LOCUS       NM_001198671            3980 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens TLC domain containing 5 (TLCD5), transcript variant 3,
            mRNA.
ACCESSION   NM_001198671
VERSION     NM_001198671.2
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 3980)
  AUTHORS   Aung,T., Ozaki,M., Lee,M.C., Schlotzer-Schrehardt,U.,
            Thorleifsson,G., Mizoguchi,T., Igo,R.P. Jr., Haripriya,A.,
            Williams,S.E., Astakhov,Y.S., Orr,A.C., Burdon,K.P., Nakano,S.,
            Mori,K., Abu-Amero,K., Hauser,M., Li,Z., Prakadeeswari,G.,
            Bailey,J.N.C., Cherecheanu,A.P., Kang,J.H., Nelson,S., Hayashi,K.,
            Manabe,S.I., Kazama,S., Zarnowski,T., Inoue,K., Irkec,M.,
            Coca-Prados,M., Sugiyama,K., Jarvela,I., Schlottmann,P.,
            Lerner,S.F., Lamari,H., Nilgun,Y., Bikbov,M., Park,K.H., Cha,S.C.,
            Yamashiro,K., Zenteno,J.C., Jonas,J.B., Kumar,R.S., Perera,S.A.,
            Chan,A.S.Y., Kobakhidze,N., George,R., Vijaya,L., Do,T.,
            Edward,D.P., de Juan Marcos,L., Pakravan,M., Moghimi,S., Ideta,R.,
            Bach-Holm,D., Kappelgaard,P., Wirostko,B., Thomas,S., Gaston,D.,
            Bedard,K., Greer,W.L., Yang,Z., Chen,X., Huang,L., Sang,J., Jia,H.,
            Jia,L., Qiao,C., Zhang,H., Liu,X., Zhao,B., Wang,Y.X., Xu,L.,
            Leruez,S., Reynier,P., Chichua,G., Tabagari,S., Uebe,S., Zenkel,M.,
            Berner,D., Mossbock,G., Weisschuh,N., Hoja,U., Welge-Luessen,U.C.,
            Mardin,C., Founti,P., Chatzikyriakidou,A., Pappas,T.,
            Anastasopoulos,E., Lambropoulos,A., Ghosh,A., Shetty,R.,
            Porporato,N., Saravanan,V., Venkatesh,R., Shivkumar,C., Kalpana,N.,
            Sarangapani,S., Kanavi,M.R., Beni,A.N., Yazdani,S., Lashay,A.,
            Naderifar,H., Khatibi,N., Fea,A., Lavia,C., Dallorto,L., Rolle,T.,
            Frezzotti,P., Paoli,D., Salvi,E., Manunta,P., Mori,Y., Miyata,K.,
            Higashide,T., Chihara,E., Ishiko,S., Yoshida,A., Yanagi,M.,
            Kiuchi,Y., Ohashi,T., Sakurai,T., Sugimoto,T., Chuman,H.,
            Aihara,M., Inatani,M., Miyake,M., Gotoh,N., Matsuda,F.,
            Yoshimura,N., Ikeda,Y., Ueno,M., Sotozono,C., Jeoung,J.W.,
            Sagong,M., Park,K.H., Ahn,J., Cruz-Aguilar,M., Ezzouhairi,S.M.,
            Rafei,A., Chong,Y.F., Ng,X.Y., Goh,S.R., Chen,Y., Yong,V.H.K.,
            Khan,M.I., Olawoye,O.O., Ashaye,A.O., Ugbede,I., Onakoya,A.,
            Kizor-Akaraiwe,N., Teekhasaenee,C., Suwan,Y., Supakontanasan,W.,
            Okeke,S., Uche,N.J., Asimadu,I., Ayub,H., Akhtar,F.,
            Kosior-Jarecka,E., Lukasik,U., Lischinsky,I., Castro,V.,
            Grossmann,R.P., Sunaric Megevand,G., Roy,S., Dervan,E., Silke,E.,
            Rao,A., Sahay,P., Fornero,P., Cuello,O., Sivori,D., Zompa,T.,
            Mills,R.A., Souzeau,E., Mitchell,P., Wang,J.J., Hewitt,A.W.,
            Coote,M., Crowston,J.G., Astakhov,S.Y., Akopov,E.L., Emelyanov,A.,
            Vysochinskaya,V., Kazakbaeva,G., Fayzrakhmanov,R., Al-Obeidan,S.A.,
            Owaidhah,O., Aljasim,L.A., Chowbay,B., Foo,J.N., Soh,R.Q.,
            Sim,K.S., Xie,Z., Cheong,A.W.O., Mok,S.Q., Soo,H.M., Chen,X.Y.,
            Peh,S.Q., Heng,K.K., Husain,R., Ho,S.L., Hillmer,A.M., Cheng,C.Y.,
            Escudero-Dominguez,F.A., Gonzalez-Sarmiento,R., Martinon-Torres,F.,
            Salas,A., Pathanapitoon,K., Hansapinyo,L., Wanichwecharugruang,B.,
            Kitnarong,N., Sakuntabhai,A., Nguyn,H.X., Nguyn,G.T.T., Nguyn,T.V.,
            Zenz,W., Binder,A., Klobassa,D.S., Hibberd,M.L., Davila,S.,
            Herms,S., Nothen,M.M., Moebus,S., Rautenbach,R.M., Ziskind,A.,
            Carmichael,T.R., Ramsay,M., Alvarez,L., Garcia,M.,
            Gonzalez-Iglesias,H., Rodriguez-Calvo,P.P., Fernandez-Vega
            Cueto,L., Oguz,C., Tamcelik,N., Atalay,E., Batu,B., Aktas,D.,
            Kasim,B., Wilson,M.R., Coleman,A.L., Liu,Y., Challa,P., Herndon,L.,
            Kuchtey,R.W., Kuchtey,J., Curtin,K., Chaya,C.J., Crandall,A.,
            Zangwill,L.M., Wong,T.Y., Nakano,M., Kinoshita,S., den
            Hollander,A.I., Vesti,E., Fingert,J.H., Lee,R.K., Sit,A.J.,
            Shingleton,B.J., Wang,N., Cusi,D., Qamar,R., Kraft,P.,
            Pericak-Vance,M.A., Raychaudhuri,S., Heegaard,S., Kivela,T.,
            Reis,A., Kruse,F.E., Weinreb,R.N., Pasquale,L.R., Haines,J.L.,
            Thorsteinsdottir,U., Jonasson,F., Allingham,R.R., Milea,D.,
            Ritch,R., Kubota,T., Tashiro,K., Vithana,E.N., Micheal,S.,
            Topouzis,F., Craig,J.E., Dubina,M., Sundaresan,P., Stefansson,K.,
            Wiggs,J.L., Pasutto,F. and Khor,C.C.
  TITLE     Genetic association study of exfoliation syndrome identifies a
            protective rare variant at LOXL1 and five new susceptibility loci
  JOURNAL   Nat Genet 49 (7), 993-1004 (2017)
   PUBMED   28553957
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA097438.1 and AP001150.5.
            
            On Jun 2, 2019 this sequence version replaced NM_001198671.1.
            
            Transcript Variant: This variant (3) uses an alternate splice
            junction at the 5' end of an exon compared to variant 1. The
            resulting isoform (c) is shorter at the N-terminus compared to
            isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.135443.1,
                                           SRR1803617.22450.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000375095.3/ ENSP00000364236.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-469               DA097438.1         97-565
            470-3980            AP001150.5         99825-103335
FEATURES             Location/Qualifiers
     source          1..3980
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.3"
     gene            1..3980
                     /gene="TLCD5"
                     /gene_synonym="TMEM136"
                     /note="TLC domain containing 5"
                     /db_xref="GeneID:219902"
                     /db_xref="HGNC:HGNC:28280"
     exon            1..70
                     /gene="TLCD5"
                     /gene_synonym="TMEM136"
                     /inference="alignment:Splign:2.1.0"
     exon            71..270
                     /gene="TLCD5"
                     /gene_synonym="TMEM136"
                     /inference="alignment:Splign:2.1.0"
     CDS             72..809
                     /gene="TLCD5"
                     /gene_synonym="TMEM136"
                     /note="isoform c is encoded by transcript variant 3;
                     transmembrane protein 136; TLC domain-containing protein
                     5"
                     /codon_start=1
                     /product="TLC domain-containing protein 5 isoform c"
                     /protein_id="NP_001185600.1"
                     /db_xref="CCDS:CCDS55793.1"
                     /db_xref="GeneID:219902"
                     /db_xref="HGNC:HGNC:28280"
                     /translation="MALALCLQVLCSLCGWLSLYISFCHLNKHRSYEWSCRLVTFTHG
                     VLSIGLSAYIGFIDGPWPFTHPGSPNTPLQVHVLCLTLGYFIFDLGWCVYFQSEGALM
                     LAHHTLSILGIIMALVLGESGTEVNAVLFGSELTNPLLQMRWFLRETGHYHSFTGDVV
                     DFLFVALFTGVRIGVGACLLFCEMVSPTPKWFVKAGGVAMYAVSWCFMFSIWRFAWRK
                     SIKKYHAWRSRRSEERQLKHNGHLKIH"
     exon            271..3980
                     /gene="TLCD5"
                     /gene_synonym="TMEM136"
                     /inference="alignment:Splign:2.1.0"
     regulatory      911..916
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TLCD5"
                     /gene_synonym="TMEM136"
                     /note="hexamer: AATAAA"
     polyA_site      928
                     /gene="TLCD5"
                     /gene_synonym="TMEM136"
                     /note="major polyA site"
     regulatory      3956..3961
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TLCD5"
                     /gene_synonym="TMEM136"
                     /note="hexamer: AGTAAA"
     polyA_site      3980
                     /gene="TLCD5"
                     /gene_synonym="TMEM136"
ORIGIN      
        1 ctgttgccgc gatccgggcc gggagctgcg ggcgcccggg cgcccgaggc ttcccggtgc
       61 gctccgccag gatggcatta gctctgtgtc tgcaggtgct gtgcagcctg tgtggctggc
      121 tctcgctcta tatttctttc tgccacctga ataagcaccg aagctatgag tggagctgcc
      181 gcctggtcac cttcacccat ggagtcctct ctataggcct ctccgcttat attggcttca
      241 ttgatggccc atggcctttt acccacccag gctcacccaa tacacctctc caagttcatg
      301 tcctgtgtct caccttgggc tacttcatct tcgacttggg ctggtgcgtc tactttcagt
      361 ctgagggtgc cttgatgctg gctcatcaca cattgagtat cttgggcatt atcatggccc
      421 ttgtgcttgg ggagtctggc acagaggtca atgcagtcct ctttggaagt gagcttacca
      481 accccttgct acagatgcgc tggtttctcc gggaaacagg gcactatcac agtttcactg
      541 gagatgtagt ggacttcctc tttgtggctc tgttcacagg agtgaggatt ggtgtgggag
      601 cttgcctcct tttctgtgaa atggtctccc ccacgcctaa gtggtttgtg aaggctgggg
      661 gagtagcgat gtatgctgtg tcttggtgtt tcatgtttag catctggcgc tttgcatgga
      721 ggaagagcat caagaagtac catgcttgga gaagcaggcg gagtgaggaa cggcagctga
      781 aacacaacgg acatctcaaa atacactagc caaggcttgc tccagattat ggattgggtt
      841 aagtcagcca tgggaaccag gttggaaata tgactgttac ataattacac ttataacaaa
      901 cttaggtttc aataaagggc taaatgtatt gatcaatttg gtcagtcttc aagccgagca
      961 tataccagta ttaaaacact aacttctaca gtagcacagt tgtagaaagt gagaatactc
     1021 catggtagtt gggaataagt gagaactgtg aagtgagtac aactggcatt tgttttcatt
     1081 tgtggtgacc ctgggtcctc ctgtccctgg gaggtttgat gttcaggcag tttagaaagg
     1141 aactcgaaaa agattagtgc tatttcttgt tcctttgaga agtaactctt tcaataaaca
     1201 cttatttctg ctttccatat agcaatttat ctaagtttac cccatttact ataaagtgag
     1261 gggcttacag gaagagacac gcctttgaca ttctgaacat tagatcgggg aattgggtcg
     1321 cttaaacaga ggggcatagg agggtgagag tgaaactggc agtgaggggg agggctactt
     1381 actgaacctc ctataccaac tgtgccagag gtgcccaaga ccactgccag gttctgtaat
     1441 tctctgggaa gactcagtgg actcagcata tagtcttact tatagttttg atttattata
     1501 gtgaaaagat acaaagaaaa atcggtaaaa ggaaaaggca cctgagacaa agtctagggt
     1561 aaagcaagca caagtttcca gagtcctctc ccaatggaat cacacaggat gcacttaatt
     1621 cccctagcag tgatttgtta cgacatgtga atgagttgtc tactggacaa ggtcactaca
     1681 gactcagtgc ccaaagtttt tactgaggac aggtcatcta ggcaggcttt ccctggcaga
     1741 tagcaaaatt caagactctc aaaaggaaag caggtgttca gcataagcca tattgtttgc
     1801 acaagcagtt cagacacagt aagccagtct tatcagttaa ttgtgggagc ccctccaaaa
     1861 tctaagttcc caaatgccgg ccagtggcca accctgtaat caggcctctc caaggatagc
     1921 agtttaggcc tgctatgtta actcttttct gcacaaaacc tatagagtta gggctttgga
     1981 tctgagatga atgaagtgtg ggtagattta ctgagtcctg ttatatgggt tctgccctac
     2041 caggaaaact atgccagttc tcagggcttt tgtgcattaa tctcctaggc atttgaggct
     2101 atgactaaat tccataggga tttatcatgt ggattccact gtgcttgaga tggcagttta
     2161 gatttcagct ctgctgtaca tattgcaaac tagagccaaa gactttaaag tgtgtactgg
     2221 cctcaggggg atgaggttaa tttttttttt tcattttaga tactttccct tttagtactc
     2281 ctcctacttt tcttattttt actaaaaagg taccactcta tgaacaaact aataaaacaa
     2341 ggccagtctt ggaaggaaaa aaataataat tcttagtgtg acagtctcca agagaagcaa
     2401 gaatataagc ttagaacaag gggttaagaa tccagaattc ctgggttctt ttaactaatt
     2461 ttgctactca cttgccactt tggagagcta ctcactcact ttggataggt tacttgtttc
     2521 ttctttgcct gagtttaaac ctattgtgaa tgaatgaaat accctgtagt atatttcata
     2581 aatacattat gtggcatttt attaatggag gtctttaatg tagggctttt atggaaatat
     2641 gaagtattta tgtatttatt gattatttat ttttaccatg ttattgaagt caatggtgtt
     2701 tgattagctc agtgggtgag caagcatatg gtgctactgg agtcaaggct ggtcagtagg
     2761 aagcatcagt ccattccatg gccactggta atctaacgta atgaatggtg tcttttgttg
     2821 ttgttgttgt tgttgttgtt gtttgagaca gagtcttgct ctgtcgccca ggctggagtg
     2881 cagtggtgtg atctcaactc actgcaacct ccgccttctg tgttcaagtg attctcctgc
     2941 ctcagcctcc cgagtagctg ggactacagg cgtgtgccac catgcctggc tactttttgt
     3001 atttttagta gagacggggt ttcaccatgt tggccaggct ggtcttgaac tcctgacttc
     3061 atgacccacc cgcctcggcc tcccaaagtg ctgggattac aggtgtgagc caccgtgccc
     3121 agccatgagc ggtcttgaaa atgaaaaatg gtcttggcca cagaaaccag gtatgaggga
     3181 gtggttggaa tggtataaag tcatcactgt tagggaaaca gtaactttaa atgcatgtta
     3241 acagtgggtc tttaaaaatg aatgtcattt ggttaaagag ttttgctggg cattgagata
     3301 atctgacagc atctccactt cctgtttttt ttcttaatct ccactttttt tttttctatg
     3361 atgagcgccc ctaaaatgct ggtaagcttc tttccaacaa aattgcggtc aaagtaggat
     3421 gctggggaat gctgatttta gcaaaagctt gtagaaaaga gtggcctggc acatgagctt
     3481 aaaaaaaaga aaaaaagctg gctcttgaat tttggcacag tgcaacctgt tccataccag
     3541 acaaatgaac aggcttaatc tggtaccaat tctttttctc tcttactcct cagaagtgaa
     3601 gggactgcag atcttgttgt tttggggaca ctttcatgga actgtatgta ggtttttttg
     3661 aatggtgaga aatctgaata attggtaagg ggaagggaat ccctcatttc agcttttctt
     3721 gatgttgtta ctaataacta tgaaaaaact tctgagagaa caatgtgaac tgaagatgac
     3781 tcagcagtta agacaatgct aagttctgaa accacaggta aatgaagggc taattaatgt
     3841 gtggtatact tggacaaaat gaagtactca tttgcactgg attactgtgt aatgataacg
     3901 aacactgttc aagaacgatt tatatttcca taagatttgt actaaatttt ataaaagtaa
     3961 aacaactttt tataaaccca
//
