Ggcx MGI Mouse Gene Detail - MGI:1927655 - gamma-glutamyl carboxylase

Symbol

Ggcx
Name

gamma-glutamyl carboxylase
Synonyms

vitamin K-dependent carboxylase

Feature Type

protein coding gene
IDs

MGI:1927655
NCBI Gene: 56316
Alliance

gene page
Transcription Start Sites

4 TSS

Sequence Map

Chr6:72391291-72407695 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 6, 32.27 cM, cytoband C3
Mapping Data

2 experiments

SNPs within 2kb

133 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1927655	protein coding gene	Chr6:72391262-72407696 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0030876	protein coding gene	Chr6:72966943-72983338 (+)
A/J	MGP_AJ_G0030846	protein coding gene	Chr6:70136824-70153294 (+)
AKR/J	MGP_AKRJ_G0030775	protein coding gene	Chr6:72201823-72218295 (+)
BALB/cJ	MGP_BALBcJ_G0030857	protein coding gene	Chr6:70164375-70180761 (+)
C3H/HeJ	MGP_C3HHeJ_G0030855	protein coding gene	Chr6:112022783-112039232 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0031315	protein coding gene	Chr6:74881572-74897976 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0028504	protein coding gene	Chr6:69282184-69299420 (+)
CAST/EiJ	MGP_CASTEiJ_G0029965	protein coding gene	Chr6:72064622-72083843 (+)
CBA/J	MGP_CBAJ_G0030544	protein coding gene	Chr6:77931932-77948456 (+)
DBA/2J	MGP_DBA2J_G0030696	protein coding gene	Chr6:69530916-69547825 (+)
FVB/NJ	MGP_FVBNJ_G0030649	protein coding gene	Chr6:68922167-68938580 (+)
LP/J	MGP_LPJ_G0030775	protein coding gene	Chr6:72874793-72891197 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0030684	protein coding gene	Chr6:81327192-81343399 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0031341	protein coding gene	Chr6:72015166-72031632 (+)
PWK/PhJ	MGP_PWKPhJ_G0029681	protein coding gene	Chr6:68438030-68454803 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0029509	protein coding gene	Chr6:70740881-70757222 (+)
WSB/EiJ	MGP_WSBEiJ_G0030047	protein coding gene	Chr6:72379534-72395874 (+)

Human Ortholog

GGCX, gamma-glutamyl carboxylase

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

GGCX, gamma-glutamyl carboxylase
Synonyms

VKCFD1
Links

HGNC:4247

NCBI Gene ID: 2677

neXtProt AC: NX_P38435

UniProt: P38435
Chr Location

2p11.2; chr2:85544720-85561532 (-) GRCh38

MGI Vertebrate Homology

Ggcx stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: GGCX
Gene Tree

Ggcx

Diseases

1 with human GGCX associations

				Human Disease	Mouse Models
				combined deficiency of vitamin K-dependent clotting factors 1 IDs combined deficiency of vitamin K-dependent clotting factors 1 DOID:0112173 MESH:C564741 OMIM:277450 UMLS_CUI:C1848534

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

43 phenotypes from 3 alleles in 5 genetic backgrounds
2 phenotypes from multigenic genotypes
20 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

11
Endonuclease-mediated

2
Gene trapped

1
Spontaneous

1
Targeted

6
Transgenic

1
Genomic Mutations

1 involving Ggcx
Incidental Mutations

Mutagenetix , CvDC
Find Mice (IMSR)

37 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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.

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All GO Annotations

19
GO References

9

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

748
Tissues

5
cDNA Data

9
Literature Summary

1

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ggcx

ZFIN ggcx

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All Sequences

67
RefSeq

14
UniProt

8
CCDS

CCDS20242.1

Ensembl

ENSMUSG00000053460 (Evidence)
NCBI Gene

56316

			Length	Strain/Species	Flank
genomic	ENSMUSG00000053460	Ensembl Gene Model \| MGI Sequence Detail	16405	C57BL/6J	± kb
transcript	ENSMUST00000065906	Ensembl \| MGI Sequence Detail	2929	Not Applicable
polypeptide	ENSMUSP00000070109	Ensembl \| MGI Sequence Detail	757	Not Applicable

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UniProt

8 Sequences
Protein Ontology

PR:000007956 vitamin K-dependent gamma-carboxylase

(term hierarchy)
EC

4.1.1.90
InterPro Domains

IPR011020 HTTM

IPR011051 RmlC-like cupin domain superfamily

IPR007782 Vitamin K-dependent gamma-carboxylase
GlyGen

Q9QYC7 4 sites, 2 N-linked glycans (2 sites), 1 O-linked glycan (2 sites)

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All nucleic 13

Genomic 2

cDNA 9

Primer pair 2

Microarray probesets 4

Summaries

All 46

Developmental Gene Expression 1

Gene Ontology 9

Phenotypes 20
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:337581 Lacombe J, et al., Vitamin K-dependent carboxylation regulates Ca(2+) flux and adaptation to metabolic stress in beta cells. Cell Rep. 2023 May 30;42(5):112500

TSS for Ggcx:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr57131	Chr6:72391284-72391302 (+)	2 bp
Tssr57132	Chr6:72391306-72391335 (+)	30 bp
Tssr57133	Chr6:72391336-72391371 (+)	63 bp
Tssr1889	Chr6:72407413-72407430 (+)	16,131 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24