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

Summary

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, Dec 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

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_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
Ggcx(Deltaliver/Deltaliver) mice displayed bleeding diathesis.
Title: Liver-specific γ-glutamyl carboxylase-deficient mice display bleeding diathesis and short life span.
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.
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.
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.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Ggcx (e-PCR), detects polymorphism
- UniSTS:527358

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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein maturation	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	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
is_active_in endoplasmic reticulum lumen	IDA Inferred from Direct Assay more info	PubMed
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

EC 4.1.1.90

NP_062776.1

EC 4.1.1.90

XP_006506479.1

EC 4.1.1.90

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)

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

Status: VALIDATED

Source sequence(s)

AC116115

UniProtKB/TrEMBL

Q3TME3
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

NR_177208.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC116115
NR_177209.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC116115
NR_177210.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC116115
NR_177211.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC116115
NR_177212.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC116115
NR_177213.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC116115
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

NC_000072.7 Reference GRCm39 C57BL/6J

Range

72391262..72407696

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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