LOCUS       NM_181843                816 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens nudix hydrolase 8 (NUDT8), transcript variant 2, mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_181843
VERSION     NM_181843.3
KEYWORDS    RefSeq.
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 816)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   2  (bases 1 to 816)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 816)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   4  (bases 1 to 816)
  AUTHORS   Gasmi,L. and McLennan,A.G.
  TITLE     The mouse Nudt7 gene encodes a peroxisomal nudix hydrolase specific
            for coenzyme A and its derivatives
  JOURNAL   Biochem J 357 (Pt 1), 33-38 (2001)
   PUBMED   11415433
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CB140633.1, BC018644.1 and AP003385.2.
            
            On May 31, 2019 this sequence version replaced NM_181843.2.
            
            Transcript Variant: This variant (2) retains an intron in the 3'
            coding region, which results in a frameshift, compared to variant
            1. It encodes isoform 2, which has a shorter and distinct
            C-terminus, compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC018644.1, CA431033.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA2153307,
                                           SAMEA2154529 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-7                 CB140633.1         1-7
            8-157               BC018644.1         1-150
            158-158             AP003385.2         28174-28174         c
            159-816             BC018644.1         152-809
FEATURES             Location/Qualifiers
     source          1..816
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.2"
     gene            1..816
                     /gene="NUDT8"
                     /note="nudix hydrolase 8"
                     /db_xref="GeneID:254552"
                     /db_xref="HGNC:HGNC:8055"
     exon            1..220
                     /gene="NUDT8"
                     /inference="alignment:Splign:2.1.0"
     CDS             27..449
                     /gene="NUDT8"
                     /EC_number="3.6.1.77"
                     /note="isoform 2 is encoded by transcript variant 2;
                     nucleoside diphosphate-linked moiety X motif 8,
                     mitochondrial; nudix motif 8; nudix (nucleoside
                     diphosphate linked moiety X)-type motif 8; mitochondrial
                     coenzyme A diphosphatase NUDT8"
                     /codon_start=1
                     /product="mitochondrial coenzyme A diphosphatase NUDT8
                     isoform 2"
                     /protein_id="NP_862826.1"
                     /db_xref="CCDS:CCDS8174.1"
                     /db_xref="GeneID:254552"
                     /db_xref="HGNC:HGNC:8055"
                     /translation="MLPDCLSAEGELRCRRLLAGATARLRARPASAAVLVPLCSVRGV
                     PALLYTLRSSRLTGRHKGDVSFPGGKCDPADQDVVHTALRETREELGLAVPEEHVWGL
                     LRPVYDPQKATVVPVLAGVGPLDPQSLRPNSEEVSWGI"
     exon            221..353
                     /gene="NUDT8"
                     /inference="alignment:Splign:2.1.0"
     exon            354..816
                     /gene="NUDT8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      794..799
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NUDT8"
                     /note="hexamer: AATAAA"
     polyA_site      816
                     /gene="NUDT8"
                     /note="major polyA site"
ORIGIN      
        1 agtgtcccgg ccgcgcagga cttgacatgc tgcccgactg cctgtcggcc gagggcgagc
       61 tgcgctgccg ccggctgctg gcaggggcca cggcccggct ccgcgcgcgg cccgcgtcgg
      121 ccgcggtgct cgtgccgctc tgctcagtgc gtggggtccc ggcgctgctg tacacgctgc
      181 ggtccagccg cctgaccggg aggcacaagg gcgacgtcag tttcccaggc ggcaagtgcg
      241 acccggctga ccaagatgtg gtgcacacgg ccctgcggga aacccgggag gagctgggcc
      301 tggcagtgcc cgaggagcac gtgtggggcc tgctgcggcc tgtgtatgat ccgcaaaagg
      361 ccaccgtggt gccagtgctt gctggtgtag gcccactgga tccccagagc ctcaggccca
      421 actcggagga ggtgagctgg gggatatgag ggggttgggc tgttccagtc ctctgtctac
      481 cctctctgcc tcctgcctgc aggtagatga ggtgtttgca ctgccgctgg cccacctgct
      541 gcagacgcag aatcagggct atacccactt ctgccggggt ggccacttcc gctacacact
      601 acccgtcttc ctgcatggac cacaccgggt ctggggcctc acagctgtca tcactgagtt
      661 tgccctgcag ctgctggcac ctggtaccta ccagccccgc ctggccggcc tgacctgctc
      721 aggggctgag ggtctggccc gccctaagca gcccctggct tcaccctgtc aggccagctc
      781 cactccagga ctgaataaag gtctttgaca gctcta
//
