5 RNF181
GH02F085536 0.9 FANTOM5 ENCODE 17.5 +21.8 21787 6.9 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 VAMP8 GGCX SH2D6 CAPG C2orf68 USP39 RN7SL251P RNU7-64P SNORD94 TMSB10
GH02F085550 1.3 Ensembl ENCODE 17.3 +11.1 11056 4.0 ELF3 HDGF PKNOX1 ARID4B SIN3A ZNF48 DNMT3B RAD21 RFX5 RARA USP39 GGCX VAMP8 CAPG SH2D6 TGOLN2 TMEM150A RN7SL251P RNU7-64P RETSAT
GH02F085545 0.6 ENCODE 16.8 +15.0 14995 1.2 CTCF TBL1XR1 CHD7 THRB ZNF48 DNMT3B ZNF121 POLR2A NCOR1 TRIM24 USP39 GGCX C2orf68 SH2D6 CAPG TMEM150A RNU7-64P RN7SL251P VAMP8 TMSB10
GH02F085516 0.8 Ensembl ENCODE 15.9 +44.5 44454 1.8 ELF3 ZFP64 RAD21 RARA KAT2B ZNF23 FOS EGR2 THAP11 GLIS1 GGCX RN7SL251P RNU7-64P MAT2A ELMOD3 RETSAT GC02M085532 RPSAP22
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around GGCX on UCSC Golden Path with GeneCards custom track

Promoters for GGCX Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000676790 247 2201 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 KLF13

Genomic Location for GGCX Gene

Chromosome:
2
Start:
85,544,723 bp from pter
End:
85,561,547 bp from pter
Size:
16,825 bases
Orientation:
Minus strand

Genomic View for GGCX Gene

Genes around GGCX on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GGCX Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GGCX Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GGCX Gene

Proteins for GGCX Gene

  • Protein details for GGCX Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P38435-VKGC_HUMAN
    Recommended name:
    Vitamin K-dependent gamma-carboxylase
    Protein Accession:
    P38435
    Secondary Accessions:
    • B4DMC5
    • E9PEE1
    • Q14415
    • Q6GU45

    Protein attributes for GGCX Gene

    Size:
    758 amino acids
    Molecular mass:
    87561 Da
    Quaternary structure:
    • Monomer. May interact with CALU (By similarity).
    Miscellaneous:
    • The 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.

    Alternative splice isoforms for GGCX Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GGCX Gene

Post-translational modifications for GGCX Gene

  • Ubiquitination at Lys 91 and Lys 334
  • Glycosylation at Asn 459 and Asn 550
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GGCX Gene

Domains & Families for GGCX Gene

Gene Families for GGCX Gene

Protein Domains for GGCX Gene

Graphical View of Domain Structure for InterPro Entry

P38435

UniProtKB/Swiss-Prot:

VKGC_HUMAN :
  • Belongs to the vitamin K-dependent gamma-carboxylase family.
Family:
  • Belongs to the vitamin K-dependent gamma-carboxylase family.
genes like me logo Genes that share domains with GGCX: view

Function for GGCX Gene

Molecular function for GGCX Gene

GENATLAS Biochemistry:
gamma-glutamyl carboxylase,activating vitamin K-dependent proteins,widely expressed
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 7. {ECO:0000269 PubMed:17073445};
UniProtKB/Swiss-Prot CatalyticActivity:
[Peptidyl]-4-carboxyglutamate + 2,3-epoxyphylloquinone + H(2)O = [peptidyl]-glutamate + CO(2) + O(2) + phylloquinol.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for GGCX Gene

Gene Ontology (GO) - Molecular Function for GGCX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008488 gamma-glutamyl carboxylase activity IEA,TAS --
GO:0016829 lyase activity IEA --
genes like me logo Genes that share ontologies with GGCX: view
genes like me logo Genes that share phenotypes with GGCX: view

Human Phenotype Ontology for GGCX Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GGCX Gene

MGI Knock Outs for GGCX:

Animal Model Products

miRNA for GGCX Gene

miRTarBase miRNAs that target GGCX

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for GGCX Gene

Localization for GGCX Gene

Subcellular locations from UniProtKB/Swiss-Prot for GGCX Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GGCX Gene COMPARTMENTS Subcellular localization image for GGCX gene
Compartment Confidence
endoplasmic reticulum 4
nucleus 2
peroxisome 2
plasma membrane 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for GGCX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane TAS 1749935
GO:0016021 integral component of membrane IEA,TAS --
genes like me logo Genes that share ontologies with GGCX: view

Pathways & Interactions for GGCX Gene

genes like me logo Genes that share pathways with GGCX: view

Gene Ontology (GO) - Biological Process for GGCX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006464 cellular protein modification process TAS 1749935
GO:0007596 blood coagulation TAS 9845520
GO:0017187 peptidyl-glutamic acid carboxylation IEA,TAS --
genes like me logo Genes that share ontologies with GGCX: view

No data available for SIGNOR curated interactions for GGCX Gene

Drugs & Compounds for GGCX Gene

(14) Drugs for GGCX Gene - From: DrugBank, PharmGKB, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Anisindione Approved Pharma inhibitor, Target 0
Menadione Approved Nutra inhibitor, Target, cofactor 230
Phytonadione Approved Nutra cofactor, Target, inducer 230
Warfarin Approved Pharma 454
Oxygen Approved, Vet_approved Pharma 0

(15) Additional Compounds for GGCX Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2,3-Epoxymenaquinone
Menaquinol
Phylloquinol
Reduced Vitamin K (phylloquinone)
  • Vitamin K hydroquinone (phylloquinone)
81382-12-9
vitamin k1
  • 2',3'-trans-Vitamin K1
  • 2-Methyl-3-phythyl-1,4-naphthochinon
  • 2-Methyl-3-phytyl-1,4-naphthochinon
  • 2-Methyl-3-phytyl-1,4-naphthoquinone
  • 2-Methyl-3-phytyl-1,4-napthoquinone
12001-79-5
genes like me logo Genes that share compounds with GGCX: view

Transcripts for GGCX Gene

Unigene Clusters for GGCX Gene

Gamma-glutamyl carboxylase:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GGCX Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b · 12c ^
SP1: - -
SP2: - - - - - - - - - - - - - -
SP3:
SP4: - -
SP5: - -
SP6: -
SP7: - -
SP8: -
SP9:
SP10:
SP11: - - - - - - - - - - - - - - - - - - - - - -
SP12: -

ExUns: 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: - - - - -
SP12:

Relevant External Links for GGCX Gene

GeneLoc Exon Structure for
GGCX
ECgene alternative splicing isoforms for
GGCX

Expression for GGCX Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GGCX Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GGCX Gene

This gene is overexpressed in Liver (x6.7).

Protein differential expression in normal tissues from HIPED for GGCX Gene

This gene is overexpressed in Nasal epithelium (34.5), Liver (9.9), and Breast (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GGCX Gene



Protein tissue co-expression partners for GGCX Gene

NURSA nuclear receptor signaling pathways regulating expression of GGCX Gene:

GGCX

SOURCE GeneReport for Unigene cluster for GGCX Gene:

Hs.77719
genes like me logo Genes that share expression patterns with GGCX: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for GGCX Gene

Orthologs for GGCX Gene

This gene was present in the common ancestor of animals.

Orthologs for GGCX Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GGCX 34 35
  • 99.52 (n)
dog
(Canis familiaris)
Mammalia GGCX 34 35
  • 90.33 (n)
cow
(Bos Taurus)
Mammalia GGCX 34 35
  • 88.35 (n)
mouse
(Mus musculus)
Mammalia Ggcx 34 16 35
  • 87.14 (n)
rat
(Rattus norvegicus)
Mammalia Ggcx 34
  • 86.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 83 (a)
OneToMany
-- 35
  • 78 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia GGCX 35
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GGCX 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ggcx 34
  • 67.32 (n)
Str.10139 34
zebrafish
(Danio rerio)
Actinopterygii LOC100537604 34
  • 64.29 (n)
ggcx 35
  • 64 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta GC 36 34 35
  • 53.16 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006363 34
  • 51.38 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 41 (a)
OneToOne
Species where no ortholog for GGCX was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GGCX Gene

ENSEMBL:
Gene Tree for GGCX (if available)
TreeFam:
Gene Tree for GGCX (if available)

Paralogs for GGCX Gene

No data available for Paralogs for GGCX Gene

Variants for GGCX Gene

Sequence variations from dbSNP and Humsavar for GGCX Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs121909675 Combined deficiency of vitamin K-dependent clotting factors 1 (VKCFD1) [MIM:277450], Pathogenic 85,553,045(-) TGGGC(G/T)GTATG nc-transcript-variant, reference, missense
rs121909676 Combined deficiency of vitamin K-dependent clotting factors 1 (VKCFD1) [MIM:277450], Pathogenic 85,551,967(-) CCCTC(A/C/G)TGTGG nc-transcript-variant, reference, missense
rs121909677 Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD) [MIM:610842], Pathogenic 85,553,491(-) TATGT(C/T)CTCCT nc-transcript-variant, reference, missense
rs121909678 Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD) [MIM:610842], Pathogenic 85,551,548(-) TGCAG(A/G)GGGAA nc-transcript-variant, reference, missense
rs121909679 Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD) [MIM:610842], Pathogenic 85,551,943(-) CGCTT(C/G)GTCAC nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for GGCX Gene

Variant ID Type Subtype PubMed ID
nsv2811 CNV insertion 18451855
nsv961801 CNV duplication 23825009

Variation tolerance for GGCX Gene

Residual Variation Intolerance Score: 3.92% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.33; 76.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GGCX Gene

Human Gene Mutation Database (HGMD)
GGCX
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GGCX

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GGCX Gene

Disorders for GGCX Gene

MalaCards: The human disease database

(8) MalaCards diseases for GGCX Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
  • body skin hyperlaxity due to vitamin k-dependent coagulation factor deficiency
vitamin k-dependent clotting factors, combined deficiency of, 1
  • familial multiple coagulation factor deficiency iii
pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
  • pxe-like syndrome with retinitis pigmentosa
hereditary combined deficiency of vitamin k-dependent clotting factors
  • hereditary combined deficiency of factors ii, vii, ix and x
tmem38b-related osteogenesis imperfecta
- elite association - COSMIC cancer census association via MalaCards
Search GGCX in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

VKGC_HUMAN
  • 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: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.
  • 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:0000269 PubMed:17110937}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for GGCX Gene

combined deficiency of all vitamin K-dependent blood coagulation factors

Relevant External Links for GGCX

Genetic Association Database (GAD)
GGCX
Human Genome Epidemiology (HuGE) Navigator
GGCX
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GGCX
genes like me logo Genes that share disorders with GGCX: view

Publications for GGCX Gene

  1. Cloning and expression of the cDNA for human gamma-glutamyl carboxylase. (PMID: 1749935) Wu S.-M. … Stafford D.W. (Science 1991) 2 3 4 22 64
  2. Genetic determinants of acenocoumarol and phenprocoumon maintenance dose requirements. (PMID: 20020283) Cadamuro J. … Oberkofler H. (Eur. J. Clin. Pharmacol. 2010) 3 22 46 64
  3. Genotype polymorphisms of GGCX, NQO1, and VKORC1 genes associated with risk susceptibility in patients with large-artery atherosclerotic stroke. (PMID: 20193673) Shyu H.Y. … Cheng C.W. (Clin. Chim. Acta 2010) 3 22 46 64
  4. A multiplex assay for detecting genetic variations in CYP2C9, VKORC1, and GGCX involved in warfarin metabolism. (PMID: 19233910) Rai A.J. … Fleisher M. (Clin. Chem. 2009) 3 22 46 64
  5. Association of sequence variations in vitamin K epoxide reductase and gamma-glutamyl carboxylase genes with biochemical measures of vitamin K status. (PMID: 19436136) Crosier M.D. … Ordovas J.M. (J. Nutr. Sci. Vitaminol. 2009) 3 22 46 64

Products for GGCX Gene

Sources for GGCX Gene

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