ADAMTS6

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)
End	65,481,920 bp
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	104,633,203 bp
RNA expression pattern
	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
	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
	11174
	108154
	ENSG00000049192
	ENSMUSG00000046169
	Q9UKP5
	D3Z1A5
	NM_197941; NM_014273
	NM_001081020; NM_175496
	NP_922932
	NP_001074489
	Wikidata
View/Edit Human	View/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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000049192 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000046169 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: ADAM metallopeptidase with thrombospondin type 1 motif 6". Retrieved 2017-09-01.
^ 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.

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 on a gene on human chromosome 5 is a stub. You can help Wikipedia by expanding it.

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

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000049192 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[entrez-5] "Entrez Gene: ADAM metallopeptidase with thrombospondin type 1 motif 6". Retrieved 2017-09-01.

[urlA_genome-wide_association_study_identifies_four_novel_susceptibility_loci_underlying_inguinal_hernia_-_PubMed-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.

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Function

References

Further reading