ADAMTS6

Protein in humans
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; OMA:ADAMTS6 - orthologs
Gene location (Human)
Chromosome 5 (human)
Chr.Chromosome 5 (human)[1]
Chromosome 5 (human)
Genomic location for ADAMTS6
Genomic location for ADAMTS6
Band5q12.3Start65,148,738 bp[1]
End65,481,920 bp[1]
Gene location (Mouse)
Chromosome 13 (mouse)
Chr.Chromosome 13 (mouse)[2]
Chromosome 13 (mouse)
Genomic location for ADAMTS6
Genomic location for ADAMTS6
Band13|13 D1Start104,424,343 bp[2]
End104,633,203 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • tibia

  • Achilles tendon

  • gastric mucosa

  • stromal cell of endometrium

  • testicle

  • placenta

  • ventricular zone

  • right uterine tube

  • gonad

  • gallbladder
Top expressed in
  • hand

  • ventricular zone

  • facial motor nucleus

  • vas deferens

  • lens

  • genital tubercle

  • belly cord

  • epithelium of lens

  • atrium

  • foot
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • peptidase activity
  • metalloendopeptidase activity
  • hydrolase activity
  • metallopeptidase activity
  • metal ion binding
Cellular component
  • extracellular region
Biological process
  • proteolysis
  • cardiac septum development
  • heart development
  • aorta development
  • coronary vasculature development
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

11174

108154

Ensembl

ENSG00000049192

ENSMUSG00000046169

UniProt

Q9UKP5

D3Z1A5

RefSeq (mRNA)

NM_197941
NM_014273

NM_001081020
NM_175496

RefSeq (protein)

NP_922932

NP_001074489

Location (UCSC)Chr 5: 65.15 – 65.48 MbChr 13: 104.42 – 104.63 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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. ^ a b c GRCh38: Ensembl release 89: ENSG00000049192 – Ensembl, May 2017
  2. ^ a b c 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

  • Bevitt DJ, Li Z, Lindrop JL, Barker MD, Clarke MP, McKie N (2005). "Analysis of full length ADAMTS6 transcript reveals alternative splicing and a role for the 5' untranslated region in translational control". Gene. 359: 99–110. doi:10.1016/j.gene.2005.06.011. PMID 16129570.
  • Sakai N, Terami H, Suzuki S, Haga M, Nomoto K, Tsuchida N, Morohashi K, Saito N, Asada M, Hashimoto M, Harada D, Asahara H, Ishikawa T, Shimada F, Sakurada K (2008). "Identification of NR5A1 (SF-1/AD4BP) gene expression modulators by large-scale gain and loss of function studies". J. Endocrinol. 198 (3): 489–97. doi:10.1677/JOE-08-0027. PMID 18579725.
  • Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR (2010). "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score". Mol. Med. 16 (7–8): 247–53. doi:10.2119/molmed.2009.00159. PMC 2896464. PMID 20379614.


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