LOCUS       NM_000692               3028 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens aldehyde dehydrogenase 1 family member B1 (ALDH1B1),
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000692
VERSION     NM_000692.5
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 3028)
  AUTHORS   Wang,Y., Popovic,Z., Charkoftaki,G., Garcia-Milian,R., Lam,T.T.,
            Thompson,D.C., Chen,Y. and Vasiliou,V.
  TITLE     Multi-omics profiling reveals cellular pathways and functions
            regulated by ALDH1B1 in colon cancer cells
  JOURNAL   Chem Biol Interact 384, 110714 (2023)
   PUBMED   37716420
  REMARK    GeneRIF: Multi-omics profiling reveals cellular pathways and
            functions regulated by ALDH1B1 in colon cancer cells.
REFERENCE   2  (bases 1 to 3028)
  AUTHORS   Feng,Z., Hom,M.E., Bearrood,T.E., Rosenthal,Z.C., Fernandez,D.,
            Ondrus,A.E., Gu,Y., McCormick,A.K., Tomaske,M.G., Marshall,C.R.,
            Kline,T., Chen,C.H., Mochly-Rosen,D., Kuo,C.J. and Chen,J.K.
  TITLE     Targeting colorectal cancer with small-molecule inhibitors of
            ALDH1B1
  JOURNAL   Nat Chem Biol 18 (10), 1065-1075 (2022)
   PUBMED   35788181
  REMARK    GeneRIF: Targeting colorectal cancer with small-molecule inhibitors
            of ALDH1B1.
            Erratum:[Nat Chem Biol. 2025 Feb;21(2):309. doi:
            10.1038/s41589-024-01810-2.. PMID: 39653787]
REFERENCE   3  (bases 1 to 3028)
  AUTHORS   Tsochantaridis,I., Kontopoulos,A., Voulgaridou,G.P.,
            Tsifintaris,M., Triantafyllou,C. and Pappa,A.
  TITLE     Aldehyde Dehydrogenase 1B1 Is Implicated in DNA Damage Response in
            Human Colorectal Adenocarcinoma
  JOURNAL   Cells 11 (13), 2017 (2022)
   PUBMED   35805102
  REMARK    GeneRIF: Aldehyde Dehydrogenase 1B1 Is Implicated in DNA Damage
            Response in Human Colorectal Adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3028)
  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   5  (bases 1 to 3028)
  AUTHORS   Baek,S.H. and Jang,Y.K.
  TITLE     AMBRA1 Negatively Regulates the Function of ALDH1B1, a Cancer Stem
            Cell Marker, by Controlling Its Ubiquitination
  JOURNAL   Int J Mol Sci 22 (21), 12079 (2021)
   PUBMED   34769507
  REMARK    GeneRIF: AMBRA1 Negatively Regulates the Function of ALDH1B1, a
            Cancer Stem Cell Marker, by Controlling Its Ubiquitination.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3028)
  AUTHORS   Stewart,M.J., Malek,K., Xiao,Q., Dipple,K.M. and Crabb,D.W.
  TITLE     The novel aldehyde dehydrogenase gene, ALDH5, encodes an active
            aldehyde dehydrogenase enzyme
  JOURNAL   Biochem Biophys Res Commun 211 (1), 144-151 (1995)
   PUBMED   7779080
REFERENCE   7  (bases 1 to 3028)
  AUTHORS   Hiraoka,L.R., Hsu,L. and Hsieh,C.L.
  TITLE     Assignment of ALDH3 to human chromosome 17p11.2 and ALDH5 to human
            chromosome 9p13
  JOURNAL   Genomics 25 (1), 323-325 (1995)
   PUBMED   7774944
REFERENCE   8  (bases 1 to 3028)
  AUTHORS   Sherman,D., Dave,V., Hsu,L.C., Peters,T.J. and Yoshida,A.
  TITLE     Diverse polymorphism within a short coding region of the human
            aldehyde dehydrogenase-5 (ALDH5) gene
  JOURNAL   Hum Genet 92 (5), 477-480 (1993)
   PUBMED   8244338
REFERENCE   9  (bases 1 to 3028)
  AUTHORS   Yoshida,A.
  TITLE     Molecular genetics of human aldehyde dehydrogenase
  JOURNAL   Pharmacogenetics 2 (4), 139-147 (1992)
   PUBMED   1306115
  REMARK    Review article
REFERENCE   10 (bases 1 to 3028)
  AUTHORS   Hsu,L.C. and Chang,W.C.
  TITLE     Cloning and characterization of a new functional human aldehyde
            dehydrogenase gene
  JOURNAL   J Biol Chem 266 (19), 12257-12265 (1991)
   PUBMED   2061311
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB256700.1, DA599259.1,
            AK313344.1, AL135785.10 and AI803741.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000692.4.
            
            Summary: This protein belongs to the aldehyde dehydrogenases family
            of proteins. Aldehyde dehydrogenase is the second enzyme of the
            major oxidative pathway of alcohol metabolism. This gene does not
            contain introns in the coding sequence. The variation of this locus
            may affect the development of alcohol-related problems. [provided
            by RefSeq, Jul 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 :: BC001619.1, SRR1803614.55344.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000377698.4/
                                                  ENSP00000366927.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-309               DB256700.1         53-361
            310-526             DA599259.1         278-494
            527-871             AK313344.1         528-872
            872-3008            AL135785.10        38658-40794         c
            3009-3028           AI803741.1         23-42               c
FEATURES             Location/Qualifiers
     source          1..3028
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p13.1"
     gene            1..3028
                     /gene="ALDH1B1"
                     /gene_synonym="ALDH5; ALDHX"
                     /note="aldehyde dehydrogenase 1 family member B1"
                     /db_xref="GeneID:219"
                     /db_xref="HGNC:HGNC:407"
                     /db_xref="MIM:100670"
     exon            1..106
                     /gene="ALDH1B1"
                     /gene_synonym="ALDH5; ALDHX"
                     /inference="alignment:Splign:2.1.0"
     exon            107..3028
                     /gene="ALDH1B1"
                     /gene_synonym="ALDH5; ALDHX"
                     /inference="alignment:Splign:2.1.0"
     CDS             116..1669
                     /gene="ALDH1B1"
                     /gene_synonym="ALDH5; ALDHX"
                     /EC_number="1.2.1.3"
                     /note="aldehyde dehydrogenase 5; acetaldehyde
                     dehydrogenase 5; ALDH class 2; aldehyde dehydrogenase X,
                     mitochondrial; epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="aldehyde dehydrogenase X, mitochondrial
                     precursor"
                     /protein_id="NP_000683.3"
                     /db_xref="CCDS:CCDS6615.1"
                     /db_xref="GeneID:219"
                     /db_xref="HGNC:HGNC:407"
                     /db_xref="MIM:100670"
                     /translation="MLRFLAPRLLSLQGRTARYSSAAALPSPILNPDIPYNQLFINNE
                     WQDAVSKKTFPTVNPTTGEVIGHVAEGDRADVDRAVKAAREAFRLGSPWRRMDASERG
                     RLLNRLADLVERDRVYLASLETLDNGKPFQESYALDLDEVIKVYRYFAGWADKWHGKT
                     IPMDGQHFCFTRHEPVGVCGQIIPWNFPLVMQGWKLAPALATGNTVVMKVAEQTPLSA
                     LYLASLIKEAGFPPGVVNIITGYGPTAGAAIAQHVDVDKVAFTGSTEVGHLIQKAAGD
                     SNLKRVTLELGGKSPSIVLADADMEHAVEQCHEALFFNMGQCCCAGSRTFVEESIYNE
                     FLERTVEKAKQRKVGNPFELDTQQGPQVDKEQFERVLGYIQLGQKEGAKLLCGGERFG
                     ERGFFIKPTVFGGVQDDMRIAKEEIFGPVQPLFKFKKIEEVVERANNTRYGLAAAVFT
                     RDLDKAMYFTQALQAGTVWVNTYNIVTCHTPFGGFKESGNGRELGEDGLKAYTEVKTV
                     TIKVPQKNS"
     regulatory      3002..3007
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALDH1B1"
                     /gene_synonym="ALDH5; ALDHX"
                     /note="hexamer: AATAAA"
     polyA_site      3028
                     /gene="ALDH1B1"
                     /gene_synonym="ALDH5; ALDHX"
                     /note="major polyA site"
ORIGIN      
        1 ggaggcggga cctgcggcca gccctgggcg gccatgtgga cagagctggg agggccggaa
       61 ccagaaccca agcgtgatcc tgaaccggag cccgagcctg ctgcagagtg tcagcatgct
      121 gcgcttcctg gcaccccggc tgcttagcct ccagggcagg accgcccgct actcctcggc
      181 agcagccctc ccaagcccca ttctgaaccc agacatcccc tacaaccagc tgttcatcaa
      241 caatgaatgg caagatgcag tcagcaagaa gaccttcccg acggtcaacc ctaccaccgg
      301 ggaggtcatt gggcacgtgg ctgaaggtga ccgggctgat gtggatcggg ccgtgaaagc
      361 agcccgggaa gccttccgcc tggggtcccc atggcgccgg atggatgcct ctgagcgggg
      421 ccggctgctg aaccgcctgg cagacctagt ggagcgggat cgagtctact tggcctcact
      481 cgagaccttg gacaatggga agcctttcca agagtcttac gccttggact tggatgaggt
      541 catcaaggtg tatcggtact ttgctggctg ggctgacaag tggcatggca agaccatccc
      601 catggatggc cagcatttct gcttcacccg gcatgagccc gttggtgtct gtggccagat
      661 catcccgtgg aacttcccct tggtcatgca gggttggaaa cttgccccgg cactcgccac
      721 aggcaacact gtggttatga aggtggcaga gcagaccccc ctctctgccc tgtatttggc
      781 ctccctcatc aaggaggcag gctttccccc tggggtggtg aacatcatca cggggtatgg
      841 cccaacagca ggtgcggcca tcgcccagca cgtggatgtt gacaaagttg ccttcaccgg
      901 ttccaccgag gtgggccacc tgatccagaa agcagctggc gattccaacc tcaagagagt
      961 caccctggag ctgggtggta agagccccag catcgtgctg gccgatgctg acatggagca
     1021 tgccgtggag cagtgccacg aagccctgtt cttcaacatg ggccagtgct gctgtgctgg
     1081 ctcccggacc ttcgtggaag aatccatcta caatgagttt ctcgagagaa ccgtggagaa
     1141 agcaaagcag aggaaagtgg ggaacccctt tgagctggac acccagcagg ggcctcaggt
     1201 ggacaaggag cagtttgaac gagtcctagg ctacatccag cttggccaga aggagggcgc
     1261 aaaactcctc tgtggcggag agcgtttcgg ggagcgtggt ttcttcatca agcctactgt
     1321 ctttggtggc gtgcaggatg acatgagaat tgccaaagag gagatctttg ggcctgtgca
     1381 gcccctgttc aagttcaaga agattgagga ggtggttgag agggccaaca acaccaggta
     1441 tggcctggct gcggctgtgt tcacccggga tctggacaag gccatgtact tcacccaggc
     1501 actccaggcc gggaccgtgt gggtaaacac ctacaacatc gtcacctgcc acacgccatt
     1561 tggagggttt aaggaatctg gaaacgggag ggagctgggt gaggatgggc ttaaggccta
     1621 cacagaggta aagacggtca ccatcaaggt tcctcagaag aactcgtaag agcagctgtc
     1681 agggaggccc agtcacagtc cagcaattcc acaaccacct tgacgaatgc ttgccaagct
     1741 gttttaaagc caagaacacc ctttctttgt tccaaattaa ctcttagaag aaaccccaca
     1801 aataaagcaa ttcaatcaag gctgttctat ttaaatcaga gatggggacc aggctcagag
     1861 ttctacctat ctaaccccca accacagccc ccttggtggc ccatgagttg cttccatgaa
     1921 atcttaggag tctctggagg acagattaaa aaccagtgat ctgtaatttg tagctcttcc
     1981 tgctgatcca aggactttcc catgggtgcg cttgatggtt tagtggatcg actcaactca
     2041 gaacacaagc ttggaaagtg ttaggggttt tgaactaggt ggatactaaa tctcggcccc
     2101 actcttcatt ggcttaacct aaaaaccaga ggtgcttttc cttgtctgtg tgccagttgc
     2161 tggctgtttt agttgcttgc ccttcatttt gctactgatt ttccttaatt tgtgggaagg
     2221 agtaggcaaa gaatatgctt acatgattac acctgtaaag taagcccaaa catcccaaat
     2281 gtccgtcaac tgatgagtgg attaataaaa tgtttccatg gaatattcct tggattactc
     2341 agccataaaa aggaatgaag tactgacaca tgctgtgaca tcagtgaacc ctgaaaacat
     2401 ccttctcagt gaaacaagcc agagagatgt acaaggctac agactgtatg attccattta
     2461 tatgaaatat acatactagg caaatccatg gagatggaac atagattagt ggttgccagg
     2521 ggatagagga gtaattgtta gtgggcatgg gatttgtttt tgggaggttt tgaaaatgtt
     2581 ctggagttga acaatagtaa tggttgcatg atttggtaaa aatactaaaa actatggaat
     2641 tgtttaatta tggtatatga attaatttct ttcttttttt cttttttttt tttttttttg
     2701 acacggagtc tcactctgtc gcccaggctg gagtgcagtg gtgtgatctc gtctcactgc
     2761 aacctccgcc tcccagattc aagcgattct cctgtctcag cctcctgagt agctgggatt
     2821 ataggtacat gccatcacac ctggctaatt tttgtatttt tagtagagat gaggtttcac
     2881 cattttggcc aggctgatct tgaactcctg acctcaggtg atccacccgc ctcagcctcc
     2941 caaagtgctg ggattacagg tgggagccac aacacccggc catgaattaa ctccgttaaa
     3001 aaataaacgt atacattctg tgagcaaa
//
