LOCUS       NM_000689               2096 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens aldehyde dehydrogenase 1 family member A1 (ALDH1A1),
            mRNA.
ACCESSION   NM_000689
VERSION     NM_000689.5
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 2096)
  AUTHORS   Huang,Y.K., Wang,T.M., Chen,C.Y., Li,C.Y., Wang,S.C., Irshad,K.,
            Pan,Y. and Chang,K.C.
  TITLE     The role of ALDH1A1 in glioblastoma proliferation and invasion
  JOURNAL   Chem Biol Interact 402, 111202 (2024)
   PUBMED   39128802
  REMARK    GeneRIF: The role of ALDH1A1 in glioblastoma proliferation and
            invasion.
REFERENCE   2  (bases 1 to 2096)
  AUTHORS   Lai,W., Zhao,Y., Chen,Y., Dai,Z., Chen,R., Niu,Y., Chen,X.,
            Chen,S., Huang,G., Shan,Z., Zheng,J., Hu,Y., Chen,Q., Gong,S.,
            Kang,S., Guo,H., Ma,X., Song,Y., Xia,K., Wang,J., Zhou,L., So,K.F.,
            Wang,K., Qiu,S., Zhang,L., Chen,J. and Shi,L.
  TITLE     Autism patient-derived SHANK2BY29X mutation affects the development
            of ALDH1A1 negative dopamine neuron
  JOURNAL   Mol Psychiatry 29 (10), 3180-3194 (2024)
   PUBMED   38704506
  REMARK    GeneRIF: Autism patient-derived SHANK2B[Y29X] mutation affects the
            development of ALDH1A1 negative dopamine neuron.
REFERENCE   3  (bases 1 to 2096)
  AUTHORS   Wang,M., Wang,T., Wang,J., Yang,Y., Li,X., Chen,H. and Liao,J.
  TITLE     ALDH1A1 promotes immune escape of tumor cells through
            ZBTB7B-glycolysis pathway
  JOURNAL   Cell Death Dis 15 (8), 568 (2024)
   PUBMED   39107297
  REMARK    GeneRIF: ALDH1A1 promotes immune escape of tumor cells through
            ZBTB7B-glycolysis pathway.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2096)
  AUTHORS   Yaghjyan,L., Heng,Y.J., Baker,G.M., Murthy,D., Mahoney,M.B.,
            Rosner,B. and Tamimi,R.M.
  TITLE     Associations of stem cell markers CD44, CD24 and ALDH1A1 with
            mammographic breast density in women with benign breast biopsies
  JOURNAL   Br J Cancer 131 (2), 325-333 (2024)
   PUBMED   38849477
  REMARK    GeneRIF: Associations of stem cell markers CD44, CD24 and ALDH1A1
            with mammographic breast density in women with benign breast
            biopsies.
REFERENCE   5  (bases 1 to 2096)
  AUTHORS   Mousa,N.A., Hussein,A., Elemam,N.M., Mohammed,G., Elwany,M.,
            Basha,T., AlHammadi,A.A., Majzob,R.S. and Talaat,I.M.
  TITLE     Are embryonic stem cell markers and ALDH1A1 relevant in the context
            of breast cancer estrogen positivity?
  JOURNAL   Cancer Med 13 (3), e7004 (2024)
   PUBMED   38400679
  REMARK    GeneRIF: Are embryonic stem cell markers and ALDH1A1 relevant in
            the context of breast cancer estrogen positivity?
            Erratum:[Cancer Med. 2024 Apr;13(8):e7171. doi: 10.1002/cam4.7171..
            PMID: 38629223]
REFERENCE   6  (bases 1 to 2096)
  AUTHORS   Pereira,F., Rosenmann,E., Nylen,E., Kaufman,M., Pinsky,L. and
            Wrogemann,K.
  TITLE     The 56 kDa androgen binding protein is an aldehyde dehydrogenase
  JOURNAL   Biochem Biophys Res Commun 175 (3), 831-838 (1991)
   PUBMED   1709013
REFERENCE   7  (bases 1 to 2096)
  AUTHORS   Hsu,L.C., Chang,W.C. and Yoshida,A.
  TITLE     Genomic structure of the human cytosolic aldehyde dehydrogenase
            gene
  JOURNAL   Genomics 5 (4), 857-865 (1989)
   PUBMED   2591967
REFERENCE   8  (bases 1 to 2096)
  AUTHORS   Agarwal,D.P., Cohn,P., Goedde,H.W. and Hempel,J.
  TITLE     Aldehyde dehydrogenase from human erythrocytes: structural
            relationship to the liver cytosolic isozyme
  JOURNAL   Enzyme 42 (1), 47-52 (1989)
   PUBMED   2776714
REFERENCE   9  (bases 1 to 2096)
  AUTHORS   Inoue,K., Nishimukai,H. and Yamasawa,K.
  TITLE     Purification and partial characterization of aldehyde dehydrogenase
            from human erythrocytes
  JOURNAL   Biochim Biophys Acta 569 (2), 117-123 (1979)
   PUBMED   224930
REFERENCE   10 (bases 1 to 2096)
  AUTHORS   Harada,S., Agarwal,D.P. and Goedde,H.W.
  TITLE     Isozyme variations in acetaldehyde dehydrogenase (e.c.1.2.1.3) in
            human tissues
  JOURNAL   Hum Genet 44 (2), 181-185 (1978)
   PUBMED   730161
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC398835.1, BC001505.2 and
            AI074764.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000689.4.
            
            Summary: The protein encoded by this gene belongs to the aldehyde
            dehydrogenase family. Aldehyde dehydrogenase is the next enzyme
            after alcohol dehydrogenase in the major pathway of alcohol
            metabolism. There are two major aldehyde dehydrogenase isozymes in
            the liver, cytosolic and mitochondrial, which are encoded by
            distinct genes, and can be distinguished by their electrophoretic
            mobility, kinetic properties, and subcellular localization. This
            gene encodes the cytosolic isozyme. Studies in mice show that
            through its role in retinol metabolism, this gene may also be
            involved in the regulation of the metabolic responses to high-fat
            diet. [provided by RefSeq, Mar 2011].
            
            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 :: FJ224286.1, SRR3476690.103954.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2162895, SAMEA2467144
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000297785.8/ ENSP00000297785.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-275               DC398835.1         284-558
            276-1943            BC001505.2         248-1915
            1944-2096           AI074764.1         19-171              c
FEATURES             Location/Qualifiers
     source          1..2096
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q21.13"
     gene            1..2096
                     /gene="ALDH1A1"
                     /gene_synonym="ALDC; ALDH-E1; ALDH1; ALDH11; HEL-9;
                     HEL-S-53e; HEL12; PUMB1; RALDH1"
                     /note="aldehyde dehydrogenase 1 family member A1"
                     /db_xref="GeneID:216"
                     /db_xref="HGNC:HGNC:402"
                     /db_xref="MIM:100640"
     exon            1..119
                     /gene="ALDH1A1"
                     /gene_synonym="ALDC; ALDH-E1; ALDH1; ALDH11; HEL-9;
                     HEL-S-53e; HEL12; PUMB1; RALDH1"
                     /inference="alignment:Splign:2.1.0"
     CDS             54..1559
                     /gene="ALDH1A1"
                     /gene_synonym="ALDC; ALDH-E1; ALDH1; ALDH11; HEL-9;
                     HEL-S-53e; HEL12; PUMB1; RALDH1"
                     /EC_number="1.2.1.3"
                     /EC_number="1.2.1.19"
                     /EC_number="1.2.1.36"
                     /EC_number="1.2.1.28"
                     /note="retinaldehyde dehydrogenase 1; aldehyde
                     dehydrogenase 1, soluble; aldehyde dehydrogenase, liver
                     cytosolic; ALDH class 1; acetaldehyde dehydrogenase 1;
                     retinal dehydrogenase 1; ALHDII; RALDH 1; epididymis
                     luminal protein 12; epididymis secretory sperm binding
                     protein Li 53e; epididymis luminal protein 9;
                     3-deoxyglucosone dehydrogenase"
                     /codon_start=1
                     /product="aldehyde dehydrogenase 1A1"
                     /protein_id="NP_000680.2"
                     /db_xref="CCDS:CCDS6644.1"
                     /db_xref="GeneID:216"
                     /db_xref="HGNC:HGNC:402"
                     /db_xref="MIM:100640"
                     /translation="MSSSGTPDLPVLLTDLKIQYTKIFINNEWHDSVSGKKFPVFNPA
                     TEEELCQVEEGDKEDVDKAVKAARQAFQIGSPWRTMDASERGRLLYKLADLIERDRLL
                     LATMESMNGGKLYSNAYLNDLAGCIKTLRYCAGWADKIQGRTIPIDGNFFTYTRHEPI
                     GVCGQIIPWNFPLVMLIWKIGPALSCGNTVVVKPAEQTPLTALHVASLIKEAGFPPGV
                     VNIVPGYGPTAGAAISSHMDIDKVAFTGSTEVGKLIKEAAGKSNLKRVTLELGGKSPC
                     IVLADADLDNAVEFAHHGVFYHQGQCCIAASRIFVEESIYDEFVRRSVERAKKYILGN
                     PLTPGVTQGPQIDKEQYDKILDLIESGKKEGAKLECGGGPWGNKGYFVQPTVFSNVTD
                     EMRIAKEEIFGPVQQIMKFKSLDDVIKRANNTFYGLSAGVFTKDIDKAITISSALQAG
                     TVWVNCYGVVSAQCPFGGFKMSGNGRELGEYGFHEYTEVKTVTVKISQKNS"
     exon            120..224
                     /gene="ALDH1A1"
                     /gene_synonym="ALDC; ALDH-E1; ALDH1; ALDH11; HEL-9;
                     HEL-S-53e; HEL12; PUMB1; RALDH1"
                     /inference="alignment:Splign:2.1.0"
     exon            225..365
                     /gene="ALDH1A1"
                     /gene_synonym="ALDC; ALDH-E1; ALDH1; ALDH11; HEL-9;
                     HEL-S-53e; HEL12; PUMB1; RALDH1"
                     /inference="alignment:Splign:2.1.0"
     exon            366..495
                     /gene="ALDH1A1"
                     /gene_synonym="ALDC; ALDH-E1; ALDH1; ALDH11; HEL-9;
                     HEL-S-53e; HEL12; PUMB1; RALDH1"
                     /inference="alignment:Splign:2.1.0"
     exon            496..557
                     /gene="ALDH1A1"
                     /gene_synonym="ALDC; ALDH-E1; ALDH1; ALDH11; HEL-9;
                     HEL-S-53e; HEL12; PUMB1; RALDH1"
                     /inference="alignment:Splign:2.1.0"
     exon            558..686
                     /gene="ALDH1A1"
                     /gene_synonym="ALDC; ALDH-E1; ALDH1; ALDH11; HEL-9;
                     HEL-S-53e; HEL12; PUMB1; RALDH1"
                     /inference="alignment:Splign:2.1.0"
     exon            687..800
                     /gene="ALDH1A1"
                     /gene_synonym="ALDC; ALDH-E1; ALDH1; ALDH11; HEL-9;
                     HEL-S-53e; HEL12; PUMB1; RALDH1"
                     /inference="alignment:Splign:2.1.0"
     exon            801..903
                     /gene="ALDH1A1"
                     /gene_synonym="ALDC; ALDH-E1; ALDH1; ALDH11; HEL-9;
                     HEL-S-53e; HEL12; PUMB1; RALDH1"
                     /inference="alignment:Splign:2.1.0"
     exon            904..1088
                     /gene="ALDH1A1"
                     /gene_synonym="ALDC; ALDH-E1; ALDH1; ALDH11; HEL-9;
                     HEL-S-53e; HEL12; PUMB1; RALDH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1089..1253
                     /gene="ALDH1A1"
                     /gene_synonym="ALDC; ALDH-E1; ALDH1; ALDH11; HEL-9;
                     HEL-S-53e; HEL12; PUMB1; RALDH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1254..1411
                     /gene="ALDH1A1"
                     /gene_synonym="ALDC; ALDH-E1; ALDH1; ALDH11; HEL-9;
                     HEL-S-53e; HEL12; PUMB1; RALDH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1412..1486
                     /gene="ALDH1A1"
                     /gene_synonym="ALDC; ALDH-E1; ALDH1; ALDH11; HEL-9;
                     HEL-S-53e; HEL12; PUMB1; RALDH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1487..2096
                     /gene="ALDH1A1"
                     /gene_synonym="ALDC; ALDH-E1; ALDH1; ALDH11; HEL-9;
                     HEL-S-53e; HEL12; PUMB1; RALDH1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2076..2081
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALDH1A1"
                     /gene_synonym="ALDC; ALDH-E1; ALDH1; ALDH11; HEL-9;
                     HEL-S-53e; HEL12; PUMB1; RALDH1"
                     /note="hexamer: AATAAA"
     polyA_site      2096
                     /gene="ALDH1A1"
                     /gene_synonym="ALDC; ALDH-E1; ALDH1; ALDH11; HEL-9;
                     HEL-S-53e; HEL12; PUMB1; RALDH1"
                     /note="major polyA site"
ORIGIN      
        1 atcagaacca aattgctgag ccagtcacct gtgttccagg agccgaatca gaaatgtcat
       61 cctcaggcac gccagactta cctgtcctac tcaccgattt gaagattcaa tatactaaga
      121 tcttcataaa caatgaatgg catgattcag tgagtggcaa gaaatttcct gtctttaatc
      181 ctgcaactga ggaggagctc tgccaggtag aagaaggaga taaggaggat gttgacaagg
      241 cagtgaaggc cgcaagacag gcttttcaga ttggatcccc gtggcgtact atggatgctt
      301 ccgagagggg gcgactatta tacaagttgg ctgatttaat cgaaagagat cgtctgctgc
      361 tggcgacaat ggagtcaatg aatggtggaa aactctattc caatgcatat ctgaatgatt
      421 tagcaggctg catcaaaaca ttgcgctact gtgcaggttg ggctgacaag atccagggcc
      481 gtacaatacc aattgatgga aattttttta catatacaag acatgaacct attggtgtat
      541 gtggccaaat cattccttgg aatttcccgt tggttatgct catttggaag atagggcctg
      601 cactgagctg tggaaacaca gtggttgtca aaccagcaga gcaaactcct ctcactgctc
      661 tccacgtggc atctttaata aaagaggcag ggtttcctcc tggagtagtg aatattgttc
      721 ctggttatgg gcctacagca ggggcagcca tttcttctca catggatata gacaaagtag
      781 ccttcacagg atcaacagag gttggcaagt tgatcaaaga agctgccggg aaaagcaatc
      841 tgaagagggt gaccctggag cttggaggaa agagcccttg cattgtgtta gctgatgccg
      901 acttggacaa tgctgttgaa tttgcacacc atggggtatt ctaccaccag ggccagtgtt
      961 gtatagccgc atccaggatt tttgtggaag aatcaattta tgatgagttt gttcgaagga
     1021 gtgttgagcg ggctaagaag tatatccttg gaaatcctct gaccccagga gtcactcaag
     1081 gccctcagat tgacaaggaa caatatgata aaatacttga cctcattgag agtgggaaga
     1141 aagaaggggc caaactggaa tgtggaggag gcccgtgggg gaataaaggc tactttgtcc
     1201 agcccacagt gttctctaat gttacagatg agatgcgcat tgccaaagag gagatttttg
     1261 gaccagtgca gcaaatcatg aagtttaaat ctttagatga cgtgatcaaa agagcaaaca
     1321 atactttcta tggcttatca gcaggagtgt ttaccaaaga cattgataaa gccataacaa
     1381 tctcctctgc tctgcaggca ggaacagtgt gggtgaattg ctatggcgtg gtaagtgccc
     1441 agtgcccctt tggtggattc aagatgtctg gaaatggaag agaactggga gagtacggtt
     1501 tccatgaata tacagaggtc aaaacagtca cagtgaaaat ctctcagaag aactcataaa
     1561 gaaaatacaa gagtggagag aagctcttca atagctaagc atctccttac agtcactaat
     1621 atagtagatt ttaaagacaa aatttttctt ttcttgattt ttttaaacat aagctaaatc
     1681 atattagtat taatactacc catagaaaac ttgacatgta gcttcttctg aaagaattat
     1741 ttgccttctg aaatgtgacc cccaagtcct atcctaaata aaaaaagaca aattcggatg
     1801 tatgatctct ctagctttgt catagttatg tgattttcct ttgtagctac ttttgcagga
     1861 taataatttt atagaaaagg aacagttgca tttagcttct ttcccttagt gactcttgaa
     1921 gtacttaaca tacacgttaa ctgcagagta aattgctctg ttcccagtag ttataaagtc
     1981 cttggactgt tttgaaaagt ttcctaggat gtcatgtctg cttgtcaaaa gaaataatcc
     2041 ctgtaatatt tagctgtaaa ctgaatataa agcttaataa aaacaacctt gcatga
//
