LOCUS       NM_152740               1878 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens 3-hydroxyisobutyrate dehydrogenase (HIBADH),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_152740
VERSION     NM_152740.4
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 1878)
  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 1878)
  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   3  (bases 1 to 1878)
  AUTHORS   Tasi,Y.C., Chao,H.C., Chung,C.L., Liu,X.Y., Lin,Y.M., Liao,P.C.,
            Pan,H.A., Chiang,H.S., Kuo,P.L. and Lin,Y.H.
  TITLE     Characterization of 3-hydroxyisobutyrate dehydrogenase, HIBADH, as
            a sperm-motility marker
  JOURNAL   J Assist Reprod Genet 30 (4), 505-512 (2013)
   PUBMED   23423614
  REMARK    GeneRIF: HIBADH is involved in the mitochondrial function of
            spermatozoa, and maintains sperm motility. It may serve as a
            sperm-motility marker.
REFERENCE   4  (bases 1 to 1878)
  AUTHORS   Loupatty,F.J., van der Steen,A., Ijlst,L., Ruiter,J.P., Ofman,R.,
            Baumgartner,M.R., Ballhausen,D., Yamaguchi,S., Duran,M. and
            Wanders,R.J.
  TITLE     Clinical, biochemical, and molecular findings in three patients
            with 3-hydroxyisobutyric aciduria
  JOURNAL   Mol Genet Metab 87 (3), 243-248 (2006)
   PUBMED   16466957
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP343005.1, AB050000.1 and
            CA449571.1.
            
            On Nov 22, 2018 this sequence version replaced NM_152740.3.
            
            Summary: This gene encodes a mitochondrial 3-hydroxyisobutyrate
            dehydrogenase enzyme. The encoded protein plays a critical role in
            the catabolism of L-valine by catalyzing the oxidation of
            3-hydroxyisobutyrate to methylmalonate semialdehyde. [provided by
            RefSeq, Nov 2011].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.353344.1,
                                           SRR3476690.575608.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2155770 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000265395.7/ ENSP00000265395.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-8                 BP343005.1         119-126
            9-1859              AB050000.1         1-1851
            1860-1878           CA449571.1         17-35               c
FEATURES             Location/Qualifiers
     source          1..1878
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p15.2"
     gene            1..1878
                     /gene="HIBADH"
                     /gene_synonym="NS5ATP1"
                     /note="3-hydroxyisobutyrate dehydrogenase"
                     /db_xref="GeneID:11112"
                     /db_xref="HGNC:HGNC:4907"
                     /db_xref="MIM:608475"
     exon            1..186
                     /gene="HIBADH"
                     /gene_synonym="NS5ATP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             96..1106
                     /gene="HIBADH"
                     /gene_synonym="NS5ATP1"
                     /EC_number="1.1.1.31"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; 3-hydroxyisobutyrate dehydrogenase,
                     mitochondrial; 3'-hydroxyisobutyrate dehydrogenase;
                     epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="3-hydroxyisobutyrate dehydrogenase,
                     mitochondrial isoform 1 precursor"
                     /protein_id="NP_689953.1"
                     /db_xref="CCDS:CCDS5414.1"
                     /db_xref="GeneID:11112"
                     /db_xref="HGNC:HGNC:4907"
                     /db_xref="MIM:608475"
                     /translation="MAASLRLLGAASGLRYWSRRLRPAAGSFAAVCSRSVASKTPVGF
                     IGLGNMGNPMAKNLMKHGYPLIIYDVFPDACKEFQDAGEQVVSSPADVAEKADRIITM
                     LPTSINAIEAYSGANGILKKVKKGSLLIDSSTIDPAVSKELAKEVEKMGAVFMDAPVS
                     GGVGAARSGNLTFMVGGVEDEFAAAQELLGCMGSNVVYCGAVGTGQAAKICNNMLLAI
                     SMIGTAEAMNLGIRLGLDPKLLAKILNMSSGRCWSSDTYNPVPGVMDGVPSANNYQGG
                     FGTTLMAKDLGLAQDSATSTKSPILLGSLAHQIYRMMCAKGYSKKDFSSVFQFLREEE
                     TF"
     exon            187..347
                     /gene="HIBADH"
                     /gene_synonym="NS5ATP1"
                     /inference="alignment:Splign:2.1.0"
     exon            348..457
                     /gene="HIBADH"
                     /gene_synonym="NS5ATP1"
                     /inference="alignment:Splign:2.1.0"
     exon            458..579
                     /gene="HIBADH"
                     /gene_synonym="NS5ATP1"
                     /inference="alignment:Splign:2.1.0"
     exon            580..713
                     /gene="HIBADH"
                     /gene_synonym="NS5ATP1"
                     /inference="alignment:Splign:2.1.0"
     exon            714..790
                     /gene="HIBADH"
                     /gene_synonym="NS5ATP1"
                     /inference="alignment:Splign:2.1.0"
     exon            791..947
                     /gene="HIBADH"
                     /gene_synonym="NS5ATP1"
                     /inference="alignment:Splign:2.1.0"
     exon            948..1878
                     /gene="HIBADH"
                     /gene_synonym="NS5ATP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1858..1863
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HIBADH"
                     /gene_synonym="NS5ATP1"
                     /note="hexamer: AATAAA"
     polyA_site      1878
                     /gene="HIBADH"
                     /gene_synonym="NS5ATP1"
                     /note="major polyA site"
ORIGIN      
        1 gtgggcgagc cagccagtcc cgctgcacac gctcgcagtc tgtgggccct ccgggaggcg
       61 gcggaggtca ccgcggggag aggggcgggc gcagcatggc agcctcctta cggctcctcg
      121 gagctgcctc cggtctccgg tactggagcc ggcggctgcg gccggcagcc ggcagctttg
      181 cagcggtgtg ttctaggtca gtggcttcaa agactccagt tggattcatt ggactgggca
      241 acatggggaa tccaatggca aaaaatctca tgaaacatgg ctatccactt attatttatg
      301 atgtgttccc tgatgcctgc aaagagtttc aagatgcagg tgaacaggta gtatcttccc
      361 cagcagatgt tgctgaaaaa gctgacagaa ttattacaat gctgcccacc agtatcaatg
      421 caatagaagc ttattccgga gcaaatggga ttctaaaaaa agtgaagaag ggctcattat
      481 taatagattc cagcactatt gatcctgcag tttcaaaaga attggccaaa gaagttgaga
      541 aaatgggagc agttttcatg gatgcccctg tttctggtgg tgtaggagct gcacgatctg
      601 ggaacctcac gtttatggtg ggaggagttg aagatgaatt tgctgctgcc caagagttgc
      661 tggggtgcat gggctccaac gtggtgtact gtggagctgt tgggactggg caggcggcaa
      721 agatctgcaa caacatgctg ttagctatta gtatgattgg aactgctgaa gctatgaatc
      781 ttggaatcag gttagggctt gacccaaaac tactggctaa aatcctaaat atgagctcag
      841 gacggtgttg gtcaagtgac acttataatc ctgtacctgg agtgatggat ggcgttccct
      901 cggctaataa ctatcagggt ggatttggaa caacactcat ggctaaggat ctgggattgg
      961 cacaagactc tgctaccagc acaaagagcc caatccttct tggcagtctg gcccatcaga
     1021 tctacaggat gatgtgtgca aagggctact caaagaaaga cttctcatcc gtgttccagt
     1081 tcctacgaga ggaggagacc ttctgagtgt gccctttggc cacggacact gttgggaacc
     1141 aaactctgtc ttggagcctc cttttagctc actccacaag taaatggatt taatcaaagg
     1201 tcacctatct gcttttgatt gtctaggtca cagtaatccc taggattttt caccgcttat
     1261 tctttttgtc tttttaacaa acatattatc cgaatttttt ttctgcaagc cactgatagt
     1321 ctctgctaac tagcttaatt gaccttttta caaagtttga tccccaagca tcctcaacta
     1381 aatcattgaa tacttcaatc aggatattat ctgctttact ttacaaataa aaccaaatct
     1441 tttgtcaaca ggatgaaacc catcttaaag gaaagaaaag gaattggtgt gaagagagaa
     1501 gttagagaag ggaaatgcag tgaattacta tctgtgtcca tcaggaagtt tgtcctgtta
     1561 accaaatggt tactgcacta ccagggttac tggtttattt tccagggagc tgataaagca
     1621 ggagaactgt tgctgcatgt tttctatttg gactccgtca caatatggta ggatatccct
     1681 caccaactcc cgacactcag cagacttgtt tttatatttt tttctttctt gttcattctt
     1741 actacgtatt ttttgactta agaatgacat ctttagatgc atttcagagc caatgatgat
     1801 atttgcttta gataattatt atattattat aaatatagcc atattatttt gaattcaaat
     1861 aaatttctat actggtaa
//
