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Ggcx
Gene Detail
Symbol

Name
ID
Ggcx
gamma-glutamyl carboxylase
MGI:1927655
Synonyms
vitamin K-dependent carboxylase
Feature Type
protein coding gene
Genetic Map
Chromosome 6
32.27 cM, cytoband C3
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr6:72414308-72430712 bp, + strand
From VEGA annotation of GRCm38

  16405 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:639  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: GGCX
Protein SuperFamily: vitamin K-dependent gamma-carboxylase
Gene Tree: Ggcx

Human
homologs
GGCX, gamma-glutamyl carboxylase
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 2677
neXtProt AC: NX_P38435

Human Synonyms: VKCFD1

Human Chr (Location): 2p12; chr2:85544855-85561534 (-)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human GGCX

Mutations,
alleles, and
phenotypes
All mutations/alleles(8) : Gene trapped(1) Spontaneous(1) Targeted(5) Transgenic(1)
Genomic Mutations involving Ggcx (1)
Incidental mutations (data from Mutagenetix , CvDC )
 
Approximately 50% of embryos homozygous for a knock-out allele die between E9.5 and E18 while those surviving to term die of massive intra-abdominal hemorrhage shortly after birth with no evidence of ectopic calcification.
 
Interactions
Ggcx interacts with 78 markers (Mir7-2, Mir7b, Mir10a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (9 annotations)
Process peptidyl-glutamic acid carboxylation
Component endoplasmic reticulum, integral component of membrane, ...
Function gamma-glutamyl carboxylase activity, lyase activity, ...
External Resources: FuncBase
Expression
cDNA source data(9)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase ggcx ; ZFIN ggcx    NEW 
Molecular
reagents
All nucleic(11) Genomic(1) cDNA(9) Primer pair(1)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000026391 (Evidence)
Ensembl Gene Model ENSMUSG00000053460 (Evidence)
Entrez Gene 56316 (Evidence)
DFCI TC1599770, TC1578618
NIA Mouse Gene Index U007037
EC 4.1.1.90
Consensus CDS Project CCDS20242.1
International Mouse Phenotyping Consortium Status Ggcx
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000026391 VEGA Gene Model | MGI Sequence Detail 16405 C57BL/6J ±  kb
transcript OTTMUST00000065266 VEGA | MGI Sequence Detail 2929 Not Applicable 
polypeptide OTTMUSP00000032504 VEGA | MGI Sequence Detail 757 Not Applicable 

For the selected sequences
All sequences(49) RefSeq(18) UniProt(4)
Polymorphisms
SNPs within 2kb(133 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR011020 HTTM
InterPro IPR011051 RmlC-like cupin domain
InterPro IPR014710 RmlC-like jelly roll fold
InterPro IPR007782 Vitamin K-dependent gamma-carboxylase
Protein Ontology PR:000007956 vitamin K-dependent gamma-carboxylase
References
(Earliest) J:65775 Begley GS, et al., A conserved motif within the vitamin K-dependent carboxylase gene is widely distributed across animal phyla. J Biol Chem. 2000 Nov 17;275(46):36245-9
(Latest) J:212951 Azuma K, et al., Liver-specific gamma-glutamyl carboxylase-deficient mice display bleeding diathesis and short life span. PLoS One. 2014;9(2):e88643
All references(31)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory