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

Gene ID: 2677, updated on 6-Jul-2014
Official Symbol
GGCXprovided by HGNC
Official Full Name
gamma-glutamyl carboxylaseprovided by HGNC
Primary source
HGNC:4247
See related
Ensembl:ENSG00000115486; HPRD:00665; MIM:137167; Vega:OTTHUMG00000130173
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 enzyme which catalyzes the posttranslational modification of vitamin K-dependent protein. Many of these vitamin K-dependent proteins are involved in coagulation so the function of the encoded enzyme is essential for hemostasis. Mutations in this gene are associated with vitamin K-dependent coagulation defect and PXE-like disorder with multiple coagulation factor deficiency. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008]
See GGCX in Epigenomics, MapViewer
Location:
2p12
Exon count :
15
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 2 NC_000002.12 (85544855..85561534, 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 uncharacterized LOC100630918 Neighboring gene methionine adenosyltransferase II, alpha Neighboring gene vesicle-associated membrane protein 8 Neighboring gene vesicle-associated membrane protein 5

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
MedGen: C1835813 OMIM: 610842 GeneReviews: Not available
not available
Vitamin k-dependent clotting factors, combined deficiency of, 1
MedGen: C1848534 OMIM: 277450 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
gamma-glutamyl carboxylase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
blood coagulation TAS
Traceable Author Statement
more info
PubMed 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
cellular protein modification process TAS
Traceable Author Statement
more info
PubMed 
peptidyl-glutamic acid carboxylation TAS
Traceable Author Statement
more info
 
post-translational protein modification 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 
Preferred Names
vitamin K-dependent gamma-carboxylase
Names
vitamin K-dependent gamma-carboxylase
peptidyl-glutamate 4-carboxylase
NP_000812.2
NP_001135741.1

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 

    Range
    5001..21680
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000821.5NP_000812.2  vitamin K-dependent gamma-carboxylase isoform 1

    See proteins identical to NP_000812.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC016753, BC013979, BM974022, DC296316
    Consensus CDS
    CCDS1978.1
    UniProtKB/Swiss-Prot
    P38435
    Related
    ENSP00000233838, OTTHUMP00000160676, ENST00000233838, OTTHUMT00000252490
    Conserved Domains (2) summary
    smart00752
    Location:56315
    Blast Score: 802
    HTTM; Horizontally Transferred TransMembrane Domain
    pfam05090
    Location:65504
    Blast Score: 1657
    VKG_Carbox; Vitamin K-dependent gamma-carboxylase
  2. NM_001142269.2NP_001135741.1  vitamin K-dependent gamma-carboxylase isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2).
    Source sequence(s)
    AC016753, AK297397, BC013979, BM974022, DC296316
    Consensus CDS
    CCDS46353.1
    UniProtKB/Swiss-Prot
    P38435
    Conserved Domains (2) summary
    smart00752
    Location:15258
    Blast Score: 736
    HTTM; Horizontally Transferred TransMembrane Domain
    pfam05090
    Location:15447
    Blast Score: 1621
    VKG_Carbox; Vitamin K-dependent gamma-carboxylase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000002.12 

    Range
    85544855..85561534
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005264259.2XP_005264316.1  

    Conserved Domains (2) summary
    smart00752
    Location:56315
    Blast Score: 801
    HTTM; Horizontally Transferred TransMembrane Domain
    pfam05090
    Location:65504
    Blast Score: 1655
    VKG_Carbox; Vitamin K-dependent gamma-carboxylase

Alternate HuRef

Genomic

  1. AC_000134.1 

    Range
    85669320..85686004
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 

    Range
    85701785..85718463
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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