LOCUS       NM_000668               4067 bp    mRNA    linear   PRI 24-SEP-2024
DEFINITION  Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide
            (ADH1B), transcript variant 1, mRNA.
ACCESSION   NM_000668
VERSION     NM_000668.6
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 4067)
  AUTHORS   Yokoyama,A., Yokoyama,T., Yumoto,Y., Takimura,T., Toyama,T.,
            Yoneda,J., Nishimura,K., Minobe,R., Matsuzaki,T., Kimura,M. and
            Matsushita,S.
  TITLE     Associations of ADH1B and ALDH2 genotypes and alcohol flushing with
            drinking history, withdrawal symptoms, and ICD-10 criteria in
            Japanese alcohol-dependent men
  JOURNAL   Pharmacogenet Genomics 34 (5), 139-148 (2024)
   PUBMED   38465575
  REMARK    GeneRIF: Associations of ADH1B and ALDH2 genotypes and alcohol
            flushing with drinking history, withdrawal symptoms, and ICD-10
            criteria in Japanese alcohol-dependent men.
REFERENCE   2  (bases 1 to 4067)
  AUTHORS   Gautheron,J., Elsayed,S., Pistorio,V., Lockhart,S., Zammouri,J.,
            Auclair,M., Koulman,A., Meadows,S.R., Lhomme,M., Ponnaiah,M.,
            Si-Bouazza,R., Fabrega,S., Belkadi,A., Delaunay,J.L.,
            Ait-Slimane,T., Feve,B., Vigouroux,C., Abdel Ghaffar,T.Y.,
            O'Rahilly,S. and Jeru,I.
  CONSRTM   Qatar Genome Project
  TITLE     ADH1B, the adipocyte-enriched alcohol dehydrogenase, plays an
            essential, cell-autonomous role in human adipogenesis
  JOURNAL   Proc Natl Acad Sci U S A 121 (24), e2319301121 (2024)
   PUBMED   38838011
  REMARK    GeneRIF: ADH1B, the adipocyte-enriched alcohol dehydrogenase, plays
            an essential, cell-autonomous role in human adipogenesis.
REFERENCE   3  (bases 1 to 4067)
  AUTHORS   Chuah,M.H., Leask,M.P., Topless,R.K., Gamble,G.D., Sumpter,N.A.,
            Stamp,L.K., Merriman,T.R. and Dalbeth,N.
  TITLE     Interaction of genetic variation at ADH1B and MLXIPL with alcohol
            consumption for elevated serum urate level and gout among people of
            European ethnicity
  JOURNAL   Arthritis Res Ther 26 (1), 45 (2024)
   PUBMED   38331848
  REMARK    GeneRIF: Interaction of genetic variation at ADH1B and MLXIPL with
            alcohol consumption for elevated serum urate level and gout among
            people of European ethnicity.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4067)
  AUTHORS   Yin,D., Zhang,Y., Li,H. and Cheng,L.
  TITLE     Association of TOP2A and ADH1B with lipid levels and prognosis in
            patients with lung adenocarcinoma and squamous cell carcinoma
  JOURNAL   Clin Respir J 17 (12), 1301-1315 (2023)
   PUBMED   37985446
  REMARK    GeneRIF: Association of TOP2A and ADH1B with lipid levels and
            prognosis in patients with lung adenocarcinoma and squamous cell
            carcinoma.
REFERENCE   5  (bases 1 to 4067)
  AUTHORS   Jiang,C., Liu,R. and Wu,X.
  TITLE     Alcohol dehydrogenase-1B represses the proliferation, invasion and
            migration of breast cancer cells by inactivating the
            mitogen-activated protein kinase signalling pathway
  JOURNAL   J Physiol Pharmacol 74 (5) (2023)
   PUBMED   38085522
  REMARK    GeneRIF: Alcohol dehydrogenase-1B represses the proliferation,
            invasion and migration of breast cancer cells by inactivating the
            mitogen-activated protein kinase signalling pathway.
REFERENCE   6  (bases 1 to 4067)
  AUTHORS   Hurley,T.D., Bosron,W.F., Hamilton,J.A. and Amzel,L.M.
  TITLE     Structure of human beta 1 beta 1 alcohol dehydrogenase: catalytic
            effects of non-active-site substitutions
  JOURNAL   Proc Natl Acad Sci U S A 88 (18), 8149-8153 (1991)
   PUBMED   1896463
REFERENCE   7  (bases 1 to 4067)
  AUTHORS   Winter,L.A., Stewart,M.J., Shean,M.L., Dong,Y., Poellinger,L.,
            Okret,S., Gustafsson,J.A. and Duester,G.
  TITLE     A hormone response element upstream from the human alcohol
            dehydrogenase gene ADH2 consists of three tandem glucocorticoid
            receptor binding sites
  JOURNAL   Gene 91 (2), 233-240 (1990)
   PUBMED   2210383
REFERENCE   8  (bases 1 to 4067)
  AUTHORS   Stewart,M.J., McBride,M.S., Winter,L.A. and Duester,G.
  TITLE     Promoters for the human alcohol dehydrogenase genes ADH1, ADH2, and
            ADH3: interaction of CCAAT/enhancer-binding protein with elements
            flanking the ADH2 TATA box
  JOURNAL   Gene 90 (2), 271-279 (1990)
   PUBMED   2169444
REFERENCE   9  (bases 1 to 4067)
  AUTHORS   Carr,L.G. and Edenberg,H.J.
  TITLE     cis-acting sequences involved in protein binding and in vitro
            transcription of the human alcohol dehydrogenase gene ADH2
  JOURNAL   J Biol Chem 265 (3), 1658-1664 (1990)
   PUBMED   2295648
REFERENCE   10 (bases 1 to 4067)
  AUTHORS   Lange,L.G., Sytkowski,A.J. and Vallee,B.L.
  TITLE     Human liver alcohol dehydrogenase: purification, composition, and
            catalytic features
  JOURNAL   Biochemistry 15 (21), 4687-4693 (1976)
   PUBMED   9982
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC033009.2, AF153821.1,
            AK301018.1, AC097530.3 and BU687181.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000668.5.
            
            Summary: The protein encoded by this gene is a member of the
            alcohol dehydrogenase family. Members of this enzyme family
            metabolize a wide variety of substrates, including ethanol,
            retinol, other aliphatic alcohols, hydroxysteroids, and lipid
            peroxidation products. This encoded protein, consisting of several
            homo- and heterodimers of alpha, beta, and gamma subunits, exhibits
            high activity for ethanol oxidation and plays a major role in
            ethanol catabolism. Three genes encoding alpha, beta and gamma
            subunits are tandemly organized in a genomic segment as a gene
            cluster. Two transcript variants encoding different isoforms have
            been found for this gene. [provided by RefSeq, Nov 2013].
            
            Transcript Variant: This variant (1) encodes the longer 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.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: FJ224285.1, AF153821.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2162895, SAMN03267776
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000305046.13/ ENSP00000306606.8
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-212               BC033009.2         1-212
            213-822             AF153821.1         211-820
            823-1083            AK301018.1         945-1205
            1084-1790           BC033009.2         1084-1790
            1791-2626           AC097530.3         39009-39844         c
            2627-2651           BU687181.1         16-40               c
            2652-4067           AC097530.3         37568-38983         c
FEATURES             Location/Qualifiers
     source          1..4067
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q23"
     gene            1..4067
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
                     /note="alcohol dehydrogenase 1B (class I), beta
                     polypeptide"
                     /db_xref="GeneID:125"
                     /db_xref="HGNC:HGNC:250"
                     /db_xref="MIM:103720"
     exon            1..88
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
                     /inference="alignment:Splign:2.1.0"
     CDS             71..1198
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
                     /EC_number="1.1.1.105"
                     /note="isoform 1 is encoded by transcript variant 1; ADH,
                     beta subunit; alcohol dehydrogenase 2 (class I), beta
                     polypeptide; aldehyde reductase; alcohol dehydrogenase
                     subunit beta; epididymis secretory protein Li 117;
                     all-trans-retinol dehydrogenase [NAD(+)] ADH1B"
                     /codon_start=1
                     /product="all-trans-retinol dehydrogenase [NAD(+)] ADH1B
                     isoform 1"
                     /protein_id="NP_000659.2"
                     /db_xref="CCDS:CCDS34033.1"
                     /db_xref="GeneID:125"
                     /db_xref="HGNC:HGNC:250"
                     /db_xref="MIM:103720"
                     /translation="MSTAGKVIKCKAAVLWEVKKPFSIEDVEVAPPKAYEVRIKMVAV
                     GICHTDDHVVSGNLVTPLPVILGHEAAGIVESVGEGVTTVKPGDKVIPLFTPQCGKCR
                     VCKNPESNYCLKNDLGNPRGTLQDGTRRFTCRGKPIHHFLGTSTFSQYTVVDENAVAK
                     IDAASPLEKVCLIGCGFSTGYGSAVNVAKVTPGSTCAVFGLGGVGLSAVMGCKAAGAA
                     RIIAVDINKDKFAKAKELGATECINPQDYKKPIQEVLKEMTDGGVDFSFEVIGRLDTM
                     MASLLCCHEACGTSVIVGVPPASQNLSINPMLLLTGRTWKGAVYGGFKSKEGIPKLVA
                     DFMAKKFSLDALITHVLPFEKINEGFDLLHSGKSIRTVLTF"
     exon            89..190
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
                     /inference="alignment:Splign:2.1.0"
     exon            191..329
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
                     /inference="alignment:Splign:2.1.0"
     exon            330..417
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
                     /inference="alignment:Splign:2.1.0"
     exon            418..637
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
                     /inference="alignment:Splign:2.1.0"
     exon            638..898
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
                     /inference="alignment:Splign:2.1.0"
     exon            899..1034
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
                     /inference="alignment:Splign:2.1.0"
     exon            1035..1173
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
                     /inference="alignment:Splign:2.1.0"
     exon            1174..4067
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1394..1399
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
                     /note="hexamer: AATAAA"
     polyA_site      1412
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
                     /note="major polyA site"
     regulatory      1765..1770
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
                     /note="hexamer: AATAAA"
     polyA_site      1790
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
                     /note="major polyA site"
     polyA_site      2459
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
     regulatory      2516..2521
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
                     /note="hexamer: AGTAAA"
     polyA_site      2537
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
                     /note="major polyA site"
     regulatory      2632..2637
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
                     /note="hexamer: ATTAAA"
     polyA_site      2656
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
     regulatory      3823..3828
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
                     /note="hexamer: AATATA"
     polyA_site      3841
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
     regulatory      3934..3939
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
                     /note="hexamer: AATAGA"
     polyA_site      3947
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
     polyA_site      3955
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
     regulatory      4046..4051
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
                     /note="hexamer: AATAAA"
     polyA_site      4067
                     /gene="ADH1B"
                     /gene_synonym="ADH2; HEL-S-117"
ORIGIN      
        1 atgcactcaa gcagagaaga aatccacaaa gactcacagt ctgctggtgg gcagagaaga
       61 cagaaacgac atgagcacag caggaaaagt aatcaaatgc aaagcagctg tgctatggga
      121 ggtaaagaaa cccttttcca ttgaggatgt ggaggttgca cctcctaagg cttatgaagt
      181 tcgcattaag atggtggctg taggaatctg tcacacagat gaccacgtgg ttagtggcaa
      241 cctggtgacc ccccttcctg tgattttagg ccatgaggca gccggcatcg tggagagtgt
      301 tggagaaggg gtgactacag tcaaaccagg tgataaagtc atcccgctct ttactcctca
      361 gtgtggaaaa tgcagagttt gtaaaaaccc ggagagcaac tactgcttga aaaatgatct
      421 aggcaatcct cgggggaccc tgcaggatgg caccaggagg ttcacctgca gggggaagcc
      481 cattcaccac ttccttggca ccagcacctt ctcccagtac acggtggtgg atgagaatgc
      541 agtggccaaa attgatgcag cctcgcccct ggagaaagtc tgcctcattg gctgtggatt
      601 ctcgactggt tatgggtctg cagttaacgt tgccaaggtc accccaggct ctacctgtgc
      661 tgtgtttggc ctgggagggg tcggcctatc tgctgttatg ggctgtaaag cagctggagc
      721 agccagaatc attgcggtgg acatcaacaa ggacaaattt gcaaaggcca aagagttggg
      781 tgccactgaa tgcatcaacc ctcaagacta caagaaaccc attcaggaag tgctaaagga
      841 aatgactgat ggaggtgtgg atttttcgtt tgaagtcatc ggtcggcttg acaccatgat
      901 ggcttccctg ttatgttgtc atgaggcatg tggcacaagc gtcatcgtag gggtacctcc
      961 tgcttcccag aacctctcaa taaaccctat gctgctactg actggacgca cctggaaggg
     1021 ggctgtttat ggtggcttta agagtaaaga aggtatccca aaacttgtgg ctgattttat
     1081 ggctaagaag ttttcactgg atgcgttaat aacccatgtt ttaccttttg aaaaaataaa
     1141 tgaaggattt gacctgcttc actctgggaa aagtatccgt accgtcctga cgttttgagg
     1201 caatagagat gccttcccct gtagcagtct tcagcctcct ctaccctaca agatctggag
     1261 caacagctag gaaatatcat taattcagct cttcagagat gttatcaata aattacacat
     1321 gggggctttc caaagaaatg gaaattgatg ggaaattatt tttcaggaaa atttaaaatt
     1381 caagtgagaa gtaaataaag tgttgaacat cagctgggga attgaagcca acaaaccttc
     1441 cttcttaacc attctactgt gtcacctttg ccattgagga aaaatattcc tgtgacttct
     1501 tgcatttttg gtatcttcat aatctttagt catcgaatcc cagtggaggg gaccctttta
     1561 cttgccctga acatacacat gctgggccat tgtgattgaa gtcttctaac tctgtctcag
     1621 ttttcactgt cgacattttc ctttttctaa taaaaatgta ccaaatccct ggggtaaaag
     1681 ctagggtaag gtaaaggata gactcacatt tacaagtagt gaaggtccaa gagttctaaa
     1741 tacaggaaat ttcttaggaa ctcaaataaa atgccccaca ttttactaca gtaaatggca
     1801 gtgtttttat gacttttata ctatttcttt atggtcgata tacaattgat tttttaaaat
     1861 aatagcagat ttcttgcttc atatgacaaa gcctcaatta ctaattgtaa aaactgaact
     1921 attcccagaa tcatgttcaa aaaatctgta atttttgctg atgaaagtgc ttcattgact
     1981 aaacagtatt agtttgtggc tataaatgat tatttagatg atgactgaaa atgtgtataa
     2041 agtaattaaa agtaatatgg tggctttaag tgtagagatg ggatggcaaa tgctgtgaat
     2101 gcagaatgta aaattggtaa ctaagaaatg gcacaaacac cttaagcaat atattttcct
     2161 agtagatata tatatacaca tacatatata cacatataca aatgtatatt tttgcaaaat
     2221 tgttttcaat ctagaacttt tctattaact accatgtctt aaaatcaagt ctataatcct
     2281 agcattagtt taatattttg aatatgtaaa gacctgtgtt aatgctttgt taatgctttt
     2341 cccactctca tttgttaatg ctttcccact ctcaggggaa ggatttgcat tttgagcttt
     2401 atctctaaat gtgacatgca aagattattc ctggtaaagg aggtagctgt ctccaaaaat
     2461 gctattgttg caatatctac attctatttc atattatgaa agaccttaga cataaagtaa
     2521 aatagtttat catttactgt gtgatcttca gtaagtctct caggctctct gagcttgttc
     2581 atcctttgtt ttgaaaaaat tactcaacca atccattaca gcttaaccaa gattaaatgg
     2641 gatgatgtta atgaaagagc ttcgccaatt aagaagggcc atgtaaatgt gggtaacctg
     2701 attgttttgt caaaaatgct aaagcggggt ggggggtggc gcagtggctt atccctgtaa
     2761 tcccagcact ttgggaggtc aagacgggtg gatgacctga ggtcaggagt ttgagaccag
     2821 cctggtcaac atggtgaaac cccatctcta ctaaaaatac aaaaatttgc caggcatggt
     2881 ggcaggtggc tgtaatccca gctactcagg aggctgaggc aagagaatcg ctggagcctg
     2941 ggaggcggag gttgcagtga gcagaaatct tgccactgca cagcagccta ggcgacaaga
     3001 gcaaaactct gtcaaaagaa aagaaaagaa aatgctgaag gagttactca gggtcaagaa
     3061 agttttcaga atgtccgtaa gataacatca tcatgggaca ctacctgttg ctgggtgctc
     3121 tgcggctttt acactgatgc tgattgtgtg agatccagaa aaagaaaatg gagttctaca
     3181 tgcccatctc acagcagggt catcaaatcc tgctagtgac acagaagctg acatccagct
     3241 cccacccgcc ttcctcccag gttcggggag caggtagagt gggagccatt aggtgggctc
     3301 tgccagtgtt gtcatagagt ggcaagtcct ccatgggatg ggagtggcat gtgggagcct
     3361 tctgcatcat gcactatgaa aaaagaaaat ttactatggg gcaagtggtt catatagtta
     3421 agtgattgta tatatatata tatatatata tatatatata tatatatata tatatacact
     3481 atggggcaag tggttcatat agttaagtga ttgtatatat atatatatat atatatgtat
     3541 tccagtgtag aaagtattgg ctgggtctgt aatcaagtat tccacagaag tgccttcata
     3601 ggtgctgaaa caggattatg agagtgacag acacaggact gaagacaggg agaaaatgtg
     3661 catggctgtg agaatatatt gctttgattc tttgacttct catgatatat gaaaacaaat
     3721 aaagtggggg ggggtgactt caataatatc acgaacatat ttaaaatgaa attctgagca
     3781 tggagaaaaa tttcaaattc tggtataaac aaataatcta aaaatataga taaggaaaaa
     3841 atgttttcat ttttttggtc atattgattt gggtcatata tgattgacca aaaaaaaaga
     3901 tatttctaaa atcctggtgc tttttcattt aaaaatagac aaccaaagag gaaaatgaac
     3961 aatgatggaa attcgtggaa gaggaaacta aaatggcaaa atagcatatt aaatggcact
     4021 gagccttggt gtgatcaaaa aaaaaaataa agcaaaatga gatatta
//
