LOCUS       NM_001393402            2650 bp    mRNA    linear   PRI 08-DEC-2024
DEFINITION  Homo sapiens aldehyde dehydrogenase 3 family member B2 (ALDH3B2),
            transcript variant 5, mRNA.
ACCESSION   NM_001393402
VERSION     NM_001393402.2
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 2650)
  AUTHORS   Wang,Y., Li,K., Zhao,W., Liu,Z., Liu,J., Shi,A., Chen,T., Mu,W.,
            Xu,Y., Pan,C. and Zhang,Z.
  TITLE     Aldehyde dehydrogenase 3B2 promotes the proliferation and invasion
            of cholangiocarcinoma by increasing Integrin Beta 1 expression
  JOURNAL   Cell Death Dis 12 (12), 1158 (2021)
   PUBMED   34907179
  REMARK    GeneRIF: Aldehyde dehydrogenase 3B2 promotes the proliferation and
            invasion of cholangiocarcinoma by increasing Integrin Beta 1
            expression.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2650)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 2650)
  AUTHORS   Michorowska,S., Giebultowicz,J., Wolinowska,R., Konopka,A.,
            Wilkaniec,A., Krajewski,P., Bulska,E. and Wroczynski,P.
  TITLE     Detection of ALDH3B2 in Human Placenta
  JOURNAL   Int J Mol Sci 20 (24), 6292 (2019)
   PUBMED   31847104
  REMARK    GeneRIF: Despite premature stop codon in DNA and mRNA sequences,
            full-length ALDH3B2 was found. It can be formed as a result of
            premature stop codon readthrough, complex phenomenon enabling stop
            codon circumvention.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2650)
  AUTHORS   Laqqan,M., Tierling,S., Alkhaled,Y., Lo Porto,C., Solomayer,E.F.
            and Hammadeh,M.
  TITLE     Spermatozoa from males with reduced fecundity exhibit differential
            DNA methylation patterns
  JOURNAL   Andrology 5 (5), 971-978 (2017)
   PUBMED   28544631
REFERENCE   5  (bases 1 to 2650)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (bases 1 to 2650)
  AUTHORS   Davila,S., Froeling,F.E., Tan,A., Bonnard,C., Boland,G.J.,
            Snippe,H., Hibberd,M.L. and Seielstad,M.
  TITLE     New genetic associations detected in a host response study to
            hepatitis B vaccine
  JOURNAL   Genes Immun 11 (3), 232-238 (2010)
   PUBMED   20237496
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2650)
  AUTHORS   Saito,A., Kawamoto,M. and Kamatani,N.
  TITLE     Association study between single-nucleotide polymorphisms in 199
            drug-related genes and commonly measured quantitative traits of 752
            healthy Japanese subjects
  JOURNAL   J Hum Genet 54 (6), 317-323 (2009)
   PUBMED   19343046
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 2650)
  AUTHORS   Hsu,L.C., Chang,W.C. and Yoshida,A.
  TITLE     Human aldehyde dehydrogenase genes, ALDH7 and ALDH8: genomic
            organization and gene structure comparison
  JOURNAL   Gene 189 (1), 89-94 (1997)
   PUBMED   9161417
REFERENCE   9  (bases 1 to 2650)
  AUTHORS   Hsu,L.C. and Chang,W.C.
  TITLE     Sequencing and expression of the human ALDH8 encoding a new member
            of the aldehyde dehydrogenase family
  JOURNAL   Gene 174 (2), 319-322 (1996)
   PUBMED   8890755
REFERENCE   10 (bases 1 to 2650)
  AUTHORS   Hsu,L.C., Chang,W.C., Lin,S.W. and Yoshida,A.
  TITLE     Cloning and characterization of genes encoding four additional
            human aldehyde dehydrogenase isozymes
  JOURNAL   Adv Exp Med Biol 372, 159-168 (1995)
   PUBMED   7484374
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP003385.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 10, 2021 this sequence version replaced NM_001393402.1.
            
            Summary: This gene encodes a member of the aldehyde dehydrogenase
            family, a group of isozymes that may play a major role in the
            detoxification of aldehydes generated by alcohol metabolism and
            lipid peroxidation. The gene of this particular family member is
            over 10 kb in length. Altered methylation patterns at this locus
            have been observed in spermatozoa derived from patients exhibiting
            reduced fecundity. [provided by RefSeq, Aug 2017].
            
            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 :: AK092464.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144335 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000673966.2/ ENSP00000501254.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-188               AP003385.2         72830-73017         c
            189-351             AP003385.2         65867-66029         c
            352-462             AP003385.2         65300-65410         c
            463-583             AP003385.2         64968-65088         c
            584-669             AP003385.2         64710-64795         c
            670-751             AP003385.2         64516-64597         c
            752-1138            AP003385.2         63679-64065         c
            1139-1305           AP003385.2         62790-62956         c
            1306-1405           AP003385.2         62056-62155         c
            1406-2650           AP003385.2         60549-61793         c
FEATURES             Location/Qualifiers
     source          1..2650
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.2"
     gene            1..2650
                     /gene="ALDH3B2"
                     /gene_synonym="ALDH8"
                     /note="aldehyde dehydrogenase 3 family member B2"
                     /db_xref="GeneID:222"
                     /db_xref="HGNC:HGNC:411"
                     /db_xref="MIM:601917"
     exon            1..188
                     /gene="ALDH3B2"
                     /gene_synonym="ALDH8"
                     /inference="alignment:Splign:2.1.0"
     exon            189..351
                     /gene="ALDH3B2"
                     /gene_synonym="ALDH8"
                     /inference="alignment:Splign:2.1.0"
     exon            352..462
                     /gene="ALDH3B2"
                     /gene_synonym="ALDH8"
                     /inference="alignment:Splign:2.1.0"
     CDS             433..1590
                     /gene="ALDH3B2"
                     /gene_synonym="ALDH8"
                     /EC_number="1.2.1.3"
                     /EC_number="1.2.1.48"
                     /note="isoform a is encoded by transcript variant 5;
                     aldehyde dehydrogenase 8; acetaldehyde dehydrogenase 8;
                     aldehyde dehydrogenase family 3 member B2; long-chain
                     fatty aldehyde dehydrogenase"
                     /codon_start=1
                     /product="aldehyde dehydrogenase family 3 member B2
                     isoform a"
                     /protein_id="NP_001380331.1"
                     /db_xref="CCDS:CCDS31622.1"
                     /db_xref="GeneID:222"
                     /db_xref="HGNC:HGNC:411"
                     /db_xref="MIM:601917"
                     /translation="MKDEPRSTNLFMKLDSVFIWKEPFGLVLIIAPWNYPLNLTLVLL
                     VGALAAGSCVVLKPSEISQGTEKVLAEVLPQYLDQSCFAVVLGGPQETGQLLEHKLDY
                     IFFTGSPRVGKIVMTAATKHLTPVTLELGGKNPCYVDDNCDPQTVANRVAWFCYFNAG
                     QTCVAPDYVLCSPEMQERLLPALQSTITRFYGDDPQSSPNLGHIINQKQFQRLRALLG
                     CSRVAIGGQSNESDRYIAPTVLVDVQETEPVMQEEIFGPILPIVNVQSVDEAIKFINR
                     QEKPLALYAFSNSSQVVNQMLERTSSGSFGGNEGFTYISLLSVPFGGVGHSGMGRYHG
                     KFTFDTFSHHRTCLLAPSGLEKLKEIHYPPYTDWNQQLLRWGMGSQSCTLL"
     exon            463..583
                     /gene="ALDH3B2"
                     /gene_synonym="ALDH8"
                     /inference="alignment:Splign:2.1.0"
     exon            584..669
                     /gene="ALDH3B2"
                     /gene_synonym="ALDH8"
                     /inference="alignment:Splign:2.1.0"
     exon            670..751
                     /gene="ALDH3B2"
                     /gene_synonym="ALDH8"
                     /inference="alignment:Splign:2.1.0"
     exon            752..1138
                     /gene="ALDH3B2"
                     /gene_synonym="ALDH8"
                     /inference="alignment:Splign:2.1.0"
     exon            1139..1305
                     /gene="ALDH3B2"
                     /gene_synonym="ALDH8"
                     /inference="alignment:Splign:2.1.0"
     exon            1306..1405
                     /gene="ALDH3B2"
                     /gene_synonym="ALDH8"
                     /inference="alignment:Splign:2.1.0"
     exon            1406..2650
                     /gene="ALDH3B2"
                     /gene_synonym="ALDH8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2623..2628
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALDH3B2"
                     /gene_synonym="ALDH8"
                     /note="hexamer: AATAAA"
     polyA_site      2650
                     /gene="ALDH3B2"
                     /gene_synonym="ALDH8"
                     /note="major polyA site"
ORIGIN      
        1 gattacccca ttgccaggcg tgggcacggg agttggtttg ggagctgcca gtctcctggg
       61 aggatcgcag tcagcagagc agggctgagg cctgggggta ggagcagagc ctgcgcatct
      121 ggaggcagca tgtccaagaa agggagtgga ggtgcagcga aggacccagg ggcagagccc
      181 acgctgggga tggacccctt cgaggacacg ctgcggcggc tgcgtgaggc cttcaactga
      241 gggcgcacgc ggccggccga gttccgggct gcgcagctcc agggcctggg ccacttcctt
      301 caagaaaaca agcagcttct gcgcgacgtg ctggcccagg acctgcataa gccagctttc
      361 gaggcagaca tatctgagct catcctttgc cagaacgagg ttgactacgc tctcaagaac
      421 ctgcaggcct ggatgaagga tgaaccacgg tccacgaacc tgttcatgaa gctggactcg
      481 gtcttcatct ggaaggaacc ctttggcctg gtcctcatca tcgcaccctg gaactaccca
      541 ctgaacctga ccctggtgct cctggtgggc gccctcgccg cagggagttg cgtggtgctg
      601 aagccgtcag aaatcagcca gggcacagag aaggtcctgg ctgaggtgct gccccagtac
      661 ctggaccaga gctgctttgc cgtggtgctg ggcggacccc aggagacagg gcagctgcta
      721 gagcacaagt tggactacat cttcttcaca gggagccctc gtgtgggcaa gattgtcatg
      781 actgctgcca ccaagcacct gacgcctgtc accctggagc tggggggcaa gaacccctgc
      841 tacgtggacg acaactgcga cccccagacc gtggccaacc gcgtggcctg gttctgctac
      901 ttcaatgccg gccagacctg cgtggcccct gactacgtcc tgtgcagccc cgagatgcag
      961 gagaggctgc tgcccgccct gcagagcacc atcacccgtt tctatggcga cgacccccag
     1021 agctccccaa acctgggcca catcatcaac cagaaacagt tccagcggct gcgggcattg
     1081 ctgggctgca gccgcgtggc cattgggggc cagagcaacg agagcgatcg ctacatcgcc
     1141 cccacggtgc tggtggacgt gcaggagacg gagcctgtga tgcaggagga gatcttcggg
     1201 cccatcctgc ccatcgtgaa cgtgcagagc gtggacgagg ccatcaagtt catcaaccgg
     1261 caggagaagc ccctggccct gtacgccttc tccaacagca gccaggttgt gaaccagatg
     1321 ctggagcgga ccagcagcgg cagctttgga ggcaatgagg gcttcaccta catatctctg
     1381 ctgtccgtgc cattcggggg agtcggccac agtgggatgg gccggtacca cggcaagttc
     1441 accttcgaca ccttctccca ccaccgcacc tgcctgctcg ccccctccgg cctggagaaa
     1501 ttaaaggaga tccactaccc accctatacc gactggaacc agcagctgtt acgctggggc
     1561 atgggctccc agagctgcac cctcctgtga gcgtcccacc cgcctccaac gggtcacaca
     1621 gagaaacctg agtctagcca tgaggggctt atgctcccaa ctcacattgt tcctccagac
     1681 cgcaggttcc cccagcctca ggttgctgga gctgtcacat gactgcatcc tgcctgccag
     1741 ggctgcaaag caaggtcttg cttctatctg ggggacgctg ctcgagagag gccaagaggc
     1801 cgcagaacat gccaggtgtc ctcactcacc ccaccctccc caattccagc cctttgccct
     1861 ctcggtcagg gttggccaga cccagtcaca ggggcagtgt caccctggaa aatacagtgc
     1921 cctgccttct taggggcatc agccctgaac ggttgagagc gtggagccct ccaggccttt
     1981 gctctcccct ctaggcacac gcgcacttcc atctctgccc catcccaact gcaccagcac
     2041 tgcctccccc agggatcctc tcacatccca cactggtctc tgcaccaccc ctctggttca
     2101 caccgcaccc tgcactcacc cacagcagct ccatccactg ggaaaactgg ggtttgcatc
     2161 actccactgc acagtgttag tgggacctgg gggcaagtcc cttgacttct ctgagcctca
     2221 gtttccttat gtgaaagttg ctggaaccaa aatggagtca cttatgccaa actctaataa
     2281 aatggagtcg gggggccaca tagaagccct cacacacaca tgcccgtaac aggatttatc
     2341 acaagacacg cctgcatgta gaccagacac agggcgtatg gaaagcacgt cctcaagact
     2401 gtagtattcc agatgagctg cagatgctta cctaccacgg ccgtctccac cagaaaacca
     2461 tcgccaactc ctgcgatcag cttgtgactt acaaaccttg tttaaaagct gcttacatgg
     2521 acttctgtcc tttaaaagct tccccttggc tgtggccctc tgtgtatgcc tgggatcctt
     2581 ccaagcactc atagcccaga taggaatcct ctgctcctcc caaataaatt catctgttct
     2641 ggagagccta
//
