LOCUS       NM_000696               2395 bp    mRNA    linear   PRI 13-FEB-2025
DEFINITION  Homo sapiens aldehyde dehydrogenase 9 family member A1 (ALDH9A1),
            transcript variant 1, mRNA.
ACCESSION   NM_000696
VERSION     NM_000696.4
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 2395)
  AUTHORS   Tan,D., Miao,D., Zhao,C., Shi,J., Lv,Q., Lu,F., Ruan,H., Xiong,Z.
            and Zhang,X.
  TITLE     N6-methyladenosine-modified ALDH9A1 modulates lipid accumulation
            and tumor progression in clear cell renal cell carcinoma through
            the NPM1/IQGAP2/AKT signaling pathway
  JOURNAL   Cell Death Dis 15 (7), 520 (2024)
   PUBMED   39039052
  REMARK    GeneRIF: N6-methyladenosine-modified ALDH9A1 modulates lipid
            accumulation and tumor progression in clear cell renal cell
            carcinoma through the NPM1/IQGAP2/AKT signaling pathway.
            Erratum:[Cell Death Dis. 2024 Aug 29;15(8):635. doi:
            10.1038/s41419-024-07019-4.. PMID: 39209846]
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2395)
  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   3  (bases 1 to 2395)
  AUTHORS   Koncitikova,R., Vigouroux,A., Kopecna,M., Sebela,M., Morera,S. and
            Kopecny,D.
  TITLE     Kinetic and structural analysis of human ALDH9A1
  JOURNAL   Biosci Rep 39 (4) (2019)
   PUBMED   30914451
  REMARK    GeneRIF: structural comparison reveals a position and a fold of the
            inter-domain linker of ALDH9A1 never observed in any other ALDH so
            far.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2395)
  AUTHORS   Matsunaga,A., Harita,Y., Shibagaki,Y., Shimizu,N., Shibuya,K.,
            Ono,H., Kato,H., Sekine,T., Sakamoto,N., Igarashi,T. and Hattori,S.
  TITLE     Identification of 4-Trimethylaminobutyraldehyde Dehydrogenase
            (TMABA-DH) as a Candidate Serum Autoantibody Target for Kawasaki
            Disease
  JOURNAL   PLoS One 10 (5), e0128189 (2015)
   PUBMED   26010099
  REMARK    GeneRIF: TMABA-DH colocalized with myosin light chains in cardiac
            myocytes.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2395)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2395)
  AUTHORS   McPherson,J.D., Wasmuth,J.J., Kurys,G. and Pietruszko,R.
  TITLE     Human aldehyde dehydrogenase: chromosomal assignment of the gene
            for the isozyme that metabolizes gamma-aminobutyraldehyde
  JOURNAL   Hum Genet 93 (2), 211-212 (1994)
   PUBMED   8112751
REFERENCE   7  (bases 1 to 2395)
  AUTHORS   Kurys,G., Shah,P.C., Kikonygo,A., Reed,D., Ambroziak,W. and
            Pietruszko,R.
  TITLE     Human aldehyde dehydrogenase. cDNA cloning and primary structure of
            the enzyme that catalyzes dehydrogenation of 4-aminobutyraldehyde
  JOURNAL   Eur J Biochem 218 (2), 311-320 (1993)
   PUBMED   8269919
REFERENCE   8  (bases 1 to 2395)
  AUTHORS   Ambroziak,W. and Pietruszko,R.
  TITLE     Human aldehyde dehydrogenase. Activity with aldehyde metabolites of
            monoamines, diamines, and polyamines
  JOURNAL   J Biol Chem 266 (20), 13011-13018 (1991)
   PUBMED   2071588
REFERENCE   9  (bases 1 to 2395)
  AUTHORS   Ambroziak,W., Kurys,G. and Pietruszko,R.
  TITLE     Aldehyde dehydrogenase (EC 1.2.1.3): comparison of subcellular
            localization of the third isozyme that dehydrogenates
            gamma-aminobutyraldehyde in rat, guinea pig and human liver
  JOURNAL   Comp Biochem Physiol B 100 (2), 321-327 (1991)
   PUBMED   1799975
REFERENCE   10 (bases 1 to 2395)
  AUTHORS   Kurys,G., Ambroziak,W. and Pietruszko,R.
  TITLE     Human aldehyde dehydrogenase. Purification and characterization of
            a third isozyme with low Km for gamma-aminobutyraldehyde
  JOURNAL   J Biol Chem 264 (8), 4715-4721 (1989)
   PUBMED   2925663
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL451074.13.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 9, 2021 this sequence version replaced NM_000696.3.
            
            Summary: This protein belongs to the aldehyde dehydrogenase family
            of proteins. It has a high activity for oxidation of
            gamma-aminobutyraldehyde and other amino aldehydes. The enzyme
            catalyzes the dehydrogenation of gamma-aminobutyraldehyde to
            gamma-aminobutyric acid (GABA). This isozyme is a tetramer of
            identical 54-kD subunits. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) 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 :: U34252.1, BC070030.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000354775.5/ ENSP00000346827.4
            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
            1-185               AL451074.13        51305-51489         c
            186-331             AL451074.13        48179-48324         c
            332-461             AL451074.13        35908-36037         c
            462-596             AL451074.13        35034-35168         c
            597-793             AL451074.13        33414-33610         c
            794-934             AL451074.13        32369-32509         c
            935-1123            AL451074.13        22189-22377         c
            1124-1211           AL451074.13        21853-21940         c
            1212-1353           AL451074.13        20236-20377         c
            1354-1466           AL451074.13        17945-18057         c
            1467-2395           AL451074.13        15143-16071         c
FEATURES             Location/Qualifiers
     source          1..2395
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q24.1"
     gene            1..2395
                     /gene="ALDH9A1"
                     /gene_synonym="ALDH4; ALDH7; ALDH9; E3; TMABA-DH; TMABADH;
                     TMABALDH"
                     /note="aldehyde dehydrogenase 9 family member A1"
                     /db_xref="GeneID:223"
                     /db_xref="HGNC:HGNC:412"
                     /db_xref="MIM:602733"
     exon            1..185
                     /gene="ALDH9A1"
                     /gene_synonym="ALDH4; ALDH7; ALDH9; E3; TMABA-DH; TMABADH;
                     TMABALDH"
                     /inference="alignment:Splign:2.1.0"
     CDS             5..1561
                     /gene="ALDH9A1"
                     /gene_synonym="ALDH4; ALDH7; ALDH9; E3; TMABA-DH; TMABADH;
                     TMABALDH"
                     /EC_number="1.2.1.3"
                     /EC_number="1.2.1.19"
                     /EC_number="1.2.1.47"
                     /EC_number="1.2.1.46"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; gamma-aminobutyraldehyde dehydrogenase;
                     4-trimethylaminobutyraldehyde dehydrogenase; aldehyde
                     dehydrogenase E3 isozyme; aldehyde dehydrogenase (NAD+);
                     R-aminobutyraldehyde dehydrogenase; aldehyde dehydrogenase
                     family 9 member A1; formaldehyde dehydrogenase"
                     /codon_start=1
                     /product="4-trimethylaminobutyraldehyde dehydrogenase
                     isoform 1 precursor"
                     /protein_id="NP_000687.3"
                     /db_xref="CCDS:CCDS1250.2"
                     /db_xref="GeneID:223"
                     /db_xref="HGNC:HGNC:412"
                     /db_xref="MIM:602733"
                     /translation="MFLRAGLAALSPLLRSLRPSPVAAMSTGTFVVSQPLNYRGGARV
                     EPADASGTEKAFEPATGRVIATFTCSGEKEVNLAVQNAKAAFKIWSQKSGMERCRILL
                     EAARIIREREDEIATMECINNGKSIFEARLDIDISWQCLEYYAGLAASMAGEHIQLPG
                     GSFGYTRREPLGVCVGIGAWNYPFQIASWKSAPALACGNAMVFKPSPFTPVSALLLAE
                     IYSEAGVPPGLFNVVQGGAATGQFLCQHPDVAKVSFTGSVPTGMKIMEMSAKGIKPVT
                     LELGGKSPLIIFSDCDMNNAVKGALMANFLTQGQVCCNGTRVFVQKEILDKFTEEVVK
                     QTQRIKIGDPLLEDTRMGPLINRPHLERVLGFVKVAKEQGAKVLCGGDIYVPEDPKLK
                     DGYYMRPCVLTNCRDDMTCVKEEIFGPVMSILSFDTEAEVLERANDTTFGLAAGVFTR
                     DIQRAHRVVAELQAGTCFINNYNVSPVELPFGGYKKSGFGRENGRVTIEYYSQLKTVC
                     VEMGDVESAF"
     exon            186..331
                     /gene="ALDH9A1"
                     /gene_synonym="ALDH4; ALDH7; ALDH9; E3; TMABA-DH; TMABADH;
                     TMABALDH"
                     /inference="alignment:Splign:2.1.0"
     exon            332..461
                     /gene="ALDH9A1"
                     /gene_synonym="ALDH4; ALDH7; ALDH9; E3; TMABA-DH; TMABADH;
                     TMABALDH"
                     /inference="alignment:Splign:2.1.0"
     exon            462..596
                     /gene="ALDH9A1"
                     /gene_synonym="ALDH4; ALDH7; ALDH9; E3; TMABA-DH; TMABADH;
                     TMABALDH"
                     /inference="alignment:Splign:2.1.0"
     exon            597..793
                     /gene="ALDH9A1"
                     /gene_synonym="ALDH4; ALDH7; ALDH9; E3; TMABA-DH; TMABADH;
                     TMABALDH"
                     /inference="alignment:Splign:2.1.0"
     exon            794..934
                     /gene="ALDH9A1"
                     /gene_synonym="ALDH4; ALDH7; ALDH9; E3; TMABA-DH; TMABADH;
                     TMABALDH"
                     /inference="alignment:Splign:2.1.0"
     exon            935..1123
                     /gene="ALDH9A1"
                     /gene_synonym="ALDH4; ALDH7; ALDH9; E3; TMABA-DH; TMABADH;
                     TMABALDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1124..1211
                     /gene="ALDH9A1"
                     /gene_synonym="ALDH4; ALDH7; ALDH9; E3; TMABA-DH; TMABADH;
                     TMABALDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1212..1353
                     /gene="ALDH9A1"
                     /gene_synonym="ALDH4; ALDH7; ALDH9; E3; TMABA-DH; TMABADH;
                     TMABALDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1354..1466
                     /gene="ALDH9A1"
                     /gene_synonym="ALDH4; ALDH7; ALDH9; E3; TMABA-DH; TMABADH;
                     TMABALDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1467..2395
                     /gene="ALDH9A1"
                     /gene_synonym="ALDH4; ALDH7; ALDH9; E3; TMABA-DH; TMABADH;
                     TMABALDH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2373..2378
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALDH9A1"
                     /gene_synonym="ALDH4; ALDH7; ALDH9; E3; TMABA-DH; TMABADH;
                     TMABALDH"
                     /note="hexamer: AATAAA"
     polyA_site      2395
                     /gene="ALDH9A1"
                     /gene_synonym="ALDH4; ALDH7; ALDH9; E3; TMABA-DH; TMABADH;
                     TMABALDH"
                     /note="major polyA site"
ORIGIN      
        1 actcatgttt ctccgagcag gcctggccgc gctctccccg cttcttcgca gtcttcggcc
       61 ctctcctgtc gccgccatga gcactggcac cttcgtcgtg tcgcagccgc tcaattaccg
      121 cggcggggcc cgcgtggagc cggcggacgc ctccggtacc gagaaagctt tcgagccagc
      181 aaccggccga gtgatagcta ctttcacatg ttcaggagaa aaggaagtaa atttggctgt
      241 tcaaaatgca aaggctgctt ttaaaatatg gagtcaaaaa tctggcatgg agcgttgccg
      301 aatccttttg gaggctgcca ggataataag ggaacgggag gatgaaattg ctactatgga
      361 gtgcatcaac aatggcaagt ccatctttga ggcccgcttg gacattgaca tttcctggca
      421 gtgcctggag tattatgcgg gcttggctgc atccatggct ggtgaacaca tccagctccc
      481 aggtggatcg tttggttata ccagaagaga accacttggg gtatgtgtgg gaataggagc
      541 atggaactac ccctttcaga ttgcctcttg gaagtcggct ccagcattag cctgtggtaa
      601 tgccatggtc tttaaacctt ctccctttac acctgtttct gcattgctac tggctgaaat
      661 ctacagtgag gctggtgtac ctcctgggct cttcaatgtg gtgcagggag gggctgccac
      721 aggccagttt ctgtgtcagc atcccgatgt ggccaaagtc tccttcactg gaagtgtgcc
      781 cactggcatg aagatcatgg agatgtcagc taaaggaatc aaacctgtta ccttggaact
      841 tggaggcaaa tctccactca tcatcttctc agactgtgat atgaacaatg ctgtaaaggg
      901 ggcgctgatg gccaacttcc tcacacaagg ccaggtttgc tgtaatggca caagagtatt
      961 tgtgcagaaa gaaattcttg ataaatttac agaggaagtg gtgaaacaga cccaaaggat
     1021 taaaattgga gatccccttc tggaagatac aaggatgggt ccactcatca accgaccaca
     1081 cctggagcga gtccttgggt ttgtcaaagt ggcaaaggag cagggtgcta aagtgttatg
     1141 tggtggagat atatatgtac ctgaagatcc caaattaaag gatggatatt acatgagacc
     1201 ttgtgtatta actaattgca gagacgacat gacctgtgtg aaggaagaga tctttgggcc
     1261 tgttatgtcc attttatcat ttgacactga agctgaggtt ctagaaagag ccaatgatac
     1321 cacttttgga ctagcagctg gcgtctttac cagggacatc caacgggctc atagagtggt
     1381 agctgagctt caggctggga cgtgcttcat taacaactat aacgtcagcc cagtggagtt
     1441 gccctttggt ggatataaga agtcaggatt tggcagagag aacggccgtg tgacaatcga
     1501 atattattca cagctgaaga ctgtgtgtgt ggagatgggt gatgtggaat ctgctttttg
     1561 aaaacctgca gtgaaaccta ttgacatggc cacgctgtgg aatgatgtga attggccctg
     1621 tttacagagg cagtacaact gaatgttatt ttacatccag aattttggcg ttcagtataa
     1681 gagaatggtt catgttactc tttctctctc catcagcttc ctcactgaaa atgtgcatta
     1741 agtgccttgt agatactaat caagaaagct gtgattctcc tcaaagcgta tttttgtgaa
     1801 atcttttaag agccagtaac atacttctag agaacaggaa aagagactag gataatacat
     1861 cttccacaca tttggcccac tgataatgtt aattctctgg cgtatttcaa agaacttgtt
     1921 cctggctgat ccaagtgcag tggtatttac aactaattga tcacaaccag tttgtagatt
     1981 tctttgttcc ttctccattc ccactgcttc acttgcctag tcttgaagaa aaaaaacaaa
     2041 aaacaaaaaa aaaccttgtt cctttatagg ttcctggtag aatcagtaga gatgatttca
     2101 gctcattgac atttttttaa gctatatccc cttgtcattc cattgagaaa gctgacaact
     2161 gggataggga ggggattaga taatagatgg ggtcaaattc tgtgtgaatg tgaacttgcc
     2221 tagtaagcac tttgtctctg ttcactactg cgatagagga aatctatctc cctatcttgg
     2281 gtccttgaac tacagcctgc tgtcttacac cagtggagct accctttaaa tgtacaaatt
     2341 atttgtatgc taatgtaata tggtgaaatt aaaataaatc acactgttaa ttgtt
//
