LOCUS       NM_134042               3420 bp    mRNA    linear   ROD 24-DEC-2024
DEFINITION  Mus musculus aldehyde dehydrogenase family 6, subfamily A1
            (Aldh6a1), transcript variant 1, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_134042
VERSION     NM_134042.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 3420)
  AUTHORS   Bedogni,F. and Hevner,R.F.
  TITLE     Cell-Type-Specific Gene Expression in Developing Mouse Neocortex:
            Intermediate Progenitors Implicated in Axon Development
  JOURNAL   Front Mol Neurosci 14, 686034 (2021)
   PUBMED   34321999
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3420)
  AUTHORS   Zhang,Y.K., Saupe,K.W. and Klaassen,C.D.
  TITLE     Energy restriction does not compensate for the reduced expression
            of hepatic drug-processing genes in mice with aging
  JOURNAL   Drug Metab Dispos 38 (7), 1122-1131 (2010)
   PUBMED   20382754
REFERENCE   3  (bases 1 to 3420)
  AUTHORS   Levi,B.P., Yilmaz,O.H., Duester,G. and Morrison,S.J.
  TITLE     Aldehyde dehydrogenase 1a1 is dispensable for stem cell function in
            the mouse hematopoietic and nervous systems
  JOURNAL   Blood 113 (8), 1670-1680 (2009)
   PUBMED   18971422
REFERENCE   4  (bases 1 to 3420)
  AUTHORS   Wu,Y. and Smas,C.M.
  TITLE     Wdnm1-like, a new adipokine with a role in MMP-2 activation
  JOURNAL   Am J Physiol Endocrinol Metab 295 (1), E205-E215 (2008)
   PUBMED   18492766
REFERENCE   5  (bases 1 to 3420)
  AUTHORS   Mootha,V.K., Bunkenborg,J., Olsen,J.V., Hjerrild,M.,
            Wisniewski,J.R., Stahl,E., Bolouri,M.S., Ray,H.N., Sihag,S.,
            Kamal,M., Patterson,N., Lander,E.S. and Mann,M.
  TITLE     Integrated analysis of protein composition, tissue diversity, and
            gene regulation in mouse mitochondria
  JOURNAL   Cell 115 (5), 629-640 (2003)
   PUBMED   14651853
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BB849555.1, AK147146.1 and
            BQ176083.1.
            
            On Sep 17, 2015 this sequence version replaced NM_134042.2.
            
            Summary: This gene encodes a member of the aldehyde dehydrogenase
            protein family. The encoded enzyme is a mitochondrial
            methylmalonate semialdehyde dehydrogenase that plays a role in the
            valine and pyrimidine catabolic pathways. This enzyme catalyzes the
            irreversible oxidative decarboxylation of malonate and
            methylmalonate semialdehydes to acetyl- and propionyl-CoA.
            Mutations in the human gene result in Methylmalonate Semialdehyde
            Dehydrogenase Deficiency, 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 encoding different
            isoforms. [provided by RefSeq, Sep 2015].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF297860.1, BC033440.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            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
            1-21                BB849555.1         2-22
            22-3233             AK147146.1         2-3213
            3234-3420           BQ176083.1         13-199              c
FEATURES             Location/Qualifiers
     source          1..3420
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="12"
                     /map="12 39.21 cM"
     gene            1..3420
                     /gene="Aldh6a1"
                     /gene_synonym="1110038I05Rik; Mmsdh"
                     /note="aldehyde dehydrogenase family 6, subfamily A1"
                     /db_xref="GeneID:104776"
                     /db_xref="MGI:MGI:1915077"
     exon            1..136
                     /gene="Aldh6a1"
                     /gene_synonym="1110038I05Rik; Mmsdh"
                     /inference="alignment:Splign:2.1.0"
     CDS             86..1693
                     /gene="Aldh6a1"
                     /gene_synonym="1110038I05Rik; Mmsdh"
                     /EC_number="1.2.1.27"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; methylmalonate-semialdehyde dehydrogenase
                     [acylating], mitochondrial; aldehyde dehydrogenase family
                     6 member A1; malonate-semialdehyde dehydrogenase;
                     methylmalonate-semialdehyde/malonate-semialdehyde
                     dehydrogenase [acylating], mitochondrial"
                     /codon_start=1
                     /product="methylmalonate-semialdehyde/malonate-
                     semialdehyde dehydrogenase [acylating], mitochondrial
                     isoform 1 precursor"
                     /protein_id="NP_598803.1"
                     /db_xref="CCDS:CCDS26046.1"
                     /db_xref="GeneID:104776"
                     /db_xref="MGI:MGI:1915077"
                     /translation="MAAAVAAAAAMRSRILQVSSKVNATWYPASSFSSSSVPTVKLFI
                     DGKFVESKSDKWIDIHNPATNEVVGRVPQSTKAEMDAAVESCKRAFPAWADTSILSRQ
                     QVLLRYQQLIKENLKEIARLITLEQGKTLADAEGDVFRGLQVVEHACSVTSLMLGETM
                     PSITKDMDLYSYRLPLGVCAGIAPFNFPAMIPLWMFPMAMVCGNTFLMKPSERVPGAT
                     MLLAKLLQDSGAPDGTLNIIHGQHDAVNFICDHPDIKAISFVGSNQAGEYIFERGSRN
                     GKRVQANMGAKNHGVVMPDANKENTLNQLVGAAFGAAGQRCMALSTAILVGEAKKWLP
                     ELVDRAKNLRVNAGDQPGADLGPLITPQAKERVCNLIDSGTKEGASILLDGRRIKVKG
                     YENGNFVGPTIISNVKPSMTCYKEEIFGPVLVVLETETLDEAIKIVNDNPYGNGTAIF
                     TTNGATARKYAHMVDVGQVGVNVPIPVPLPMFSFTGSRSSFRGDTNFYGKQGIQFYTQ
                     LKTITSQWKEEDATLSSPAVVMPTMGR"
     exon            137..196
                     /gene="Aldh6a1"
                     /gene_synonym="1110038I05Rik; Mmsdh"
                     /inference="alignment:Splign:2.1.0"
     exon            197..271
                     /gene="Aldh6a1"
                     /gene_synonym="1110038I05Rik; Mmsdh"
                     /inference="alignment:Splign:2.1.0"
     exon            272..433
                     /gene="Aldh6a1"
                     /gene_synonym="1110038I05Rik; Mmsdh"
                     /inference="alignment:Splign:2.1.0"
     exon            434..512
                     /gene="Aldh6a1"
                     /gene_synonym="1110038I05Rik; Mmsdh"
                     /inference="alignment:Splign:2.1.0"
     exon            513..815
                     /gene="Aldh6a1"
                     /gene_synonym="1110038I05Rik; Mmsdh"
                     /inference="alignment:Splign:2.1.0"
     exon            816..937
                     /gene="Aldh6a1"
                     /gene_synonym="1110038I05Rik; Mmsdh"
                     /inference="alignment:Splign:2.1.0"
     exon            938..1127
                     /gene="Aldh6a1"
                     /gene_synonym="1110038I05Rik; Mmsdh"
                     /inference="alignment:Splign:2.1.0"
     exon            1128..1309
                     /gene="Aldh6a1"
                     /gene_synonym="1110038I05Rik; Mmsdh"
                     /inference="alignment:Splign:2.1.0"
     exon            1310..1489
                     /gene="Aldh6a1"
                     /gene_synonym="1110038I05Rik; Mmsdh"
                     /inference="alignment:Splign:2.1.0"
     exon            1490..1588
                     /gene="Aldh6a1"
                     /gene_synonym="1110038I05Rik; Mmsdh"
                     /inference="alignment:Splign:2.1.0"
     exon            1589..3420
                     /gene="Aldh6a1"
                     /gene_synonym="1110038I05Rik; Mmsdh"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3383..3388
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Aldh6a1"
                     /gene_synonym="1110038I05Rik; Mmsdh"
                     /note="hexamer: AATAAA"
     regulatory      3403..3408
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Aldh6a1"
                     /gene_synonym="1110038I05Rik; Mmsdh"
                     /note="hexamer: AATACA"
     polyA_site      3408
                     /gene="Aldh6a1"
                     /gene_synonym="1110038I05Rik; Mmsdh"
     polyA_site      3420
                     /gene="Aldh6a1"
                     /gene_synonym="1110038I05Rik; Mmsdh"
                     /note="major polyA site"
ORIGIN      
        1 gtgttctggg cgtggcttaa cggtgttgct tcaagggagg cactggcagc cgagacgcag
       61 gcgagctggg cagagtcggt gagccatggc ggcggcagtg gcggcagcgg cagcaatgcg
      121 gtcccggatc ctgcaggttt cttctaaggt aaatgccaca tggtatccag catcctcctt
      181 ctcttcctca tcagtgccaa ctgtaaagct cttcattgat ggaaaatttg ttgaatcaaa
      241 aagtgataaa tggattgaca tccacaaccc agccaccaat gaagttgttg gtagggttcc
      301 tcagtccacc aaagctgaga tggacgcagc cgttgagtcc tgcaaacgtg ctttccctgc
      361 gtgggcagac acatctattt taagccggca gcaggtcctg cttcgttatc agcagctcat
      421 taaagaaaac ctgaaagaaa ttgccaggtt aatcacactg gaacaaggga agactcttgc
      481 tgatgctgaa ggagatgtat tccgaggcct tcaggtggtt gagcatgcct gtagtgtgac
      541 atccctcatg ctgggagaga ccatgccatc tatcaccaaa gacatggacc tttattccta
      601 ccgtctgcct ctgggggtgt gtgcaggcat tgcaccattt aattttcctg ccatgatccc
      661 cctttggatg tttcccatgg ctatggtttg tggaaatact ttcctaatga aaccatcaga
      721 gcgagtacct ggagcaacta tgctccttgc taagttgctt caggattctg gggcccctga
      781 cggaacactg aacattatcc atggacaaca tgatgctgta aactttattt gcgatcatcc
      841 agacatcaag gcaatcagct ttgtgggatc caaccaggca ggagagtaca tcttcgaaag
      901 aggatcaaga aatggcaaga gggttcaagc caatatggga gccaaaaacc atggagtagt
      961 catgccagac gccaataagg aaaataccct caaccagctg gtcggggcag cattcggagc
     1021 tgctgggcag cgctgcatgg ctctttcaac agccatcctc gtaggggagg ctaagaagtg
     1081 gctgccagaa ctggtcgatc gggccaaaaa tctgcgagtc aatgcaggag accagcctgg
     1141 agctgatctt ggccccctga tcacccccca ggccaaagag agagtctgca atctgatcga
     1201 tagcggaaca aaagagggag cttccatcct tctggatggg cgaagaatta aagtcaaggg
     1261 ctatgaaaat ggtaactttg ttggaccaac catcatctca aatgttaagc caagtatgac
     1321 ttgttacaaa gaggagatat ttggtccagt tcttgtggtt ttggagacag aaacactgga
     1381 tgaagcaatc aagattgtaa atgacaaccc atatggaaat ggaactgcca tcttcaccac
     1441 caatggagcc accgcccgga aatatgctca catggtggat gtgggacagg tgggtgtgaa
     1501 tgtccccatt ccagtgcctt tgccgatgtt ttccttcacc ggctctcgct cttccttcag
     1561 gggagacacc aatttctatg gcaaacaggg catccagttt tacacgcagt taaagactat
     1621 cacgtctcag tggaaagaag aagatgctac gctttcctcc cctgctgtag tcatgcctac
     1681 catggggcgt tagaagcaag ttcttcaaga ctcagtccag cctgagtaat ttcccatcac
     1741 tcttggcggc cttcatgtgc catctttgct caaaacagat ctatgagaat ggaatatatt
     1801 gcaactaaat tctttctcag aactctcaat cccttcaaag ttgtagggag tgcaggataa
     1861 cactaatacc aggccttcat tgttctccat atgtctccac agtttttaag gtaattgttg
     1921 ttaagtgtga agtgtttgcc tagaattcga gcttagaact gtcttctaac tattcttttc
     1981 tgaacgtgag aggaatgtca atgtagggac agatcttcca atcactgaaa caggtcatcc
     2041 tctagttgag cctcaaatgc agccctccac gggtccccac actaacatgt aacctagttt
     2101 tacatatctt agcattgtga cgactgctct ctgctcaatg ccactttctt ctgcgtgatt
     2161 catggccact gtttaattct atcattgtcc atgttcttgt gtcttaaaat acttctcaag
     2221 gatacctcag gatgaagtga taagttagct tttagttaca tgtgccattc ttcatggttt
     2281 gcctcgacaa ccattaaatc aatactccag ccattaatgc agatacaaat agatccttag
     2341 ataaaatctt tccacaaatg attttgaccc agaaatcaaa ggatctccca tcatgaaagt
     2401 gaatacactc ttgccttaag taggcttaac ctattatttg ccaaattttg ttattcttct
     2461 tttggcagta tttctcatta gttgatactt tttaatgaaa gaactcttca tatggaataa
     2521 ttgattaggc tactagaaac atcaaagttt catgctttga cagtatccag tcaccttatt
     2581 caacttaacc agttattcag ctgcctttaa gcttgcttct ctgataatct aaaccttcag
     2641 tcagaagaga ctgatgtgct gaacagaaca gtgtgtctgt ctgacctgtc tgaagcctga
     2701 ctttctaaac tagatggcta tggactctgc ttaatcttta gtgcttagtg aggtgtggcg
     2761 ctgtcattac tgtgctctgt tctgtatagc catgtgtgga cagtgctgct ccagtccatt
     2821 gtgggtttag tgagttaaaa taaaaggtgg taaaaaaaac ctggacattc cctactcttt
     2881 ggagctaaga ttattaaagt aaccagccct ggcagaattc agagcttcag tcactttaac
     2941 aaaacacaac tctgattttc ttttgttttc catcctaaag ctaagtagac atttatactt
     3001 tgtgactgca atgcattttg ttttcttata aaacacagtt cacattaatt taatccaaca
     3061 attttgggct gggttgaaaa gtggttatta tctaaatcca agtagaattt aatcacagac
     3121 tcctaatatt ttccttagat ataaaggaag ttactttaaa aaaattacaa ctaatccaaa
     3181 ttgtgttatt tataatcata atcaacagat ttgaccagct acttgtgctc aaaagggttt
     3241 cttgtttctt agatgaaatt tatatttggt tgcatttggg ttaatatcat taaatgagaa
     3301 aaccagcatt ttcccttttt gtccttatat gtctttgctg aattttgtga gcttctatac
     3361 tgattatgaa taacaaagta caaataaaaa agccttagga aaaatacagt actgaaaaaa
//
