Protein in humans
ADAMTS6 |
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Identifiers |
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Aliases | ADAMTS6, ADAM-TS 6, ADAM-TS6, ADAMTS-6, ADAM metallopeptidase with thrombospondin type 1 motif 6 |
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External IDs | OMIM: 605008; MGI: 1347348; HomoloGene: 82573; GeneCards: ADAMTS6; OMA:ADAMTS6 - orthologs |
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Gene location (Human) |
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![Chromosome 5 (human)](//upload.wikimedia.org/wikipedia/commons/thumb/6/61/Ideogram_human_chromosome_5.svg/300px-Ideogram_human_chromosome_5.svg.png) | Chr. | Chromosome 5 (human)[1] |
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| Band | 5q12.3 | Start | 65,148,738 bp[1] |
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End | 65,481,920 bp[1] |
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Gene location (Mouse) |
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![Chromosome 13 (mouse)](//upload.wikimedia.org/wikipedia/commons/thumb/0/04/Ideogram_house_mouse_chromosome_13.svg/260px-Ideogram_house_mouse_chromosome_13.svg.png) | Chr. | Chromosome 13 (mouse)[2] |
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| Band | 13|13 D1 | Start | 104,424,343 bp[2] |
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End | 104,633,203 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - tibia
- Achilles tendon
- gastric mucosa
- stromal cell of endometrium
- testicle
- placenta
- ventricular zone
- right uterine tube
- gonad
- gallbladder
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| Top expressed in | - hand
- ventricular zone
- facial motor nucleus
- vas deferens
- lens
- genital tubercle
- belly cord
- epithelium of lens
- atrium
- foot
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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Molecular function | - peptidase activity
- metalloendopeptidase activity
- hydrolase activity
- metallopeptidase activity
- metal ion binding
| Cellular component | | Biological process | - proteolysis
- cardiac septum development
- heart development
- aorta development
- coronary vasculature development
| Sources:Amigo / QuickGO |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | |
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RefSeq (protein) | | |
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Location (UCSC) | Chr 5: 65.15 – 65.48 Mb | Chr 13: 104.42 – 104.63 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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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.
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.