SLIK6_HUMAN
ID SLIK6_HUMAN Reviewed; 841 AA.
AC Q9H5Y7; A8K9S8; Q495Q0; Q6AW93; Q9HAA8; Q9NT60;
DT 13-APR-2004, integrated into UniProtKB/Swiss-Prot.
DT 15-FEB-2005, sequence version 3.
DT 03-AUG-2022, entry version 165.
DE RecName: Full=SLIT and NTRK-like protein 6;
DE Flags: Precursor;
GN Name=SLITRK6;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606 {ECO:0000312|EMBL:BAB13941.1};
RN [1] {ECO:0000305}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Embryo, Ileal mucosa, and Trachea;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Fetal brain, and Fetal kidney;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057823; DOI=10.1038/nature02379;
RA Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L.,
RA Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S.,
RA Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P.,
RA Ambrose K.D., Andrews D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L.,
RA Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P.,
RA Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P.,
RA Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C.,
RA Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P.,
RA Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L.,
RA Frankish A.G., Frankland J., French L., Garner P., Garnett J.,
RA Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M.,
RA Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D.,
RA Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D.,
RA Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S.,
RA Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S.,
RA Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R.,
RA Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W.,
RA Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P.,
RA Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L.,
RA Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R.,
RA Rogers J., Ross M.T.;
RT "The DNA sequence and analysis of human chromosome 13.";
RL Nature 428:522-528(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6] {ECO:0000305}
RP IDENTIFICATION, AND TISSUE SPECIFICITY.
RC TISSUE=Brain {ECO:0000269|PubMed:14557068}, and
RC Brain tumor {ECO:0000269|PubMed:14557068};
RX PubMed=14557068; DOI=10.1016/s0378-1119(03)00715-7;
RA Aruga J., Yokota N., Mikoshiba K.;
RT "Human SLITRK family genes: genomic organization and expression profiling
RT in normal brain and brain tumor tissue.";
RL Gene 315:87-94(2003).
RN [7]
RP INVOLVEMENT IN DFNMYP, SUBCELLULAR LOCATION, AND FUNCTION.
RX PubMed=23543054; DOI=10.1172/jci65853;
RA Tekin M., Chioza B.A., Matsumoto Y., Diaz-Horta O., Cross H.E., Duman D.,
RA Kokotas H., Moore-Barton H.L., Sakoori K., Ota M., Odaka Y.S.,
RA Foster J. II, Cengiz F.B., Tokgoz-Yilmaz S., Tekeli O., Grigoriadou M.,
RA Petersen M.B., Sreekantan-Nair A., Gurtz K., Xia X.J., Pandya A.,
RA Patton M.A., Young J.I., Aruga J., Crosby A.H.;
RT "SLITRK6 mutations cause myopia and deafness in humans and mice.";
RL J. Clin. Invest. 123:2094-2102(2013).
RN [8]
RP INVOLVEMENT IN DFNMYP, AND SUBCELLULAR LOCATION.
RX PubMed=23946138; DOI=10.1002/lary.24361;
RA Morlet T., Rabinowitz M.R., Looney L.R., Riegner T., Greenwood L.A.,
RA Sherman E.A., Achilly N., Zhu A., Yoo E., O'Reilly R.C., Jinks R.N.,
RA Puffenberger E.G., Heaps A., Morton H., Strauss K.A.;
RT "A homozygous SLITRK6 nonsense mutation is associated with progressive
RT auditory neuropathy in humans.";
RL Laryngoscope 124:E95-E103(2014).
CC -!- FUNCTION: Regulator of neurite outgrowth required for normal hearing
CC and vision. {ECO:0000269|PubMed:23543054}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23543054,
CC ECO:0000269|PubMed:23946138}; Single-pass type I membrane protein
CC {ECO:0000269|PubMed:23543054, ECO:0000269|PubMed:23946138}.
CC -!- TISSUE SPECIFICITY: In adult brain, highly expressed in putamen with no
CC expression in cerebral cortex. Expressed in adult and fetal lung and
CC fetal liver. Also expressed at high levels in some brain tumors
CC including medulloblastomas and primitive neuroectodermal tumors.
CC {ECO:0000269|PubMed:14557068}.
CC -!- DISEASE: Deafness and myopia (DFNMYP) [MIM:221200]: An autosomal
CC recessive disorder characterized by prelingual sensorineural hearing
CC loss associated with high myopia. {ECO:0000269|PubMed:23543054,
CC ECO:0000269|PubMed:23946138}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the SLITRK family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB13941.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAB13941.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};
CC Sequence=BAB15480.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAB15480.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AK021931; BAB13941.1; ALT_SEQ; mRNA.
DR EMBL; AK026427; BAB15480.1; ALT_SEQ; mRNA.
DR EMBL; AK292793; BAF85482.1; -; mRNA.
DR EMBL; AL137517; CAB70783.3; -; mRNA.
DR EMBL; BX648640; CAH10557.1; -; mRNA.
DR EMBL; AL162373; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471093; EAW80611.1; -; Genomic_DNA.
DR EMBL; BC101070; AAI01071.1; -; mRNA.
DR EMBL; BC101071; AAI01072.1; -; mRNA.
DR EMBL; BC101072; AAI01073.1; -; mRNA.
DR EMBL; BC101073; AAI01074.1; -; mRNA.
DR CCDS; CCDS41903.1; -.
DR PIR; T46279; T46279.
DR RefSeq; NP_115605.2; NM_032229.2.
DR AlphaFoldDB; Q9H5Y7; -.
DR SMR; Q9H5Y7; -.
DR BioGRID; 123937; 11.
DR IntAct; Q9H5Y7; 24.
DR STRING; 9606.ENSP00000383143; -.
DR GlyGen; Q9H5Y7; 1 site.
DR iPTMnet; Q9H5Y7; -.
DR PhosphoSitePlus; Q9H5Y7; -.
DR BioMuta; SLITRK6; -.
DR DMDM; 59803110; -.
DR EPD; Q9H5Y7; -.
DR jPOST; Q9H5Y7; -.
DR MassIVE; Q9H5Y7; -.
DR MaxQB; Q9H5Y7; -.
DR PaxDb; Q9H5Y7; -.
DR PeptideAtlas; Q9H5Y7; -.
DR PRIDE; Q9H5Y7; -.
DR ProteomicsDB; 80941; -.
DR ABCD; Q9H5Y7; 1 sequenced antibody.
DR Antibodypedia; 24756; 269 antibodies from 31 providers.
DR DNASU; 84189; -.
DR Ensembl; ENST00000643778.1; ENSP00000496428.1; ENSG00000184564.11.
DR Ensembl; ENST00000647374.2; ENSP00000495507.1; ENSG00000184564.11.
DR GeneID; 84189; -.
DR KEGG; hsa:84189; -.
DR MANE-Select; ENST00000647374.2; ENSP00000495507.1; NM_032229.3; NP_115605.2.
DR UCSC; uc001vll.2; human.
DR CTD; 84189; -.
DR DisGeNET; 84189; -.
DR GeneCards; SLITRK6; -.
DR GeneReviews; SLITRK6; -.
DR HGNC; HGNC:23503; SLITRK6.
DR HPA; ENSG00000184564; Tissue enhanced (salivary gland, urinary bladder).
DR MalaCards; SLITRK6; -.
DR MIM; 221200; phenotype.
DR MIM; 609681; gene.
DR neXtProt; NX_Q9H5Y7; -.
DR OpenTargets; ENSG00000184564; -.
DR Orphanet; 90636; Autosomal recessive non-syndromic sensorineural deafness type DFNB.
DR Orphanet; 363396; High myopia-sensorineural deafness syndrome.
DR PharmGKB; PA134928433; -.
DR VEuPathDB; HostDB:ENSG00000184564; -.
DR eggNOG; ENOG502QZTX; Eukaryota.
DR GeneTree; ENSGT00940000160718; -.
DR HOGENOM; CLU_012706_1_0_1; -.
DR InParanoid; Q9H5Y7; -.
DR OMA; RNPTYCS; -.
DR OrthoDB; 217854at2759; -.
DR PhylomeDB; Q9H5Y7; -.
DR TreeFam; TF326378; -.
DR PathwayCommons; Q9H5Y7; -.
DR Reactome; R-HSA-388844; Receptor-type tyrosine-protein phosphatases.
DR SignaLink; Q9H5Y7; -.
DR BioGRID-ORCS; 84189; 11 hits in 1065 CRISPR screens.
DR GeneWiki; SLITRK6; -.
DR GenomeRNAi; 84189; -.
DR Pharos; Q9H5Y7; Tbio.
DR PRO; PR:Q9H5Y7; -.
DR Proteomes; UP000005640; Chromosome 13.
DR RNAct; Q9H5Y7; protein.
DR Bgee; ENSG00000184564; Expressed in bronchial epithelial cell and 142 other tissues.
DR Genevisible; Q9H5Y7; HS.
DR GO; GO:0009986; C:cell surface; IDA:MGI.
DR GO; GO:0005887; C:integral component of plasma membrane; IDA:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; IDA:HPA.
DR GO; GO:0008344; P:adult locomotory behavior; IEA:Ensembl.
DR GO; GO:0031223; P:auditory behavior; IEA:Ensembl.
DR GO; GO:0002093; P:auditory receptor cell morphogenesis; IEA:Ensembl.
DR GO; GO:0007409; P:axonogenesis; IBA:GO_Central.
DR GO; GO:0090102; P:cochlea development; IEA:Ensembl.
DR GO; GO:0060384; P:innervation; IEA:Ensembl.
DR GO; GO:0002088; P:lens development in camera-type eye; IEA:Ensembl.
DR GO; GO:0060007; P:linear vestibuloocular reflex; IEA:Ensembl.
DR GO; GO:0035264; P:multicellular organism growth; IEA:Ensembl.
DR GO; GO:0051965; P:positive regulation of synapse assembly; IBA:GO_Central.
DR GO; GO:1905606; P:regulation of presynapse assembly; IEA:InterPro.
DR GO; GO:0007605; P:sensory perception of sound; IEA:UniProtKB-KW.
DR GO; GO:0001964; P:startle response; IEA:Ensembl.
DR GO; GO:0007416; P:synapse assembly; IMP:MGI.
DR GO; GO:0021562; P:vestibulocochlear nerve development; IEA:Ensembl.
DR GO; GO:0007601; P:visual perception; IEA:UniProtKB-KW.
DR Gene3D; 3.80.10.10; -; 2.
DR InterPro; IPR000483; Cys-rich_flank_reg_C.
DR InterPro; IPR001611; Leu-rich_rpt.
DR InterPro; IPR003591; Leu-rich_rpt_typical-subtyp.
DR InterPro; IPR032675; LRR_dom_sf.
DR InterPro; IPR043326; Slitrk.
DR PANTHER; PTHR45773; PTHR45773; 1.
DR Pfam; PF13855; LRR_8; 2.
DR SMART; SM00369; LRR_TYP; 9.
DR SMART; SM00082; LRRCT; 2.
DR PROSITE; PS51450; LRR; 9.
PE 2: Evidence at transcript level;
KW Cell membrane; Deafness; Hearing; Leucine-rich repeat; Membrane;
KW Reference proteome; Repeat; Sensory transduction; Signal; Transmembrane;
KW Transmembrane helix; Vision.
FT SIGNAL 1..26
FT /evidence="ECO:0000255"
FT CHAIN 27..841
FT /note="SLIT and NTRK-like protein 6"
FT /id="PRO_0000032683"
FT TOPO_DOM 27..608
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 609..629
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 630..841
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 27..67
FT /note="LRRNT 1"
FT REPEAT 89..110
FT /note="LRR 1"
FT REPEAT 113..134
FT /note="LRR 2"
FT REPEAT 137..158
FT /note="LRR 3"
FT REPEAT 161..182
FT /note="LRR 4"
FT REPEAT 184..205
FT /note="LRR 5"
FT DOMAIN 218..269
FT /note="LRRCT 1"
FT DOMAIN 320..361
FT /note="LRRNT 2"
FT REPEAT 364..385
FT /note="LRR 6"
FT REPEAT 388..409
FT /note="LRR 7"
FT REPEAT 412..433
FT /note="LRR 8"
FT REPEAT 436..457
FT /note="LRR 9"
FT REPEAT 460..481
FT /note="LRR 10"
FT REPEAT 483..504
FT /note="LRR 11"
FT DOMAIN 517..568
FT /note="LRRCT 2"
FT VARIANT 25
FT /note="L -> F (in dbSNP:rs12863734)"
FT /id="VAR_027758"
FT VARIANT 315
FT /note="P -> R (in dbSNP:rs9547378)"
FT /id="VAR_027759"
FT VARIANT 414
FT /note="Q -> R (in dbSNP:rs17080147)"
FT /id="VAR_027760"
SQ SEQUENCE 841 AA; 95110 MW; 53B0D9293D53B9B5 CRC64;
MKLWIHLFYS SLLACISLHS QTPVLSSRGS CDSLCNCEEK DGTMLINCEA KGIKMVSEIS
VPPSRPFQLS LLNNGLTMLH TNDFSGLTNA ISIHLGFNNI ADIEIGAFNG LGLLKQLHIN
HNSLEILKED TFHGLENLEF LQADNNFITV IEPSAFSKLN RLKVLILNDN AIESLPPNIF
RFVPLTHLDL RGNQLQTLPY VGFLEHIGRI LDLQLEDNKW ACNCDLLQLK TWLENMPPQS
IIGDVVCNSP PFFKGSILSR LKKESICPTP PVYEEHEDPS GSLHLAATSS INDSRMSTKT
TSILKLPTKA PGLIPYITKP STQLPGPYCP IPCNCKVLSP SGLLIHCQER NIESLSDLRP
PPQNPRKLIL AGNIIHSLMK SDLVEYFTLE MLHLGNNRIE VLEEGSFMNL TRLQKLYLNG
NHLTKLSKGM FLGLHNLEYL YLEYNAIKEI LPGTFNPMPK LKVLYLNNNL LQVLPPHIFS
GVPLTKVNLK TNQFTHLPVS NILDDLDLLT QIDLEDNPWD CSCDLVGLQQ WIQKLSKNTV
TDDILCTSPG HLDKKELKAL NSEILCPGLV NNPSMPTQTS YLMVTTPATT TNTADTILRS
LTDAVPLSVL ILGLLIMFIT IVFCAAGIVV LVLHRRRRYK KKQVDEQMRD NSPVHLQYSM
YGHKTTHHTT ERPSASLYEQ HMVSPMVHVY RSPSFGPKHL EEEEERNEKE GSDAKHLQRS
LLEQENHSPL TGSNMKYKTT NQSTEFLSFQ DASSLYRNIL EKERELQQLG ITEYLRKNIA
QLQPDMEAHY PGAHEELKLM ETLMYSRPRK VLVEQTKNEY FELKANLHAE PDYLEVLEQQ
T
