LOCUS       NM_032229               4249 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens SLIT and NTRK like family member 6 (SLITRK6), mRNA.
ACCESSION   NM_032229
VERSION     NM_032229.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4249)
  AUTHORS   Mir,M.A., Pandith,A.A., Mansoor,S., Baba,S.M., Makhdoomi,R.,
            Ain,Q.U., Anwar,I., Para,S.A., Bhat,A.H., Koul,A.M., Manzoor,U.,
            Khan,I., Beg,A. and Wani,M.S.
  TITLE     Differential expression of SLITRK6 gene as a potential therapeutic
            target for urothelial carcinoma in particular upper tract cancer
  JOURNAL   Gene 878, 147583 (2023)
   PUBMED   37353040
  REMARK    GeneRIF: Differential expression of SLITRK6 gene as a potential
            therapeutic target for urothelial carcinoma in particular upper
            tract cancer.
REFERENCE   2  (bases 1 to 4249)
  AUTHORS   Yu,F., Zhao,X., Li,M. and Meng,M.
  TITLE     SLITRK6 promotes the progression of lung adenocarcinoma by
            regulating PI3K/AKT/mTOR signaling and Warburg effect
  JOURNAL   Apoptosis 28 (7-8), 1216-1225 (2023)
   PUBMED   37219677
  REMARK    GeneRIF: SLITRK6 promotes the progression of lung adenocarcinoma by
            regulating PI3K/AKT/mTOR signaling and Warburg effect.
REFERENCE   3  (bases 1 to 4249)
  AUTHORS   Liu,W., Zhang,X., Deng,Z., Li,G., Zhang,R., Yang,Z., Che,F., Liu,S.
            and Li,H.
  TITLE     The role of SLITRK6 in the pathogenesis of Tourette syndrome: From
            the conclusion of a family-based study in the Chinese Han
            population
  JOURNAL   J Gene Med 22 (6), e3173 (2020)
   PUBMED   32037697
  REMARK    GeneRIF: The role of SLITRK6 in the pathogenesis of Tourette
            syndrome: From the conclusion of a family-based study in the
            Chinese Han population.
REFERENCE   4  (bases 1 to 4249)
  AUTHORS   Salime,S., Riahi,Z., Elrharchi,S., Elkhattabi,L., Charoute,H.,
            Nahili,H., Rouba,H., Kabine,M., Bonnet,C., Petit,C. and Barakat,A.
  TITLE     A novel mutation in SLITRK6 causes deafness and myopia in a
            Moroccan family
  JOURNAL   Gene 659, 89-92 (2018)
   PUBMED   29551497
  REMARK    GeneRIF: Analysis of two exons of SLITRK6 gene in a Moroccan family
            identify a novel single deleterious mutation c.696delG,
            p.Trp232Cysfs*10 at homozygous state in the exon 2 of the SLITRK6,
            a gene reported to cause deafness and myopia in various
            populations.
REFERENCE   5  (bases 1 to 4249)
  AUTHORS   Liao,H., Sato,H., Chiba,R., Kawai,T., Nakabayashi,K., Hata,K.,
            Akutsu,H., Fujiwara,S. and Nakamura,H.
  TITLE     Human cytomegalovirus downregulates SLITRK6 expression through IE2
  JOURNAL   J Neurovirol 23 (1), 79-86 (2017)
   PUBMED   27530937
  REMARK    GeneRIF: Human cytomegalovirus downregulates SLITRK6 expression
            through IE2.
REFERENCE   6  (bases 1 to 4249)
  AUTHORS   Tekin,M., Chioza,B.A., Matsumoto,Y., Diaz-Horta,O., Cross,H.E.,
            Duman,D., Kokotas,H., Moore-Barton,H.L., Sakoori,K., Ota,M.,
            Odaka,Y.S., Foster,J. 2nd, Cengiz,F.B., Tokgoz-Yilmaz,S.,
            Tekeli,O., Grigoriadou,M., Petersen,M.B., Sreekantan-Nair,A.,
            Gurtz,K., Xia,X.J., Pandya,A., Patton,M.A., Young,J.I., Aruga,J.
            and Crosby,A.H.
  TITLE     SLITRK6 mutations cause myopia and deafness in humans and mice
  JOURNAL   J Clin Invest 123 (5), 2094-2102 (2013)
   PUBMED   23543054
  REMARK    GeneRIF: SLITRK6 plays a crucial role in the development of normal
            hearing as well as vision in humans and in mice and that its
            disruption leads to a syndrome characterized by severe myopia and
            deafness.
REFERENCE   7  (bases 1 to 4249)
  AUTHORS   Greenwood,T.A. and Kelsoe,J.R.
  CONSRTM   Bipolar Genome Study (BiGS) Consortium
  TITLE     Genome-wide association study of irritable vs. elated mania
            suggests genetic differences between clinical subtypes of bipolar
            disorder
  JOURNAL   PLoS One 8 (1), e53804 (2013)
   PUBMED   23326512
REFERENCE   8  (bases 1 to 4249)
  AUTHORS   Dunham,A., Matthews,L.H., Burton,J., Ashurst,J.L., Howe,K.L.,
            Ashcroft,K.J., Beare,D.M., Burford,D.C., Hunt,S.E.,
            Griffiths-Jones,S., Jones,M.C., Keenan,S.J., Oliver,K., Scott,C.E.,
            Ainscough,R., Almeida,J.P., Ambrose,K.D., Andrews,D.T.,
            Ashwell,R.I., Babbage,A.K., Bagguley,C.L., Bailey,J., Bannerjee,R.,
            Barlow,K.F., Bates,K., Beasley,H., Bird,C.P., Bray-Allen,S.,
            Brown,A.J., Brown,J.Y., Burrill,W., Carder,C., Carter,N.P.,
            Chapman,J.C., Clamp,M.E., Clark,S.Y., Clarke,G., Clee,C.M.,
            Clegg,S.C., Cobley,V., Collins,J.E., Corby,N., Coville,G.J.,
            Deloukas,P., Dhami,P., Dunham,I., Dunn,M., Earthrowl,M.E.,
            Ellington,A.G., Faulkner,L., Frankish,A.G., Frankland,J.,
            French,L., Garner,P., Garnett,J., Gilbert,J.G., Gilson,C.J.,
            Ghori,J., Grafham,D.V., Gribble,S.M., Griffiths,C., Hall,R.E.,
            Hammond,S., Harley,J.L., Hart,E.A., Heath,P.D., Howden,P.J.,
            Huckle,E.J., Hunt,P.J., Hunt,A.R., Johnson,C., Johnson,D., Kay,M.,
            Kimberley,A.M., King,A., Laird,G.K., Langford,C.J., Lawlor,S.,
            Leongamornlert,D.A., Lloyd,D.M., Lloyd,C., Loveland,J.E.,
            Lovell,J., Martin,S., Mashreghi-Mohammadi,M., McLaren,S.J.,
            McMurray,A., Milne,S., Moore,M.J., Nickerson,T., Palmer,S.A.,
            Pearce,A.V., Peck,A.I., Pelan,S., Phillimore,B., Porter,K.M.,
            Rice,C.M., Searle,S., Sehra,H.K., Shownkeen,R., Skuce,C.D.,
            Smith,M., Steward,C.A., Sycamore,N., Tester,J., Thomas,D.W.,
            Tracey,A., Tromans,A., Tubby,B., Wall,M., Wallis,J.M., West,A.P.,
            Whitehead,S.L., Willey,D.L., Wilming,L., Wray,P.W., Wright,M.W.,
            Young,L., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E., Beck,S.,
            Bentley,D.R., Rogers,J. and Ross,M.T.
  TITLE     The DNA sequence and analysis of human chromosome 13
  JOURNAL   Nature 428 (6982), 522-528 (2004)
   PUBMED   15057823
REFERENCE   9  (bases 1 to 4249)
  AUTHORS   Aruga,J., Yokota,N. and Mikoshiba,K.
  TITLE     Human SLITRK family genes: genomic organization and expression
            profiling in normal brain and brain tumor tissue
  JOURNAL   Gene 315, 87-94 (2003)
   PUBMED   14557068
REFERENCE   10 (bases 1 to 4249)
  AUTHORS   Ordonez,J.L. and Tekin,M.
  TITLE     Deafness and Myopia Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   25590127
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL162373.16.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 25, 2018 this sequence version replaced NM_032229.2.
            
            Summary: This gene encodes a member of the SLITRK protein family.
            Members of this family are integral membrane proteins that are
            characterized by two N-terminal leucine-rich repeat (LRR) domains
            and a C-terminal region that shares homology with trk neurotrophin
            receptors. This protein functions as a regulator of neurite
            outgrowth required for normal hearing and vision. Mutations in this
            gene are a cause of myopia and deafness. [provided by RefSeq, Dec
            2014].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.110169.1,
                                           SRR1803615.217780.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000647374.2/ ENSP00000495507.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-506               AL162373.16        7036-7541           c
            507-4249            AL162373.16        912-4654            c
FEATURES             Location/Qualifiers
     source          1..4249
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q31.1"
     gene            1..4249
                     /gene="SLITRK6"
                     /gene_synonym="DFNMYP"
                     /note="SLIT and NTRK like family member 6"
                     /db_xref="GeneID:84189"
                     /db_xref="HGNC:HGNC:23503"
                     /db_xref="MIM:609681"
     exon            1..506
                     /gene="SLITRK6"
                     /gene_synonym="DFNMYP"
                     /inference="alignment:Splign:2.1.0"
     exon            507..4249
                     /gene="SLITRK6"
                     /gene_synonym="DFNMYP"
                     /inference="alignment:Splign:2.1.0"
     CDS             531..3056
                     /gene="SLITRK6"
                     /gene_synonym="DFNMYP"
                     /note="4832410J21Rik; SLIT and NTRK-like protein 6; slit
                     and trk like gene 6"
                     /codon_start=1
                     /product="SLIT and NTRK-like protein 6 precursor"
                     /protein_id="NP_115605.2"
                     /db_xref="CCDS:CCDS41903.1"
                     /db_xref="GeneID:84189"
                     /db_xref="HGNC:HGNC:23503"
                     /db_xref="MIM:609681"
                     /translation="MKLWIHLFYSSLLACISLHSQTPVLSSRGSCDSLCNCEEKDGTM
                     LINCEAKGIKMVSEISVPPSRPFQLSLLNNGLTMLHTNDFSGLTNAISIHLGFNNIAD
                     IEIGAFNGLGLLKQLHINHNSLEILKEDTFHGLENLEFLQADNNFITVIEPSAFSKLN
                     RLKVLILNDNAIESLPPNIFRFVPLTHLDLRGNQLQTLPYVGFLEHIGRILDLQLEDN
                     KWACNCDLLQLKTWLENMPPQSIIGDVVCNSPPFFKGSILSRLKKESICPTPPVYEEH
                     EDPSGSLHLAATSSINDSRMSTKTTSILKLPTKAPGLIPYITKPSTQLPGPYCPIPCN
                     CKVLSPSGLLIHCQERNIESLSDLRPPPQNPRKLILAGNIIHSLMKSDLVEYFTLEML
                     HLGNNRIEVLEEGSFMNLTRLQKLYLNGNHLTKLSKGMFLGLHNLEYLYLEYNAIKEI
                     LPGTFNPMPKLKVLYLNNNLLQVLPPHIFSGVPLTKVNLKTNQFTHLPVSNILDDLDL
                     LTQIDLEDNPWDCSCDLVGLQQWIQKLSKNTVTDDILCTSPGHLDKKELKALNSEILC
                     PGLVNNPSMPTQTSYLMVTTPATTTNTADTILRSLTDAVPLSVLILGLLIMFITIVFC
                     AAGIVVLVLHRRRRYKKKQVDEQMRDNSPVHLQYSMYGHKTTHHTTERPSASLYEQHM
                     VSPMVHVYRSPSFGPKHLEEEEERNEKEGSDAKHLQRSLLEQENHSPLTGSNMKYKTT
                     NQSTEFLSFQDASSLYRNILEKERELQQLGITEYLRKNIAQLQPDMEAHYPGAHEELK
                     LMETLMYSRPRKVLVEQTKNEYFELKANLHAEPDYLEVLEQQT"
     regulatory      3540..3545
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLITRK6"
                     /gene_synonym="DFNMYP"
                     /note="hexamer: AATAAA"
     polyA_site      3562
                     /gene="SLITRK6"
                     /gene_synonym="DFNMYP"
                     /note="major polyA site"
     regulatory      4231..4236
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLITRK6"
                     /gene_synonym="DFNMYP"
                     /note="hexamer: AATAAA"
     polyA_site      4249
                     /gene="SLITRK6"
                     /gene_synonym="DFNMYP"
                     /note="major polyA site"
ORIGIN      
        1 ctctttattt acgcctacct cccagccctt ggcaatctga ctaataacaa actgagctaa
       61 caagaaatac tagaaaagga ggaaggagaa cattgctgta gcttggatct acaacctaag
      121 aaagcaagag tgatcaatct cagctctgtt aaacatcttg tttacttact gcattcagca
      181 gcttgcaaat ggttaactat atgcaaaaaa gtcagcatag ctgtgaagta tgccgtgaat
      241 tttaattgag ggaaaaaggg acaattgctt caggatgctc tagtatgcac tctgcttgaa
      301 atattttcaa tgaaatgctc agtattctat ctttgaccag aggttttaac tttatgaagc
      361 tatgggactt gacaaaaagt gatatttgag aagaaagtac gcagtggttg gtgttttctt
      421 ttttttaata aaggaattga attactttga acacctcttc cagctgtgca ttacagataa
      481 cgtcaggaag agtctctgct ttacagaatc ggatttcatc acatgacaac atgaagctgt
      541 ggattcatct cttttattca tctctccttg cctgtatatc tttacactcc caaactccag
      601 tgctctcatc cagaggctct tgtgattctc tttgcaattg tgaggaaaaa gatggcacaa
      661 tgctaataaa ttgtgaagca aaaggtatca agatggtatc tgaaataagt gtgccaccat
      721 cacgaccttt ccaactaagc ttattaaata acggcttgac gatgcttcac acaaatgact
      781 tttctgggct taccaatgct atttcaatac accttggatt taacaatatt gcagatattg
      841 agataggtgc atttaatggc cttggcctcc tgaaacaact tcatatcaat cacaattctt
      901 tagaaattct taaagaggat actttccatg gactggaaaa cctggaattc ctgcaagcag
      961 ataacaattt tatcacagtg attgaaccaa gtgcctttag caagctcaac agactcaaag
     1021 tgttaatttt aaatgacaat gctattgaga gtcttcctcc aaacatcttc cgatttgttc
     1081 ctttaaccca tctagatctt cgtggaaatc aattacaaac attgccttat gttggttttc
     1141 tcgaacacat tggccgaata ttggatcttc agttggagga caacaaatgg gcctgcaatt
     1201 gtgacttatt gcagttaaaa acttggttgg agaacatgcc tccacagtct ataattggtg
     1261 atgttgtctg caacagccct ccatttttta aaggaagtat actcagtaga ctaaagaagg
     1321 aatctatttg ccctactcca ccagtgtatg aagaacatga ggatccttca ggatcattac
     1381 atctggcagc aacatcttca ataaatgata gtcgcatgtc aactaagacc acgtccattc
     1441 taaaactacc caccaaagca ccaggtttga taccttatat tacaaagcca tccactcaac
     1501 ttccaggacc ttactgccct attccttgta actgcaaagt cctatcccca tcaggacttc
     1561 taatacattg tcaggagcgc aacattgaaa gcttatcaga tctgagacct cctccgcaaa
     1621 atcctagaaa gctcattcta gcgggaaata ttattcacag tttaatgaag tctgatctag
     1681 tggaatattt cactttggaa atgcttcact tgggaaacaa tcgtattgaa gttcttgaag
     1741 aaggatcgtt tatgaaccta acgagattac aaaaactcta tctaaatggt aaccacctga
     1801 ccaaattaag taaaggcatg ttccttggtc tccataatct tgaatactta tatcttgaat
     1861 acaatgccat taaggaaata ctgccaggaa cctttaatcc aatgcctaaa cttaaagtcc
     1921 tgtatttaaa taacaacctc ctccaagttt taccaccaca tattttttca ggggttcctc
     1981 taactaaggt aaatcttaaa acaaaccagt ttacccatct acctgtaagt aatattttgg
     2041 atgatcttga tttgctaacc cagattgacc ttgaggataa cccctgggac tgctcctgtg
     2101 acctggttgg actgcagcaa tggatacaaa agttaagcaa gaacacagtg acagatgaca
     2161 tcctctgcac ttcccccggg catctcgaca aaaaggaatt gaaagcccta aatagtgaaa
     2221 ttctctgtcc aggtttagta aataacccat ccatgccaac acagactagt taccttatgg
     2281 tcaccactcc tgcaacaaca acaaatacgg ctgatactat tttacgatct cttacggacg
     2341 ctgtgccact gtctgttcta atattgggac ttctgattat gttcatcact attgttttct
     2401 gtgctgcagg gatagtggtt cttgttcttc accgcaggag aagatacaaa aagaaacaag
     2461 tagatgagca aatgagagac aacagtcctg tgcatcttca gtacagcatg tatggccata
     2521 aaaccactca tcacactact gaaagaccct ctgcctcact ctatgaacag cacatggtga
     2581 gccccatggt tcatgtctat agaagtccat cctttggtcc aaagcatctg gaagaggaag
     2641 aagagaggaa tgagaaagaa ggaagtgatg caaaacatct ccaaagaagt cttttggaac
     2701 aggaaaatca ttcaccactc acagggtcaa atatgaaata caaaaccacg aaccaatcaa
     2761 cagaattttt atccttccaa gatgccagct cattgtacag aaacatttta gaaaaagaaa
     2821 gggaacttca gcaactggga atcacagaat acctaaggaa aaacattgct cagctccagc
     2881 ctgatatgga ggcacattat cctggagccc acgaagagct gaagttaatg gaaacattaa
     2941 tgtactcacg tccaaggaag gtattagtgg aacagacaaa aaatgagtat tttgaactta
     3001 aagctaattt acatgctgaa cctgactatt tagaagtcct ggagcagcaa acatagatgg
     3061 agagtttgag ggctttcgca gaaatgctgt gattctgttt taagtccata ccttgtaaat
     3121 aagtgcctta cgtgagtgtg tcatcaatca gaacctaagc acagcagtaa actatgggga
     3181 aaaaaaaaga agaagaaaaa gaaactcagg gatcactggg agaagccatg gcattatctt
     3241 caggcaattt agtctgtccc aaataaaata aatccttgca tgtaaatcat tcaaggatta
     3301 tagtaatatt tcatatactg aaaagtgtct cataggagtc ctcttgcaca tctaaaaagg
     3361 ctgaacattt aagtatcccg aattttcttg aattgctttc cctatagatt aattacaatt
     3421 ggatttcatc atttaaaaac catacttgta tatgtagtta taatatgtaa ggaatacatt
     3481 gtttataacc agtatgtact tcaaaaatgt gtattgtcaa acatacctaa ctttcttgca
     3541 ataaatgcaa aagaaactgg aacttgacaa ttataaatag taatagtgaa gaaaaaatag
     3601 aaaggttgca attatatagg ccatgggtgg ctcaaaactt tgaacatttg agcttaaaca
     3661 aatgccactc tcatgcattc taaattaaaa agttaaaatg attaatagtt caggtggaag
     3721 aaataagcat actttttggg ttttctacac attttgtgta gacaatttta atgtcagtgc
     3781 tgctgtgaac taaagtatgt catttatgct caaagtttaa ttcttcttct tgggatattt
     3841 taaaaatgct actgagattc tgctgtaaat atgactagag aatatattgg gtttgcttta
     3901 tttcataggc ttaattcttt gtaaatctga atgaccataa tagaaataca tttcttgtgg
     3961 caagtaattc acagttgtaa agtaaatagg aaaaattatt ttatttttat tgatgtacat
     4021 tgatagatgc cataaatcag tagcaaaagg cacttctaaa ggtaagtggt ttaagttgcc
     4081 tcaagagagg gacaatgtag ctttatttta caagaaggca tagttagatt tctatgaaat
     4141 atttattctg tacagtttta tatagttttg gttcacaaaa gtaattattc ttgggtgcct
     4201 ttcaagaaaa ttaaaaatac tactcactac aataaaacta aaatgaaaa
//
