LOCUS       NM_005589               5462 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens aldehyde dehydrogenase 6 family member A1 (ALDH6A1),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_005589 XR_110223 XR_111458 XR_114763
VERSION     NM_005589.4
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 5462)
  AUTHORS   Li,X., Wang,N., Wu,Y., Liu,Y. and Wang,R.
  TITLE     ALDH6A1 weakens the progression of colon cancer via modulating the
            RAS/RAF/MEK/ERK pathway in cancer cell lines
  JOURNAL   Gene 842, 146757 (2022)
   PUBMED   35907565
  REMARK    GeneRIF: ALDH6A1 weakens the progression of colon cancer via
            modulating the RAS/RAF/MEK/ERK pathway in cancer cell lines.
REFERENCE   2  (bases 1 to 5462)
  AUTHORS   Cai,Y., Zeng,R., Peng,J., Liu,W., He,Q., Xu,Z. and Bai,N.
  TITLE     The downregulated drug-metabolism related ALDH6A1 serves as
            predictor for prognosis and therapeutic immune response in gastric
            cancer
  JOURNAL   Aging (Albany NY) 14 (17), 7038-7051 (2022)
   PUBMED   36098688
  REMARK    GeneRIF: The downregulated drug-metabolism related ALDH6A1 serves
            as predictor for prognosis and therapeutic immune response in
            gastric cancer.
REFERENCE   3  (bases 1 to 5462)
  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   4  (bases 1 to 5462)
  AUTHORS   Guo,X., Sun,Z., Jiang,S., Jin,X. and Wang,H.
  TITLE     Identification and validation of a two-gene metabolic signature for
            survival prediction in patients with kidney renal clear cell
            carcinoma
  JOURNAL   Aging (Albany NY) 13 (6), 8276-8289 (2021)
   PUBMED   33686951
  REMARK    GeneRIF: Identification and validation of a two-gene metabolic
            signature for survival prediction in patients with kidney renal
            clear cell carcinoma.
REFERENCE   5  (bases 1 to 5462)
  AUTHORS   Shin,H., Cha,H.J., Lee,M.J., Na,K., Park,D., Kim,C.Y., Han,D.H.,
            Kim,H. and Paik,Y.K.
  TITLE     Identification of ALDH6A1 as a Potential Molecular Signature in
            Hepatocellular Carcinoma via Quantitative Profiling of the
            Mitochondrial Proteome
  JOURNAL   J Proteome Res 19 (4), 1684-1695 (2020)
   PUBMED   31985234
  REMARK    GeneRIF: Identification of ALDH6A1 as a Potential Molecular
            Signature in Hepatocellular Carcinoma via Quantitative Profiling of
            the Mitochondrial Proteome.
REFERENCE   6  (bases 1 to 5462)
  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   7  (bases 1 to 5462)
  AUTHORS   Kuiper,H., Spotter,A., Williams,J.L., Distl,O. and Drogemuller,C.
  TITLE     Physical mapping of CHX10, ALDH6A1, and ABCD4 on bovine chromosome
            10q34
  JOURNAL   Cytogenet Genome Res 109 (4), 533 (2005)
   PUBMED   15909363
REFERENCE   8  (bases 1 to 5462)
  AUTHORS   Anderson,N.L., Polanski,M., Pieper,R., Gatlin,T., Tirumalai,R.S.,
            Conrads,T.P., Veenstra,T.D., Adkins,J.N., Pounds,J.G., Fagan,R. and
            Lobley,A.
  TITLE     The human plasma proteome: a nonredundant list developed by
            combination of four separate sources
  JOURNAL   Mol Cell Proteomics 3 (4), 311-326 (2004)
   PUBMED   14718574
REFERENCE   9  (bases 1 to 5462)
  AUTHORS   Chambliss,K.L., Gray,R.G., Rylance,G., Pollitt,R.J. and Gibson,K.M.
  TITLE     Molecular characterization of methylmalonate semialdehyde
            dehydrogenase deficiency
  JOURNAL   J Inherit Metab Dis 23 (5), 497-504 (2000)
   PUBMED   10947204
REFERENCE   10 (bases 1 to 5462)
  AUTHORS   Kedishvili,N.Y., Popov,K.M., Rougraff,P.M., Zhao,Y., Crabb,D.W. and
            Harris,R.A.
  TITLE     CoA-dependent methylmalonate-semialdehyde dehydrogenase, a unique
            member of the aldehyde dehydrogenase superfamily. cDNA cloning,
            evolutionary relationships, and tissue distribution
  JOURNAL   J Biol Chem 267 (27), 19724-19729 (1992)
   PUBMED   1527093
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC032371.1, AC005484.2 and
            AI244036.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_005589.3.
            
            Summary: This gene encodes a member of the aldehyde dehydrogenase
            protein family. The encoded protein is a mitochondrial
            methylmalonate semialdehyde dehydrogenase that plays a role in the
            valine and pyrimidine catabolic pathways. This protein catalyzes
            the irreversible oxidative decarboxylation of malonate and
            methylmalonate semialdehydes to acetyl- and propionyl-CoA.
            Methylmalonate semialdehyde dehydrogenase deficiency is
            characterized by elevated beta-alanine, 3-hydroxypropionic acid,
            and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine
            organic acids. Alternate splicing results in multiple transcript
            variants. [provided by RefSeq, Jun 2013].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR1660807.84952.1,
                                           SRR1660805.21824.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000553458.6/
                                                  ENSP00000450436.1
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1808              BC032371.1         41-1848
            1809-4451           AC005484.2         80590-83232
            4452-4647           AI244036.1         15-210              c
            4648-5462           AC005484.2         83429-84243
FEATURES             Location/Qualifiers
     source          1..5462
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     gene            1..5462
                     /gene="ALDH6A1"
                     /gene_synonym="MMSADHA; MMSDH"
                     /note="aldehyde dehydrogenase 6 family member A1"
                     /db_xref="GeneID:4329"
                     /db_xref="HGNC:HGNC:7179"
                     /db_xref="MIM:603178"
     exon            1..107
                     /gene="ALDH6A1"
                     /gene_synonym="MMSADHA; MMSDH"
                     /inference="alignment:Splign:2.1.0"
     CDS             60..1667
                     /gene="ALDH6A1"
                     /gene_synonym="MMSADHA; MMSDH"
                     /EC_number="1.2.1.27"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; mitochondrial acylating
                     methylmalonate-semialdehyde dehydrogenase;
                     methylmalonate-semialdehyde dehydrogenase [acylating],
                     mitochondrial; testicular tissue protein Li 122;
                     malonate-semialdehyde dehydrogenase (acetylating);
                     methylmalonate-semialdehyde/malonate-semialdehyde
                     dehydrogenase [acylating], mitochondrial"
                     /codon_start=1
                     /product="methylmalonate-semialdehyde/malonate-
                     semialdehyde dehydrogenase [acylating], mitochondrial
                     isoform 1 precursor"
                     /protein_id="NP_005580.1"
                     /db_xref="CCDS:CCDS9826.1"
                     /db_xref="GeneID:4329"
                     /db_xref="HGNC:HGNC:7179"
                     /db_xref="MIM:603178"
                     /translation="MAALLAAAAVRARILQVSSKVKSSPTWYSASSFSSSVPTVKLFI
                     GGKFVESKSDKWIDIHNPATNEVIGRVPQATKAEMDAAIASCKRAFPAWADTSVLSRQ
                     QVLLRYQQLIKENLKEIAKLITLEQGKTLADAEGDVFRGLQVVEHACSVTSLMMGETM
                     PSITKDMDLYSYRLPLGVCAGIAPFNFPAMIPLWMFPMAMVCGNTFLMKPSERVPGAT
                     MLLAKLLQDSGAPDGTLNIIHGQHEAVNFICDHPDIKAISFVGSNKAGEYIFERGSRH
                     GKRVQANMGAKNHGVVMPDANKENTLNQLVGAAFGAAGQRCMALSTAVLVGEAKKWLP
                     ELVEHAKNLRVNAGDQPGADLGPLITPQAKERVCNLIDSGTKEGASILLDGRKIKVKG
                     YENGNFVGPTIISNVKPNMTCYKEEIFGPVLVVLETETLDEAIQIVNNNPYGNGTAIF
                     TTNGATARKYAHLVDVGQVGVNVPIPVPLPMFSFTGSRSSFRGDTNFYGKQGIQFYTQ
                     LKTITSQWKEEDATLSSPAVVMPTMGR"
     exon            108..170
                     /gene="ALDH6A1"
                     /gene_synonym="MMSADHA; MMSDH"
                     /inference="alignment:Splign:2.1.0"
     exon            171..245
                     /gene="ALDH6A1"
                     /gene_synonym="MMSADHA; MMSDH"
                     /inference="alignment:Splign:2.1.0"
     exon            246..407
                     /gene="ALDH6A1"
                     /gene_synonym="MMSADHA; MMSDH"
                     /inference="alignment:Splign:2.1.0"
     exon            408..486
                     /gene="ALDH6A1"
                     /gene_synonym="MMSADHA; MMSDH"
                     /inference="alignment:Splign:2.1.0"
     exon            487..789
                     /gene="ALDH6A1"
                     /gene_synonym="MMSADHA; MMSDH"
                     /inference="alignment:Splign:2.1.0"
     exon            790..911
                     /gene="ALDH6A1"
                     /gene_synonym="MMSADHA; MMSDH"
                     /inference="alignment:Splign:2.1.0"
     exon            912..1101
                     /gene="ALDH6A1"
                     /gene_synonym="MMSADHA; MMSDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1102..1283
                     /gene="ALDH6A1"
                     /gene_synonym="MMSADHA; MMSDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1284..1463
                     /gene="ALDH6A1"
                     /gene_synonym="MMSADHA; MMSDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1464..1562
                     /gene="ALDH6A1"
                     /gene_synonym="MMSADHA; MMSDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1563..5462
                     /gene="ALDH6A1"
                     /gene_synonym="MMSADHA; MMSDH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4624..4629
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALDH6A1"
                     /gene_synonym="MMSADHA; MMSDH"
                     /note="hexamer: ATTAAA"
     polyA_site      4647
                     /gene="ALDH6A1"
                     /gene_synonym="MMSADHA; MMSDH"
                     /note="major polyA site"
     regulatory      5016..5021
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALDH6A1"
                     /gene_synonym="MMSADHA; MMSDH"
                     /note="hexamer: AATATA"
     polyA_site      5036
                     /gene="ALDH6A1"
                     /gene_synonym="MMSADHA; MMSDH"
ORIGIN      
        1 agctgtagtg cttctgggca gtagaggcgc ggggtgcgga gctagggcgg ccgagagcca
       61 tggcggcgct attggcggcg gcggcagtgc gagcccggat cctgcaggtt tcttccaagg
      121 tgaaatccag tcccacctgg tattcagcat cttccttctc ttcttcagtg ccaactgtaa
      181 agctcttcat tggtgggaaa ttcgttgaat ccaaaagtga caaatggatc gatatccaca
      241 acccagccac caatgaggtc attggtcggg tccctcaggc caccaaggca gaaatggatg
      301 cagccattgc ttcctgcaaa cgtgcttttc ctgcatgggc agacacttca gtattaagcc
      361 gccagcaggt cttgctccgc tatcaacaac ttattaaaga aaacttgaaa gaaattgcca
      421 agttaatcac attggaacaa gggaagaccc tagctgatgc tgaaggagat gtatttcgag
      481 gccttcaggt ggttgagcat gcctgtagtg tgacatccct catgatggga gagaccatgc
      541 catccatcac caaagacatg gacctttatt cctaccgtct gcctctggga gtgtgtgcag
      601 gcattgctcc attcaatttt cctgccatga tccccctttg gatgtttccc atggccatgg
      661 tgtgtggaaa taccttccta atgaaaccat ctgagcgagt ccctggagca actatgcttc
      721 ttgctaagtt gctccaggat tctggtgccc ctgatggaac attaaacatc atccatggac
      781 agcatgaagc tgtaaatttt atttgcgatc atccggacat caaagcaatc agctttgtgg
      841 gatccaacaa ggcaggagag tatatcttcg agagaggatc aagacatggc aagagggttc
      901 aagccaatat gggagccaag aaccatgggg tagtcatgcc agatgccaat aaggaaaata
      961 ccctgaacca gctggttggg gcagcatttg gagctgctgg tcagcgctgc atggctcttt
     1021 caacagcagt ccttgtggga gaagccaaga agtggctgcc agagctggtg gagcatgcca
     1081 aaaacctgag agtcaatgca ggagatcagc ctggagctga tcttggccct ctgatcactc
     1141 cccaggccaa agagcgagtc tgtaatctga ttgatagtgg aacaaaggag ggagcttcca
     1201 tccttcttga tggacgaaaa attaaagtga aaggctatga aaatggcaac tttgttggac
     1261 caaccatcat ctcgaatgtc aagccaaata tgacctgtta caaagaggag atttttggtc
     1321 cagttcttgt ggttctggag acagaaacat tggatgaagc catccagatt gtaaataaca
     1381 acccatatgg aaatggaact gccatcttca ccaccaatgg agccactgct cggaaatatg
     1441 cccacttggt ggatgttgga caggtgggag tgaatgtccc cattccagtg cctttgccaa
     1501 tgttctcatt caccggctct cgatcctcct tcaggggaga caccaatttc tatggcaaac
     1561 agggcatcca attctacact cagttaaaga ccattacttc tcagtggaaa gaagaagatg
     1621 ctactctttc ctcacctgct gttgtcatgc ctaccatggg ccgttagaaa caagtttgtt
     1681 taagactgac tccatcctga gtaatctccc tttatttttg accagcttca tttgtcagct
     1741 ttgctcagat cagatcgatg ggattggaat acattgtaac taaaatcttc ctcaggacta
     1801 ttaacccccg caaagtttct atagggaact gcctagtgta acaatgaaac cagatttctc
     1861 acttgctctt catacttcta ttttgaggta actgttgtaa ctatgaaatg cttatctgaa
     1921 agtagtgctt aaacctgatt tctaaaaatt atcccatttt ctgatgattt gaaggggaga
     1981 aaagccagtg tatgtaaaga aaatgttcca gccaggcgcg gtggctcacg cctgtaattc
     2041 catcattttg ggaggccaca gtgggcagat tgcttgagcc caggagttga agaacgtggc
     2101 gaaaccccgt atctattatt taaaaaaatt gaaaaagtaa aaaaagaaaa gggaaaaaaa
     2161 attttttaaa gaagatgttc caataattgc aagaagaact cttagatggg gaaacaggac
     2221 agaaataact caccgctttt ggttgatcct caaacatagc gctacctaaa tgccactggg
     2281 agagacctcc tgcaaagttt tctttagccc ctcttttatc ccacaataca caagatataa
     2341 tccattttta tatatcccaa agttgtggca acagcttctt tcttttctgc tcaatgccac
     2401 tttgtttcct agtaattcat gaccactatt aattctatca ttgtcactgc tcctgcttaa
     2461 gatcacttct caaggatacc tcagtaagca atggataaat caactttttg ttatatgtgc
     2521 caagtactaa gtttcagggt tctcttcagc aatcattaat taatacttca gccattaatt
     2581 cagatgcaaa taattttctt ttttcttttt tttgagatgg agtttcactc ttgttgccca
     2641 ggctggagtg caatggcgtg atctcagctc accgcaacct ccgcctccca ggttcaagcg
     2701 attctcctgc ctcagccccc ctagtagctg ggattacagg catgcgccac cacacccagc
     2761 taattttgta tttttagtag agacggggtt tctccgtgtt ggtcaggctg gtctcgaact
     2821 cctgacctca ggtgatccgc ctgcctcggc ctcccaaagt gctgggatta caggcatgag
     2881 ccaccacacc cagccagatg caaataattt tcttagaaaa ttatttcaaa agttatttta
     2941 ggcccagaaa tcaaggattg ttccaaccat gaaaatgggt aagacacctg ccttaagcaa
     3001 atctaacctg ctattacttg ccaaatttta tatattcttt tctcttgcct gtatttctaa
     3061 ttagtgattt gtttaatgaa gaactcttca tgtagagcaa ttaactgggc ctaagaaatt
     3121 tcgaagcttt ccatgacata aagtggttaa aaaaaaatgc tttgacagtc ttcttctgcc
     3181 attagttcaa ctgcctttac gctttttttt tttttttttt ttttgagatg gagtttcact
     3241 cttgttgccc aggctagagt gcaatggcgt gatcttggct cactgcaacc tctgcctccc
     3301 gggttcaagc aattctcctg cctcagcctc ctgagtagct gggatttcag gcatacgcca
     3361 ccatgcctgg ctaattttgt atttttagta gagacagggt ttctccatgt tggtcaggct
     3421 ggtctcgaac tcccgacctc aggtgatctg cctgccttgg cctcccaaag tgctgggatt
     3481 acaggtgtga gccaccaccc ccagccgcct ctatgctttt tgtttctttg atatatctaa
     3541 acttaaggtc agaacagaaa ttcatgtgct gaacagaatg gattcttttt gcagtaccaa
     3601 tccaattgaa tcctcttttt attttcctgc gtccttacca gtcactttga tagtgctaac
     3661 taacctacac tatgggggtt attcatgaat taagtatgat aaaaaaaaaa aagaccttga
     3721 aaatgttgtg taccctgtgg atttgaggct tattactacc acctggctgg ataaaatgtc
     3781 aaaaccttca atcacttaag gtgactggaa cttttgtaaa atacacttat gatcctactg
     3841 ggcctttttt tttttttttt ctgctttcct aaatatgagg caatagaaat ttataatttg
     3901 agactacagt accccttgtt ttagctctta tcacagctgg caactggtag tgattttttt
     3961 tgttgttgtt ttgttttgtt ttgagatgga gtctcgctct gttgcccagg gtggagtgca
     4021 gtggcacgat ctcggctcac tgcaacctcc acctcctggg ttcaagtaat tctcctgcct
     4081 cagtctcccg agtagctggg attacaggtg catgccccca cacccggata attttttgta
     4141 cttttagtag agacagggtt tcaccatgtt agccaggatg gtctcaatct cctgacctaa
     4201 tgatccgccc acctcggcct cccaaagtgc tgggattaca ggcgtgaacc accgcacctg
     4261 gccctggtag tgatatttaa tccaatccaa caactatagg ctgggttaaa taaaaggtca
     4321 ttattgtcta tattccaagt ggaattaaat gtagtcacag agattcctaa cattttcctt
     4381 atatttaagg gaaatcactt ctaaaaaaac acactaatca gaactgtgat gctctaatta
     4441 gaaacaactc atctggccaa ctatttgctg ctcagagttt cttatttctt agatgaaaaa
     4501 aactcatcag ttatattcat gtgatcgcgg ctaaaaagtc agtattttct ttttgttcta
     4561 atgtggcttc atttgaaatt tctcagattc tacattgtac taattatgaa taacaaatta
     4621 taaattaaaa actcttaaag agaaaaactt ggcttaaaaa aatcatttca tatctcctta
     4681 taagcctttg tcctctaggt tgtaatgact ctgacttccc acctgtgatg gaaagctaag
     4741 agtcacaagg tcactatgtt tactcttacg taaaagatag tacacatttt ggctaggctg
     4801 tttacttcaa aaggcaacct ataggtttct acacaaaaag aggcacacat ttgcatttgc
     4861 attagtataa tatgcatttg tacggatatt gctttaaaaa tttatgtaat ctactaatgc
     4921 tatttattac tcattccact gatccctgaa gtctctcaac tagtagagaa aataaccgtg
     4981 atttagcaag aagcgacatg gggaagggtg acaacaatat acattgtttg attagataca
     5041 gactccttac tgtgtcagac tcctgaggtt cttttggaat agtgggtagc accacttcac
     5101 cagaagagtc tgatattgca atttgctggg tgatgaagat tttatcttga agcttacttt
     5161 catccctgca ataatgacaa aataacagaa ccgtcaacaa ctctacacac atgaaacctg
     5221 gtttagaata acagacttgt catattactt tcaattagca cattcaagat gcccacaaga
     5281 accatcgtgt tgggctcatg tttattactt aagcaagaga gctcttaccc aaattccttt
     5341 gtttccccac tgtcagaaac aacatagtct ggaactggag gcctagaact ctggttgtat
     5401 ttcctgtagt gggtaaaagt caacaaagat aatgaatgag gcagtgtctc ctcatgcctt
     5461 ca
//
