ADAMTS6

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

ADAMTS6
Identifiers
Aliases	ADAMTS6, ADAM-TS 6, ADAM-TS6, ADAMTS-6, ADAM metallopeptidase with thrombospondin type 1 motif 6
External IDs	OMIM: 605008; MGI: 1347348; HomoloGene: 82573; GeneCards: ADAMTS6; OMA:ADAMTS6 - orthologs
Gene location (Human) Chr. Chromosome 5 (human) Band 5q12.3 Start 65,148,738 bp End 65,481,920 bp
Gene location (Mouse) Chr. Chromosome 13 (mouse) Band 13|13 D1 Start 104,424,343 bp End 104,633,203 bp
RNA expression pattern Bgee Human Mouse (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 umbilical 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 Species Human Mouse 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 Mb Chr 13: 104.42 – 104.63 Mb PubMed search
Wikidata
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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.

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.

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