LOCUS       NM_000671               2652 bp    mRNA    linear   PRI 16-AUG-2024
DEFINITION  Homo sapiens alcohol dehydrogenase 5 (class III), chi polypeptide
            (ADH5), mRNA.
ACCESSION   NM_000671
VERSION     NM_000671.4
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 2652)
  AUTHORS   Mu,A., Cao,Z., Huang,D., Hosokawa,H., Maegawa,S. and Takata,M.
  TITLE     Effects of the major formaldehyde catalyzer ADH5 on phenotypes of
            fanconi anemia zebrafish model
  JOURNAL   Mol Biol Rep 50 (10), 8385-8395 (2023)
   PUBMED   37615925
  REMARK    GeneRIF: Effects of the major formaldehyde catalyzer ADH5 on
            phenotypes of fanconi anemia zebrafish model.
REFERENCE   2  (bases 1 to 2652)
  AUTHORS   Rizza,S., Di Leo,L., Pecorari,C., Giglio,P., Faienza,F.,
            Montagna,C., Maiani,E., Puglia,M., Bosisio,F.M., Petersen,T.S.,
            Lin,L., Rissler,V., Viloria,J.S., Luo,Y., Papaleo,E., De Zio,D.,
            Blagoev,B. and Filomeni,G.
  TITLE     GSNOR deficiency promotes tumor growth via FAK1 S-nitrosylation
  JOURNAL   Cell Rep 42 (1), 111997 (2023)
   PUBMED   36656716
  REMARK    GeneRIF: GSNOR deficiency promotes tumor growth via FAK1
            S-nitrosylation.
REFERENCE   3  (bases 1 to 2652)
  AUTHORS   Mu,A., Hira,A., Niwa,A., Osawa,M., Yoshida,K., Mori,M., Okamoto,Y.,
            Inoue,K., Kondo,K., Kanemaki,M.T., Matsuda,T., Ito,E., Kojima,S.,
            Nakahata,T., Ogawa,S., Tanaka,K., Matsuo,K., Saito,M.K. and
            Takata,M.
  TITLE     Analysis of disease model iPSCs derived from patients with a novel
            Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency
  JOURNAL   Blood 137 (15), 2021-2032 (2021)
   PUBMED   33512438
  REMARK    GeneRIF: Analysis of disease model iPSCs derived from patients with
            a novel Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency.
REFERENCE   4  (bases 1 to 2652)
  AUTHORS   Mu,A., Hira,A., Matsuo,K. and Takata,M.
  TITLE     [Aldehyde degradation deficiency (ADD) syndrome: discovery of a
            novel fanconi anemia-like inherited BMF syndrome due to combined
            ADH5/ALDH2 deficiency]
  JOURNAL   Rinsho Ketsueki 62 (6), 547-553 (2021)
   PUBMED   34219079
  REMARK    GeneRIF: [Aldehyde degradation deficiency (ADD) syndrome: discovery
            of a novel fanconi anemia-like inherited BMF syndrome due to
            combined ADH5/ALDH2 deficiency].
REFERENCE   5  (bases 1 to 2652)
  AUTHORS   Kwon,H.S., Lee,D.K., Lee,J.J., Edenberg,H.J., Ahn,Y.H. and Hur,M.W.
  TITLE     Posttranscriptional regulation of human ADH5/FDH and Myf6 gene
            expression by upstream AUG codons
  JOURNAL   Arch Biochem Biophys 386 (2), 163-171 (2001)
   PUBMED   11368338
REFERENCE   6  (bases 1 to 2652)
  AUTHORS   Iborra,F.J., Renau-Piqueras,J., Portoles,M., Boleda,M.D., Guerri,C.
            and Pares,X.
  TITLE     Immunocytochemical and biochemical demonstration of formaldhyde
            dehydrogenase (class III alcohol dehydrogenase) in the nucleus
  JOURNAL   J Histochem Cytochem 40 (12), 1865-1878 (1992)
   PUBMED   1453005
REFERENCE   7  (bases 1 to 2652)
  AUTHORS   Hur,M.W. and Edenberg,H.J.
  TITLE     Cloning and characterization of the ADH5 gene encoding human
            alcohol dehydrogenase 5, formaldehyde dehydrogenase
  JOURNAL   Gene 121 (2), 305-311 (1992)
   PUBMED   1446828
REFERENCE   8  (bases 1 to 2652)
  AUTHORS   Bowden,G.A., Baneyx,F. and Georgiou,G.
  TITLE     Abnormal fractionation of beta-lactamase in Escherichia coli:
            evidence for an interaction with the inner membrane in the absence
            of a leader peptide
  JOURNAL   J Bacteriol 174 (10), 3407-3410 (1992)
   PUBMED   1577708
REFERENCE   9  (bases 1 to 2652)
  AUTHORS   Sharma,C.P., Fox,E.A., Holmquist,B., Jornvall,H. and Vallee,B.L.
  TITLE     cDNA sequence of human class III alcohol dehydrogenase
  JOURNAL   Biochem Biophys Res Commun 164 (2), 631-637 (1989)
   PUBMED   2818582
REFERENCE   10 (bases 1 to 2652)
  AUTHORS   Giri,P.R., Krug,J.F., Kozak,C., Moretti,T., O'Brien,S.J.,
            Seuanez,H.N. and Goldman,D.
  TITLE     Cloning and comparative mapping of a human class III (chi) alcohol
            dehydrogenase cDNA
  JOURNAL   Biochem Biophys Res Commun 164 (1), 453-460 (1989)
   PUBMED   2679557
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA737788.1, M30471.1 and
            AC019131.7.
            
            On Dec 21, 2013 this sequence version replaced NM_000671.3.
            
            Summary: This gene encodes a member of the alcohol dehydrogenase
            family. Members of this family metabolize a wide variety of
            substrates, including ethanol, retinol, other aliphatic alcohols,
            hydroxysteroids, and lipid peroxidation products. The encoded
            protein forms a homodimer. It has virtually no activity for ethanol
            oxidation, but exhibits high activity for oxidation of long-chain
            primary alcohols and for oxidation of S-hydroxymethyl-glutathione,
            a spontaneous adduct between formaldehyde and glutathione. This
            enzyme is an important component of cellular metabolism for the
            elimination of formaldehyde, a potent irritant and sensitizing
            agent that causes lacrymation, rhinitis, pharyngitis, and contact
            dermatitis. The human genome contains several non-transcribed
            pseudogenes related to this gene. [provided by RefSeq, Oct 2008].
            
            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 :: M30471.1, SRR3476690.213168.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000296412.14/ ENSP00000296412.8
            RefSeq Select criteria :: based on single protein-coding transcript
            regulatory uORF        :: PMID: 11368338
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-86                DA737788.1         3-88
            87-1519             M30471.1           1-1433
            1520-2652           AC019131.7         154248-155380       c
FEATURES             Location/Qualifiers
     source          1..2652
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q23"
     gene            1..2652
                     /gene="ADH5"
                     /gene_synonym="ADH-3; ADHX; AMEDS; BMFS7; FALDH; FDH;
                     GSH-FDH; GSNOR; HEL-S-60p"
                     /note="alcohol dehydrogenase 5 (class III), chi
                     polypeptide"
                     /db_xref="GeneID:128"
                     /db_xref="HGNC:HGNC:253"
                     /db_xref="MIM:103710"
     exon            1..100
                     /gene="ADH5"
                     /gene_synonym="ADH-3; ADHX; AMEDS; BMFS7; FALDH; FDH;
                     GSH-FDH; GSNOR; HEL-S-60p"
                     /inference="alignment:Splign:2.1.0"
     regulatory      24..86
                     /regulatory_class="uORF"
                     /gene="ADH5"
                     /gene_synonym="ADH-3; ADHX; AMEDS; BMFS7; FALDH; FDH;
                     GSH-FDH; GSNOR; HEL-S-60p"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:11368338]"
                     /note="this uORF is predicted to encode a 20 aa peptide
                     (PMID:11368338)"
     regulatory      54..86
                     /regulatory_class="uORF"
                     /gene="ADH5"
                     /gene_synonym="ADH-3; ADHX; AMEDS; BMFS7; FALDH; FDH;
                     GSH-FDH; GSNOR; HEL-S-60p"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:11368338]"
                     /note="this uORF is predicted to encode a 10 aa peptide
                     (PMID:11368338)"
     CDS             89..1213
                     /gene="ADH5"
                     /gene_synonym="ADH-3; ADHX; AMEDS; BMFS7; FALDH; FDH;
                     GSH-FDH; GSNOR; HEL-S-60p"
                     /EC_number="1.1.1.1"
                     /EC_number="1.1.1.284"
                     /note="formaldehyde dehydrogenase; glutathione-dependent
                     formaldehyde dehydrogenase; alcohol dehydrogenase (class
                     III), chi polypeptide; alcohol dehydrogenase class-III;
                     alcohol dehydrogenase class chi chain;
                     S-(hydroxymethyl)glutathione dehydrogenase; epididymis
                     secretory sperm binding protein Li 60p;
                     S-nitrosoglutathione reductase"
                     /codon_start=1
                     /product="alcohol dehydrogenase class-3"
                     /protein_id="NP_000662.3"
                     /db_xref="CCDS:CCDS47111.1"
                     /db_xref="GeneID:128"
                     /db_xref="HGNC:HGNC:253"
                     /db_xref="MIM:103710"
                     /translation="MANEVIKCKAAVAWEAGKPLSIEEIEVAPPKAHEVRIKIIATAV
                     CHTDAYTLSGADPEGCFPVILGHEGAGIVESVGEGVTKLKAGDTVIPLYIPQCGECKF
                     CLNPKTNLCQKIRVTQGKGLMPDGTSRFTCKGKTILHYMGTSTFSEYTVVADISVAKI
                     DPLAPLDKVCLLGCGISTGYGAAVNTAKLEPGSVCAVFGLGGVGLAVIMGCKVAGASR
                     IIGVDINKDKFARAKEFGATECINPQDFSKPIQEVLIEMTDGGVDYSFECIGNVKVMR
                     AALEACHKGWGVSVVVGVAASGEEIATRPFQLVTGRTWKGTAFGGWKSVESVPKLVSE
                     YMSKKIKVDEFVTHNLSFDEINKAFELMHSGKSIRTVVKI"
     exon            101..202
                     /gene="ADH5"
                     /gene_synonym="ADH-3; ADHX; AMEDS; BMFS7; FALDH; FDH;
                     GSH-FDH; GSNOR; HEL-S-60p"
                     /inference="alignment:Splign:2.1.0"
     exon            203..344
                     /gene="ADH5"
                     /gene_synonym="ADH-3; ADHX; AMEDS; BMFS7; FALDH; FDH;
                     GSH-FDH; GSNOR; HEL-S-60p"
                     /inference="alignment:Splign:2.1.0"
     exon            345..432
                     /gene="ADH5"
                     /gene_synonym="ADH-3; ADHX; AMEDS; BMFS7; FALDH; FDH;
                     GSH-FDH; GSNOR; HEL-S-60p"
                     /inference="alignment:Splign:2.1.0"
     exon            433..652
                     /gene="ADH5"
                     /gene_synonym="ADH-3; ADHX; AMEDS; BMFS7; FALDH; FDH;
                     GSH-FDH; GSNOR; HEL-S-60p"
                     /inference="alignment:Splign:2.1.0"
     exon            653..913
                     /gene="ADH5"
                     /gene_synonym="ADH-3; ADHX; AMEDS; BMFS7; FALDH; FDH;
                     GSH-FDH; GSNOR; HEL-S-60p"
                     /inference="alignment:Splign:2.1.0"
     exon            914..1049
                     /gene="ADH5"
                     /gene_synonym="ADH-3; ADHX; AMEDS; BMFS7; FALDH; FDH;
                     GSH-FDH; GSNOR; HEL-S-60p"
                     /inference="alignment:Splign:2.1.0"
     exon            1050..1188
                     /gene="ADH5"
                     /gene_synonym="ADH-3; ADHX; AMEDS; BMFS7; FALDH; FDH;
                     GSH-FDH; GSNOR; HEL-S-60p"
                     /inference="alignment:Splign:2.1.0"
     exon            1189..2652
                     /gene="ADH5"
                     /gene_synonym="ADH-3; ADHX; AMEDS; BMFS7; FALDH; FDH;
                     GSH-FDH; GSNOR; HEL-S-60p"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1454..1459
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADH5"
                     /gene_synonym="ADH-3; ADHX; AMEDS; BMFS7; FALDH; FDH;
                     GSH-FDH; GSNOR; HEL-S-60p"
                     /note="hexamer: AATAAA"
     polyA_site      1484
                     /gene="ADH5"
                     /gene_synonym="ADH-3; ADHX; AMEDS; BMFS7; FALDH; FDH;
                     GSH-FDH; GSNOR; HEL-S-60p"
     regulatory      2626..2631
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADH5"
                     /gene_synonym="ADH-3; ADHX; AMEDS; BMFS7; FALDH; FDH;
                     GSH-FDH; GSNOR; HEL-S-60p"
                     /note="hexamer: AATAAA"
     polyA_site      2652
                     /gene="ADH5"
                     /gene_synonym="ADH-3; ADHX; AMEDS; BMFS7; FALDH; FDH;
                     GSH-FDH; GSNOR; HEL-S-60p"
                     /note="major polyA site"
ORIGIN      
        1 ctcgctaggc gctcgccacg cccatgcctc cgtcgctgcg cggcccaccc cggatgtcag
       61 ccccccgcgc cgaccagaat ccgtgaacat ggcgaacgag gttatcaagt gcaaggctgc
      121 agttgcttgg gaggctggaa agcctctctc catagaggag atagaggtgg cacccccaaa
      181 ggctcatgaa gttcgaatca agatcattgc cactgcggtt tgccacaccg atgcctatac
      241 cctgagtgga gctgatcctg agggttgttt tccagtgatc ttgggacatg aaggtgctgg
      301 aattgtggaa agtgttggtg agggagttac taagctgaag gcgggtgaca ctgtcatccc
      361 actttacatc ccacagtgtg gagaatgcaa attttgtcta aatcctaaaa ctaacctttg
      421 ccagaagata agagtcactc aagggaaagg attaatgcca gatggtacca gcagatttac
      481 ttgcaaagga aagacaattt tgcattacat gggaaccagc acattttctg aatacacagt
      541 tgtggctgat atctctgttg ctaaaataga tcctttagca cctttggata aagtctgcct
      601 tctaggttgt ggcatttcaa ccggttatgg tgctgctgtg aacactgcca agttggagcc
      661 tggctctgtt tgtgccgtct ttggtctggg aggagtcgga ttggcagtta tcatgggctg
      721 taaagtggct ggtgcttccc ggatcattgg tgtggacatc aataaagata aatttgcaag
      781 ggccaaagag tttggagcca ctgaatgtat taaccctcag gattttagta aacccatcca
      841 ggaagtgctc attgagatga ccgatggagg agtggactat tcctttgaat gtattggtaa
      901 tgtgaaggtc atgagagcag cacttgaggc atgtcacaag ggctggggcg tcagcgtcgt
      961 ggttggagta gctgcttcag gtgaagaaat tgccactcgt ccattccagc tggtaacagg
     1021 tcgcacatgg aaaggcactg cctttggagg atggaagagt gtagaaagtg tcccaaagtt
     1081 ggtgtctgaa tatatgtcca aaaagataaa agttgatgaa tttgtgactc acaatctgtc
     1141 ttttgatgaa atcaacaaag cctttgaact gatgcattct ggaaagagca ttcgaactgt
     1201 tgtaaagatt taattcaaaa gagaaaaata atgtccatcc tgtcgtgatg tgataggagc
     1261 agcttaacag gcagggagaa gcgcctccaa cctcacagcc tcgtagagct tcacagctac
     1321 tccagaaaat agggttatgt gtgtcattca tgaatctcta taatcaagga caaggataat
     1381 tcagtcatga acctgttttc tggatgctcc tccacataaa taattgctag tttattaagg
     1441 aatattttaa cataataaaa gtaatttcta catttgtgtg gaaattgtct tgttttatgc
     1501 tgtcatcatt gtcacggttt gtctgcccat tatcttcatt ctgcaaggga aagggaaagg
     1561 aagcagggca gtggtgggtg tctgaaacct cagaaacata acgttgaact tttaagggtc
     1621 tcagtccccg ttgattaaag aacagatcct agccatcagt gacaaagtta atcaggaccc
     1681 aagtctgctt ctgtgatatt atcttgaagg gaggtactgt gccttgttca tacctgtacc
     1741 ccaaattcct aggatggcat ctgcccttca gggggcacta aaatgtatta ttgaaacagc
     1801 attctgggct taaataggtg tatgtatgtg ttggttgtga ctgtactatt tctagtatag
     1861 tgaactacat actgaatatc caagttctca gcacctactt ttgtcaaatc ttaacatttt
     1921 gccacttcga gatcacattg ccattcctcc cctccagagg taacaattat ccacaatttg
     1981 atgtttatca ttcctgtgtt gttgtacttt cactgtgtat aacctaaacc atctactctt
     2041 tagtactgtt ttatatattt ttaagcctca tacttgctca ttctacagct tttttcactc
     2101 attattgtat aattatatct gaagctctcg ttcattaatt ttagtcctgt gtagcagaat
     2161 tcaattacgg gaactaccat aatttatctg ttctccagtt gaaggcatga agttgttgcc
     2221 agtttctgta ttataacact gtagtggaac attcttctgc attgggctca ctgcgtgtta
     2281 cctaagacgt atcacagaat aaacacattt agccttatag acattgccaa attgctcttc
     2341 aaagtaaatg tgagtttttg tgaattacat gagtatggaa tggtgtttta ttatgacttt
     2401 agtttgcatt ttcctcaatt ctcgttaaat ccttcattct aatggacatt ttattgtgaa
     2461 gaacctgttc atatcctgtg ctcaactttg tattgaatta tttttctctg aataattttt
     2521 aggagttctt ttattctaga catcaatcat ttgtcagttt tatatgttgc aaatatcttc
     2581 tagtctatct tgtgactttt ctttttactt tatggtattt tgttgaataa agttttaatg
     2641 tagtcacata aa
//
