LOCUS       NM_152665               2262 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens dynein light chain Tctex-type family member 5
            (DYNLT5), mRNA.
ACCESSION   NM_152665
VERSION     NM_152665.3
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 2262)
  AUTHORS   Spitali,P., Zaharieva,I., Bohringer,S., Hiller,M., Chaouch,A.,
            Roos,A., Scotton,C., Claustres,M., Bello,L., McDonald,C.M.,
            Hoffman,E.P., Koeks,Z., Eka Suchiman,H., Cirak,S., Scoto,M.,
            Reza,M., 't Hoen,P.A.C., Niks,E.H., Tuffery-Giraud,S.,
            Lochmuller,H., Ferlini,A., Muntoni,F. and Aartsma-Rus,A.
  CONSRTM   CINRG Investigators
  TITLE     TCTEX1D1 is a genetic modifier of disease progression in Duchenne
            muscular dystrophy
  JOURNAL   Eur J Hum Genet 28 (6), 815-825 (2020)
   PUBMED   31896777
  REMARK    GeneRIF: TCTEX1D1 is a genetic modifier of disease progression in
            Duchenne muscular dystrophy.
REFERENCE   2  (bases 1 to 2262)
  AUTHORS   Cho,K.J., Noh,S.H., Han,S.M., Choi,W.I., Kim,H.Y., Yu,S., Lee,J.S.,
            Rim,J.H., Lee,M.G., Hildebrandt,F. and Gee,H.Y.
  TITLE     ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic
            pre-assembly of dynein arms
  JOURNAL   PLoS Genet 14 (3), e1007316 (2018)
   PUBMED   29601588
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK098192.1, AL354978.20 and AI016360.1.
            
            On Nov 23, 2018 this sequence version replaced NM_152665.2.
            
            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 :: SRR1803614.103940.1,
                                           SRR1803616.15586.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA2142363
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000282670.7/ ENSP00000282670.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-555               AK098192.1         1-555
            556-2135            AL354978.20        61244-62823
            2136-2262           AI016360.1         5-131               c
FEATURES             Location/Qualifiers
     source          1..2262
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.3"
     gene            1..2262
                     /gene="DYNLT5"
                     /gene_synonym="TCTEX1D1"
                     /note="dynein light chain Tctex-type family member 5"
                     /db_xref="GeneID:200132"
                     /db_xref="HGNC:HGNC:26882"
                     /db_xref="MIM:619994"
     exon            1..126
                     /gene="DYNLT5"
                     /gene_synonym="TCTEX1D1"
                     /inference="alignment:Splign:2.1.0"
     exon            127..248
                     /gene="DYNLT5"
                     /gene_synonym="TCTEX1D1"
                     /inference="alignment:Splign:2.1.0"
     CDS             130..669
                     /gene="DYNLT5"
                     /gene_synonym="TCTEX1D1"
                     /note="tctex1 domain-containing protein 1; Tctex1 domain
                     containing 1"
                     /codon_start=1
                     /product="dynein light chain Tctex-type 5"
                     /protein_id="NP_689878.2"
                     /db_xref="CCDS:CCDS633.1"
                     /db_xref="GeneID:200132"
                     /db_xref="HGNC:HGNC:26882"
                     /db_xref="MIM:619994"
                     /translation="MMMSDNAKGRAAHSWKKRGSISSLSNHEFWRKEIHGRIKDSMST
                     VSYMEEPSQRDDISRLTVQMENTYQLGPPKHFPVVTVNHILKDVVTSYLQVEEYEPEL
                     CRQMTKTISEVIKAQVKDLMIPRYKLIVIVHIGQLNRQSILIGSRCLWDPKSDTFSSY
                     VFRNSSLFALANVYAVYLE"
     exon            249..340
                     /gene="DYNLT5"
                     /gene_synonym="TCTEX1D1"
                     /inference="alignment:Splign:2.1.0"
     exon            341..465
                     /gene="DYNLT5"
                     /gene_synonym="TCTEX1D1"
                     /inference="alignment:Splign:2.1.0"
     exon            466..2262
                     /gene="DYNLT5"
                     /gene_synonym="TCTEX1D1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1349..1354
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DYNLT5"
                     /gene_synonym="TCTEX1D1"
                     /note="hexamer: AATAAA"
     polyA_site      1373
                     /gene="DYNLT5"
                     /gene_synonym="TCTEX1D1"
                     /note="major polyA site"
     polyA_site      2004
                     /gene="DYNLT5"
                     /gene_synonym="TCTEX1D1"
     regulatory      2122..2127
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DYNLT5"
                     /gene_synonym="TCTEX1D1"
                     /note="hexamer: ATTACA"
     polyA_site      2142
                     /gene="DYNLT5"
                     /gene_synonym="TCTEX1D1"
     regulatory      2228..2233
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DYNLT5"
                     /gene_synonym="TCTEX1D1"
                     /note="hexamer: AATAAA"
     regulatory      2242..2247
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DYNLT5"
                     /gene_synonym="TCTEX1D1"
                     /note="hexamer: AAGAAA"
     polyA_site      2247
                     /gene="DYNLT5"
                     /gene_synonym="TCTEX1D1"
     polyA_site      2262
                     /gene="DYNLT5"
                     /gene_synonym="TCTEX1D1"
ORIGIN      
        1 agagtccagg gagagtgcgc gggcggccgc cggctgaatg aagcctggga cgcgggagcc
       61 gcgccgcgcg cagtgtctgc agtgccggag gtctgggagg ctccgggcga agcctccctg
      121 ctgcaggtta tgatgatgtc agacaatgct aaaggcagag cagctcattc atggaagaaa
      181 agagggagta tttcttctct aagtaatcat gaattttggc gaaaggaaat tcatgggcgc
      241 atcaaagatt ctatgagtac tgtgtcttat atggaagaac ccagtcagcg tgatgatatc
      301 tctcgcctta cagttcagat ggaaaacacc tatcagttgg gtcctcccaa acattttcct
      361 gtggtcaccg tcaatcatat tttgaaagat gtagtaacca gctatctaca agtagaagaa
      421 tatgaaccag agctctgtag acagatgact aaaaccattt ctgaggttat taaagcccag
      481 gtcaaggact tgatgattcc acggtataaa ctaattgtga ttgttcacat tggacaactg
      541 aacaggcaga gcatacttat tggaagcaga tgcctctggg atcctaaaag tgataccttt
      601 tcatcttatg ttttcagaaa ttcttctctc ttcgctcttg caaatgtcta tgcagtttac
      661 cttgagtgat tgaaaataag aaatctagct cttacttttg aaaattctga ggcaggctgt
      721 atgtctgtac acaaaagttt tactgccaaa aactttgaga aagaaacaac actgatattt
      781 caagcaactg gaagcttttg aattttttca tattctagta aagatttggg gaggggaggg
      841 tagccacaga aagaatcttg tttatctaaa gcaggaactt gatcttggtt ttgctggatt
      901 gctttccata gacatagatt cttattaaat atttgttttg gtactaatta ttttaattat
      961 tctttaatta gagtgttaca atttcctgca ttgtttttta ataaaaagaa gctttagaaa
     1021 aactatggct atataccctg accaataaat gatagtagaa tattcaacat ggtatacaca
     1081 aatgataaat aatgtgcctc agtgctgcat ataaaagaat actggttttc attttgtact
     1141 taataaattg agcagcattc attaagtgca attattgtta catgtacctg acagttgaaa
     1201 ctgctgaggt agaattaatg gcttcataac aattatcgtg gtcccacggg ctgcaagcta
     1261 aaactagaag ctcttgtggc ttgcctgcac tttacacaat tgtgggagaa ccgaaagttg
     1321 gctcttcagt aatggaaact ataaagtgaa taaaggcttt ttgggacact gaagtagaca
     1381 ttgtgatatt aaatatacat gatgcttaat actaaatgtg tctgtaacac ataaaatcat
     1441 ttattggaaa gagacattgc ttttaaatat cctaggctaa caaacttttt cacaaaatat
     1501 atggctggca ccttaacaaa taaagcatgt gtagttacca ttttactcct atgaatttaa
     1561 tactaaagtg acccagtgag gtttttgaat agacgggtgc taaaatttac agggctgaaa
     1621 tagcttatta ttctgctggt taatgtatct tacgccacgg atcatttatt tttatgaagc
     1681 tttcaagtct ttgtgtgcaa gtaaaatgat gttgtggcgt tgttcttgga tggtaagtgg
     1741 actgcctaga ggacatttgt taaaggtcaa agacaaattg tacacatatg gagaaaatta
     1801 gcaatgctgt agtcttaagg aaaaaatgat ttatcattca tatcaaaaag agtttagcaa
     1861 atggaaaacc agttaatgct ttaattttaa aatgttttgg tgtcttactt ttccctaaaa
     1921 atgacatgta gtaaaaaatg gatactttta aaatcccttc ccttctgcta ttttctggct
     1981 tttaaagtga ttattcaaaa tgaatttgtc aattttcact tttttttttc tgttagtgca
     2041 ttagtgggaa tatgtctatg taataattta tcacaaccaa tatttgtcaa tctccataga
     2101 acagttttca atctggatta gattacacgt ataacaagta aatgagcttc atattttcat
     2161 tacacattgg tgaacatctc ccttcgtgga acaacagcgg gggtaatcat atcactaatt
     2221 ttgtatgaat aaatgaaaat gaagaaactt ctttaacata ta
//
