LOCUS       NM_001004234            1781 bp    mRNA    linear   ROD 29-JUL-2024
DEFINITION  Rattus norvegicus pyridine nucleotide-disulphide oxidoreductase
            domain 1 (Pyroxd1), mRNA.
ACCESSION   NM_001004234 XM_216307
VERSION     NM_001004234.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Rattus norvegicus (Norway rat)
  ORGANISM  Rattus norvegicus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Rattus.
REFERENCE   1  (bases 1 to 1781)
  AUTHORS   Saha,M., Reddy,H.M., Salih,M.A., Estrella,E., Jones,M.D.,
            Mitsuhashi,S., Cho,K.A., Suzuki-Hatano,S., Rizzo,S.A., Hamad,M.H.,
            Mukhtar,M.M., Hamed,A.A., Elseed,M.A., Lek,M., Valkanas,E.,
            MacArthur,D.G., Kunkel,L.M., Pacak,C.A., Draper,I. and Kang,P.B.
  TITLE     Impact of PYROXD1 deficiency on cellular respiration and
            correlations with genetic analyses of limb-girdle muscular
            dystrophy in Saudi Arabia and Sudan
  JOURNAL   Physiol Genomics 50 (11), 929-939 (2018)
   PUBMED   30345904
REFERENCE   2  (bases 1 to 1781)
  AUTHORS   O'Grady,G.L., Best,H.A., Sztal,T.E., Schartner,V.,
            Sanjuan-Vazquez,M., Donkervoort,S., Abath Neto,O., Sutton,R.B.,
            Ilkovski,B., Romero,N.B., Stojkovic,T., Dastgir,J., Waddell,L.B.,
            Boland,A., Hu,Y., Williams,C., Ruparelia,A.A., Maisonobe,T.,
            Peduto,A.J., Reddel,S.W., Lek,M., Tukiainen,T., Cummings,B.B.,
            Joshi,H., Nectoux,J., Brammah,S., Deleuze,J.F., Ing,V.O., Ramm,G.,
            Ardicli,D., Nowak,K.J., Talim,B., Topaloglu,H., Laing,N.G.,
            North,K.N., MacArthur,D.G., Friant,S., Clarke,N.F.,
            Bryson-Richardson,R.J., Bonnemann,C.G., Laporte,J. and Cooper,S.T.
  TITLE     Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy
            with Internalized Nuclei and Myofibrillar Disorganization
  JOURNAL   Am J Hum Genet 99 (5), 1086-1105 (2016)
   PUBMED   27745833
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from BC079377.1.
            
            On Sep 10, 2004 this sequence version replaced XM_216307.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC079377.1, SRR8487230.33137.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMD00132292, SAMD00132295
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1781
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /db_xref="taxon:10116"
                     /chromosome="4"
                     /map="4q44"
     gene            1..1781
                     /gene="Pyroxd1"
                     /note="pyridine nucleotide-disulphide oxidoreductase
                     domain 1"
                     /db_xref="GeneID:297708"
                     /db_xref="RGD:1303253"
     exon            1..117
                     /gene="Pyroxd1"
                     /inference="alignment:Splign:2.1.0"
     CDS             43..1539
                     /gene="Pyroxd1"
                     /EC_number="1.8.1.-"
                     /codon_start=1
                     /product="pyridine nucleotide-disulfide oxidoreductase
                     domain-containing protein 1"
                     /protein_id="NP_001004234.1"
                     /db_xref="GeneID:297708"
                     /db_xref="RGD:1303253"
                     /translation="MEAARPAGTFVVVGGGIAGVTCAEQLAINFPAEDILLVTASPVI
                     KAVTNFKQVSKVLEEFDVEEQPSTMLENRFPNIKVIESGVKQLKSDKHCIFTEDGREY
                     VYKKLCLCAGAKPKLICEGNPYVLGIRDTDSAQEFQKQLTKARRIMIVGNGGIALELA
                     YEVEVCEVIWAIKDKAIGNTFFDAGAAEFLTSRLLSEKSEAKLAHKRTIYTVEEAKKE
                     TSTKSKADYVGSALGPDWHGGLALKGTEEFSHSIHIETKCEVKKIYLQEEFKIMKKKS
                     LAFPKDHHKSVTVDKEMWPVYVELTNGSIYGCDFLVSATGVTPNVQPFLHGNDFDLGE
                     DGGLRVDEQMRTSLPDIYAAGDICTACWPPSPVWQQMRLWTQARQMGCYAAKCMAAAT
                     MGHPIDMDFSFELFAHVTKFFNYKVVLLGKYNAQGLGVDHELMLRCTRGQEYIKVVMH
                     NGRMMGAVLIGETDLEETFENLILNQMDLSSYGEDLLNPDIDIEDYFD"
     exon            118..198
                     /gene="Pyroxd1"
                     /inference="alignment:Splign:2.1.0"
     exon            199..318
                     /gene="Pyroxd1"
                     /inference="alignment:Splign:2.1.0"
     exon            319..447
                     /gene="Pyroxd1"
                     /inference="alignment:Splign:2.1.0"
     exon            448..521
                     /gene="Pyroxd1"
                     /inference="alignment:Splign:2.1.0"
     exon            522..682
                     /gene="Pyroxd1"
                     /inference="alignment:Splign:2.1.0"
     exon            683..783
                     /gene="Pyroxd1"
                     /inference="alignment:Splign:2.1.0"
     exon            784..916
                     /gene="Pyroxd1"
                     /inference="alignment:Splign:2.1.0"
     exon            917..1029
                     /gene="Pyroxd1"
                     /inference="alignment:Splign:2.1.0"
     exon            1030..1152
                     /gene="Pyroxd1"
                     /inference="alignment:Splign:2.1.0"
     exon            1153..1290
                     /gene="Pyroxd1"
                     /inference="alignment:Splign:2.1.0"
     exon            1291..1756
                     /gene="Pyroxd1"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 ggaactttct cctgtgtagt cagccgccag cccccgggga ccatggaggc cgcgcgaccg
       61 gcagggacat tcgtggtggt gggaggcggc atcgctggcg tcacgtgtgc cgagcagctg
      121 gctattaatt tccccgcaga agacattctc ctggtcacag cctctcctgt tatcaaagca
      181 gttacaaact tcaaacaggt gtctaaagta ctggaagaat ttgatgttga agaacagcca
      241 agcaccatgc tggaaaatcg ctttcccaac attaaggtca tagaatctgg agtaaagcag
      301 ctgaagagtg acaagcactg catcttcaca gaagatggcc gtgagtatgt gtataagaaa
      361 ctctgcctgt gtgctggagc taagccaaag ttaatctgcg agggaaatcc ctatgtactg
      421 gggatccgtg atacagacag tgctcaggaa tttcagaaac agcttacaaa agccaggaga
      481 ataatgattg tcgggaatgg tggcattgct ctggagctgg cgtatgaagt cgaagtctgt
      541 gaagtgattt gggccataaa ggataaagcc attggaaata cattctttga tgcgggcgca
      601 gcagagtttt tgacttccag gctcctgtct gaaaaatcgg aggctaaact tgcacacaaa
      661 agaacgatct acacagtcga agaagcaaaa aaggaaacca gtaccaaatc taaagccgat
      721 tatgtgggca gtgcccttgg accagactgg catggaggct tggctttgaa aggaacagag
      781 gagttttctc acagtattca cattgaaacc aaatgtgaag taaagaaaat ctaccttcaa
      841 gaggagttta agattatgaa gaaaaaatcc ttggcttttc caaaggatca ccataagtca
      901 gttacagttg ataaagaaat gtggcctgtg tatgtggaac tgacgaacgg cagcatatac
      961 ggctgtgatt tccttgtcag cgctacagga gtcaccccaa atgtgcagcc gtttctccat
     1021 ggaaacgatt ttgacctagg agaagatggc ggcctgagag tagatgagca gatgcgcacg
     1081 tcacttcctg atatctatgc tgctggagac atctgtactg catgctggcc gccaagccca
     1141 gtctggcagc agatgagact gtggacgcag gcacggcaga tggggtgcta tgcagccaag
     1201 tgcatggctg cagctactat ggggcatcct attgacatgg acttcagctt tgaactgttt
     1261 gctcatgtca ctaaattttt taactataag gttgtgctgc taggcaaata caacgcacaa
     1321 ggcctgggtg tggaccacga gttaatgctg aggtgcacca ggggacagga gtacatcaaa
     1381 gtcgtcatgc acaacggacg catgatggga gctgtcttaa ttggtgaaac tgacttggag
     1441 gagacatttg aaaatttaat tttaaaccaa atggaccttt catcatacgg ggaggatctg
     1501 ctaaatccag atatcgatat agaggattat tttgactgaa attggaatct cttcaggaat
     1561 acaaagcaca aaatacggag aaaacatggg aaaccgaaca accacactga gtgaacgagc
     1621 actcagtaga gaatgcagaa gccagattcc aggttggaaa gaaagaaaga aaataatcct
     1681 taggatggat ccatttaatg actgatttgc agatgaacac tcctagtaca cagttgacaa
     1741 taaaccttga ctcataaaaa aaaaaaaaaa aaaaaaaaaa a
//
