LOCUS       NM_172532               5647 bp    mRNA    linear   ROD 01-OCT-2024
DEFINITION  Mus musculus aldhehyde dehydrogenase family 5, subfamily A1
            (Aldh5a1), mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_172532
VERSION     NM_172532.3
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 5647)
  AUTHORS   Andersen,J.V., Marian,O.C., Qvist,F.L., Westi,E.W., Aldana,B.I.,
            Schousboe,A., Don,A.S., Skotte,N.H. and Wellendorph,P.
  TITLE     Deficient brain GABA metabolism leads to widespread impairments of
            astrocyte and oligodendrocyte function
  JOURNAL   Glia 72 (10), 1821-1839 (2024)
   PUBMED   38899762
REFERENCE   2  (bases 1 to 5647)
  AUTHORS   Zhang,D., Deng,W., Jiang,T., Zhao,Y., Bai,D., Tian,Y., Kong,S.,
            Zhang,L., Wang,H., Gao,S. and Lu,Z.
  TITLE     Maternal Ezh1/2 deficiency impairs the function of mitochondria in
            mouse oocytes and early embryos
  JOURNAL   J Cell Physiol 239 (6), e31244 (2024)
   PUBMED   38529784
REFERENCE   3  (bases 1 to 5647)
  AUTHORS   Brown,M.N., Walters,D.C., Schmidt,M.A., Hill,J., McConnell,A.,
            Jansen,E.E.W., Salomons,G.S., Arning,E., Bottiglieri,T.,
            Gibson,K.M. and Roullet,J.B.
  TITLE     Maternal glutamine supplementation in murine succinic semialdehyde
            dehydrogenase deficiency, a disorder of gamma-aminobutyric acid
            metabolism
  JOURNAL   J Inherit Metab Dis 42 (5), 1030-1039 (2019)
   PUBMED   31032972
  REMARK    GeneRIF: Maternal glutamine supplementation in murine succinic
            semialdehyde dehydrogenase deficiency, a disorder of
            gamma-aminobutyric acid metabolism.
REFERENCE   4  (bases 1 to 5647)
  AUTHORS   Vogel,K.R., Ainslie,G.R., Jansen,E.E., Salomons,G.S., Roullet,J.B.
            and Gibson,K.M.
  TITLE     In vitro modeling of experimental succinic semialdehyde
            dehydrogenase deficiency (SSADHD) using brain-derived neural stem
            cells
  JOURNAL   PLoS One 12 (10), e0186919 (2017)
   PUBMED   29053743
  REMARK    GeneRIF: NSC model of SSADHD will be valuable in providing a
            first-tier screen for centrally-acting therapeutics and
            prioritizing therapeutic concepts of preclinical animal studies
            applicable to SSADHD
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5647)
  AUTHORS   Vogel,K.R., Ainslie,G.R., Jansen,E.E., Salomons,G.S. and
            Gibson,K.M.
  TITLE     Therapeutic relevance of mTOR inhibition in murine succinate
            semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA
            metabolism
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1863 (1), 33-42 (2017)
   PUBMED   27760377
REFERENCE   6  (bases 1 to 5647)
  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
REFERENCE   7  (bases 1 to 5647)
  AUTHORS   Gupta,M., Hogema,B.M., Grompe,M., Bottiglieri,T.G., Concas,A.,
            Biggio,G., Sogliano,C., Rigamonti,A.E., Pearl,P.L., Snead,O.C. 3rd,
            Jakobs,C. and Gibson,K.M.
  TITLE     Murine succinate semialdehyde dehydrogenase deficiency
  JOURNAL   Ann Neurol 54 Suppl 6, S81-S90 (2003)
   PUBMED   12891658
  REMARK    Review article
REFERENCE   8  (bases 1 to 5647)
  AUTHORS   Gupta,M., Greven,R., Jansen,E.E., Jakobs,C., Hogema,B.M.,
            Froestl,W., Snead,O.C., Bartels,H., Grompe,M. and Gibson,K.M.
  TITLE     Therapeutic intervention in mice deficient for succinate
            semialdehyde dehydrogenase (gamma-hydroxybutyric aciduria)
  JOURNAL   J Pharmacol Exp Ther 302 (1), 180-187 (2002)
   PUBMED   12065715
REFERENCE   9  (bases 1 to 5647)
  AUTHORS   Gibson,K.M., Schor,D.S., Gupta,M., Guerand,W.S., Senephansiri,H.,
            Burlingame,T.G., Bartels,H., Hogema,B.M., Bottiglieri,T.,
            Froestl,W., Snead,O.C., Grompe,M. and Jakobs,C.
  TITLE     Focal neurometabolic alterations in mice deficient for succinate
            semialdehyde dehydrogenase
  JOURNAL   J Neurochem 81 (1), 71-79 (2002)
   PUBMED   12067239
REFERENCE   10 (bases 1 to 5647)
  AUTHORS   Hogema,B.M., Gupta,M., Senephansiri,H., Burlingame,T.G., Taylor,M.,
            Jakobs,C., Schutgens,R.B., Froestl,W., Snead,O.C.,
            Diaz-Arrastia,R., Bottiglieri,T., Grompe,M. and Gibson,K.M.
  TITLE     Pharmacologic rescue of lethal seizures in mice deficient in
            succinate semialdehyde dehydrogenase
  JOURNAL   Nat Genet 29 (2), 212-216 (2001)
   PUBMED   11544478
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK052703.1, AK144030.1, AK164287.1 and CB723582.1.
            
            On Dec 19, 2009 this sequence version replaced NM_172532.2.
            
            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 :: AK052703.1, SRR10223971.13223.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1982              AK052703.1         2-1983
            1983-2449           AK144030.1         1967-2433
            2450-5627           AK164287.1         117-3294
            5628-5647           CB723582.1         458-477
FEATURES             Location/Qualifiers
     source          1..5647
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="13"
                     /map="13 10.77 cM"
     gene            1..5647
                     /gene="Aldh5a1"
                     /gene_synonym="6330403E24Rik; Ahd-1; Ahd1; D630032B01Rik;
                     SSADH; Ssdh1"
                     /note="aldhehyde dehydrogenase family 5, subfamily A1"
                     /db_xref="GeneID:214579"
                     /db_xref="MGI:MGI:2441982"
     exon            1..411
                     /gene="Aldh5a1"
                     /gene_synonym="6330403E24Rik; Ahd-1; Ahd1; D630032B01Rik;
                     SSADH; Ssdh1"
                     /inference="alignment:Splign:2.1.0"
     CDS             94..1665
                     /gene="Aldh5a1"
                     /gene_synonym="6330403E24Rik; Ahd-1; Ahd1; D630032B01Rik;
                     SSADH; Ssdh1"
                     /EC_number="1.2.1.24"
                     /note="succinate-semialdehyde dehydrogenase,
                     mitochondrial; aldehyde dehydrogenase family 5 member A1;
                     NAD(+)-dependent succinic semialdehyde dehydrogenase;
                     aldehyde dehydrogenase 1, mitochondrial; aldehyde
                     dehydrogenase family 5, subfamily A1"
                     /codon_start=1
                     /product="succinate-semialdehyde dehydrogenase,
                     mitochondrial precursor"
                     /protein_id="NP_766120.1"
                     /db_xref="CCDS:CCDS26383.1"
                     /db_xref="GeneID:214579"
                     /db_xref="MGI:MGI:2441982"
                     /translation="MATCFLLRSFWAARPALPPPGRFRPEPAGTPRRSYASGPGGLHA
                     DLLRGDSFVGGRWLPAPATFPVYDPASGAKLGTVADCGVPEARAAVRAAYDAFNSWKG
                     VSVKERSLLLRKWYDLMIQNKDDLAKIITAESGKPLKEAQGEILYSALFLEWFSEEAR
                     RIYGDIIYTSAKDKRGLVLKQPVGVAAIITPWNFPSAMITRKVGAALAAGCTVVVKPA
                     EDTPYSALALAQLANQAGIPAGVYNVIPCSRNKAKEVGEVLCTDPLVSKISFTGSTAT
                     GKILLHHAANSVKRVSMELGGLAPFIVFDSANVDQAVAGAMASKFRNAGQTCVCSNRF
                     LVQRGIHDSFVTKFAEAMKKSLRVGNGFEEGTTQGPLINEKAVEKVEKQVNDAVAKGA
                     TVVTGGKRHQSGGNFFEPTLLSNVTRDMLCITEETFGPLAPVIKFDKEEEAVAIANAA
                     EVGLAGYFYSQDPAQIWRVAEQLEVGMVGVNEGLISSVECPFGGVKQSGLGREGSKYG
                     IDEYLEVKYVCYGGL"
     exon            412..495
                     /gene="Aldh5a1"
                     /gene_synonym="6330403E24Rik; Ahd-1; Ahd1; D630032B01Rik;
                     SSADH; Ssdh1"
                     /inference="alignment:Splign:2.1.0"
     exon            496..666
                     /gene="Aldh5a1"
                     /gene_synonym="6330403E24Rik; Ahd-1; Ahd1; D630032B01Rik;
                     SSADH; Ssdh1"
                     /inference="alignment:Splign:2.1.0"
     exon            667..783
                     /gene="Aldh5a1"
                     /gene_synonym="6330403E24Rik; Ahd-1; Ahd1; D630032B01Rik;
                     SSADH; Ssdh1"
                     /inference="alignment:Splign:2.1.0"
     exon            784..927
                     /gene="Aldh5a1"
                     /gene_synonym="6330403E24Rik; Ahd-1; Ahd1; D630032B01Rik;
                     SSADH; Ssdh1"
                     /inference="alignment:Splign:2.1.0"
     exon            928..1071
                     /gene="Aldh5a1"
                     /gene_synonym="6330403E24Rik; Ahd-1; Ahd1; D630032B01Rik;
                     SSADH; Ssdh1"
                     /inference="alignment:Splign:2.1.0"
     exon            1072..1230
                     /gene="Aldh5a1"
                     /gene_synonym="6330403E24Rik; Ahd-1; Ahd1; D630032B01Rik;
                     SSADH; Ssdh1"
                     /inference="alignment:Splign:2.1.0"
     exon            1231..1400
                     /gene="Aldh5a1"
                     /gene_synonym="6330403E24Rik; Ahd-1; Ahd1; D630032B01Rik;
                     SSADH; Ssdh1"
                     /inference="alignment:Splign:2.1.0"
     exon            1401..1459
                     /gene="Aldh5a1"
                     /gene_synonym="6330403E24Rik; Ahd-1; Ahd1; D630032B01Rik;
                     SSADH; Ssdh1"
                     /inference="alignment:Splign:2.1.0"
     exon            1460..5647
                     /gene="Aldh5a1"
                     /gene_synonym="6330403E24Rik; Ahd-1; Ahd1; D630032B01Rik;
                     SSADH; Ssdh1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1686..1691
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Aldh5a1"
                     /gene_synonym="6330403E24Rik; Ahd-1; Ahd1; D630032B01Rik;
                     SSADH; Ssdh1"
                     /note="hexamer: AATAAA"
     polyA_site      1711
                     /gene="Aldh5a1"
                     /gene_synonym="6330403E24Rik; Ahd-1; Ahd1; D630032B01Rik;
                     SSADH; Ssdh1"
     regulatory      5612..5617
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Aldh5a1"
                     /gene_synonym="6330403E24Rik; Ahd-1; Ahd1; D630032B01Rik;
                     SSADH; Ssdh1"
                     /note="hexamer: AATAAA"
     polyA_site      5636
                     /gene="Aldh5a1"
                     /gene_synonym="6330403E24Rik; Ahd-1; Ahd1; D630032B01Rik;
                     SSADH; Ssdh1"
                     /note="major polyA site"
ORIGIN      
        1 gtccccgccg ccgggctccc gctttcccgc gacccctgag atcctgcagc tcgcttgcct
       61 gtcccttgcc ggtgtcgccg ctactgccgg gccatggcga cctgctttct gctgcggagc
      121 ttctgggccg cgcgtcctgc gctgccgcct cccggccgct tccgcccgga gcccgcagga
      181 accccgcggc gcagctacgc cagcggcccc gggggcctcc acgccgacct actccgcggg
      241 gacagcttcg tgggcggccg ctggctccca gcccccgcca ccttcccggt gtacgacccg
      301 gccagcggcg ccaagctggg caccgtggcc gactgcgggg tacccgaggc ccgcgctgct
      361 gtgcgcgccg cctacgatgc cttcaacagc tggaaagggg tctcggtcaa ggagaggagc
      421 ttactactcc gtaaatggta cgacttaatg atacaaaata aggacgacct tgccaagatc
      481 ataacagccg agagtggaaa gccactgaaa gaggcccagg gagaaattct gtattcagcc
      541 cttttcctgg agtggttctc agaggaagct cgccgtattt atggagacat catctatacc
      601 tctgccaaag ataagcgagg gctagtcctc aagcagcccg ttggtgtggc ggccatcatc
      661 acaccgtgga attttcccag tgcgatgatc acccggaaag tgggggccgc cttggcagct
      721 ggctgcactg tggtggtgaa acctgctgaa gacacaccct attccgccct ggccctggct
      781 cagcttgcaa accaggcggg aatccctgca ggtgtctaca acgtcattcc ctgctctaga
      841 aacaaggcca aggaagtggg agaggtcctg tgtaccgatc cattggtgtc caaaatttcc
      901 tttactggct caacagcaac gggaaagatc ctgctacatc acgcagcaaa ttctgtgaag
      961 cgtgtctcca tggagttggg tggcctcgcc ccattcattg tctttgacag tgccaacgta
     1021 gaccaggccg tcgcgggggc aatggcgtct aaatttagga atgctgggca gacttgcgtt
     1081 tgctcaaaca gattcttggt acagcggggt atccacgatt cctttgtaac gaaatttgcg
     1141 gaagccatga agaaaagcct gcgtgtaggt aacggatttg aggaaggaac gactcaaggg
     1201 ccgttaatta atgagaaagc tgtagaaaag gtagagaagc aggtgaatga cgcagttgcc
     1261 aaaggggcca cggttgtgac gggcggaaag cgacaccaaa gtggaggaaa tttctttgag
     1321 cccaccctgc tcagcaatgt caccagggac atgctctgca tcactgagga gacctttgga
     1381 cctctggcac cagtcatcaa gtttgataag gaggaagagg ccgtcgccat cgcaaatgca
     1441 gctgaggttg gattggcagg ttacttttac tctcaagacc cggcccagat ctggagagtg
     1501 gcggagcagc tggaggtcgg catggtcggt gtgaatgaag ggctcatctc ttcagtggaa
     1561 tgtccttttg gtggggtgaa acagtccggc cttgggcgcg aggggtccaa gtatggcatt
     1621 gacgagtacc tagaggtcaa gtatgtgtgt tacggaggct tgtagggttc tgcacttctt
     1681 taagaaataa aactacctag atctgtaggg acattccatc cattttttac aacacatgag
     1741 taggttatca gagttaatga atttttaaaa atccagccag gcctcatttc ttagatgtaa
     1801 atcctaaccc tccccttatc taactaagga ccaatagatg ccatatacct gtggctgtgg
     1861 gtcccagcca gtcctgagac cccagcacaa ccccactgcc tcaggacaag gtacagagtg
     1921 aatgttcaca taccctctgg cacctcacaa agtatagtca ttgtgtgggc gggggggggg
     1981 ggtccccagt ccttatggga ccgtgcaact ttggttcaga acgcagggaa agggacgagg
     2041 taataggaca gctaggttag gaggaggtgc gcatccctgc ctaggcacct gtcagcgttg
     2101 atgatcagct ggctgcctgt tccagggggt tgtggcaaag gctttgggtt cctaagactt
     2161 ctttataaaa cgcacagact tcctgtgctc tgtggaatga gggggtgttt ctccttgttt
     2221 ctgggctgct gtttaaatta ctgggagcag aattgctttg ggtttgtttt gttttgtctt
     2281 gctttctttg gtttatcctg gtttggtttg gctttatgcg acagggtctt gctaagtagc
     2341 ctagctggct ttcaaactca caggtctcct ctatcagcct ccgaagtgct agggtcccag
     2401 gcatgctcta ccacagctgg gtaaatggaa gtctccaatg ccctaaactt taaacttacg
     2461 gctcatgctt cattttgttc ctcgtagaaa atcaacctaa actggaggca aaaatcagca
     2521 gagtcgggtt ggtaggatgg aaaacatggc tttgtttctt ctccagagct gggtgttgag
     2581 tccatggcct tgtgcatact agcgtgtgtt ctgccactga gctatcgcta gctctttttt
     2641 ctttaatttt aatttttgag acagggtctt gataagtcac actggttggc cttgagctcc
     2701 ttattgtcct gcctcagcat cctccatagc tgggtgacag accaggccaa tggacagcag
     2761 gggctcccag ctgcctccta ctgccttagg tatgctgttt agggctctgt gccccatgtg
     2821 tagagattca tgcttggctt aaaggacttt gtgagcctgg aagggaaaaa aaatgcttca
     2881 caaaatggtg gaaatgcagc tcaactccag gaaccatttt gattacaagc agtacctcgc
     2941 tgccccctcc ttgaactcag gaggtgactt cgtggaggaa agaaaccagg tgcctccttg
     3001 ttcacctgaa taagtctgac ccaggctttc tgtgccaggg tgtggccact gctaaccctg
     3061 cagaagagca aatacatttt aaccactgtg aaaaattatt cccacaattg ccagtctgct
     3121 gtgggcgaga gctgaagcca tgaatctcag gcacctttgt cctaggaaaa gcatttatgc
     3181 ttcgtgattc aaaaacaaag caccacacac agggacctgc aagatagctt ggtgggtaaa
     3241 ggctttgctg gacaagcctg gtgacctgag acctgagttc tatccctgga acctacagaa
     3301 agacagagag aaccaacgtg acagtgttga cctctgacct ccacaaatgc accagaggca
     3361 tgcactccca taaattcaaa acacatacac acacacacac ataccccaaa cactgaaact
     3421 ccccgaaact ggtgttgatc tccctttgaa acaatttaag taaggaaaat ctaggtcctt
     3481 gtagacatgg ctcccatcta cctagaagct gtttatcccc aataggcaac aaaggagttc
     3541 tctgctccat gcccatctgt gcagagagcc cactggcata ctctgtggat gttctgtgag
     3601 acatctacag gaatgatagc agagctagct gcggtggttc ctaaacacta agtcccaagt
     3661 cactgggaac ttcaaataag gacgtcatgg ttcttaaggt ccctgagcat aagaataaag
     3721 tagaagtctt catcctaggg accccaccca agtggcaaga gtcacaactc aggatgttca
     3781 tggtctgttt attctattct tctgtatagt tggtttctac cacattttct aattaaaatt
     3841 tttaaatttt atggacatgg cattttgcct ctatgtatat ctgtgcacca catgtgtgct
     3901 ggttccctca agaggccaga aaagggcatt gcatcaccta gaaatggagt tatagatggt
     3961 tgtagtccac cttgtgagtt tggggaggca aatcctagct ggtcctctga agaaaggcag
     4021 ccaaatctta acttctgagc caccttgcca actccgacat ttctaatttc ttaagatttg
     4081 tgcccatctt tttttttcaa ttaagaatac aaatgccttg ctggcatttt gtagaaaatg
     4141 aatacactca ctgaatgtga actcattcca aatacacgtt aaacagtgtc aaccagcagg
     4201 ttcctggact gtgcggcaag tttgtacttt ttgtgtgtgc atgtttgatt tactgggtag
     4261 atcactggcc cacacatttg ttacaataaa tgtaatcaat ttttgtgatt aaaataatgg
     4321 ggatgggtat cagaggtaaa gtatatcatt agcatactgg agatgatggg attagtcatc
     4381 accaaaacgt taacatgaaa gaacatctta cttagaaaaa tgcttttggg ttatgggaag
     4441 acgagtttgg cttttgatat tgtttttaaa caggatctcc tgttagcctt aaactcctgg
     4501 gctcggatga tccttagctt cccagatatc tgtaacaata agcatgttgt caccaaatca
     4561 gctaagagtc gatttttttt tattattatt tttaagggtt tttgagtttg ggcctcatgt
     4621 agttcaggct cacctgggaa ctctcctgct ccacttcctg tgttggagtc acgcctgcga
     4681 ccatgcccag ctaaggagtg tttttcgatg aacctttgtt actgttccat aagatatgta
     4741 acaggtggga gtttttgaag atgtctatac agttatgtaa gaacaaggct taatgaacca
     4801 caacctgtga gccagatctg acctgccacc tgattttgta taactcatga gtttaaagtg
     4861 ttttcatatg tcccaatgga ttgggtgggt tagaacagtt gtttcctgaa acctgtgagt
     4921 gagcagcctc agtgccccat gcctgagtag ctgtgttgtg acagtatggc ctacagagcc
     4981 taaaggactt gctacaaagc tgctaaaaaa ggtttacagc ccttatctat accaatcgaa
     5041 agacactggc ttcccctgct tatgaggcat tattttattc tattaaacac cttctgtgaa
     5101 aagggcacat tttctgagcc tttgttatta gggcttcttg gcagtaatta tcaactcaaa
     5161 tgatactagc ctgatactaa tcctgtctcc caggtagtgg ggctcactga aagtgtcaag
     5221 agttcatctg tgttttacat ctgagggcct ttaagcaggg ccccaaagca agtgcttggt
     5281 tcttctttcg gtatctttgc tcttctggga cttgggggag aataaagatc agacacacaa
     5341 tgtagacaag cctattttgt gatgtgatga ccttcaaatt ggatcccgtg gcttgtcctc
     5401 tctgaaggcc ggagcccagt gttttagtta cccctgtgca gctacttcaa aacagaattt
     5461 tacttgaata cttaatactg tgactgtttc atgccatact ttgtgagaca aatctcatga
     5521 gttgttgaga aatatatatt gctctataaa catgtacaca ttgcttcatt tttctagtgt
     5581 gtgacattgt gtgatcaaca gagttgaatc taataaatgt ttaacaggat ttcttatttc
     5641 tgggtta
//
