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GGCX gamma-glutamyl carboxylase [ Homo sapiens (human) ]

Gene ID: 2677, updated on 3-May-2020

Summary

Official Symbol
GGCXprovided by HGNC
Official Full Name
gamma-glutamyl carboxylaseprovided by HGNC
Primary source
HGNC:HGNC:4247
See related
Ensembl:ENSG00000115486 MIM:137167
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
VKCFD1
Summary
This gene encodes an integral membrane protein of the rough endoplasmic reticulum that carboxylates glutamate residues of vitamin K-dependent proteins to gamma carboxyl glutamate, a modification that is required for their activity. The vitamin K-dependent protein substrates have a propeptide that binds the enzyme, with carbon dioxide, dioxide, and reduced vitamin K acting as co-substrates. Vitamin K-dependent proteins affect a number of physiologic processes including blood coagulation, prevention of vascular calcification, and inflammation. Allelic variants of this gene have been associated with pseudoxanthoma elasticum-like disorder with associated multiple coagulation factor deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
Expression
Ubiquitous expression in liver (RPKM 18.5), thyroid (RPKM 16.4) and 25 other tissues See more
Orthologs

Genomic context

See GGCX in Genome Data Viewer
Location:
2p11.2
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (85544720..85561527, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (85771978..85788657, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein SA pseudogene 22 Neighboring gene promoter of MAT2A antisense radiation-induced circulating long non-coding RNA Neighboring gene methionine adenosyltransferase 2A Neighboring gene RNA, 7SL, cytoplasmic 126, pseudogene Neighboring gene vesicle associated membrane protein 8

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ26629

Gene Ontology Provided by GOA

Function Evidence Code Pubs
gamma-glutamyl carboxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
gamma-glutamyl carboxylase activity TAS
Traceable Author Statement
more info
 
vitamin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
blood coagulation TAS
Traceable Author Statement
more info
PubMed 
cellular protein modification process TAS
Traceable Author Statement
more info
PubMed 
peptidyl-glutamic acid carboxylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptidyl-glutamic acid carboxylation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
vitamin K-dependent gamma-carboxylase
Names
peptidyl-glutamate 4-carboxylase
NP_000812.2
NP_001135741.1
NP_001298241.1
XP_005264316.1
XP_011531066.1
XP_011531067.1
XP_016859292.1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_011811.2 RefSeqGene

    Range
    5042..21815
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000821.7NP_000812.2  vitamin K-dependent gamma-carboxylase isoform 1

    See identical proteins and their annotated locations for NP_000812.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC016753, BC013979, BM974022, BQ000150, DC296316
    Consensus CDS
    CCDS1978.1
    UniProtKB/Swiss-Prot
    P38435
    Related
    ENSP00000233838.3, ENST00000233838.9
    Conserved Domains (1) summary
    pfam05090
    Location:66502
    VKG_Carbox; Vitamin K-dependent gamma-carboxylase
  2. NM_001142269.4NP_001135741.1  vitamin K-dependent gamma-carboxylase isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AC016753, AK297397, BC013979, BM974022, BQ000150, DC296316
    Consensus CDS
    CCDS46353.1
    UniProtKB/Swiss-Prot
    P38435
    Related
    ENSP00000408045.3, ENST00000430215.7
    Conserved Domains (2) summary
    smart00752
    Location:15258
    HTTM; Horizontally Transferred TransMembrane Domain
    pfam05090
    Location:15445
    VKG_Carbox; Vitamin K-dependent gamma-carboxylase
  3. NM_001311312.2NP_001298241.1  vitamin K-dependent gamma-carboxylase isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks lacks several exons and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR compared to variant 1. It encodes isoform 3, which is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC016753, BM704752
    Related
    ENSP00000389426.1, ENST00000423570.5
    Conserved Domains (1) summary
    cl02773
    Location:56125
    HTTM; Horizontally Transferred TransMembrane Domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    85544720..85561527 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017003803.2XP_016859292.1  vitamin K-dependent gamma-carboxylase isoform X2

  2. XM_011532765.3XP_011531067.1  vitamin K-dependent gamma-carboxylase isoform X3

    See identical proteins and their annotated locations for XP_011531067.1

    Conserved Domains (1) summary
    pfam05090
    Location:24228
    VKG_Carbox; Vitamin K-dependent gamma-carboxylase
  3. XM_011532764.3XP_011531066.1  vitamin K-dependent gamma-carboxylase isoform X3

    See identical proteins and their annotated locations for XP_011531066.1

    Conserved Domains (1) summary
    pfam05090
    Location:24228
    VKG_Carbox; Vitamin K-dependent gamma-carboxylase
  4. XM_005264259.5XP_005264316.1  vitamin K-dependent gamma-carboxylase isoform X1

    Conserved Domains (2) summary
    smart00752
    Location:56315
    HTTM; Horizontally Transferred TransMembrane Domain
    pfam05090
    Location:66502
    VKG_Carbox; Vitamin K-dependent gamma-carboxylase

RNA

  1. XR_001738703.2 RNA Sequence

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