SLITRK6
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
SLIT and NTRK-like protein 6 is a protein that in humans is encoded by the SLITRK6 gene.{{cite journal | vauthors = Aruga J, Yokota N, Mikoshiba K | title = Human SLITRK family genes: genomic organization and expression profiling in normal brain and brain tumor tissue | journal = Gene | volume = 315 | pages = 87–94 | date = Oct 2003 | pmid = 14557068 | doi = 10.1016/S0378-1119(03)00715-7 }}
Function
Members of the SLITRK family, such as SLITRK6, are integral membrane proteins with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLIT proteins (see SLIT1). Most SLITRKs, including SLITRK6, also have C-terminal regions that share homology with neurotrophin receptors (see NTRK1). SLITRKs are expressed predominantly in neural tissues and have neurite-modulating activity.{{cite web | title = Entrez Gene: SLITRK6 SLIT and NTRK-like family, member 6| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=84189}}
Clinical significance
Mutations in SLITRK6 cause high myopia and deafness in humans and mice.{{cite journal | vauthors = Tekin M, Chioza BA, Matsumoto Y, Diaz-Horta O, Cross HE, Duman D, Kokotas H, Moore-Barton HL, Sakoori K, Ota M, Odaka YS, Foster J, Cengiz FB, Tokgoz-Yilmaz S, Tekeli O, Grigoriadou M, Petersen MB, Sreekantan-Nair A, Gurtz K, Xia XJ, Pandya A, Patton MA, Young JI, Aruga J, Crosby AH | title = SLITRK6 mutations cause myopia and deafness in humans and mice | journal = J. Clin. Invest. | volume = 123 | issue = 5 | pages = 2094–102 | year = 2013 | pmid = 23543054 | pmc = 3635725 | doi = 10.1172/JCI65853 }}
As a drug target
The protein is the target for the antibody-drug conjugate ASG-15ME which is in phase 1 clinical trials for urothelial cancer.{{cite web | url = http://www.businesswire.com/news/home/20161007005357/en/Seattle-Genetics-Agensys-Affiliate-Astellas-Highlight-Promising | title = Interim Analysis of a Phase 1 Dose Escalation Trial of ASG-22CE (ASG-22ME; enfortumab vedotin), an Antibody-Drug Conjugate (ADC) in Patients with Metastatic Urothelial Cancer | work = Poster Abstract #788P, European Society for Medical Oncology (ESMO) Congress, Copenhagen | date = October 2016 | author = Seattle Genetics and Agensys, an Affiliate of Astellas }}
References
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Further reading
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- {{cite journal | vauthors = Hartley JL, Temple GF, Brasch MA | title = DNA Cloning Using In Vitro Site-Specific Recombination | journal = Genome Res. | volume = 10 | issue = 11 | pages = 1788–95 | year = 2001 | pmid = 11076863 | pmc = 310948 | doi = 10.1101/gr.143000 }}
- {{cite journal | vauthors = Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Böcher M, Blöcker H, Bauersachs S, Blum H, Lauber J, Düsterhöft A, Beyer A, Köhrer K, Strack N, Mewes HW, Ottenwälder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A | title = Toward a Catalog of Human Genes and Proteins: Sequencing and Analysis of 500 Novel Complete Protein Coding Human cDNAs | journal = Genome Res. | volume = 11 | issue = 3 | pages = 422–35 | year = 2001 | pmid = 11230166 | pmc = 311072 | doi = 10.1101/gr.GR1547R }}
- {{cite journal | vauthors = Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A | title = From ORFeome to Biology: A Functional Genomics Pipeline | journal = Genome Res. | volume = 14 | issue = 10B | pages = 2136–44 | year = 2004 | pmid = 15489336 | pmc = 528930 | doi = 10.1101/gr.2576704 }}
- {{cite journal | vauthors = Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, Bechtel S, Simpson J, Hofmann O, Hide W, Glatting KH, Huber W, Pepperkok R, Poustka A, Wiemann S | title = The LIFEdb database in 2006 | journal = Nucleic Acids Res. | volume = 34 | issue = Database issue | pages = D415–8 | year = 2006 | pmid = 16381901 | pmc = 1347501 | doi = 10.1093/nar/gkj139 }}
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