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; GeneCards: ADAMTS6
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; development of the heart; aorta development; coronary vasculature development;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	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.

Gene

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family.

Structure

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.

Clinical significance

Mutation in ADAMTS6 causes predisposition to hernias.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000049192 – Ensembl, May 2017
1 2 3 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 DC, Tian C, Eckalbar WL, et al. (December 2015). "A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia". Nature Communications. 6 (1) 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, et al. (2008). "Identification of NR5A1 (SF-1/AD4BP) gene expression modulators by large-scale gain and loss of function studies". The Journal of Endocrinology. 198 (3): 489–497. 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". Molecular Medicine. 16 (7–8). Cambridge, Mass.: 247–253. 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 adding missing information.

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

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000049192 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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 DC, Tian C, Eckalbar WL, et al. (December 2015). "A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia". Nature Communications. 6 (1) 10130. doi:10.1038/ncomms10130. PMC 4703831. PMID 26686553.

ADAMTS6

Gene

Structure

Clinical significance

References

Further reading