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Aliases for GGCX Gene

Aliases for GGCX Gene

  • Gamma-Glutamyl Carboxylase 2 3 4
  • 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 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]

GeneCards Summary for GGCX Gene

GGCX (Gamma-Glutamyl Carboxylase) is a Protein Coding gene. Diseases associated with GGCX include vitamin k-dependent clotting factors, combined deficiency of, 1 and pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency. Among its related pathways are PTM- gamma carboxylation, hypusine formation and arylsulfatase activation and Metabolism. 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

Genomic Location for GGCX Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for GGCX Gene at MOPED

Post-translational modifications for GGCX Gene

  • Ubiquitination at Lys91 and Lys334
  • Glycosylation at Asn459 and Asn550
  • Modification sites at PhosphoSitePlus

Other Protein References for GGCX Gene

Antibody Products

No data available for DME Specific Peptides for GGCX Gene

Domains 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 :
  • P38435
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 --
genes like me logo Genes that share ontologies with GGCX: view
genes like me logo Genes that share phenotypes with GGCX: view

Animal Models for GGCX Gene

MGI Knock Outs for GGCX:

Animal Model Products

miRNA for GGCX Gene

miRTarBase miRNAs that target GGCX

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GGCX

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting 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 5
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 --
genes like me logo Genes that share ontologies with GGCX: view

Pathways 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 TAS --
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with GGCX: view

Compounds for GGCX Gene

(5) HMDB Compounds for GGCX Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
L-Glutamic acid
  • (2S)-2-Aminopentanedioate
56-86-0
Menadione
  • Vitamin K3: 1,4-Dihydro-1,4-dioxo-2-methylnaphthalene
58-27-5
Reduced Vitamin K (phylloquinone)
  • vitamin K hydroquinone (phylloquinone)
81382-12-9
Vitamin K1 2,3-epoxide
  • (2,3-Epoxyphytyl)menaquinone
25486-55-9

(7) Drugbank Compounds for GGCX Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Anisindione
117-37-3 target inhibitor
Coagulation Factor IX
  • Christmas factor
9001-28-9 target
Coagulation factor VIIa
  • Coagulation factor VII precursor
9001-25-6 target
Drotrecogin alfa
  • Anticoagulant protein C
60202-16-6 target
L-Glutamic Acid
  • (2S)-2-Aminopentanedioic acid
56-86-0 target

(13) Novoseek inferred chemical compound relationships for GGCX Gene

Compound -log(P) Hits PubMed IDs
vitamin k epoxide 95.8 15
vitamin k hydroquinone 93 1
gamma-carboxyglutamic acid 92.3 8
warfarin 72.1 21
vitamin k2 69.1 3

(1) PharmGKB related drug/compound annotations for GGCX Gene

Drug/compound Annotation
warfarin CA
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GGCX

Primer 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 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 (6.7).

Protein differential expression in normal tissues for GGCX Gene

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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GGCX Gene

SOURCE GeneReport for Unigene cluster for GGCX Gene Hs.77719

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

Expression partners for GGCX Gene

In Situ Assay 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
cow
(Bos Taurus)
Mammalia GGCX 35
  • 88.35 (n)
  • 89.84 (a)
GGCX 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GGCX 35
  • 90.33 (n)
  • 91.69 (a)
GGCX 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ggcx 35
  • 87.14 (n)
  • 89.56 (a)
Ggcx 16
Ggcx 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GGCX 35
  • 99.52 (n)
  • 99.21 (a)
GGCX 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ggcx 35
  • 86.81 (n)
  • 88.13 (a)
oppossum
(Monodelphis domestica)
Mammalia GGCX 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 78 (a)
OneToMany
-- 36
  • 83 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia GGCX 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ggcx 35
  • 67.32 (n)
  • 71.65 (a)
Str.10139 35
zebrafish
(Danio rerio)
Actinopterygii LOC100537604 35
  • 64.29 (n)
  • 67.51 (a)
ggcx 36
  • 64 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta GC 37
  • 42 (a)
GC 35
  • 53.16 (n)
  • 45.26 (a)
GC 36
  • 39 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006363 35
  • 51.38 (n)
  • 48.27 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToOne
Species with no ortholog for GGCX:
  • 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 MAF
rs699664 - 85,553,413(-) CCCCC(A/G)AAGGT missense, reference
rs762684 -- 85,554,900(-) ATGAC(C/T)TCCGT intron-variant
rs1254896 -- 85,554,195(+) AACAG(C/G/T)CCAAT synonymous-codon, reference
rs1254897 -- 85,559,433(+) GGAgg(C/G)caggc intron-variant
rs1254898 -- 85,561,017(+) GTGTG(C/T)GGGGG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv2811 CNV Insertion 18451855

Relevant External Links for GGCX Gene

HapMap Linkage Disequilibrium report
GGCX
Human Gene Mutation Database (HGMD)
GGCX

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

Disorders for GGCX Gene

(2) OMIM Diseases for GGCX Gene (137167)

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.

(2) University of Copenhagen DISEASES for GGCX Gene

(4) Novoseek inferred disease relationships for GGCX Gene

Disease -log(P) Hits PubMed IDs
coagulopathy 43.2 3
urolithiasis 41 3
herpes simplex 27.8 3
calcification 9.31 2

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
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 23
  2. Genomic sequence and transcription start site for the human gamma- glutamyl carboxylase. (PMID: 9166845) Wu S.-M. … Solera J. (Blood 1997) 3 4 23
  3. A novel fluorescence assay to study propeptide interaction with gamma-glutamyl carboxylase. (PMID: 11570873) Presnell S.R. … Stafford D.W. (Biochemistry 2001) 3 4 23
  4. Determination of disulfide bond assignment of human vitamin K- dependent gamma-glutamyl carboxylase by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. (PMID: 12963724) Tie J.K. … Stafford D.W. (J. Biol. Chem. 2003) 3 4 23
  5. Compound heterozygous mutations in the gamma-glutamyl carboxylase gene cause combined deficiency of all vitamin K-dependent blood coagulation factors. (PMID: 15287948) Rost S. … Oldenburg J. (Br. J. Haematol. 2004) 3 4 23

Products for GGCX Gene

Sources for GGCX Gene

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