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Protein

Matrix Gla protein

Gene

MGP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Associates with the organic matrix of bone and cartilage. Thought to act as an inhibitor of bone formation.

GO - Molecular functioni

  • calcium ion binding Source: InterPro
  • extracellular matrix structural constituent Source: ProtInc
  • structural constituent of bone Source: ProtInc

GO - Biological processi

  • cartilage condensation Source: ProtInc
  • cell differentiation Source: UniProtKB-KW
  • ossification Source: ProtInc
  • regulation of bone mineralization Source: InterPro

Keywordsi

Molecular functionDevelopmental protein
Biological processChondrogenesis, Differentiation, Osteogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
Matrix Gla protein
Short name:
MGP
Alternative name(s):
Cell growth-inhibiting gene 36 protein
Gene namesi
Name:MGP
Synonyms:MGLAP
ORF Names:GIG36
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000111341.9.
HGNCiHGNC:7060. MGP.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Keutel syndrome (KTLS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by abnormal cartilage calcification, peripheral pulmonary stenosis neural hearing loss and midfacial hypoplasia.
See also OMIM:245150

Keywords - Diseasei

Deafness

Organism-specific databases

DisGeNETi4256.
MalaCardsiMGP.
MIMi245150. phenotype.
OpenTargetsiENSG00000111341.
Orphaneti85202. Keutel syndrome.
PharmGKBiPA30790.

Polymorphism and mutation databases

BioMutaiMGP.
DMDMi118572668.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 19Add BLAST19
ChainiPRO_000001110920 – 96Matrix Gla proteinAdd BLAST77
PropeptideiPRO_000001111097 – 103Removed in mature form; probably by carboxypeptidase N7

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei214-carboxyglutamatePROSITE-ProRule annotationBy similarity1
Modified residuei22Phosphoserine1 Publication1
Modified residuei25Phosphoserine1 Publication1
Modified residuei28Phosphoserine1 Publication1
Modified residuei564-carboxyglutamatePROSITE-ProRule annotationBy similarity1
Modified residuei604-carboxyglutamatePROSITE-ProRule annotationBy similarity1
Modified residuei674-carboxyglutamatePROSITE-ProRule annotationBy similarity1
Modified residuei714-carboxyglutamatePROSITE-ProRule annotationBy similarity1
Disulfide bondi73 ↔ 79PROSITE-ProRule annotation

Post-translational modificationi

Requires vitamin K-dependent gamma-carboxylation for its function.

Keywords - PTMi

Disulfide bond, Gamma-carboxyglutamic acid, Phosphoprotein

Proteomic databases

MaxQBiP08493.
PeptideAtlasiP08493.
PRIDEiP08493.

PTM databases

iPTMnetiP08493.
PhosphoSitePlusiP08493.

Expressioni

Gene expression databases

BgeeiENSG00000111341.
CleanExiHS_MGP.
ExpressionAtlasiP08493. baseline and differential.
GenevisibleiP08493. HS.

Organism-specific databases

HPAiHPA013949.

Interactioni

Protein-protein interaction databases

BioGridi110412. 1 interactor.
IntActiP08493. 1 interactor.

Structurei

3D structure databases

ProteinModelPortaliP08493.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini51 – 97GlaPROSITE-ProRule annotationAdd BLAST47

Sequence similaritiesi

Keywords - Domaini

Signal

Phylogenomic databases

GeneTreeiENSGT00390000003753.
HOGENOMiHOG000113581.
HOVERGENiHBG006353.
InParanoidiP08493.
KOiK19481.
OMAiPFLNRRN.
OrthoDBiEOG091G0XPC.
PhylomeDBiP08493.
TreeFamiTF330920.

Family and domain databases

InterProiView protein in InterPro
IPR000294. GLA_domain.
IPR027118. MGP.
IPR002384. Osteocalcin/MGP.
PANTHERiPTHR10109. PTHR10109. 1 hit.
PRINTSiPR00002. GLABONE.
SMARTiView protein in SMART
SM00069. GLA. 1 hit.
SUPFAMiSSF57630. SSF57630. 1 hit.
PROSITEiView protein in PROSITE
PS00011. GLA_1. 1 hit.
PS50998. GLA_2. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P08493-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MKSLILLAIL AALAVVTLCY ESHESMESYE LNPFINRRNA NTFISPQQRW
60 70 80 90 100
RAKVQERIRE RSKPVHELNR EACDDYRLCE RYAMVYGYNA AYNRYFRKRR

GTK
Length:103
Mass (Da):12,353
Last modified:November 28, 2006 - v2
Checksum:i243968D715D54549
GO
Isoform 2 (identifier: P08493-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     20-20: Y → YGEWQKEENFGFDIVSVLSLNWHRAQ

Note: Gene prediction based on EST data.
Show »
Length:128
Mass (Da):15,325
Checksum:iEC1C9523BC0836E6
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti20Y → C in AAH93078 (PubMed:15489334).Curated1
Sequence conflicti51R → G in CAG29354 (Ref. 6) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01617753K → E. Corresponds to variant dbSNP:rs1801716Ensembl.1
Natural variantiVAR_016178102T → A7 PublicationsCorresponds to variant dbSNP:rs4236Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04699920Y → YGEWQKEENFGFDIVSVLSL NWHRAQ in isoform 2. Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M58549 mRNA. Translation: AAB53766.1.
M55270 Genomic DNA. Translation: AAB53765.1.
X07362 mRNA. Translation: CAA30287.1.
X53331 mRNA. Translation: CAA37418.1.
AY542304 mRNA. Translation: AAT08173.1.
BT006733 mRNA. Translation: AAP35379.1.
CR450358 mRNA. Translation: CAG29354.1.
AK312029 mRNA. Translation: BAG34966.1.
DQ004248 Genomic DNA. Translation: AAY16978.1.
AC007655 Genomic DNA. No translation available.
CH471094 Genomic DNA. Translation: EAW96333.1.
BC005272 mRNA. Translation: AAH05272.1.
BC070314 mRNA. Translation: AAH70314.1.
BC093078 mRNA. Translation: AAH93078.1.
CCDSiCCDS53752.1. [P08493-2]
CCDS8669.1. [P08493-1]
PIRiA35811. GEHUM.
RefSeqiNP_000891.2. NM_000900.4. [P08493-1]
NP_001177768.1. NM_001190839.2. [P08493-2]
UniGeneiHs.365706.

Genome annotation databases

EnsembliENST00000228938; ENSP00000228938; ENSG00000111341. [P08493-2]
ENST00000539261; ENSP00000445907; ENSG00000111341. [P08493-1]
GeneIDi4256.
KEGGihsa:4256.
UCSCiuc001rcn.3. human. [P08493-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMGP_HUMAN
AccessioniPrimary (citable) accession number: P08493
Secondary accession number(s): A0M8W5
, B2R519, J3KMX7, Q2TU41, Q567P9, Q6ICN5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1988
Last sequence update: November 28, 2006
Last modified: September 27, 2017
This is version 177 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families