Matrix Gla protein

MGP
Identifiers
AliasesMGP, MGLAP, NTI, GIG36, matrix Gla protein
External IDsOMIM: 154870; MGI: 96976; HomoloGene: 693; GeneCards: MGP; OMA:MGP - orthologs
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for MGP
Genomic location for MGP
Band12p12.3Start14,880,864 bp[1]
End14,885,857 bp[1]
Gene location (Mouse)
Chromosome 6 (mouse)
Chr.Chromosome 6 (mouse)[2]
Chromosome 6 (mouse)
Genomic location for MGP
Genomic location for MGP
Band6|6 G1Start136,849,433 bp[2]
End136,852,821 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • Descending thoracic aorta

  • ascending aorta

  • right coronary artery

  • left coronary artery

  • tibial arteries

  • left uterine tube

  • lactiferous duct

  • pericardium

  • saphenous vein

  • Achilles tendon
Top expressed in
  • tunica media of zone of aorta

  • right lung lobe

  • gastrula

  • aortic valve

  • carotid body

  • left lung

  • calvaria

  • ascending aorta

  • left lung lobe

  • superior surface of tongue
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • calcium ion binding
  • extracellular matrix structural constituent
  • protein binding
  • structural constituent of bone
Cellular component
  • extracellular matrix
  • extracellular region
  • extracellular exosome
  • collagen-containing extracellular matrix
Biological process
  • multicellular organism development
  • cell differentiation
  • cartilage development
  • cartilage condensation
  • ossification
  • regulation of bone mineralization
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

4256

17313

Ensembl

ENSG00000111341

ENSMUSG00000030218

UniProt

P08493

P19788

RefSeq (mRNA)

NM_001190839
NM_000900

NM_008597

RefSeq (protein)

NP_000891
NP_001177768

NP_032623

Location (UCSC)Chr 12: 14.88 – 14.89 MbChr 6: 136.85 – 136.85 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Matrix Gla protein (MGP) is member of a family of vitamin K2 dependent, Gla-containing proteins. MGP has a high affinity binding to calcium ions, similar to other Gla-containing proteins. The protein acts as an inhibitor of vascular mineralization and plays a role in bone organization.[5][6]

MGP is found in a number of body tissues in mammals, birds, and fish. Its mRNA is present in bone, cartilage, heart, and kidney.[7]

It is present in bone together with the related vitamin K2-dependent protein osteocalcin. In bone, its production is increased by vitamin D.

Genetics

The MGP was linked to the short arm of chromosome 12 in 1990.[8] Its mRNA sequence length is 585 bases long in humans.[9]

Physiology

MGP and osteocalcin are both calcium-binding proteins that may participate in the organisation of bone tissue. Both have glutamate residues that are post-translationally carboxylated by the enzyme gamma-glutamyl carboxylase in a reaction that requires Vitamin K hydroquinone.

Role in disease

Abnormalities in the MGP gene have been linked with Keutel syndrome, a rare condition characterised by abnormal calcium deposition in cartilage, peripheral stenosis of the pulmonary artery, and midfacial hypoplasia.[10]

Mice that lack MGP develop to term but die within two months as a result of arterial calcification which leads to blood-vessel rupture.[6]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000111341 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030218 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Yao Y, Jumabay M, Ly A, Radparvar M, Cubberly MR, Boström KI (2013). "A role for the endothelium in vascular calcification". Circ. Res. 113 (5): 495–504. doi:10.1161/CIRCRESAHA.113.301792. PMC 3851028. PMID 23852538.
  6. ^ a b Luo G, Ducy P, McKee MD, Pinero GJ, Loyer E, Behringer RR, Karsenty G (March 1997). "Spontaneous calcification of arteries and cartilage in mice lacking matrix GLA protein". Nature. 386 (6620): 78–81. Bibcode:1997Natur.386...78L. doi:10.1038/386078a0. PMID 9052783. S2CID 4335985.
  7. ^ Pinto JP, Conceição N, Gavaia PJ, Cancela ML (2003). "Matrix Gla protein gene expression and protein accumulation colocalize with cartilage distribution during development of the teleost fish Sparus aurata". Bone. 32 (3): 201–10. doi:10.1016/S8756-3282(02)00981-X. PMID 12667547.
  8. ^ Cancela L, Hsieh CL, Francke U, Price PA (1990). "Molecular structure, chromosome assignment, and promoter organization of the human matrix Gla protein gene". J. Biol. Chem. 265 (25): 15040–8. doi:10.1016/S0021-9258(18)77221-9. PMID 2394711.
  9. ^ "Sequence: M58549.1 : Human matrix Gla protein (MGP) mRNA, complete cds". European Nucleotide Archive. European Bioinformatics Institute.
  10. ^ Munroe PB, Olgunturk RO, Fryns JP, Van Maldergem L, Ziereisen F, Yuksel B, Gardiner RM, Chung E (1999). "Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome". Nat. Genet. 21 (1): 142–4. doi:10.1038/5102. PMID 9916809. S2CID 1244954.

External links

  • v
  • t
  • e
Extracellular
matrix
Collagen
Fibril forming
Other
Enzymes
Laminin
Other
Other


Stub icon

This article on a gene on human chromosome 12 is a stub. You can help Wikipedia by expanding it.

  • v
  • t
  • e