LOCUS       NM_024854               4075 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 1
            (PYROXD1), transcript variant 1, mRNA.
ACCESSION   NM_024854
VERSION     NM_024854.5
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 4075)
  AUTHORS   Evesson,F.J., Dziaduch,G., Bryen,S.J., Moore,F., Pittman,S.,
            Devanapalli,B., Waddell,L.B., Ryan,M.M., Menezes,M.P., Weihl,C.C.,
            Tolun,A.A., Zaidman,C., Young,H., Ades,L.C. and Cooper,S.T.
  TITLE     Connective tissue presentation in two families expands the
            phenotypic spectrum of PYROXD1 disorders
  JOURNAL   Hum Mol Genet 32 (12), 2084-2092 (2023)
   PUBMED   36920481
  REMARK    GeneRIF: Connective tissue presentation in two families expands the
            phenotypic spectrum of PYROXD1 disorders.
REFERENCE   2  (bases 1 to 4075)
  AUTHORS   Asanovic,I., Strandback,E., Kroupova,A., Pasajlic,D., Meinhart,A.,
            Tsung-Pin,P., Djokovic,N., Anrather,D., Schuetz,T.,
            Suskiewicz,M.J., Sillamaa,S., Kocher,T., Beveridge,R., Nikolic,K.,
            Schleiffer,A., Jinek,M., Hartl,M., Clausen,T., Penninger,J.,
            Macheroux,P., Weitzer,S. and Martinez,J.
  TITLE     The oxidoreductase PYROXD1 uses NAD(P)+ as an antioxidant to
            sustain tRNA ligase activity in pre-tRNA splicing and unfolded
            protein response
  JOURNAL   Mol Cell 81 (12), 2520-2532 (2021)
   PUBMED   33930333
  REMARK    GeneRIF: The oxidoreductase PYROXD1 uses NAD(P)(+) as an
            antioxidant to sustain tRNA ligase activity in pre-tRNA splicing
            and unfolded protein response.
REFERENCE   3  (bases 1 to 4075)
  AUTHORS   Daimaguler,H.S., Akpulat,U., Ozdemir,O., Yis,U., Gungor,S.,
            Talim,B., Diniz,G., Baydan,F., Thiele,H., Altmuller,J., Nurnberg,P.
            and Cirak,S.
  TITLE     Clinical and genetic characterization of PYROXD1-related myopathy
            patients from Turkey
  JOURNAL   Am J Med Genet A 185 (6), 1678-1690 (2021)
   PUBMED   33694278
  REMARK    GeneRIF: Clinical and genetic characterization of PYROXD1-related
            myopathy patients from Turkey.
REFERENCE   4  (bases 1 to 4075)
  AUTHORS   Woods,J.D., Khanlou,N., Lee,H., Signer,R., Shieh,P., Chen,J.,
            Herzog,M., Palmer,C., Martinez-Agosto,J. and Nelson,S.F.
  CONSRTM   Undiagnosed Diseases Network
  TITLE     Myopathy associated with homozygous PYROXD1 pathogenic variants
            detected by genome sequencing
  JOURNAL   Neuropathology 40 (3), 302-307 (2020)
   PUBMED   32037607
  REMARK    GeneRIF: Myopathy associated with homozygous PYROXD1 pathogenic
            variants detected by genome sequencing.
REFERENCE   5  (bases 1 to 4075)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 4075)
  AUTHORS   Shabani,S., Mahjoubi,F. and Moosavi,M.A.
  TITLE     A siRNA-based method for efficient silencing of PYROXD1 gene
            expression in the colon cancer cell line HCT116
  JOURNAL   J Cell Biochem 120 (12), 19310-19317 (2019)
   PUBMED   31502705
  REMARK    GeneRIF: A siRNA-based method for efficient silencing of PYROXD1
            gene expression in the colon cancer cell line HCT116.
REFERENCE   7  (bases 1 to 4075)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 4075)
  AUTHORS   Sainio,M.T., Valipakka,S., Rinaldi,B., Lapatto,H., Paetau,A.,
            Ojanen,S., Brilhante,V., Jokela,M., Huovinen,S., Auranen,M.,
            Palmio,J., Friant,S., Ylikallio,E., Udd,B. and Tyynismaa,H.
  TITLE     Recessive PYROXD1 mutations cause adult-onset limb-girdle-type
            muscular dystrophy
  JOURNAL   J Neurol 266 (2), 353-360 (2019)
   PUBMED   30515627
  REMARK    GeneRIF: PYROXD1 variants can cause an adult-onset slowly
            progressive limb-girdle muscular dystrophy-type phenotype.
REFERENCE   9  (bases 1 to 4075)
  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
  REMARK    GeneRIF: Pyroxd1 pathogenic mutations in the limb-girdle muscular
            dystrophy patients from Saudi Arabia and Sudan.
REFERENCE   10 (bases 1 to 4075)
  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
  REMARK    GeneRIF: We characterize variants in the oxidoreductase PYROXD1 as
            a cause of early-onset myopathy with distinctive histopathology and
            introduce altered redox regulation as a primary cause of congenital
            muscle disease.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB041552.1, AL832441.1,
            AC006559.6 and BM980368.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_024854.4.
            
            Summary: This gene encodes a nuclear-cytoplasmic pyridine
            nucleotide-disulphide reductase (PNDR). PNDRs are flavoproteins
            that catalyze the pyridine nucleotide-dependent reduction of thiol
            residues in other proteins. The encoded protein belongs to the
            class I pyridine nucleotide-disulphide oxidoreductase family but
            lacks the C-terminal dimerization domain found in other family
            members and instead has a C-terminal nitrile reductase domain. It
            localizes to the nucleus and to striated sarcomeric compartments.
            Naturally occurring mutations in this gene cause early-onset
            myopathy with internalized nuclei and myofibrillar disorganization.
            A pseudogene of this gene has been defined on chromosome 11.
            [provided by RefSeq, Apr 2017].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            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 :: SRR1803614.264120.1,
                                           SRR1803616.114822.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000240651.14/ ENSP00000240651.9
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-22                DB041552.1         52-73
            23-1707             AL832441.1         1-1685
            1708-3783           AC006559.6         100356-102431
            3784-4075           BM980368.1         11-302              c
FEATURES             Location/Qualifiers
     source          1..4075
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p12.1"
     gene            1..4075
                     /gene="PYROXD1"
                     /gene_synonym="MFM8"
                     /note="pyridine nucleotide-disulphide oxidoreductase
                     domain 1"
                     /db_xref="GeneID:79912"
                     /db_xref="HGNC:HGNC:26162"
                     /db_xref="MIM:617220"
     exon            1..160
                     /gene="PYROXD1"
                     /gene_synonym="MFM8"
                     /inference="alignment:Splign:2.1.0"
     CDS             77..1579
                     /gene="PYROXD1"
                     /gene_synonym="MFM8"
                     /EC_number="1.8.1.-"
                     /note="isoform 1 is encoded by transcript variant 1;
                     pyridine nucleotide-disulfide oxidoreductase
                     domain-containing protein 1"
                     /codon_start=1
                     /product="pyridine nucleotide-disulfide oxidoreductase
                     domain-containing protein 1 isoform 1"
                     /protein_id="NP_079130.2"
                     /db_xref="CCDS:CCDS31755.1"
                     /db_xref="GeneID:79912"
                     /db_xref="HGNC:HGNC:26162"
                     /db_xref="MIM:617220"
                     /translation="MEAARPPPTAGKFVVVGGGIAGVTCAEQLATHFPSEDILLVTAS
                     PVIKAVTNFKQISKILEEFDVEEQSSTMLGKRFPNIKVIESGVKQLKSEEHCIVTEDG
                     NQHVYKKLCLCAGAKPKLICEGNPYVLGIRDTDSAQEFQKQLTKAKRIMIIGNGGIAL
                     ELVYEIEGCEVIWAIKDKAIGNTFFDAGAAEFLTSKLIAEKSEAKIAHKRTRYTTEGR
                     KKEARSKSKADNVGSALGPDWHEGLNLKGTKEFSHKIHLETMCEVKKIYLQDEFRILK
                     KKSFTFPRDHKSVTADTEMWPVYVELTNEKIYGCDFIVSATGVTPNVEPFLHGNSFDL
                     GEDGGLKVDDHMHTSLPDIYAAGDICTTSWQLSPVWQQMRLWTQARQMGWYAAKCMAA
                     ASSGDSIDMDFSFELFAHVTKFFNYKVVLLGKYNAQGLGSDHELMLRCTKGREYIKVV
                     MQNGRMMGAVLIGETDLEETFENLILNQMNLSSYGEDLLDPNIDIEDYFD"
     exon            161..241
                     /gene="PYROXD1"
                     /gene_synonym="MFM8"
                     /inference="alignment:Splign:2.1.0"
     exon            242..361
                     /gene="PYROXD1"
                     /gene_synonym="MFM8"
                     /inference="alignment:Splign:2.1.0"
     exon            362..490
                     /gene="PYROXD1"
                     /gene_synonym="MFM8"
                     /inference="alignment:Splign:2.1.0"
     exon            491..564
                     /gene="PYROXD1"
                     /gene_synonym="MFM8"
                     /inference="alignment:Splign:2.1.0"
     exon            565..725
                     /gene="PYROXD1"
                     /gene_synonym="MFM8"
                     /inference="alignment:Splign:2.1.0"
     exon            726..826
                     /gene="PYROXD1"
                     /gene_synonym="MFM8"
                     /inference="alignment:Splign:2.1.0"
     exon            827..956
                     /gene="PYROXD1"
                     /gene_synonym="MFM8"
                     /inference="alignment:Splign:2.1.0"
     exon            957..1069
                     /gene="PYROXD1"
                     /gene_synonym="MFM8"
                     /inference="alignment:Splign:2.1.0"
     exon            1070..1192
                     /gene="PYROXD1"
                     /gene_synonym="MFM8"
                     /inference="alignment:Splign:2.1.0"
     exon            1193..1330
                     /gene="PYROXD1"
                     /gene_synonym="MFM8"
                     /inference="alignment:Splign:2.1.0"
     exon            1331..4075
                     /gene="PYROXD1"
                     /gene_synonym="MFM8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4056..4061
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PYROXD1"
                     /gene_synonym="MFM8"
                     /note="hexamer: AATAAA"
     polyA_site      4075
                     /gene="PYROXD1"
                     /gene_synonym="MFM8"
                     /note="major polyA site"
ORIGIN      
        1 ggctgcttcc tctcctggag tccagagtcc cgttgctccg ccgcgatatt cagtaaacca
       61 ctgggagtcc ggcagcatgg aggcagcgcg ccctcccccg acggcaggga agttcgtggt
      121 ggtcggcggc ggcatcgcgg gcgtcacttg tgcggagcag ttggctactc actttccatc
      181 ggaagatatt ctcttggtaa cagcttctcc tgttattaaa gcagttacaa atttcaagca
      241 gatttctaaa atattggaag aattcgatgt tgaagaacaa tcaagtacca tgttaggaaa
      301 acgctttccc aacattaagg ttatagaatc tggcgtaaag caactgaaga gtgaagaaca
      361 ctgcattgta acagaagatg gcaatcagca cgtatataag aaactctgtc tgtgtgctgg
      421 agctaaacca aagttgatat gtgaaggaaa tccttatgta ttaggaatcc gtgatacaga
      481 cagtgctcag gaatttcaga aacagcttac taaagctaaa agaataatga tcatagggaa
      541 cggtggtatt gcacttgagt tagtgtatga aattgaaggc tgtgaagtga tttgggccat
      601 taaagataaa gctataggga atactttctt cgatgcagga gcagctgaat tcttgacttc
      661 aaagctcatt gctgaaaaat cagaggctaa aattgcacat aaaagaacca gatatacaac
      721 tgaaggaagg aaaaaggaag ctagaagcaa atctaaagca gataatgtag gaagtgcatt
      781 gggaccagat tggcatgaag gcttgaatct taaaggaaca aaagagtttt ctcataagat
      841 tcaccttgaa actatgtgtg aagtaaagaa aatctacctt caggatgagt ttagaatttt
      901 gaagaaaaag tccttcactt ttccaagaga ccataagtca gttacagctg atacagagat
      961 gtggcctgtc tatgtggaat tgaccaatga aaagatatat ggctgcgatt tcattgtcag
     1021 tgctacagga gttacaccaa atgtagaacc ttttctccat ggtaacagtt ttgatctagg
     1081 agaagatggt ggcctgaaag tggatgatca tatgcacaca tcccttcctg atatctatgc
     1141 tgccggtgac atctgtacta catcctggca gctgagccca gtctggcagc agatgaggct
     1201 gtggacccag gctagacaga tgggatggta tgcagcaaag tgcatggctg cagcgagttc
     1261 aggagactct attgacatgg atttcagctt tgaactgttt gctcatgtga caaaattttt
     1321 taactataag gttgtactgc tgggaaaata caatgcacag ggcttaggtt cagatcatga
     1381 attaatgctg agatgtacca aaggacgaga atacatcaaa gtcgtcatgc aaaatggacg
     1441 aatgatggga gctgtcttaa ttggtgaaac cgatttagaa gaaacatttg aaaacctaat
     1501 cttaaaccaa atgaatcttt catcatatgg agaagatctg ctagatccaa atattgatat
     1561 agaagattat tttgactaaa aatggaattt cttcaggaat catataaagt tccaaatgac
     1621 accagaaaaa tcacaagtca ataaaatgaa tgactgtatt gagttaatga tgaccacact
     1681 gaaaattaca gaagtgataa tgatattagt ggaaaaatat aaaaacataa attctaagtt
     1741 tgaaatcagt tcaaagttta tttatagata tatctttcca atacaacact gaccgcttag
     1801 ataaaaatct taagttattt atttctgtgt tttaaacata aatatgttta cttgtgattt
     1861 agctttggag caaatttagg taagttatct acttagccaa atgtactcta gtagactaga
     1921 accattcttt gtgaaatgtc aaaatatggc tatggtttca ggaactttaa aatcggttgt
     1981 attttacttt aaatagagat gtagcaatat ctcgtttgct aatatttata ttgatgactt
     2041 actccttttt tgttgaattg tacttctggt tttataacct gaaatcatct acaagcttgt
     2101 ccaactctag cccacgggtc taatgcagcc cagaacagct ttgaatgcag cccaacacaa
     2161 atctgtaaac tttcttaaaa catgagattt ttcttgcaat tttttttttt ttaagctcat
     2221 cagctatcgt cagtgttagc atattttatg tgcggcccaa gacaattctt cttccaatgt
     2281 ggctcaggga agccaaaaga ttggacatcc ctgatctaca tatttaactt aaagtatcac
     2341 tcagtgaacc tctgtcagta taatattgct ttcaaaaaga tggttatgtc aaaagaaaaa
     2401 atatagctaa gtatataaag gcataaaaaa cttaagacaa ttacatgaac ttattctcaa
     2461 atattttaca ttttttgtaa actttcttaa aacatgagat ttttcttgca attttttttt
     2521 taagctcatc agctatcatc agtgttagca tattttatgt gcggcccaag acaattcttc
     2581 ttccaatgtg gctcagggaa gccaaaagat tggacatcct tgatctacat atttaactta
     2641 aagtatcact cagtgagcct ctgtcagtat aatattgctt tcaaaaagat agttatgtca
     2701 aaagaaaaaa tatagctaag tatataaagg cataaaaaac ttaagacgat tgtatgaact
     2761 tattctcaaa tattttacat ttaaagggtt ttacataaaa atttttccct tgttttatac
     2821 tggaaaatta tataattcat gatctctaat tttcaaacat tctcaaaagt ttagatcttc
     2881 agagataagc tctgaaaata tagatccata catataaaat atctatgaaa ttcttttaaa
     2941 aactattgtc taactacaaa aataatggca tatacatgca taaaccatct ttaattagaa
     3001 aatttagtaa cattcatatc aggcatcatc gatttttctt ttcttagctc ctgtattctt
     3061 agaaccagat tgctgaagca tgtttgcagc cttcttctgg aagttgcctg aatttttttc
     3121 ctccatcttt ttatcacctt gttcagaatg acaagtttga gacgattcag cctacaaaaa
     3181 aaaaaaaaaa acaaagcaag caccttggta aaaatccagc tattcagttt tctcatgaga
     3241 ttaaatattt caaaatattc tttctgtatc agttggcttt ttaagtatac aggggtctag
     3301 ttttttatct acaaatttct attcaaatat gagctctatt ttgaataaaa ggggctacgt
     3361 tgtgagagaa gttctaaaga cctcaaatgt ccttagacac aatggcactt gacttgacat
     3421 gcttttgcag acttgatagt atttggttta aaacagtggt ttctaaccac tggaacagca
     3481 gaaacagact tctcaactat tagtaatcac aaccaaataa gagcagagtg cataacaaaa
     3541 ttagatattc aaacggagtc ctcccattcc aagaaactgg aaacccctag tttatgttaa
     3601 aaggccagtc taaattcttt cacttacatc tttacagaaa actatatttt ctctcttcca
     3661 tacccagaaa tctaatcaga aaactgactt ttctcatgtt caactggacc taggggaata
     3721 tgacagaaaa gcatcccata ggctttaata tactttttaa aatatataaa actgaaaatt
     3781 aatagccatt taccctgaaa gagttctgcg tggactttgt cacttgcata gtaatagcat
     3841 gtgcctcatt gttcagaaga ttagctttag gtcctatttt caaatacgaa atggtagcat
     3901 aagctgtaaa actgtagtct tctctgcaga aaataaaggc caacaataag aaagcttttg
     3961 aaggaatcac ggaaaacaaa tttataaaag aaataactat atgcgcagta attcttaaca
     4021 cattgacttg aaataataaa atttacaaga atgcaaataa agcctttaaa gaaaa
//
