LOCUS       NM_000667               1454 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide
            (ADH1A), mRNA.
ACCESSION   NM_000667
VERSION     NM_000667.4
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 1454)
  AUTHORS   Khmelinskii,I. and Makarov,V.I.
  TITLE     Contrary to consensus, oxidation of ethanol by human alcohol
            dehydrogenase (ADH) 1A is activated by ATP
  JOURNAL   Biochimie 195, 67-70 (2022)
   PUBMED   34742856
  REMARK    GeneRIF: Contrary to consensus, oxidation of ethanol by human
            alcohol dehydrogenase (ADH) 1A is activated by ATP.
REFERENCE   2  (bases 1 to 1454)
  AUTHORS   Lee,Y.J., Yoo,M.G., Kim,H.K., Jang,H.B., Park,K.J., Lee,H.J.,
            Kim,S.G. and Park,S.I.
  TITLE     The association between alcohol metabolism and genetic variants of
            ADH1A, SRPRB, and PGM1 in Korea
  JOURNAL   Alcohol 79, 137-145 (2019)
   PUBMED   31002879
  REMARK    GeneRIF: Variation of ADH1A was significantly associated with blood
            acetaldehyde concentrations, which may contribute to slow alcohol
            metabolism and result in increased blood acetaldehyde levels in
            Korean subjects.
REFERENCE   3  (bases 1 to 1454)
  AUTHORS   Cui,Q., Peng,L., Wei,L., Chang,J., Tan,W., Luo,Y., Huang,X.,
            Zhao,Y., Li,J., Chu,J., Shao,M., Zhang,C., Li,C., Tan,W., Lin,D.
            and Wu,C.
  TITLE     Genetic variant repressing ADH1A expression confers susceptibility
            to esophageal squamous-cell carcinoma
  JOURNAL   Cancer Lett 421, 43-50 (2018)
   PUBMED   29248712
  REMARK    GeneRIF: We demonstrated for the first time that rs1154402C>G
            change in in intron 1 of ADH5 might create a silencer, repressing
            ADH1A transcription via long-range interaction with ADH1A promoter
REFERENCE   4  (bases 1 to 1454)
  AUTHORS   Jelski,W., Wolszczak-Biedrzycka,B., Zasimowicz-Majewska,E.,
            Orywal,K., Piechota,J., Lapinski,T.W., Bednarczyk,M. and
            Szmitkowski,M.
  TITLE     The Activity of Alcohol Dehydrogenase Isoenzymes and Aldehyde
            Dehydrogenase in the Sera of Patients with Autoimmune Hepatitis
  JOURNAL   Clin Lab 64 (4), 477-481 (2018)
   PUBMED   29739065
  REMARK    GeneRIF: The activity of total alcohol dehydrogenase (ADH) and
            class I isoenzymes in the sera of autoimmune hepatitis patients is
            increased and aldehyde dehydrogenase (ALDH) levels were unchanged.
REFERENCE   5  (bases 1 to 1454)
  AUTHORS   Orywal,K., Jelski,W., Werel,T. and Szmitkowski,M.
  TITLE     The Diagnostic Significance of Serum Alcohol Dehydrogenase
            Isoenzymes and Aldehyde Dehydrogenase Activity in Prostate Cancer
            Patients
  JOURNAL   Anticancer Res 37 (9), 4961-4965 (2017)
   PUBMED   28870918
  REMARK    GeneRIF: High ADH expression is associated with Prostate Cancer.
REFERENCE   6  (bases 1 to 1454)
  AUTHORS   van Ooij,C., Snyder,R.C., Paeper,B.W. and Duester,G.
  TITLE     Temporal expression of the human alcohol dehydrogenase gene family
            during liver development correlates with differential promoter
            activation by hepatocyte nuclear factor 1, CCAAT/enhancer-binding
            protein alpha, liver activator protein, and D-element-binding
            protein
  JOURNAL   Mol Cell Biol 12 (7), 3023-3031 (1992)
   PUBMED   1620113
REFERENCE   7  (bases 1 to 1454)
  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   8  (bases 1 to 1454)
  AUTHORS   Yasunami,M., Kikuchi,I., Sarapata,D. and Yoshida,A.
  TITLE     The human class I alcohol dehydrogenase gene cluster: three genes
            are tandemly organized in an 80-kb-long segment of the genome
  JOURNAL   Genomics 7 (2), 152-158 (1990)
   PUBMED   2347582
REFERENCE   9  (bases 1 to 1454)
  AUTHORS   Tsukahara,M. and Yoshida,A.
  TITLE     Chromosomal assignment of the alcohol dehydrogenase cluster locus
            to human chromosome 4q21-23 by in situ hybridization
  JOURNAL   Genomics 4 (2), 218-220 (1989)
   PUBMED   2737681
REFERENCE   10 (bases 1 to 1454)
  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 AK290558.1.
            
            On Nov 23, 2018 this sequence version replaced NM_000667.3.
            
            Summary: This gene encodes a member of the alcohol dehydrogenase
            family. The encoded protein is the alpha subunit of class I alcohol
            dehydrogenase, which consists of several homo- and heterodimers of
            alpha, beta and gamma subunits. Alcohol dehydrogenases catalyze the
            oxidation of alcohols to aldehydes. This gene is active in the
            liver in early fetal life but only weakly active in adult liver.
            This gene is found in a cluster with six additional alcohol
            dehydrogenase genes, including those encoding the beta and gamma
            subunits, on the long arm of chromosome 4. Mutations in this gene
            may contribute to variation in certain personality traits and
            substance dependence. [provided by RefSeq, Nov 2010].
            
            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 :: AK290558.1, M12963.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968540,
                                           SAMEA1968968 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000209668.3/ ENSP00000209668.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1454              AK290558.1         1-1454
FEATURES             Location/Qualifiers
     source          1..1454
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q23"
     gene            1..1454
                     /gene="ADH1A"
                     /gene_synonym="ADH1"
                     /note="alcohol dehydrogenase 1A (class I), alpha
                     polypeptide"
                     /db_xref="GeneID:124"
                     /db_xref="HGNC:HGNC:249"
                     /db_xref="MIM:103700"
     exon            1..89
                     /gene="ADH1A"
                     /gene_synonym="ADH1"
                     /inference="alignment:Splign:2.1.0"
     CDS             72..1199
                     /gene="ADH1A"
                     /gene_synonym="ADH1"
                     /EC_number="1.1.1.1"
                     /note="ADH, alpha subunit; alcohol dehydrogenase 1 (class
                     I), alpha polypeptide; aldehyde reductase; alcohol
                     dehydrogenase subunit alpha"
                     /codon_start=1
                     /product="alcohol dehydrogenase 1A"
                     /protein_id="NP_000658.1"
                     /db_xref="CCDS:CCDS3648.1"
                     /db_xref="GeneID:124"
                     /db_xref="HGNC:HGNC:249"
                     /db_xref="MIM:103700"
                     /translation="MSTAGKVIKCKAAVLWELKKPFSIEEVEVAPPKAHEVRIKMVAV
                     GICGTDDHVVSGTMVTPLPVILGHEAAGIVESVGEGVTTVKPGDKVIPLAIPQCGKCR
                     ICKNPESNYCLKNDVSNPQGTLQDGTSRFTCRRKPIHHFLGISTFSQYTVVDENAVAK
                     IDAASPLEKVCLIGCGFSTGYGSAVNVAKVTPGSTCAVFGLGGVGLSAIMGCKAAGAA
                     RIIAVDINKDKFAKAKELGATECINPQDYKKPIQEVLKEMTDGGVDFSFEVIGRLDTM
                     MASLLCCHEACGTSVIVGVPPDSQNLSMNPMLLLTGRTWKGAILGGFKSKECVPKLVA
                     DFMAKKFSLDALITHVLPFEKINEGFDLLHSGKSIRTILMF"
     exon            90..191
                     /gene="ADH1A"
                     /gene_synonym="ADH1"
                     /inference="alignment:Splign:2.1.0"
     exon            192..330
                     /gene="ADH1A"
                     /gene_synonym="ADH1"
                     /inference="alignment:Splign:2.1.0"
     exon            331..418
                     /gene="ADH1A"
                     /gene_synonym="ADH1"
                     /inference="alignment:Splign:2.1.0"
     exon            419..638
                     /gene="ADH1A"
                     /gene_synonym="ADH1"
                     /inference="alignment:Splign:2.1.0"
     exon            639..899
                     /gene="ADH1A"
                     /gene_synonym="ADH1"
                     /inference="alignment:Splign:2.1.0"
     exon            900..1035
                     /gene="ADH1A"
                     /gene_synonym="ADH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1036..1174
                     /gene="ADH1A"
                     /gene_synonym="ADH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1175..1454
                     /gene="ADH1A"
                     /gene_synonym="ADH1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1433..1438
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADH1A"
                     /gene_synonym="ADH1"
                     /note="hexamer: AATAAA"
     polyA_site      1454
                     /gene="ADH1A"
                     /gene_synonym="ADH1"
                     /note="major polyA site"
ORIGIN      
        1 atgcacttga gcagggaaga aatccacaag gactcaccag tctcctggtc tgcagagaag
       61 acagaatcaa catgagcaca gcaggaaaag taatcaaatg caaagcagct gtgctatggg
      121 agttaaagaa acccttttcc attgaggagg tggaggttgc acctcctaag gcccatgaag
      181 ttcgtattaa gatggtggct gtaggaatct gtggcacaga tgaccacgtg gttagtggta
      241 ccatggtgac cccacttcct gtgattttag gccatgaggc agccggcatc gtggagagtg
      301 ttggagaagg ggtgactaca gtcaaaccag gtgataaagt catcccactc gctattcctc
      361 agtgtggaaa atgcagaatt tgtaaaaacc cggagagcaa ctactgcttg aaaaacgatg
      421 taagcaatcc tcaggggacc ctgcaggatg gcaccagcag gttcacctgc aggaggaagc
      481 ccatccacca cttccttggc atcagcacct tctcacagta cacagtggtg gatgaaaatg
      541 cagtagccaa aattgatgca gcctcgcctc tagagaaagt ctgtctcatt ggctgtggat
      601 tttcaactgg ttatgggtct gcagtcaatg ttgccaaggt caccccaggc tctacctgtg
      661 ctgtgtttgg cctgggaggg gtcggcctat ctgctattat gggctgtaaa gcagctgggg
      721 cagccagaat cattgcggtg gacatcaaca aggacaaatt tgcaaaggcc aaagagttgg
      781 gtgccactga atgcatcaac cctcaagact acaagaaacc catccaggag gtgctaaagg
      841 aaatgactga tggaggtgtg gatttttcat ttgaagtcat cggtcggctt gacaccatga
      901 tggcttccct gttatgttgt catgaggcat gtggcacaag tgtcatcgta ggggtacctc
      961 ctgattccca aaacctctca atgaacccta tgctgctact gactggacgt acctggaagg
     1021 gagctattct tggtggcttt aaaagtaaag aatgtgtccc aaaacttgtg gctgatttta
     1081 tggctaagaa gttttcattg gatgcattaa taacccatgt tttacctttt gaaaaaataa
     1141 atgaaggatt tgacctgctt cactctggga aaagtatccg taccattctg atgttttgag
     1201 acaatacaga tgttttccct tgtggcagtc ttcagcctcc tctaccctac atgatctgga
     1261 gcaacagctg ggaaatatca ttaattctgc tcatcacaga ttttatcaat aaattacatt
     1321 tgggggcttt ccaaagaaat ggaaattgat gtaaaattat ttttcaagca aatgtttaaa
     1381 atccaaatga gaactaaata aagtgttgaa catcagctgg ggaattgaag ccaataaacc
     1441 ttccttctta acca
//
