LOCUS       NP_115605                841 aa            linear   PRI 08-OCT-2024
DEFINITION  SLIT and NTRK-like protein 6 precursor [Homo sapiens].
ACCESSION   NP_115605
VERSION     NP_115605.2
DBSOURCE    REFSEQ: accession 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  (residues 1 to 841)
  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  (residues 1 to 841)
  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  (residues 1 to 841)
  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  (residues 1 to 841)
  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  (residues 1 to 841)
  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  (residues 1 to 841)
  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  (residues 1 to 841)
  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  (residues 1 to 841)
  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  (residues 1 to 841)
  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 (residues 1 to 841)
  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 Dec 19, 2003 this sequence version replaced NP_115605.1.
            
            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##
FEATURES             Location/Qualifiers
     source          1..841
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q31.1"
     Protein         1..841
                     /product="SLIT and NTRK-like protein 6 precursor"
                     /note="4832410J21Rik; SLIT and NTRK-like protein 6; slit
                     and trk like gene 6"
                     /calculated_mol_wt=92140
     sig_peptide     1..26
                     /inference="COORDINATES: ab initio prediction:SignalP:6.0"
                     /calculated_mol_wt=2989
     mat_peptide     27..841
                     /product="SLIT and NTRK-like protein 6.
                     /id=PRO_0000032683"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H5Y7.3)"
                     /calculated_mol_wt=92140
     Region          <68..>213
                     /region_name="LRR"
                     /note="Leucine-rich repeat (LRR) protein [Transcription];
                     COG4886"
                     /db_xref="CDD:443914"
     Region          69..89
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          89..110
                     /region_name="LRR 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H5Y7.3)"
     Region          94..113
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          113..134
                     /region_name="LRR 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H5Y7.3)"
     Region          114..137
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          137..158
                     /region_name="LRR 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H5Y7.3)"
     Region          138..161
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          161..182
                     /region_name="LRR 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H5Y7.3)"
     Region          162..177
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          184..205
                     /region_name="LRR 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H5Y7.3)"
     Region          185..260
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          218..268
                     /region_name="LRRCT"
                     /note="Leucine rich repeat C-terminal domain; smart00082"
                     /db_xref="CDD:214507"
     Region          261..412
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          <363..>517
                     /region_name="LRR"
                     /note="Leucine-rich repeat (LRR) protein [Transcription];
                     COG4886"
                     /db_xref="CDD:443914"
     Region          364..385
                     /region_name="LRR 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H5Y7.3)"
     Region          366..388
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          388..409
                     /region_name="LRR 7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H5Y7.3)"
     Region          412..433
                     /region_name="LRR 8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H5Y7.3)"
     Region          413..436
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          436..457
                     /region_name="LRR 9"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H5Y7.3)"
     Region          437..460
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          460..481
                     /region_name="LRR 10"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H5Y7.3)"
     Region          461..482
                     /region_name="leucine-rich repeat"
                     /note="leucine-rich repeat [structural motif]"
                     /db_xref="CDD:275380"
     Region          483..504
                     /region_name="LRR 11"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H5Y7.3)"
     Region          517..567
                     /region_name="LRRCT"
                     /note="Leucine rich repeat C-terminal domain; smart00082"
                     /db_xref="CDD:214507"
     Site            609..629
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H5Y7.3)"
     CDS             1..841
                     /gene="SLITRK6"
                     /gene_synonym="DFNMYP"
                     /coded_by="NM_032229.3:531..3056"
                     /db_xref="CCDS:CCDS41903.1"
                     /db_xref="GeneID:84189"
                     /db_xref="HGNC:HGNC:23503"
                     /db_xref="MIM:609681"
ORIGIN      
        1 mklwihlfys sllacislhs qtpvlssrgs cdslcnceek dgtmlincea kgikmvseis
       61 vppsrpfqls llnngltmlh tndfsgltna isihlgfnni adieigafng lgllkqlhin
      121 hnsleilked tfhglenlef lqadnnfitv iepsafskln rlkvlilndn aieslppnif
      181 rfvplthldl rgnqlqtlpy vgflehigri ldlqlednkw acncdllqlk twlenmppqs
      241 iigdvvcnsp pffkgsilsr lkkesicptp pvyeehedps gslhlaatss indsrmstkt
      301 tsilklptka pglipyitkp stqlpgpycp ipcnckvlsp sgllihcqer nieslsdlrp
      361 ppqnprklil agniihslmk sdlveyftle mlhlgnnrie vleegsfmnl trlqklylng
      421 nhltklskgm flglhnleyl yleynaikei lpgtfnpmpk lkvlylnnnl lqvlpphifs
      481 gvpltkvnlk tnqfthlpvs nilddldllt qidlednpwd cscdlvglqq wiqklskntv
      541 tddilctspg hldkkelkal nseilcpglv nnpsmptqts ylmvttpatt tntadtilrs
      601 ltdavplsvl ilgllimfit ivfcaagivv lvlhrrrryk kkqvdeqmrd nspvhlqysm
      661 yghktthhtt erpsaslyeq hmvspmvhvy rspsfgpkhl eeeeerneke gsdakhlqrs
      721 lleqenhspl tgsnmkyktt nqsteflsfq dasslyrnil ekerelqqlg iteylrknia
      781 qlqpdmeahy pgaheelklm etlmysrprk vlveqtkney felkanlhae pdylevleqq
      841 t
//
