LOCUS       NP_001004234             498 aa            linear   ROD 29-JUL-2024
DEFINITION  pyridine nucleotide-disulfide oxidoreductase domain-containing
            protein 1 [Rattus norvegicus].
ACCESSION   NP_001004234 XP_216307
VERSION     NP_001004234.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 498)
  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  (residues 1 to 498)
  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 XP_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..498
                     /organism="Rattus norvegicus"
                     /db_xref="taxon:10116"
                     /chromosome="4"
                     /map="4q44"
     Protein         1..498
                     /product="pyridine nucleotide-disulfide oxidoreductase
                     domain-containing protein 1"
                     /EC_number="1.8.1.-"
                     /calculated_mol_wt=55359
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0000250|UniProtKB:Q8WU10; propagated from
                     UniProtKB/Swiss-Prot (Q68FS6.1)"
     Region          84..495
                     /region_name="NirB"
                     /note="NAD(P)H-nitrite reductase, large subunit [Energy
                     production and conversion]; COG1251"
                     /db_xref="CDD:440863"
     CDS             1..498
                     /gene="Pyroxd1"
                     /coded_by="NM_001004234.1:43..1539"
                     /db_xref="GeneID:297708"
                     /db_xref="RGD:1303253"
ORIGIN      
        1 meaarpagtf vvvgggiagv tcaeqlainf paedillvta spvikavtnf kqvskvleef
       61 dveeqpstml enrfpnikvi esgvkqlksd khciftedgr eyvykklclc agakpklice
      121 gnpyvlgird tdsaqefqkq ltkarrimiv gnggialela yevevceviw aikdkaignt
      181 ffdagaaefl tsrllsekse aklahkrtiy tveeakkets tkskadyvgs algpdwhggl
      241 alkgteefsh sihietkcev kkiylqeefk imkkkslafp kdhhksvtvd kemwpvyvel
      301 tngsiygcdf lvsatgvtpn vqpflhgndf dlgedgglrv deqmrtslpd iyaagdicta
      361 cwppspvwqq mrlwtqarqm gcyaakcmaa atmghpidmd fsfelfahvt kffnykvvll
      421 gkynaqglgv dhelmlrctr gqeyikvvmh ngrmmgavli getdleetfe nlilnqmdls
      481 sygedllnpd idiedyfd
//
