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MGP matrix Gla protein [ Homo sapiens (human) ]

Gene ID: 4256, updated on 22-Dec-2014
Official Symbol
MGPprovided by HGNC
Official Full Name
matrix Gla proteinprovided by HGNC
Primary source
HGNC:HGNC:7060
Locus tag
GIG36
See related
Ensembl:ENSG00000111341; HPRD:01112; MIM:154870; Vega:OTTHUMG00000168740
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
NTI; GIG36; MGLAP
Summary
The protein encoded by this gene is secreted and likely acts as an inhibitor of bone formation. The encoded protein is found in the organic matrix of bone and cartilage. Defects in this gene are a cause of Keutel syndrome (KS). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
Location:
12p12.3
Exon count:
5
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 12 NC_000012.12 (14881181..14885919, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (15034115..15038853, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene chromosome 12 open reading frame 60 Neighboring gene single-pass membrane protein with coiled-coil domains 3 Neighboring gene ADP-ribosyltransferase 4 (Dombrock blood group) Neighboring gene endoplasmic reticulum protein 27 Neighboring gene Rho GDP dissociation inhibitor (GDI) beta

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix structural constituent TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of bone TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cartilage condensation TAS
Traceable Author Statement
more info
PubMed 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
ossification IEA
Inferred from Electronic Annotation
more info
 
regulation of bone mineralization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
colocalizes_with extracellular matrix IDA
Inferred from Direct Assay
more info
PubMed 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
proteinaceous extracellular matrix TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
matrix Gla protein
Names
matrix Gla protein
cell growth-inhibiting gene 36 protein

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_023331.1 

    Range
    5001..9739
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000900.3NP_000891.2  matrix Gla protein isoform 2 precursor

    See proteins identical to NP_000891.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    BC093078, CB108937, N85639
    Consensus CDS
    CCDS8669.1
    UniProtKB/TrEMBL
    A0A024RAX0
    UniProtKB/Swiss-Prot
    P08493
    Related
    ENSP00000445907, OTTHUMP00000239335, ENST00000539261, OTTHUMT00000400864
    Conserved Domains (1) summary
    cl02449
    Location:3296
    Gla; Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain
  2. NM_001190839.1NP_001177768.1  matrix Gla protein isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC007655, BC093078, BF699158, N85639
    Consensus CDS
    CCDS53752.1
    UniProtKB/Swiss-Prot
    P08493
    Conserved Domains (1) summary
    smart00069
    Location:57121
    GLA; Domain containing Gla (gamma-carboxyglutamate) residues

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_000012.12 

    Range
    14881181..14885919
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 

    Range
    15000196..15004934
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000144.1 

    Range
    14803571..14808309
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)