SLITRK6 (original) (raw)

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Protein-coding gene in the species Homo sapiens

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)Chromosome 13 (human)Chr.Chromosome 13 (human)[1]Chromosome 13 (human)Genomic location for SLITRK6Genomic location for SLITRK6Band13q31.1Start85,792,790 bp[1]End85,806,683 bp[1]
Gene location (Mouse)Chromosome 14 (mouse)Chr.Chromosome 14 (mouse)[2]Chromosome 14 (mouse)Genomic location for SLITRK6Genomic location for SLITRK6Band14|14 E3Start110,986,012 bp[2]End110,992,581 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed inbronchial epithelial cellurethramucosa of ileumnasal epitheliumskin of armurinary bladdertracheaminor salivary glandsmucosa of paranasal sinusjejunal mucosaTop expressed inotolith organutriclevestibular sensory epitheliummaxillary prominencemedial dorsal nucleusislet of Langerhansotic vesicleskin of facegenital tuberclemigratory enteric neural crest cellMore reference expression dataBioGPSMore reference expression data
OrthologsSpeciesHuman MouseEntrez84189239250EnsemblENSG00000184564ENSMUSG00000045871UniProtQ9H5Y7Q8C110RefSeq (mRNA)NM_032229NM_175499RefSeq (protein)NP_115605NP_780708Location (UCSC)Chr 13: 85.79 – 85.81 MbChr 14: 110.99 – 110.99 MbPubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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

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

The protein is the target for the antibody-drug conjugate ASG-15ME which is in phase 1 clinical trials for urothelial cancer.[8]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000184564 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b 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. ^ a b "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.