SLITRK6

SLITRK6
Identifiers
Aliases	SLITRK6 , DFNMYP, SLIT and NTRK like family member 6
External IDs	OMIM: 609681; MGI: 2443198; HomoloGene: 12986; GeneCards: SLITRK6; OMA:SLITRK6 - orthologs
Gene location (Human) Chr. Chromosome 13 (human) [1] Band 13q31.1 Start 85,792,790 bp [1] End 85,806,683 bp [1]
Gene location (Mouse) Chr. Chromosome 14 (mouse) [2] Band 14|14 E3 Start 110,986,012 bp [2] End 110,992,581 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in bronchial epithelial cell urethra mucosa of ileum nasal epithelium skin of arm urinary bladder trachea minor salivary glands mucosa of paranasal sinus jejunal mucosa Top expressed in otolith organ utricle vestibular sensory epithelium maxillary prominence medial dorsal nucleus islet of Langerhans otic vesicle skin of face genital tubercle migratory enteric neural crest cell More reference expression data BioGPS More reference expression data
Orthologs Species Human Mouse Entrez 84189 239250 Ensembl ENSG00000184564 ENSMUSG00000045871 UniProt Q9H5Y7 Q8C110 RefSeq (mRNA) NM_032229 NM_175499 RefSeq (protein) NP_115605 NP_780708 Location (UCSC) Chr 13: 85.79 – 85.81 Mb Chr 14: 110.99 – 110.99 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

SLIT and NTRK-like protein 6 is a protein that in humans is encoded by the SLITRK6 gene. ^{[5] [6]}

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. ^{[5] [6]}

Clinical significance

Mutations in SLITRK6 cause high myopia and deafness in humans and mice. ^[7]

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. ^[8]

References

1. GRCh38: Ensembl release 89: ENSG00000184564 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000045871 – 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.
5. Aruga J, Yokota N, Mikoshiba K (Oct 2003). "Human SLITRK family genes: genomic organization and expression profiling in normal brain and brain tumor tissue". Gene. 315: 87–94. doi:10.1016/S0378-1119(03)00715-7. PMID   14557068.
6. "Entrez Gene: SLITRK6 SLIT and NTRK-like family, member 6".
7. 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 (2013). "SLITRK6 mutations cause myopia and deafness in humans and mice". J. Clin. Invest. 123 (5): 2094–102. doi:10.1172/JCI65853. PMC   3635725 . PMID   23543054.
8. Seattle Genetics and Agensys, an Affiliate of Astellas (October 2016). "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". Poster Abstract #788P, European Society for Medical Oncology (ESMO) Congress, Copenhagen.

Further reading

• Hartley JL, Temple GF, Brasch MA (2001). "DNA Cloning Using In Vitro Site-Specific Recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC   310948 . PMID   11076863.
• 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 (2001). "Toward a Catalog of Human Genes and Proteins: Sequencing and Analysis of 500 Novel Complete Protein Coding Human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC   311072 . PMID   11230166.
• Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A (2004). "From ORFeome to Biology: A Functional Genomics Pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC   528930 . PMID   15489336.
• 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 (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC   1347501 . PMID   16381901.