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Ggcx gamma-glutamyl carboxylase [ Mus musculus (house mouse) ]

Gene ID: 56316, updated on 21-Apr-2024

Summary

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Official Symbol
Ggcxprovided by MGI
Official Full Name
gamma-glutamyl carboxylaseprovided by MGI
Primary source
MGI:MGI:1927655
See related
Ensembl:ENSMUSG00000053460 AllianceGenome:MGI:1927655
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
Predicted to enable gamma-glutamyl carboxylase activity and vitamin binding activity. Predicted to be involved in peptidyl-glutamic acid carboxylation. Predicted to be located in intracellular membrane-bounded organelle. Is expressed in liver. Human ortholog(s) of this gene implicated in combined deficiency of vitamin K-dependent clotting factors 1. Orthologous to human GGCX (gamma-glutamyl carboxylase). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in liver adult (RPKM 17.5), lung adult (RPKM 13.1) and 27 other tissues See more
Orthologs
human all
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Genomic context

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Location:
6 C1; 6 32.27 cM
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (72391262..72407696)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (72414279..72433359)

Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene vesicle-associated membrane protein 5 Neighboring gene predicted gene, 52494 Neighboring gene vesicle-associated membrane protein 8 Neighboring gene STARR-positive B cell enhancer ABC_E10385 Neighboring gene STARR-positive B cell enhancer ABC_E2789 Neighboring gene STARR-positive B cell enhancer ABC_E6440 Neighboring gene methionine adenosyltransferase 2A Neighboring gene promoter of Mat2a antisense radiation induced circulating long non-coding RNA Neighboring gene STARR-seq mESC enhancer starr_16285 Neighboring gene STARR-seq mESC enhancer starr_16286 Neighboring gene STARR-seq mESC enhancer starr_16287 Neighboring gene SH2 domain containing 6

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. γ-Glutamyl carboxylase in osteoblasts regulates glucose metabolism in mice. Shiba S, et al. Biochem Biophys Res Commun, 2014 Oct 24. PMID 25264202
  2. The mineralization phenotype in Abcc6 ( -/- ) mice is affected by Ggcx gene deficiency and genetic background--a model for pseudoxanthoma elasticum. Li Q, et al. J Mol Med (Berl), 2010 Feb. PMID 19784827, Free PMC Article
  3. Fatal hemorrhage in mice lacking gamma-glutamyl carboxylase. Zhu A, et al. Blood, 2007 Jun 15. PMID 17327402, Free PMC Article
  4. Expression and characterization of recombinant vitamin K-dependent gamma-glutamyl carboxylase from an invertebrate, Conus textile. Czerwiec E, et al. Eur J Biochem, 2002 Dec. PMID 12473112
  5. Vitamin K-Dependent γ-Glutamyl Carboxylase in Sertoli Cells Is Essential for Male Fertility in Mice. Shiba S, et al. Mol Cell Biol, 2021 Mar 24. PMID 33526452, Free PMC Article

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. GGCX in osteoblasts functions to prevent abnormal mineralization in bone formation.
    Title: Osteoblast-Specific γ-Glutamyl Carboxylase-Deficient Mice Display Enhanced Bone Formation With Aberrant Mineralization.
  2. findings suggest that GGCX expressed in osteoblasts is critical for the maintenance of blood glucose and WAT
    Title: γ-Glutamyl carboxylase in osteoblasts regulates glucose metabolism in mice.
  3. OCN is gamma-carboxylated by the gamma-carboxylase (GGCX) on three glutamic acid residues, a cellular process requiring reduction of vitamin K by a second enzyme, VKORC1.
    Title: GGCX and VKORC1 inhibit osteocalcin endocrine functions.
  4. Ggcx(Deltaliver/Deltaliver) mice displayed bleeding diathesis.
    Title: Liver-specific γ-glutamyl carboxylase-deficient mice display bleeding diathesis and short life span.
  5. Effect of vitamin K-dependent protein precursor propeptide, vitamin K hydroquinone, and glutamate substrate binding on the structure and function of {gamma}-glutamyl carboxylase.
    Title: Effect of vitamin K-dependent protein precursor propeptide, vitamin K hydroquinone, and glutamate substrate binding on the structure and function of {gamma}-glutamyl carboxylase.
  6. These findings suggest a role for both the GGCX gene and the genetic background as well as dietary factors in modulating the phenotypic severity of Pseudoxanthoma elasticum caused by loss-of-function mutations in ABCC6.
    Title: The mineralization phenotype in Abcc6 ( -/- ) mice is affected by Ggcx gene deficiency and genetic background--a model for pseudoxanthoma elasticum.
  7. Analysis of a Ggcx(+/-) intercross revealed a partial developmental block with only 50% of expected Ggcx(-/-) offspring surviving to term, with the latter animals dying uniformly at birth of massive intra-abdominal hemorrhage
    Title: Fatal hemorrhage in mice lacking gamma-glutamyl carboxylase.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (3)  1 citation
  • Endonuclease-mediated (2) 

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables gamma-glutamyl carboxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables gamma-glutamyl carboxylase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables gamma-glutamyl carboxylase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables gamma-glutamyl carboxylase activity ISO
Inferred from Sequence Orthology
more info
  
enables gamma-glutamyl carboxylase activity ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
enables lyase activity IEA
Inferred from Electronic Annotation
more info
  
enables vitamin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables vitamin binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in peptidyl-glutamic acid carboxylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in peptidyl-glutamic acid carboxylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in vitamin K metabolic process ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
  
is_active_in endoplasmic reticulum membrane ISO
Inferred from Sequence Orthology
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
vitamin K-dependent gamma-carboxylase
Names
peptidyl-glutamate 4-carboxylase
vitamin K gamma glutamyl carboxylase
NP_001398233.1
NP_062776.1
XP_006506479.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001411304.1 → NP_001398233.1  vitamin K-dependent gamma-carboxylase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC116115

  2. NM_019802.6 → NP_062776.1  vitamin K-dependent gamma-carboxylase isoform 1

    See identical proteins and their annotated locations for NP_062776.1

    Status: VALIDATED

    Source sequence(s)
    AC116115
    Consensus CDS
    CCDS20242.1
    UniProtKB/Swiss-Prot
    Q3UXN5, Q8CCB3, Q9QYC7
    UniProtKB/TrEMBL
    B2RS80, Q3TME3
    Related
    ENSMUSP00000070109.8, ENSMUST00000065906.9
    Conserved Domains (2) summary
    smart00752
    Location:56 → 315
    HTTM; Horizontally Transferred TransMembrane Domain
    pfam05090
    Location:66 → 502
    VKG_Carbox; Vitamin K-dependent gamma-carboxylase

RNA

  1. NR_177208.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC116115

  2. NR_177209.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC116115

  3. NR_177210.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC116115

  4. NR_177211.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC116115

  5. NR_177212.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC116115

  6. NR_177213.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC116115

  7. NR_177214.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC116115

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000072.7 Reference GRCm39 C57BL/6J

    Range
    72391262..72407696
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006506416.5 → XP_006506479.1  vitamin K-dependent gamma-carboxylase isoform X2

    See identical proteins and their annotated locations for XP_006506479.1

    Conserved Domains (2) summary
    pfam05090
    Location:8 → 276
    VKG_Carbox; Vitamin K-dependent gamma-carboxylase
    cl40423
    Location:284 → 376
    cupin_RmlC-like; RmlC-like cupin superfamily

RNA

  1. XR_004933611.1 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9QYC7.1 GenPept UniProtKB/Swiss-Prot:Q9QYC7

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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