LOCUS       NM_000691               1639 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens aldehyde dehydrogenase 3 family member A1 (ALDH3A1),
            transcript variant 2, mRNA.
ACCESSION   NM_000691
VERSION     NM_000691.5
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 1639)
  AUTHORS   Chen,Y., Yan,H., Yan,L., Wang,X., Che,X., Hou,K., Yang,Y., Li,X.,
            Li,Y., Zhang,Y. and Hu,X.
  TITLE     Hypoxia-induced ALDH3A1 promotes the proliferation of
            non-small-cell lung cancer by regulating energy metabolism
            reprogramming
  JOURNAL   Cell Death Dis 14 (9), 617 (2023)
   PUBMED   37730658
  REMARK    GeneRIF: Hypoxia-induced ALDH3A1 promotes the proliferation of
            non-small-cell lung cancer by regulating energy metabolism
            reprogramming.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1639)
  AUTHORS   Wang,B., He,Y., Wang,B., Li,J. and Qin,L.
  TITLE     ALDH3A1 overexpression in OSCC inhibits inflammation via
            phospho-Ser727 at STAT3 in tumor-associated macrophages
  JOURNAL   Oral Dis 29 (4), 1513-1524 (2023)
   PUBMED   35188323
  REMARK    GeneRIF: ALDH3A1 overexpression in OSCC inhibits inflammation via
            phospho-Ser727 at STAT3 in tumor-associated macrophages.
REFERENCE   3  (bases 1 to 1639)
  AUTHORS   Mok,J.W., So,H.R., Ha,M.J., Na,K.S. and Joo,C.K.
  TITLE     Association with Corneal Remodeling Related Genes, ALDH3A1, LOX,
            and SPARC Genes Variations in Korean Keratoconus Patients
  JOURNAL   Korean J Ophthalmol 35 (2), 120-129 (2021)
   PUBMED   33596621
  REMARK    GeneRIF: Association with Corneal Remodeling Related Genes,
            ALDH3A1, LOX, and SPARC Genes Variations in Korean Keratoconus
            Patients.
REFERENCE   4  (bases 1 to 1639)
  AUTHORS   Wang,C., Xu,J., Yuan,D., Bai,Y., Pan,Y., Zhang,J. and Shao,C.
  TITLE     Exosomes carrying ALDOA and ALDH3A1 from irradiated lung cancer
            cells enhance migration and invasion of recipients by accelerating
            glycolysis
  JOURNAL   Mol Cell Biochem 469 (1-2), 77-87 (2020)
   PUBMED   32297178
  REMARK    GeneRIF: Exosomes carrying ALDOA and ALDH3A1 from irradiated lung
            cancer cells enhance migration and invasion of recipients by
            accelerating glycolysis.
REFERENCE   5  (bases 1 to 1639)
  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   6  (bases 1 to 1639)
  AUTHORS   Yoshida,A.
  TITLE     Molecular genetics of human aldehyde dehydrogenase
  JOURNAL   Pharmacogenetics 2 (4), 139-147 (1992)
   PUBMED   1306115
  REMARK    Review article
REFERENCE   7  (bases 1 to 1639)
  AUTHORS   Hsu,L.C., Chang,W.C., Shibuya,A. and Yoshida,A.
  TITLE     Human stomach aldehyde dehydrogenase cDNA and genomic cloning,
            primary structure, and expression in Escherichia coli
  JOURNAL   J Biol Chem 267 (5), 3030-3037 (1992)
   PUBMED   1737758
REFERENCE   8  (bases 1 to 1639)
  AUTHORS   Yin,S.J., Vagelopoulos,N., Wang,S.L. and Jornvall,H.
  TITLE     Structural features of stomach aldehyde dehydrogenase distinguish
            dimeric aldehyde dehydrogenase as a 'variable' enzyme. 'Variable'
            and 'constant' enzymes within the alcohol and aldehyde
            dehydrogenase families
  JOURNAL   FEBS Lett 283 (1), 85-88 (1991)
   PUBMED   2037078
REFERENCE   9  (bases 1 to 1639)
  AUTHORS   Eckey,R., Timmann,R., Hempel,J., Agarwal,D.P. and Goedde,H.W.
  TITLE     Biochemical, immunological, and molecular characterization of a
            'high Km' aldehyde dehydrogenase
  JOURNAL   Adv Exp Med Biol 284, 43-52 (1991)
   PUBMED   1905102
REFERENCE   10 (bases 1 to 1639)
  AUTHORS   Hopkinson,D.A., Santisteban,I., Povey,S. and Smith,M.
  TITLE     Biochemical genetic analysis of human and rodent aldehyde
            dehydrogenase (ALDH)
  JOURNAL   Alcohol 2 (1), 73-78 (1985)
   PUBMED   4015840
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC004102.2, BC004370.1,
            CV575863.1 and BM979497.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_000691.4.
            
            Summary: Aldehyde dehydrogenases oxidize various aldehydes to the
            corresponding acids. They are involved in the detoxification of
            alcohol-derived acetaldehyde and in the metabolism of
            corticosteroids, biogenic amines, neurotransmitters, and lipid
            peroxidation. The enzyme encoded by this gene forms a cytoplasmic
            homodimer that preferentially oxidizes aromatic and medium-chain (6
            carbons or more) saturated and unsaturated aldehyde substrates. It
            is thought to promote resistance to UV and
            4-hydroxy-2-nonenal-induced oxidative damage in the cornea. The
            gene is located within the Smith-Magenis syndrome region on
            chromosome 17. Multiple alternatively spliced variants, encoding
            the same protein, have been identified. [provided by RefSeq, Sep
            2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1-3 encode the same isoform (1).
            
            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 :: BC021194.2, AK225513.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000225740.11/ ENSP00000225740.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-13                BC004102.2         136-148
            14-444              BC004370.1         1-431
            445-845             CV575863.1         214-614
            846-1619            BC004370.1         833-1606
            1620-1639           BM979497.1         21-40               c
FEATURES             Location/Qualifiers
     source          1..1639
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p11.2"
     gene            1..1639
                     /gene="ALDH3A1"
                     /gene_synonym="ALDH3; ALDHIII"
                     /note="aldehyde dehydrogenase 3 family member A1"
                     /db_xref="GeneID:218"
                     /db_xref="HGNC:HGNC:405"
                     /db_xref="MIM:100660"
     exon            1..40
                     /gene="ALDH3A1"
                     /gene_synonym="ALDH3; ALDHIII"
                     /inference="alignment:Splign:2.1.0"
     exon            41..207
                     /gene="ALDH3A1"
                     /gene_synonym="ALDH3; ALDHIII"
                     /inference="alignment:Splign:2.1.0"
     CDS             46..1407
                     /gene="ALDH3A1"
                     /gene_synonym="ALDH3; ALDHIII"
                     /EC_number="1.2.1.5"
                     /note="isoform 1 is encoded by transcript variant 2;
                     aldehyde dehydrogenase type III; aldehyde dehydrogenase
                     isozyme 3; stomach aldehyde dehydrogenase"
                     /codon_start=1
                     /product="aldehyde dehydrogenase, dimeric NADP-preferring
                     isoform 1"
                     /protein_id="NP_000682.3"
                     /db_xref="CCDS:CCDS11212.1"
                     /db_xref="GeneID:218"
                     /db_xref="HGNC:HGNC:405"
                     /db_xref="MIM:100660"
                     /translation="MSKISEAVKRARAAFSSGRTRPLQFRIQQLEALQRLIQEQEQEL
                     VGALAADLHKNEWNAYYEEVVYVLEEIEYMIQKLPEWAADEPVEKTPQTQQDELYIHS
                     EPLGVVLVIGTWNYPFNLTIQPMVGAIAAGNSVVLKPSELSENMASLLATIIPQYLDK
                     DLYPVINGGVPETTELLKERFDHILYTGSTGVGKIIMTAAAKHLTPVTLELGGKSPCY
                     VDKNCDLDVACRRIAWGKFMNSGQTCVAPDYILCDPSIQNQIVEKLKKSLKEFYGEDA
                     KKSRDYGRIISARHFQRVMGLIEGQKVAYGGTGDAATRYIAPTILTDVDPQSPVMQEE
                     IFGPVLPIVCVRSLEEAIQFINQREKPLALYMFSSNDKVIKKMIAETSSGGVAANDVI
                     VHITLHSLPFGGVGNSGMGSYHGKKSFETFSHRRSCLVRPLMNDEGLKVRYPPSPAKM
                     TQH"
     exon            208..439
                     /gene="ALDH3A1"
                     /gene_synonym="ALDH3; ALDHIII"
                     /inference="alignment:Splign:2.1.0"
     exon            440..525
                     /gene="ALDH3A1"
                     /gene_synonym="ALDH3; ALDHIII"
                     /inference="alignment:Splign:2.1.0"
     exon            526..734
                     /gene="ALDH3A1"
                     /gene_synonym="ALDH3; ALDHIII"
                     /inference="alignment:Splign:2.1.0"
     exon            735..852
                     /gene="ALDH3A1"
                     /gene_synonym="ALDH3; ALDHIII"
                     /inference="alignment:Splign:2.1.0"
     exon            853..994
                     /gene="ALDH3A1"
                     /gene_synonym="ALDH3; ALDHIII"
                     /inference="alignment:Splign:2.1.0"
     exon            995..1161
                     /gene="ALDH3A1"
                     /gene_synonym="ALDH3; ALDHIII"
                     /inference="alignment:Splign:2.1.0"
     exon            1162..1261
                     /gene="ALDH3A1"
                     /gene_synonym="ALDH3; ALDHIII"
                     /inference="alignment:Splign:2.1.0"
     exon            1262..1392
                     /gene="ALDH3A1"
                     /gene_synonym="ALDH3; ALDHIII"
                     /inference="alignment:Splign:2.1.0"
     exon            1393..1639
                     /gene="ALDH3A1"
                     /gene_synonym="ALDH3; ALDHIII"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1609..1614
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALDH3A1"
                     /gene_synonym="ALDH3; ALDHIII"
                     /note="hexamer: AATAAA"
     polyA_site      1639
                     /gene="ALDH3A1"
                     /gene_synonym="ALDH3; ALDHIII"
                     /note="major polyA site"
ORIGIN      
        1 gttccaggag ccccagttac cgggagaggc tgtgtcaaag gcgccatgag caagatcagc
       61 gaggccgtga agcgcgcccg cgccgccttc agctcgggca ggacccgtcc gctgcagttc
      121 cggatccagc agctggaggc gctgcagcgc ctgatccagg agcaggagca ggagctggtg
      181 ggcgcgctgg ccgcagacct gcacaagaat gaatggaacg cctactatga ggaggtggtg
      241 tacgtcctag aggagatcga gtacatgatc cagaagctcc ctgagtgggc cgcggatgag
      301 cccgtggaga agacgcccca gactcagcag gacgagctct acatccactc ggagccactg
      361 ggcgtggtcc tcgtcattgg cacctggaac taccccttca acctcaccat ccagcccatg
      421 gtgggcgcca tcgctgcagg gaactcagtg gtcctcaagc cctcggagct gagtgagaac
      481 atggcgagcc tgctggctac catcatcccc cagtacctgg acaaggatct gtacccagta
      541 atcaatgggg gtgtccctga gaccacggag ctgctcaagg agaggttcga ccatatcctg
      601 tacacgggca gcacgggggt ggggaagatc atcatgacgg ctgctgccaa gcacctgacc
      661 cctgtcacgc tggagctggg agggaagagt ccctgctacg tggacaagaa ctgtgacctg
      721 gacgtggcct gccgacgcat cgcctggggg aaattcatga acagtggcca gacctgcgtg
      781 gcccctgact acatcctctg tgacccctcg atccagaacc aaattgtgga gaagctcaag
      841 aagtcactga aagagttcta cggggaagat gctaagaaat cccgggacta tggaagaatc
      901 attagtgccc ggcacttcca gagggtgatg ggcctgattg agggccagaa ggtggcttat
      961 gggggcaccg gggatgccgc cactcgctac atagccccca ccatcctcac ggacgtggac
     1021 ccccagtccc cggtgatgca agaggagatc ttcgggcctg tgctgcccat cgtgtgcgtg
     1081 cgcagcctgg aggaggccat ccagttcatc aaccagcgtg agaagcccct ggccctctac
     1141 atgttctcca gcaacgacaa ggtgattaag aagatgattg cagagacatc cagtggtggg
     1201 gtggcggcca acgatgtcat cgtccacatc accttgcact ctctgccctt cgggggcgtg
     1261 gggaacagcg gcatgggatc ctaccatggc aagaagagct tcgagacttt ctctcaccgc
     1321 cgctcttgcc tggtgaggcc tctgatgaat gatgaaggcc tgaaggtcag ataccccccg
     1381 agcccggcca agatgaccca gcactgagga ggggttgctc cgcctggcct ggccatactg
     1441 tgtcccatcg gagtgcggac caccctcact ggctctcctg gccctgggag aatcgctcct
     1501 gcagccccag cccagcccca ctcctctgct gacctgctga cctgtgcaca ccccactccc
     1561 acatgggccc aggcctcacc attccaagtc tccacccctt tctagaccaa taaagagacg
     1621 aatacaattt tctaactca
//
