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

    Gene ID: 56316, updated on 2-Nov-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
    Enables gamma-glutamyl carboxylase activity. Involved in peptidyl-glutamic acid carboxylation. Predicted to be active in endoplasmic reticulum membrane. 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, Nov 2024]
    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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    See Ggcx in Genome Data Viewer
    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 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. 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
    2. Fatal hemorrhage in mice lacking gamma-glutamyl carboxylase. Zhu A, et al. Blood, 2007 Jun 15. PMID 17327402, Free PMC Article
    3. 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
    4. γ-Glutamyl carboxylase in osteoblasts regulates glucose metabolism in mice. Shiba S, et al. Biochem Biophys Res Commun, 2014 Oct 24. PMID 25264202
    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)
    • Endonuclease-mediated (2) 
    • Targeted (3)  1 citation

    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 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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in peptidyl-glutamic acid carboxylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in vitamin K metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in vitamin K metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vitamin K metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    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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