LOCUS       NM_000382               3703 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens aldehyde dehydrogenase 3 family member A2 (ALDH3A2),
            transcript variant 2, mRNA.
ACCESSION   NM_000382
VERSION     NM_000382.3
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 3703)
  AUTHORS   Dong,H., He,L., Sun,Q., Zhan,J., Li,J., Xiong,X., Zhuang,L., Wu,S.,
            Li,Y., Yin,C. and He,Q.
  TITLE     Inhibit ALDH3A2 reduce ovarian cancer cells survival via elevating
            ferroptosis sensitivity
  JOURNAL   Gene 876, 147515 (2023)
   PUBMED   37247796
  REMARK    GeneRIF: Inhibit ALDH3A2 reduce ovarian cancer cells survival via
            elevating ferroptosis sensitivity.
REFERENCE   2  (bases 1 to 3703)
  AUTHORS   Rajeshwari,M., Karthi,S., Singh,R., Efthymiou,S., Gowda,V.K.,
            Varalakshmi,P., Srinivasan,V.M., Houlden,H., Keller,M.A.,
            Rizzo,W.B. and Ashokkumar,B.
  TITLE     Novel ALDH3A2 mutations in structural and functional domains of
            FALDH causing diverse clinical phenotypes in Sjogren-Larsson
            syndrome patients
  JOURNAL   Hum Mutat 42 (8), 1015-1029 (2021)
   PUBMED   34082469
  REMARK    GeneRIF: Novel ALDH3A2 mutations in structural and functional
            domains of FALDH causing diverse clinical phenotypes in
            Sjogren-Larsson syndrome patients.
REFERENCE   3  (bases 1 to 3703)
  AUTHORS   Yin,Z., Wu,D., Shi,J., Wei,X., Jin,N., Lu,X. and Ren,X.
  TITLE     Identification of ALDH3A2 as a novel prognostic biomarker in
            gastric adenocarcinoma using integrated bioinformatics analysis
  JOURNAL   BMC Cancer 20 (1), 1062 (2020)
   PUBMED   33148208
  REMARK    GeneRIF: Identification of ALDH3A2 as a novel prognostic biomarker
            in gastric adenocarcinoma using integrated bioinformatics analysis.
            Erratum:[BMC Cancer. 2020 Nov 24;20(1):1141. doi:
            10.1186/s12885-020-07659-7.. PMID: 33234125]
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3703)
  AUTHORS   Abidi,K.T., Kamal,N.M., Bakkar,A. AA, Alotaibi,M., Asseri,H. and
            Bokari,K.A.
  TITLE     Sjogren-Larsson Syndrome: A case series of five members from an
            extended family with a novel mutation
  JOURNAL   Mol Genet Genomic Med 8 (11), e1487 (2020)
   PUBMED   32930514
  REMARK    GeneRIF: Sjogren-Larsson Syndrome: A case series of five members
            from an extended family with a novel mutation.
REFERENCE   5  (bases 1 to 3703)
  AUTHORS   Rogers,G.R., Markova,N.G., De Laurenzi,V., Rizzo,W.B. and
            Compton,J.G.
  TITLE     Genomic organization and expression of the human fatty aldehyde
            dehydrogenase gene (FALDH)
  JOURNAL   Genomics 39 (2), 127-135 (1997)
   PUBMED   9027499
REFERENCE   6  (bases 1 to 3703)
  AUTHORS   De Laurenzi,V., Rogers,G.R., Hamrock,D.J., Marekov,L.N.,
            Steinert,P.M., Compton,J.G., Markova,N. and Rizzo,W.B.
  TITLE     Sjogren-Larsson syndrome is caused by mutations in the fatty
            aldehyde dehydrogenase gene
  JOURNAL   Nat Genet 12 (1), 52-57 (1996)
   PUBMED   8528251
REFERENCE   7  (bases 1 to 3703)
  AUTHORS   Rogers,G.R., Rizzo,W.B., Zlotogorski,A., Hashem,N., Lee,M.,
            Compton,J.G. and Bale,S.J.
  TITLE     Genetic homogeneity in Sjogren-Larsson syndrome: linkage to
            chromosome 17p in families of different non-Swedish ethnic origins
  JOURNAL   Am J Hum Genet 57 (5), 1123-1129 (1995)
   PUBMED   7485163
REFERENCE   8  (bases 1 to 3703)
  AUTHORS   Pigg,M., Jagell,S., Sillen,A., Weissenbach,J., Gustavson,K.H. and
            Wadelius,C.
  TITLE     The Sjogren-Larsson syndrome gene is close to D17S805 as determined
            by linkage analysis and allelic association
  JOURNAL   Nat Genet 8 (4), 361-364 (1994)
   PUBMED   7894487
  REMARK    Erratum:[Nat Genet 1995 Apr;9(4):451]
REFERENCE   9  (bases 1 to 3703)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24501781
REFERENCE   10 (bases 1 to 3703)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB261079.1, AK292381.1,
            AB208894.1, AK123877.1 and AC005722.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Mar 20, 2019 this sequence version replaced NM_000382.2.
            
            Summary: Aldehyde dehydrogenase isozymes are thought to play a
            major role in the detoxification of aldehydes generated by alcohol
            metabolism and lipid peroxidation. This gene product catalyzes the
            oxidation of long-chain aliphatic aldehydes to fatty acid.
            Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively
            spliced transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) lacks an alternate segment in
            the 3' coding region compared to variant 1. Isoform 2 has a shorter
            and different C-terminus, compared to 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##
            RNAseq introns :: single sample supports all introns SAMEA1965299,
                              SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000176643.11/ ENSP00000176643.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-34                DB261079.1         1-34
            35-1724             AK292381.1         2-1691
            1725-3287           AB208894.1         1433-2995
            3288-3702           AK123877.1         3098-3512
            3703-3703           AC005722.1         157534-157534       c
FEATURES             Location/Qualifiers
     source          1..3703
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p11.2"
     gene            1..3703
                     /gene="ALDH3A2"
                     /gene_synonym="ALDH10; FALDH; SLS"
                     /note="aldehyde dehydrogenase 3 family member A2"
                     /db_xref="GeneID:224"
                     /db_xref="HGNC:HGNC:403"
                     /db_xref="MIM:609523"
     exon            1..374
                     /gene="ALDH3A2"
                     /gene_synonym="ALDH10; FALDH; SLS"
                     /inference="alignment:Splign:2.1.0"
     CDS             222..1679
                     /gene="ALDH3A2"
                     /gene_synonym="ALDH10; FALDH; SLS"
                     /EC_number="1.2.1.3"
                     /EC_number="1.2.1.94"
                     /note="isoform 2 is encoded by transcript variant 2;
                     aldehyde dehydrogenase 10; fatty aldehyde dehydrogenase;
                     microsomal aldehyde dehydrogenase; aldehyde dehydrogenase
                     family 3 member A2"
                     /codon_start=1
                     /product="aldehyde dehydrogenase family 3 member A2
                     isoform 2"
                     /protein_id="NP_000373.1"
                     /db_xref="CCDS:CCDS11210.1"
                     /db_xref="GeneID:224"
                     /db_xref="HGNC:HGNC:403"
                     /db_xref="MIM:609523"
                     /translation="MELEVRRVRQAFLSGRSRPLRFRLQQLEALRRMVQEREKDILTA
                     IAADLCKSEFNVYSQEVITVLGEIDFMLENLPEWVTAKPVKKNVLTMLDEAYIQPQPL
                     GVVLIIGAWNYPFVLTIQPLIGAIAAGNAVIIKPSELSENTAKILAKLLPQYLDQDLY
                     IVINGGVEETTELLKQRFDHIFYTGNTAVGKIVMEAAAKHLTPVTLELGGKSPCYIDK
                     DCDLDIVCRRITWGKYMNCGQTCIAPDYILCEASLQNQIVWKIKETVKEFYGENIKES
                     PDYERIINLRHFKRILSLLEGQKIAFGGETDEATRYIAPTVLTDVDPKTKVMQEEIFG
                     PILPIVPVKNVDEAINFINEREKPLALYVFSHNHKLIKRMIDETSSGGVTGNDVIMHF
                     TLNSFPFGGVGSSGMGAYHGKHSFDTFSHQRPCLLKSLKREGANKLRYPPNSQSKVDW
                     GKFFLLKRFNKEKLGLLLLTFLGIVAAVLVKAEYY"
     exon            375..606
                     /gene="ALDH3A2"
                     /gene_synonym="ALDH10; FALDH; SLS"
                     /inference="alignment:Splign:2.1.0"
     exon            607..692
                     /gene="ALDH3A2"
                     /gene_synonym="ALDH10; FALDH; SLS"
                     /inference="alignment:Splign:2.1.0"
     exon            693..901
                     /gene="ALDH3A2"
                     /gene_synonym="ALDH10; FALDH; SLS"
                     /inference="alignment:Splign:2.1.0"
     exon            902..1019
                     /gene="ALDH3A2"
                     /gene_synonym="ALDH10; FALDH; SLS"
                     /inference="alignment:Splign:2.1.0"
     exon            1020..1161
                     /gene="ALDH3A2"
                     /gene_synonym="ALDH10; FALDH; SLS"
                     /inference="alignment:Splign:2.1.0"
     exon            1162..1328
                     /gene="ALDH3A2"
                     /gene_synonym="ALDH10; FALDH; SLS"
                     /inference="alignment:Splign:2.1.0"
     exon            1329..1428
                     /gene="ALDH3A2"
                     /gene_synonym="ALDH10; FALDH; SLS"
                     /inference="alignment:Splign:2.1.0"
     exon            1429..1664
                     /gene="ALDH3A2"
                     /gene_synonym="ALDH10; FALDH; SLS"
                     /inference="alignment:Splign:2.1.0"
     exon            1665..3703
                     /gene="ALDH3A2"
                     /gene_synonym="ALDH10; FALDH; SLS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1832..1837
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALDH3A2"
                     /gene_synonym="ALDH10; FALDH; SLS"
                     /note="hexamer: AATAAA"
     polyA_site      1851
                     /gene="ALDH3A2"
                     /gene_synonym="ALDH10; FALDH; SLS"
                     /note="major polyA site"
     regulatory      3494..3499
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALDH3A2"
                     /gene_synonym="ALDH10; FALDH; SLS"
                     /note="hexamer: GATAAA"
     polyA_site      3519
                     /gene="ALDH3A2"
                     /gene_synonym="ALDH10; FALDH; SLS"
                     /note="major polyA site"
     regulatory      3677..3682
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALDH3A2"
                     /gene_synonym="ALDH10; FALDH; SLS"
                     /note="hexamer: TATAAA"
     polyA_site      3703
                     /gene="ALDH3A2"
                     /gene_synonym="ALDH10; FALDH; SLS"
                     /note="major polyA site"
ORIGIN      
        1 agtcctcccc cggcgcctcc gactggcagt gggactcagc gggcgtggag gtcgcggctg
       61 agcgagcgag ccctgggcga gtgaattgtg gctgtgggtt gacggtggag acaccccccg
      121 gagggaggcg gagggaaggg aggcgaggcc tgcacctgca tgcttcccgc ctcccactcc
      181 ccagcgcccc cggaccgtgc agttctctgc aggaccaggc catggagctc gaagtccggc
      241 gggtccgaca ggcgttcctg tccggccggt cgcgacctct gcggtttcgg ctgcagcagc
      301 tggaggccct gcggaggatg gtgcaggagc gcgagaagga tatcctgacg gccatcgccg
      361 ccgacctgtg caagagtgaa ttcaatgtgt acagtcagga agtcattact gtccttgggg
      421 aaattgattt tatgcttgag aatcttcctg aatgggttac tgctaaacca gttaagaaga
      481 acgtgctcac catgctggat gaggcctata ttcagccaca gcctctggga gtggtgctga
      541 taatcggagc ttggaattac cccttcgttc tcaccattca gccactgata ggagccatcg
      601 ctgcaggaaa tgctgtgatt ataaagcctt ctgaactgag tgaaaataca gccaagatct
      661 tggcaaagct tctccctcag tatttagacc aggatctcta tattgttatt aatggtggtg
      721 ttgaggaaac cacggagctc ctgaagcagc gatttgacca cattttctat acgggaaaca
      781 ctgcggttgg caaaattgtc atggaagctg ctgccaagca tctgacccct gtgactcttg
      841 aactgggagg gaaaagtcca tgttatattg ataaagattg tgacctggac attgtttgca
      901 gacgcataac ctggggaaaa tacatgaatt gtggccaaac ctgcattgca cccgactata
      961 ttctctgtga agcatccctc caaaatcaaa ttgtatggaa gattaaggaa acagtgaagg
     1021 aattttatgg agaaaatata aaagagtctc ctgattatga aaggatcatc aatcttcgtc
     1081 attttaagag gatactaagt ttgcttgaag gacaaaagat agcttttggt ggggagactg
     1141 atgaggccac acgctacata gccccaacag tacttaccga tgttgatcct aaaaccaagg
     1201 tgatgcaaga agaaattttt ggaccaattc ttccaatagt gcctgtgaaa aatgtagatg
     1261 aggccataaa tttcataaat gaacgtgaaa agcctctggc tctttatgta ttttcgcata
     1321 accataagct catcaaacgg atgattgatg agacatccag tggaggtgtc acaggcaatg
     1381 acgtcattat gcacttcacg ctcaactctt tcccatttgg aggagtgggt tccagtggga
     1441 tgggagctta tcacggaaaa catagttttg atactttttc tcatcagcgt ccctgtttat
     1501 taaaaagttt aaagagagaa ggtgctaaca aactcagata tcctcccaac agccagtcaa
     1561 aggtggattg gggaaaattt tttctcttga aacggttcaa caaagaaaaa ctcggtctcc
     1621 tgttgctcac tttcctgggt attgtagccg ctgtgcttgt caaggcagaa tattactgaa
     1681 gaatgatcct gttcaacctc ctagtgcctc tactgaatta ttcctctttt aaatggttaa
     1741 tgaaccaata atttttaaat cataccaaaa atagtaagaa aatatgcaaa cactctgtga
     1801 tcaaacttaa aagtcattgc cattcatcat taataaaagt tgccatttca actacgtccc
     1861 aacattccct aatagggtat tcagggaacc tgtcttaaat tgtgcttatc taaatcttgg
     1921 aactttgagc taggggagga gaatgtatta gactaaatac aaactgcggg gttgtaaggg
     1981 agtctcagaa cctcactgaa tccttcactc cagttaatgg cactgctcac ttcctgcctc
     2041 tgctgccacc atcactgtgt gaagctttca agagcttggt acttcccagg gctaccggca
     2101 gtcctctgta gtccagagag gtgagattag atcttcttgg ttccctgtga ggtttcaggc
     2161 actaaaactc tatgtgggga agggaggggt tactcctcct ccaatgggac tcaaggactt
     2221 gacctccagg agtaggcccc tggtcagaag tgccatctca ccagtggtct tcattcttcc
     2281 tcattcattc tttatcatcc tgtgttctgt ttagttgcaa caatctcttg tgactaatgt
     2341 cactcaaagc atcttgtaaa tcctagggct tcctggaagt tagttgccaa agtcatgcaa
     2401 gcatcacctg tcattcttgt gttggagtta tagaattcta catcttataa aacctaactg
     2461 gcatttaaaa aatactgtgg ccgggcgtgg tggctcatgc ctgtaatccc agcactttgg
     2521 gaggccgagg tgggaggatt gcttgagtcc aggaatttga gaccagcctg gacaacacag
     2581 tgagacctca tctctatcaa aaaataaaaa ttagctagat gtggtggcat gagcctgtgt
     2641 tcccagctgc ttaggaggct gaagcaggag gattgattga gcctgcgagg ccaaggctgc
     2701 agcaggctgt gattgcacca ctgcacttca gcttgggcaa cagagcaaga ccctgtctcc
     2761 gaaacaaata aaaaatactg taataaaagt acttataaac atactaatcc tctttcagga
     2821 ccctaaagtt gcaggttagt aggtcttcaa ggacaaatct gtaagtttct tatttctgta
     2881 gtgcaagtaa aatttcactt tttgaaacta tagagagatc cctttctgat tagcctacag
     2941 aacttaaagt gagggaacca tttcctctca cagacaaaga ggcctgggat attaggactt
     3001 tggggtttga gagcatcatg gggcagacag atggtggatg gtctggacaa gaagcgagta
     3061 agccactgcg gttggtcata ctgaagggaa ttgatggcaa gaggatcccc tgagcaagtc
     3121 agaagttact ctcatcagtc gttcatggtc acaacctgag gtactctgct gagtgggcaa
     3181 ggctgaagaa gaggcctgtg gaatgcagca ttacctgctg gacagagcag ggcaggcagt
     3241 tctatgcctt ggagctcctg actgcaggga ctctgtcccc acactcaaaa agactcagct
     3301 cactcaatga gagaatgtga tttactttat agaacgtata atcaactttg ttgaataatt
     3361 tgttctatta aggctgtcta aagtatgtga tgtcttcatc atagtatgaa gtgttgaaaa
     3421 ttaataacga gcctagttta ggaaaaagct gcttaaaact gtggctctaa gagagtaatc
     3481 ataaaatacc ttagataaaa ttgcactatg gaattttcat tgagtatgtt taaattattg
     3541 gcttgtctac taatacacat ctgcttcaaa atgaacatat ttcataaaat tggcatcaat
     3601 tttaatgacg ctcctggtat ggaacctcag atatacccta ttggagacaa tcctttgatc
     3661 ataaattctc cccaactata aatcatttta tgtctttatc ata
//
