ADAMTS6

ADAM metallopeptidase with thrombospondin type 1 motif 6 is a protein that in humans is encoded by the ADAMTS6 gene. [5]

ADAMTS6
Identifiers
AliasesADAMTS6, ADAM-TS 6, ADAM-TS6, ADAMTS-6, ADAM metallopeptidase with thrombospondin type 1 motif 6
External IDsOMIM: 605008 MGI: 1347348 HomoloGene: 82573 GeneCards: ADAMTS6
Gene location (Human)
Chr.Chromosome 5 (human)[1]
Band5q12.3Start65,148,738 bp[1]
End65,481,920 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

11174

108154

Ensembl

ENSG00000049192

ENSMUSG00000046169

UniProt

Q9UKP5

D3Z1A5

RefSeq (mRNA)

NM_197941

NM_001081020
NM_175496

RefSeq (protein)

NP_922932

NP_001074489

Location (UCSC)Chr 5: 65.15 – 65.48 MbChr 13: 104.29 – 104.5 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. Expression of this gene may be regulated by the cytokine TNF-alpha.

Mutation in ADAMTS6 causes predisposition to hernias.[6]

References

  1. GRCh38: Ensembl release 89: ENSG00000049192 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000046169 - 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. "Entrez Gene: ADAM metallopeptidase with thrombospondin type 1 motif 6". Retrieved 2017-09-01.
  6. Jorgenson, E.; Makki, N.; Shen, L.; Chen, D. C.; Tian, C.; Eckalbar, W. L.; Hinds, D.; Ahituv, N.; Avins, A. (2015). "A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia - PubMed". Nature Communications. 6: 10130. doi:10.1038/ncomms10130. PMC 4703831. PMID 26686553.

Further reading


This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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