LOCUS       NM_000693               3469 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens aldehyde dehydrogenase 1 family member A3 (ALDH1A3),
            transcript variant 1, mRNA.
ACCESSION   NM_000693
VERSION     NM_000693.4
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 3469)
  AUTHORS   Fernando,W., Cruickshank,B.M., Arun,R.P., MacLean,M.R.,
            Cahill,H.F., Morales-Quintanilla,F., Dean,C.A., Wasson,M.D.,
            Dahn,M.L., Coyle,K.M., Walker,O.L., Power Coombs,M.R. and
            Marcato,P.
  TITLE     ALDH1A3 is the switch that determines the balance of ALDH+ and
            CD24-CD44+ cancer stem cells, EMT-MET, and glucose metabolism in
            breast cancer
  JOURNAL   Oncogene 43 (43), 3151-3169 (2024)
   PUBMED   39251846
  REMARK    GeneRIF: ALDH1A3 is the switch that determines the balance of
            ALDH[+] and CD24[-]CD44[+] cancer stem cells, EMT-MET, and glucose
            metabolism in breast cancer.
REFERENCE   2  (bases 1 to 3469)
  AUTHORS   Chen,Z., Chen,J., Xu,X., Li,Q., Zhang,C., Li,S., Liu,L., Cao,C.,
            Chen,D. and He,Q.
  TITLE     METTL3-mediated ALDH m6A methylation regulates the malignant
            behavior of BMI1+ HNSCC stem cells
  JOURNAL   Oral Dis 30 (3), 1061-1071 (2024)
   PUBMED   37249063
  REMARK    GeneRIF: METTL3-mediated ALDH m[6]A methylation regulates the
            malignant behavior of BMI1[+] HNSCC stem cells.
REFERENCE   3  (bases 1 to 3469)
  AUTHORS   Bharadwaj,A.G., McLean,M.E., Dahn,M.L., Cahill,H.F., Wasson,M.D.,
            Arun,R.P., Walker,O.L., Cruickshank,B.M., Fernando,W.,
            Venkatesh,J., Barnes,P.J., Bethune,G., Knapp,G., Helyer,L.K.,
            Giacomantonio,C.A., Waisman,D.M. and Marcato,P.
  TITLE     ALDH1A3 promotes invasion and metastasis in triple-negative breast
            cancer by regulating the plasminogen activation pathway
  JOURNAL   Mol Oncol 18 (1), 91-112 (2024)
   PUBMED   37753740
  REMARK    GeneRIF: ALDH1A3 promotes invasion and metastasis in
            triple-negative breast cancer by regulating the plasminogen
            activation pathway.
REFERENCE   4  (bases 1 to 3469)
  AUTHORS   Wu,Y., Franzmeier,S., Liesche-Starnecker,F. and Schlegel,J.
  TITLE     Enhanced Sensitivity to ALDH1A3-Dependent Ferroptosis in
            TMZ-Resistant Glioblastoma Cells
  JOURNAL   Cells 12 (21), 2522 (2023)
   PUBMED   37947601
  REMARK    GeneRIF: Enhanced Sensitivity to ALDH1A3-Dependent Ferroptosis in
            TMZ-Resistant Glioblastoma Cells.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3469)
  AUTHORS   Kesim,Y., Ceroni,F., Damian,A., Blanco-Kelly,F., Ayuso,C.,
            Williamson,K., Paquis-Flucklinger,V., Bax,D.A., Plaisancie,J.,
            Rieubland,C., Chamlal,M., Corton,M., Chassaing,N., Calvas,P. and
            Ragge,N.K.
  TITLE     Clinical and genetic analysis further delineates the phenotypic
            spectrum of ALDH1A3-related anophthalmia and microphthalmia
  JOURNAL   Eur J Hum Genet 31 (10), 1175-1180 (2023)
   PUBMED   36997679
  REMARK    GeneRIF: Clinical and genetic analysis further delineates the
            phenotypic spectrum of ALDH1A3-related anophthalmia and
            microphthalmia.
            Erratum:[Eur J Hum Genet. 2023 Oct;31(10):1196-1198. doi:
            10.1038/s41431-023-01363-3.. PMID: 37106145]
REFERENCE   6  (bases 1 to 3469)
  AUTHORS   Everts,H.B., King,L.E. Jr., Sundberg,J.P. and Ong,D.E.
  TITLE     Hair cycle-specific immunolocalization of retinoic acid
            synthesizing enzymes Aldh1a2 and Aldh1a3 indicate complex
            regulation
  JOURNAL   J Invest Dermatol 123 (2), 258-263 (2004)
   PUBMED   15245423
REFERENCE   7  (bases 1 to 3469)
  AUTHORS   Nishimura,M., Yoshitsugu,H., Naito,S. and Hiraoka,I.
  TITLE     Evaluation of gene induction of drug-metabolizing enzymes and
            transporters in primary culture of human hepatocytes using
            high-sensitivity real-time reverse transcription PCR
  JOURNAL   Yakugaku Zasshi 122 (5), 339-361 (2002)
   PUBMED   12040753
REFERENCE   8  (bases 1 to 3469)
  AUTHORS   Rexer,B.N., Zheng,W.L. and Ong,D.E.
  TITLE     Retinoic acid biosynthesis by normal human breast epithelium is via
            aldehyde dehydrogenase 6, absent in MCF-7 cells
  JOURNAL   Cancer Res 61 (19), 7065-7070 (2001)
   PUBMED   11585737
REFERENCE   9  (bases 1 to 3469)
  AUTHORS   Yoshida,A., Rzhetsky,A., Hsu,L.C. and Chang,C.
  TITLE     Human aldehyde dehydrogenase gene family
  JOURNAL   Eur J Biochem 251 (3), 549-557 (1998)
   PUBMED   9490025
  REMARK    Review article
REFERENCE   10 (bases 1 to 3469)
  AUTHORS   Hsu,L.C., Chang,W.C., Hiraoka,L. and Hsieh,C.L.
  TITLE     Molecular cloning, genomic organization, and chromosomal
            localization of an additional human aldehyde dehydrogenase gene,
            ALDH6
  JOURNAL   Genomics 24 (2), 333-341 (1994)
   PUBMED   7698756
  REMARK    GeneRIF: play a major role in the detoxification of aldehydes
            generated by alcohol metabolism and lipid peroxidation.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB480234.1 and BC069274.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000693.3.
            
            Summary: This gene encodes an aldehyde dehydrogenase enzyme that
            uses retinal as a substrate. Mutations in this gene have been
            associated with microphthalmia, isolated 8, and expression changes
            have also been detected in tumor cells. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Jun
            2014].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer 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 :: BC069274.1, SRR1803615.15581.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000329841.10/ ENSP00000332256.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-21                DB480234.1         140-160
            22-3469             BC069274.1         1-3448
FEATURES             Location/Qualifiers
     source          1..3469
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.3"
     gene            1..3469
                     /gene="ALDH1A3"
                     /gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
                     /note="aldehyde dehydrogenase 1 family member A3"
                     /db_xref="GeneID:220"
                     /db_xref="HGNC:HGNC:409"
                     /db_xref="MIM:600463"
     exon            1..176
                     /gene="ALDH1A3"
                     /gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
                     /inference="alignment:Splign:2.1.0"
     CDS             78..1616
                     /gene="ALDH1A3"
                     /gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
                     /EC_number="1.2.1.36"
                     /note="isoform 1 is encoded by transcript variant 1;
                     aldehyde dehydrogenase 6; retinaldehyde dehydrogenase 3;
                     acetaldehyde dehydrogenase 6"
                     /codon_start=1
                     /product="retinaldehyde dehydrogenase 3 isoform 1"
                     /protein_id="NP_000684.2"
                     /db_xref="CCDS:CCDS10389.1"
                     /db_xref="GeneID:220"
                     /db_xref="HGNC:HGNC:409"
                     /db_xref="MIM:600463"
                     /translation="MATANGAVENGQPDRKPPALPRPIRNLEVKFTKIFINNEWHESK
                     SGKKFATCNPSTREQICEVEEGDKPDVDKAVEAAQVAFQRGSPWRRLDALSRGRLLHQ
                     LADLVERDRATLAALETMDTGKPFLHAFFIDLEGCIRTLRYFAGWADKIQGKTIPTDD
                     NVVCFTRHEPIGVCGAITPWNFPLLMLVWKLAPALCCGNTMVLKPAEQTPLTALYLGS
                     LIKEAGFPPGVVNIVPGFGPTVGAAISSHPQINKIAFTGSTEVGKLVKEAASRSNLKR
                     VTLELGGKNPCIVCADADLDLAVECAHQGVFFNQGQCCTAASRVFVEEQVYSEFVRRS
                     VEYAKKRPVGDPFDVKTEQGPQIDQKQFDKILELIESGKKEGAKLECGGSAMEDKGLF
                     IKPTVFSEVTDNMRIAKEEIFGPVQPILKFKSIEEVIKRANSTDYGLTAAVFTKNLDK
                     ALKLASALESGTVWINCYNALYAQAPFGGFKMSGNGRELGEYALAEYTEVKTVTIKLG
                     DKNP"
     exon            177..281
                     /gene="ALDH1A3"
                     /gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
                     /inference="alignment:Splign:2.1.0"
     exon            282..422
                     /gene="ALDH1A3"
                     /gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
                     /inference="alignment:Splign:2.1.0"
     exon            423..552
                     /gene="ALDH1A3"
                     /gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
                     /inference="alignment:Splign:2.1.0"
     exon            553..614
                     /gene="ALDH1A3"
                     /gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
                     /inference="alignment:Splign:2.1.0"
     exon            615..743
                     /gene="ALDH1A3"
                     /gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
                     /inference="alignment:Splign:2.1.0"
     exon            744..857
                     /gene="ALDH1A3"
                     /gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
                     /inference="alignment:Splign:2.1.0"
     exon            858..960
                     /gene="ALDH1A3"
                     /gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
                     /inference="alignment:Splign:2.1.0"
     exon            961..1145
                     /gene="ALDH1A3"
                     /gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
                     /inference="alignment:Splign:2.1.0"
     exon            1146..1310
                     /gene="ALDH1A3"
                     /gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
                     /inference="alignment:Splign:2.1.0"
     exon            1311..1468
                     /gene="ALDH1A3"
                     /gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
                     /inference="alignment:Splign:2.1.0"
     exon            1469..1543
                     /gene="ALDH1A3"
                     /gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
                     /inference="alignment:Splign:2.1.0"
     exon            1544..3469
                     /gene="ALDH1A3"
                     /gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3447..3452
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALDH1A3"
                     /gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
                     /note="hexamer: AATAAA"
     polyA_site      3469
                     /gene="ALDH1A3"
                     /gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
                     /note="major polyA site"
ORIGIN      
        1 agcgggctgc gcagtgtccg ggccgagccg gtgcgccgca gactagggcg cctcgggcca
       61 gggagcgcgg aggagccatg gccaccgcta acggggccgt ggaaaacggg cagccggaca
      121 ggaagccgcc ggccctgccg cgccccatcc gcaacctgga ggtcaagttc accaagatat
      181 ttatcaacaa tgaatggcac gaatccaaga gtgggaaaaa gtttgctaca tgtaaccctt
      241 caactcggga gcaaatatgt gaagtggaag aaggagataa gcccgacgtg gacaaggctg
      301 tggaggctgc acaggttgcc ttccagaggg gctcgccatg gcgccggctg gatgccctga
      361 gtcgtgggcg gctgctgcac cagctggctg acctggtgga gagggaccgc gccaccttgg
      421 ccgccctgga gacgatggat acagggaagc catttcttca tgcttttttc atcgacctgg
      481 agggctgtat tagaaccctc agatactttg cagggtgggc agacaaaatc cagggcaaga
      541 ccatccccac agatgacaac gtcgtgtgct tcaccaggca tgagcccatt ggtgtctgtg
      601 gggccatcac tccatggaac ttccccctgc tgatgctggt gtggaagctg gcacccgccc
      661 tctgctgtgg gaacaccatg gtcctgaagc ctgcggagca gacacctctc accgcccttt
      721 atctcggctc tctgatcaaa gaggccgggt tccctccagg agtggtgaac attgtgccag
      781 gattcgggcc cacagtggga gcagcaattt cttctcaccc tcagatcaac aagatcgcct
      841 tcaccggctc cacagaggtt ggaaaactgg ttaaagaagc tgcgtcccgg agcaatctga
      901 agcgggtgac gctggagctg ggggggaaga acccctgcat cgtgtgtgcg gacgctgact
      961 tggacttggc agtggagtgt gcccatcagg gagtgttctt caaccaaggc cagtgttgca
     1021 cggcagcctc cagggtgttc gtggaggagc aggtctactc tgagtttgtc aggcggagcg
     1081 tggagtatgc caagaaacgg cccgtgggag accccttcga tgtcaaaaca gaacaggggc
     1141 ctcagattga tcaaaagcag ttcgacaaaa tcttagagct gatcgagagt gggaagaagg
     1201 aaggggccaa gctggaatgc gggggctcag ccatggaaga caaggggctc ttcatcaaac
     1261 ccactgtctt ctcagaagtc acagacaaca tgcggattgc caaagaggag attttcgggc
     1321 cagtgcaacc aatactgaag ttcaaaagta tcgaagaagt gataaaaaga gcgaatagca
     1381 ccgactatgg actcacagca gccgtgttca caaaaaatct cgacaaagcc ctgaagttgg
     1441 cttctgcctt agagtctgga acggtctgga tcaactgcta caacgccctc tatgcacagg
     1501 ctccatttgg tggctttaaa atgtcaggaa atggcagaga actaggtgaa tacgctttgg
     1561 ccgaatacac agaagtgaaa actgtcacca tcaaacttgg cgacaagaac ccctgaagga
     1621 aaggcggggc tccttcctca aacatcggac ggcggaatgt ggcagatgaa atgtgctgga
     1681 ggaaaaaaat gacatttctg accttcccgg gacacattct tctggaggct ttacatctac
     1741 tggagttgaa tgattgctgt tttcctctca ctctcctgtt tattcaccag actggggatg
     1801 cctataggtt gtctgtgaaa tcgcagtcct gcctggggag ggagctgttg gccatttctg
     1861 tgtttccctt taaaccagat cctggagaca gtgagatact cagggcgttg ttaacaggga
     1921 gtggtatttg aagtgtccag cagttgcttg aaatgctttg ccgaatctga ctccagtaag
     1981 aatgtgggaa aaccccctgt gtgttctgca agcagggctc ttgcaccagc ggtctcctca
     2041 gggtggacct gcttacagag caagccacgc ctctttccga ggtgaaggtg ggaccattcc
     2101 ttgggaaagg attcacagta aggttttttg gtttttgttt tttgttttct tgtttttaaa
     2161 aaaaggattt cacagtgaga aagttttggt tagtgcatac cgtggaaggg cgccagggtc
     2221 tttgtggatt gcatgttgac attgaccgtg agattcggct tcaaaccaat actgcctttg
     2281 gaatatgaca gaatcaatag cccagagagc ttagtcaaag acgatatcac ggtctacctt
     2341 aaccaaggca ctttcttaag cagaaaatat tgttgaggtt acctttgctg ctaaagatcc
     2401 aatcttctaa cgccacaaca gcatagcaaa tcctaggata attcacctcc tcatttgaca
     2461 aatcagagct gtaattcgct ttaacaaatt acgcatttct atcacgttca ctaacagctt
     2521 atgataagtc tgtgtagtct tccttttctc cagttctgtt acccaattta gattagtaaa
     2581 gcgtacacaa ctggaaagac tgctgtaata acacagcctt gttattttta agtcctattt
     2641 tgatattaat ttctgattag ttagtaaata acacctggat tctatggagg acctcggtct
     2701 tcatccaagt ggcctgagta tttcactggc aggttgtgaa tttttctttt cctctttggg
     2761 gatccaaatg atgatgtgca atttcatgtt ttaacttggg aaactgaaag tgttcccata
     2821 tagcttcaaa aacaaaaaca aatgtgttat ccgacggata cttttatggt tactaactag
     2881 tactttccta attgggaaag tagtgcttaa gtttgcaaat taagttgggg agggcaataa
     2941 taaaatgagg gcccgtaaca gaaccagtgt gtgtataacg aaaaccatgt ataaaatggg
     3001 cctatcaccc ttgtcagaga tataaattac cacatttgcc ttcccttcat cagctaacac
     3061 ttatcactta tactaccaat aacttgttaa atcaggattt ggcttcatac actgaatttt
     3121 cagtatttta tctcaagtag atatagacac taaccttgat agtgatacgt tagagggttc
     3181 ctattcttcc attgtacgat aatgtcttta atatgaaatg ctacattatt tataattggt
     3241 agagttattg tatcttttta tagttgtaag tacacagagg tggtatattt aaacttctgt
     3301 aatatactgt atttagaaat ggaaatatat atagtgttag gtttcacttc ttttaaggtt
     3361 tacccctgtg gtgtggttta aaaatctata ggcctgggaa ttccgatcct agctgcagat
     3421 cgcatcccac aatgcgagaa tgataaaata aaattggata tttgagaaa
//
