LOCUS       NM_001093730            2051 bp    mRNA    linear   PRI 02-JUN-2024
DEFINITION  Homo sapiens dystrotelin (DYTN), mRNA.
ACCESSION   NM_001093730
VERSION     NM_001093730.1
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 2051)
  AUTHORS   Jin,H., Tan,S., Hermanowski,J., Bohm,S., Pacheco,S., McCauley,J.M.,
            Greener,M.J., Hinits,Y., Hughes,S.M., Sharpe,P.T. and Roberts,R.G.
  TITLE     The dystrotelin, dystrophin and dystrobrevin superfamily: new
            paralogues and old isoforms
  JOURNAL   BMC Genomics 8, 19 (2007)
   PUBMED   17233888
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DQ516347.1.
            
            Summary: This gene belongs to the dystrophin superfamily, which is
            characterized by the presence of four EF-hand motifs and a
            ZZ-domain. It is a likely ortholog of the Drosophila 'discontinuous
            actin hexagon' gene. It is noteworthy that the coding region of
            this gene lacks two coding exons that are found in the mouse
            ortholog. Human transcripts including these two exons are subject
            to nonsense-mediated transcript decay (NMD). On the other hand,
            transcripts skipping the two coding exons are expressed at very low
            levels. While this gene maintains an intact CDS, it may be an
            evolving pseudogene. However, after a discussion about this gene
            within the RefSeq group, as well as in the consensus coding
            sequence (CCDS) collaboration, it was decided to keep it as a
            protein-coding gene in the RefSeq, Ensembl-GENCODE and the CCDS
            sets. [provided by RefSeq, Jul 2019].
            
            ##Evidence-Data-START##
            Transcript exon combination :: DQ516347.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA2148093,
                                           SAMEA2151119 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000452335.2/ ENSP00000396593.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..2051
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33.3"
     gene            1..2051
                     /gene="DYTN"
                     /note="dystrotelin"
                     /db_xref="GeneID:391475"
                     /db_xref="HGNC:HGNC:23279"
                     /db_xref="MIM:618510"
     exon            1..136
                     /gene="DYTN"
                     /inference="alignment:Splign:2.1.0"
     CDS             118..1854
                     /gene="DYTN"
                     /codon_start=1
                     /product="dystrotelin"
                     /protein_id="NP_001087199.1"
                     /db_xref="CCDS:CCDS46502.1"
                     /db_xref="GeneID:391475"
                     /db_xref="HGNC:HGNC:23279"
                     /db_xref="MIM:618510"
                     /translation="MDPDKQDALNSIENSIYRTAFKLQSVQTLCQLDLIDSSLIQQVL
                     LRPSFWEARKHSLSVQQLSQALQELFQKAREENPGQVHPRAPELTLSLLTTMYNSKGT
                     GFLQLMPAAAALITLSGDSPLSKYRALFQLYAENSRGGYDSGPRMTRRVLRKLLTDLQ
                     QIPTFVGESRALCPVESATRSCFQGVLSPAIKEEKFLSWVQSEPPILLWLPTCHRLSA
                     AERVTHPARCTLCRTFPITGLRYRCLKCLNFDICQMCFLSGLHSKSHQKSHPVIEHCI
                     QMSAMQNTKLLFRTLRNNLLQGRCRKKEAARRQQLLDQVNPKGVPHHAQARLLKKQLN
                     QYKDKLQAIYTSQEERICRFETRIHKLKTNQDSLWTKLQQIRRDLQARLQPPGPSSSS
                     FQNVGNKVDHSSTEKVPKGGDYLQIKNATEDASTGEPLPKLDEVDRSHRSHTNAEHAL
                     RNPESPETTLHSTRAQSQTQKMPQKVISALPSYQEGLKQDIPKMVPAEMSSPALAAVE
                     KKEAGNIKERKDELEEEELQELLSKLMDAFNLETPSGPESSVNMDLYSGAQRVCRAFS
                     ALVDQIALPNLK"
     exon            137..211
                     /gene="DYTN"
                     /inference="alignment:Splign:2.1.0"
     exon            212..413
                     /gene="DYTN"
                     /inference="alignment:Splign:2.1.0"
     exon            414..499
                     /gene="DYTN"
                     /inference="alignment:Splign:2.1.0"
     exon            500..600
                     /gene="DYTN"
                     /inference="alignment:Splign:2.1.0"
     exon            601..672
                     /gene="DYTN"
                     /inference="alignment:Splign:2.1.0"
     exon            673..836
                     /gene="DYTN"
                     /inference="alignment:Splign:2.1.0"
     exon            837..948
                     /gene="DYTN"
                     /inference="alignment:Splign:2.1.0"
     exon            949..1097
                     /gene="DYTN"
                     /inference="alignment:Splign:2.1.0"
     exon            1098..1257
                     /gene="DYTN"
                     /inference="alignment:Splign:2.1.0"
     exon            1258..1750
                     /gene="DYTN"
                     /inference="alignment:Splign:2.1.0"
     exon            1751..2051
                     /gene="DYTN"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 ttgccttttt gttcccctgt cctcattcct ctgctgcaaa accttctgct taaaatactg
       61 gttcatttct agttacaggg acccacttgc catctgtcat tccaggaaat ttgtgaaatg
      121 gatccagata aacaagatgc tcttaatagt attgagaatt ccatttatag aacagccttc
      181 aaattacaat cagtgcaaac tctgtgccag ttggacttga ttgacagctc cctgattcag
      241 caggtcctac tgcgtccaag tttctgggaa gctcgcaagc actccctttc tgtgcagcaa
      301 ctttctcagg cactccaaga gctgtttcag aaggccaggg aggaaaaccc aggacaagtg
      361 catcccagag ctccggaact cactctgagc cttctcacga caatgtacaa cagcaaagga
      421 acaggttttc tccagcttat gcctgcggcc gctgccctaa taaccctctc aggagacagc
      481 cctctttcaa aataccgagc tctttttcaa ctctatgcag aaaatagcag gggaggctat
      541 gattctgggc cacgcatgac tcgaagggtt ttgagaaaac tactaacaga tctacagcag
      601 atcccaactt tcgtgggaga gagtcgtgct ctgtgccctg tggaaagtgc cacccgcagc
      661 tgtttccaag gggtgttgag cccagcaatc aaagaagaaa aattcctgtc ttgggtccaa
      721 tctgagcctc ccatcctcct gtggctcccg acctgccacc ggttatcagc tgctgaaagg
      781 gtcactcacc ctgctcggtg cactctctgc aggactttcc caatcacggg actcagatac
      841 cgctgtctga agtgtctcaa ctttgacatc tgccagatgt gtttcttatc tggtcttcac
      901 agcaagtccc atcagaagtc tcatcctgtc attgagcact gcattcagat gtcagcaatg
      961 cagaatacaa aacttctctt caggaccctc agaaacaacc ttcttcaggg gcgctgtagg
     1021 aagaaagaag cagcgagaag gcagcagctg ctggaccagg tgaatccaaa gggtgtgcct
     1081 caccatgcgc aggccaggct ccttaaaaaa cagttaaacc aatacaaaga caagttgcaa
     1141 gctatataca cctcccagga agaaagaatt tgtcgatttg aaacaaggat tcacaaactc
     1201 aaaaccaacc aggatagtct atggaccaag ctacaacaga taagacggga cctacaggca
     1261 aggttgcagc cacccggtcc ttcatcttct tcctttcaaa atgtggggaa caaggttgac
     1321 cattcttcaa ctgaaaaggt tccaaaggga ggggattatt tgcagatcaa gaatgccact
     1381 gaagatgctt caacagggga acctcttcct aagcttgatg aggttgacag aagtcacaga
     1441 agtcacacaa atgcagagca tgctctgcga aatccagaat caccagagac cactttgcac
     1501 agcaccaggg cacaaagcca aacacaaaag atgccacaga aagtcattag tgccctaccc
     1561 agttatcagg agggactgaa gcaggacatc cccaaaatgg ttcctgctga aatgagcagt
     1621 cctgctctgg cagccgtgga aaagaaagag gcaggtaaca tcaaggagag aaaggatgag
     1681 ctggaggaag aggaactgca agaactattg tcaaaactta tggatgcctt caatctagaa
     1741 acgccatcag gcccggagtc ttcagtaaac atggacctgt acagtggagc tcagcgagtg
     1801 tgcagggcct tctctgccct tgttgatcaa attgccttgc ccaatttgaa gtgaaatgga
     1861 gtccaggctc aaaggcctct tggtgtgatg acaaaatgca gttgcacaac tgtattaaaa
     1921 gaattaagac ttctaccttt cttttaatag tttagtgtga actatgaaga aaacaggttt
     1981 tgttttttga tctccctccc tacttatgta tcttagttct gcagttcaga gtgaaggttg
     2041 ggggttagca g
//
