LOCUS       NM_172961               4653 bp    mRNA    linear   ROD 07-MAY-2024
DEFINITION  Mus musculus 4-aminobutyrate aminotransferase (Abat), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_172961 NM_020555 XM_358757
VERSION     NM_172961.3
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 4653)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 4653)
  AUTHORS   Kang,S., Liu,L., Wang,T., Cannon,M., Lin,P., Fan,T.W., Scott,D.A.,
            Wu,H.J., Lane,A.N. and Wang,R.
  TITLE     GAB functions as a bioenergetic and signalling gatekeeper to
            control T cell inflammation
  JOURNAL   Nat Metab 4 (10), 1322-1335 (2022)
   PUBMED   36192601
REFERENCE   3  (bases 1 to 4653)
  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   4  (bases 1 to 4653)
  AUTHORS   Chen,X., Cao,Q., Liao,R., Wu,X., Xun,S., Huang,J. and Dong,C.
  TITLE     Loss of ABAT-Mediated GABAergic System Promotes Basal-Like Breast
            Cancer Progression by Activating Ca2+-NFAT1 Axis
  JOURNAL   Theranostics 9 (1), 34-47 (2019)
   PUBMED   30662552
  REMARK    GeneRIF: These findings have provided underlying molecular details
            for the aggressive behavior of basal-like breast cancer (BLBC). The
            Snail-mediated downregulation of ABAT expression in BLBC provides
            tumorigenic and metastatic advantages by activating GABA-mediated
            Ca(2+)-NFAT1 axis.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4653)
  AUTHORS   Morland,C., Froland,A.S., Pettersen,M.N., Storm-Mathisen,J.,
            Gundersen,V., Rise,F. and Hassel,B.
  TITLE     Propionate enters GABAergic neurons, inhibits GABA transaminase,
            causes GABA accumulation and lethargy in a model of propionic
            acidemia
  JOURNAL   Biochem J 475 (4), 749-758 (2018)
   PUBMED   29339464
  REMARK    GeneRIF: Propionate-mediated inhibition of neuronal GABA
            transaminase, an enzyme of the inner mitochondrial membrane,
            indicates entry of propionate into neuronal
            mitochondria.Propionate-induced inhibition of energy metabolism in
            GABAergic neurons may render the striatum, in which >90% of the
            neurons are GABAergic, particularly vulnerable to degeneration in
            propionic acidemia
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4653)
  AUTHORS   Schilling,K. and Oberdick,J.
  TITLE     The treasury of the commons: making use of public gene expression
            resources to better characterize the molecular diversity of
            inhibitory interneurons in the cerebellar cortex
  JOURNAL   Cerebellum 8 (4), 477-489 (2009)
   PUBMED   19554387
REFERENCE   7  (bases 1 to 4653)
  AUTHORS   Iwasato,T., Nomura,R., Ando,R., Ikeda,T., Tanaka,M. and Itohara,S.
  TITLE     Dorsal telencephalon-specific expression of Cre recombinase in PAC
            transgenic mice
  JOURNAL   Genesis 38 (3), 130-138 (2004)
   PUBMED   15048810
REFERENCE   8  (bases 1 to 4653)
  AUTHORS   Abel,M.S. and Kohli,N.
  TITLE     GABA-transaminase antisense oligodeoxynucleotide modulates cocaine-
            and pentylenetetrazol-induced seizures in mice
  JOURNAL   Metab Brain Dis 14 (4), 253-263 (1999)
   PUBMED   10850552
REFERENCE   9  (bases 1 to 4653)
  AUTHORS   Medina-Kauwe,L.K., Tobin,A.J., De Meirleir,L., Jaeken,J.,
            Jakobs,C., Nyhan,W.L. and Gibson,K.M.
  TITLE     4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency
  JOURNAL   J Inherit Metab Dis 22 (4), 414-427 (1999)
   PUBMED   10407778
  REMARK    Review article
REFERENCE   10 (bases 1 to 4653)
  AUTHORS   Park,J., Osei,Y.D. and Churchich,J.E.
  TITLE     Isolation and characterization of recombinant mitochondrial
            4-aminobutyrate aminotransferase
  JOURNAL   J Biol Chem 268 (11), 7636-7639 (1993)
   PUBMED   8385114
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CX237932.1 and BC058521.1.
            
            On Jan 8, 2010 this sequence version replaced NM_172961.2.
            
            Summary: The encoded gene product is responsible for catabolism of
            gamma-aminobutyric acid (GABA), a mostly inhibitory
            neurotransmitter in the central nervous system, into succinic
            semialdehyde. Deficiency of this encoded protein includes
            psychomotor retardation, hypotonia, hyperreflexia, lethargy,
            refractory seizures, and EEG abnormalities. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Jan
            2010].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and 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 :: BC058079.1, SRR1660815.183801.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849377
                                           [ECO:0000348]
            ##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
            1-60                CX237932.1         1-60
            61-4653             BC058521.1         1-4593
FEATURES             Location/Qualifiers
     source          1..4653
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="16"
                     /map="16 4.06 cM"
     gene            1..4653
                     /gene="Abat"
                     /gene_synonym="9630038C02Rik; Gabaat; Gabat; Gm9851; I54;
                     Laibat"
                     /note="4-aminobutyrate aminotransferase"
                     /db_xref="GeneID:268860"
                     /db_xref="MGI:MGI:2443582"
     exon            1..146
                     /gene="Abat"
                     /gene_synonym="9630038C02Rik; Gabaat; Gabat; Gm9851; I54;
                     Laibat"
                     /inference="alignment:Splign:2.1.0"
     exon            147..261
                     /gene="Abat"
                     /gene_synonym="9630038C02Rik; Gabaat; Gabat; Gm9851; I54;
                     Laibat"
                     /inference="alignment:Splign:2.1.0"
     CDS             192..1694
                     /gene="Abat"
                     /gene_synonym="9630038C02Rik; Gabaat; Gabat; Gm9851; I54;
                     Laibat"
                     /EC_number="2.6.1.19"
                     /EC_number="2.6.1.22"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; GABA transferase; GABA aminotransferase;
                     gamma-amino-N-butyrate transaminase; 4-aminobutyrate
                     transaminase; GABA transaminase; beta-alanine oxoglutarate
                     aminotransferase; (S)-3-amino-2-methylpropionate
                     transaminase; 4-aminobutyrate aminotransferase,
                     mitochondrial"
                     /codon_start=1
                     /product="4-aminobutyrate aminotransferase, mitochondrial
                     isoform 1 precursor"
                     /protein_id="NP_766549.2"
                     /db_xref="CCDS:CCDS27939.1"
                     /db_xref="GeneID:268860"
                     /db_xref="MGI:MGI:2443582"
                     /translation="MAFLLITRRLACSSQKNLHLFIPGSRYISQAAAKVDIEFDYDGP
                     LMKTEVPGPRSKELMKQLNTIQNAEAVHFFCNYEESRGNYLVDVDGNRMLDLYSQISS
                     VPIGYNHPALAKLVQQPQNASTFINRPALGILPPENFVDKLQESLMSVAPRGMSQLIT
                     MACGSCSNENAFKTIFMWYRSKERGQRGFSKEELETCMVNQSPGCPDYSILSFMGAFH
                     GRTMGCLATTHSKAIHKIDIPSFDWPIAPFPRLKYPLEEFTTDNQQEEARCLEEVEDL
                     IVKYRKKKRTVAGIIVEPIQSEGGDNHASDDFFRKLRDIARKHGCAFLVDEVQTGGGC
                     TGKFWAHEHWGLDDPADVMTFSKKMMTGGFFHKEEFRPSAPYRIFNTWLGDPSKNLLL
                     AEVINIIKREDLLNNVARVGKTLLTGLLDLQAQYPQFISRVRGRGTFCSFDTPDEAIR
                     NKLILIARNKGVVLGGCGDKSIRFRPTLVFRDHHAHLFLSIFSGILADFK"
     exon            262..359
                     /gene="Abat"
                     /gene_synonym="9630038C02Rik; Gabaat; Gabat; Gm9851; I54;
                     Laibat"
                     /inference="alignment:Splign:2.1.0"
     exon            360..389
                     /gene="Abat"
                     /gene_synonym="9630038C02Rik; Gabaat; Gabat; Gm9851; I54;
                     Laibat"
                     /inference="alignment:Splign:2.1.0"
     exon            390..507
                     /gene="Abat"
                     /gene_synonym="9630038C02Rik; Gabaat; Gabat; Gm9851; I54;
                     Laibat"
                     /inference="alignment:Splign:2.1.0"
     exon            508..557
                     /gene="Abat"
                     /gene_synonym="9630038C02Rik; Gabaat; Gabat; Gm9851; I54;
                     Laibat"
                     /inference="alignment:Splign:2.1.0"
     exon            558..638
                     /gene="Abat"
                     /gene_synonym="9630038C02Rik; Gabaat; Gabat; Gm9851; I54;
                     Laibat"
                     /inference="alignment:Splign:2.1.0"
     exon            639..731
                     /gene="Abat"
                     /gene_synonym="9630038C02Rik; Gabaat; Gabat; Gm9851; I54;
                     Laibat"
                     /inference="alignment:Splign:2.1.0"
     exon            732..794
                     /gene="Abat"
                     /gene_synonym="9630038C02Rik; Gabaat; Gabat; Gm9851; I54;
                     Laibat"
                     /inference="alignment:Splign:2.1.0"
     exon            795..858
                     /gene="Abat"
                     /gene_synonym="9630038C02Rik; Gabaat; Gabat; Gm9851; I54;
                     Laibat"
                     /inference="alignment:Splign:2.1.0"
     exon            859..1007
                     /gene="Abat"
                     /gene_synonym="9630038C02Rik; Gabaat; Gabat; Gm9851; I54;
                     Laibat"
                     /inference="alignment:Splign:2.1.0"
     exon            1008..1145
                     /gene="Abat"
                     /gene_synonym="9630038C02Rik; Gabaat; Gabat; Gm9851; I54;
                     Laibat"
                     /inference="alignment:Splign:2.1.0"
     exon            1146..1313
                     /gene="Abat"
                     /gene_synonym="9630038C02Rik; Gabaat; Gabat; Gm9851; I54;
                     Laibat"
                     /inference="alignment:Splign:2.1.0"
     exon            1314..1460
                     /gene="Abat"
                     /gene_synonym="9630038C02Rik; Gabaat; Gabat; Gm9851; I54;
                     Laibat"
                     /inference="alignment:Splign:2.1.0"
     exon            1461..1572
                     /gene="Abat"
                     /gene_synonym="9630038C02Rik; Gabaat; Gabat; Gm9851; I54;
                     Laibat"
                     /inference="alignment:Splign:2.1.0"
     exon            1573..4636
                     /gene="Abat"
                     /gene_synonym="9630038C02Rik; Gabaat; Gabat; Gm9851; I54;
                     Laibat"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4615..4620
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Abat"
                     /gene_synonym="9630038C02Rik; Gabaat; Gabat; Gm9851; I54;
                     Laibat"
                     /note="hexamer: AAGAAA"
     polyA_site      4636
                     /gene="Abat"
                     /gene_synonym="9630038C02Rik; Gabaat; Gabat; Gm9851; I54;
                     Laibat"
                     /note="major polyA site"
ORIGIN      
        1 gccagggtgg ctcggcgaag cttgggagcc tggtgagtcg ctgggggaag cggagcagac
       61 gccaggcgca gccaggagca tcggaaggtg atcgcgcaag tccggcccgc ggatcgcagc
      121 ctgtagatcg cagcccgggc ctggaggaca gcagcaagtg aagggggttc ctcttcctaa
      181 agaagggggt catggccttc ttgttgatta cccgacggct ggcctgcagt tcccagaaaa
      241 acctccacct cttcatacct ggatccagat atatcagcca agccgctgcc aaagttgaca
      301 ttgaatttga ttatgatgga ccactcatga agacggaagt cccggggcct agatctaagg
      361 aactaatgaa acagctgaac acaatccaga atgcagaggc cgtgcacttt ttctgcaact
      421 atgaagagag cagaggtaac tacctagtgg acgtggacgg caaccgcatg ttggacctgt
      481 attctcagat ctcctctgtg cccataggtt acaaccatcc ggctctggcg aaactcgttc
      541 aacagcctca gaacgcgagc actttcatca acagacctgc cttgggcatc ctgcctccag
      601 agaactttgt ggacaagctc caggagtcct tgatgtcggt ggcgcccagg ggcatgtccc
      661 agctcatcac catggcctgt ggctcctgct ccaatgagaa tgcattcaag accatcttca
      721 tgtggtaccg gagtaaggaa cgagggcaga gaggtttctc caaagaggag ctggagactt
      781 gcatggttaa ccagagtcct ggatgcccag actacagcat tctctccttc atgggtgctt
      841 tccatgggag gaccatgggt tgcttagcga ccacacactc caaagcaatt cacaagattg
      901 acatcccttc ctttgactgg cccattgctc cattcccacg gctgaaatat cccctggagg
      961 agtttacaac ggacaaccag caagaggagg cccgctgcct agaagaggtg gaggatttaa
     1021 ttgtgaaata tcggaaaaag aagagaacgg tggctggaat catcgtggag cccatccagt
     1081 ccgagggtgg agacaaccat gcatcagatg acttcttccg gaagctgaga gacatagcca
     1141 ggaagcatgg ctgtgccttc ttggtggacg aggtgcagac cggaggaggc tgtacaggca
     1201 agttctgggc ccatgaacac tggggcttgg atgacccagc cgatgtgatg acgttcagca
     1261 agaaaatgat gaccgggggc ttcttccaca aggaggagtt tcggccaagt gctccttacc
     1321 ggattttcaa tacctggctg ggggacccat ccaagaactt gctgctggct gaggtcatca
     1381 acatcatcaa gcgggaagac ctgctcaaca atgtggcccg tgtggggaag accctactca
     1441 cagggctgct ggacctccag gcccagtacc ctcagttcat cagcagagtg aggggacgag
     1501 gcaccttctg ttccttcgac actcccgatg aagccatacg gaataaactc atcctaattg
     1561 ccaggaacaa aggtgtggta ctggggggct gcggtgacaa gtccatccgt ttccgcccca
     1621 cgctggtctt cagggatcac cacgcccatc tgttcctcag cattttcagc ggcatcttag
     1681 cagacttcaa gtaacgcagc cgtctccatg acgctcagag agccctgcct cagcggcgtc
     1741 aacgtgatta gtttgcctaa ttcatatttt cacttccaag tttatcagag gcgaatgcat
     1801 aaactaaagg gtcatttgtg gggcaggctc attggttcag gcttgtggag gagtgggtgg
     1861 ggaggaccac ggtttgagga tcgctccttg cagagctcat ggtgaccatt ggttaaagcc
     1921 cagaagttct gtgtaagcat tgaacactgt cttaggaaag gccatgaggc catatttctg
     1981 tcaaccctgg accaaccagt ctcttagaag ccactcaagg gtataacaca tgctccgagg
     2041 tgggtgtgtc tctgaccatc tcaagcaccc tatcttgtgt ccctcacaaa caagctcttg
     2101 tcacttctta ccgagtccat agcttcatgc ccctctcgtg acttactgag ggtccagatg
     2161 gctgtcagga agatgacaag gtagggaggt aaggaccgtg tttggaggct tctggtatcc
     2221 taaacaccaa gatccactca gccctgtgcc ctgatgatgt ccctggcctg tgaattctgt
     2281 ccttgactga cccgtgctcc tggaggatcc ccagttgtgt caatgataga tagtttagtc
     2341 aacatcccca tcttgtgtca atctggactc agaggaagga gtcagcatcc tgagcatcca
     2401 gaagattcat ggaacctgaa gttgcctctg gagcctccac tgaggaacac gtacagcaga
     2461 gtccttcatc ccatctccag ggtctctgac ttgtcacccc tcatcctggg agcgccatag
     2521 ttcatctttc acccacacgc cttccctcca ttcctgagca ggactagtcc gtcccagagg
     2581 gccactgcta gacttcctgt taggggcaat gtgttcatta taaaggcata aggacaccac
     2641 accagcttgt tggttcctga tggttttctt agacttctcc gctcccccca catcccagcc
     2701 tggacttctc ctgagtatgg ggctttttct ggcagccaga agccaatgct tatgcaggct
     2761 cccgcatctc agccagaggc cagatgttct tagaactgac ttgacctgag cagaccccct
     2821 aacccttcag acaggcagtg tttatttaat gcgtagagtg cagaggggct cttttatcca
     2881 gacccctctt tgtatcctgg tgcccttgtt gactgtctgg gaagatgaat ataccagggt
     2941 ttccaaatcc agcccttttc gttctcttaa tgatgaatca cccaaagacc tggctttcat
     3001 gcttccttag acacggcctc cctcgactta cttgccttga agaagaaagg cgctgacacg
     3061 cttaacgcaa acagaaggtc cacaaatagc agttcacatc acagccctgc agtccccttt
     3121 tgtagctgtg tttaaggtca tttccatcaa tgatggggtc tgctccctcc ctccctgtaa
     3181 gctttcactc accagcgtgt ttatttacac atccattact tattcactca tcagactgtc
     3241 atgaaatatt tgtgttgttc cagggcctgt gctaagcaca ggcaccaaac ataaaaagag
     3301 agaaagtcct tgctcccggg aactcccact ctctcaggaa ccacagacca ccaatgttga
     3361 agtcagaatg gaaagtgtgc cagcaaggat ttctgaacac taaatccaac gagccttcac
     3421 agggaaagga tatttgagca gaattcttca gaatgaatag gagttagcca agcagaaaag
     3481 gcaagaagag tgaaagaagt aaaaagcatc tgcggaggta cacccgtgtg tgtgcagagg
     3541 cacacccgtg agtgtgtgga ggtacaccct tgtgtgcgtg gaggcacacc tgggcatagt
     3601 ctccgccctt tccctgggga gccagacccc acccagaaat cccaaggttc aaggtcttat
     3661 ttaacaaacc agaaaaatgc aggccaagcc ctaattcatc atattggttt aagcatgctg
     3721 cctcctgaga gccacagtgt catatacaga tacttccgca ggtccttaga gttcaaaggg
     3781 ttttaatcca ggacataagc agaaatcgct ctctttagtg aagggagcag ctgatttttt
     3841 cattttcttg ccacaaggca tgttgacaga agaataaaat tctttgtaga cagtcatctt
     3901 caaatgtact gtccgcccct tgcctggaga cagttcttcc cattttaaac aaacaaacaa
     3961 aatttaaggc gtttatccac aagttcttga ctcgggtaca gtgcgttcct gagacaccct
     4021 ctttgggagc acaggcagtt agctggaaga actccaagga aaagaatttt ccacaaaact
     4081 caagaatgtc gagacttaac gaaggctgat ggaaacccag gaagcccagt gggcagcttc
     4141 tgcctagggc agagcccaca aaccagtgcg tctgtgcaga acgtctggat ggacacccat
     4201 catgcatcag tgcaatagag tctagtaagt gtctctagcc aggcttgtca gttgtgcagg
     4261 aaacaaggcc tggtcctagc aaaccttagc atatcttccc tttttattat aaatgggtgg
     4321 ttgtttggtt tgtttatttt tataattttt actgatgctc agtaaccatg aaaaactgtg
     4381 cacattcatg tactaataga tctgtaccta tctatctctg tacgcatata tacagttcac
     4441 tgtagaaaac cacagctagc gagcatcgca gactcatgca aaccaagtga tcttgtttac
     4501 agtaaccgtc aacagtgcca ataaggggtg aggacactaa cagtgtaact ggtgaccacg
     4561 tgaacagttc catgaattaa atgtttcctg tgttaatcag tattcttaaa ttaaaagaaa
     4621 atgtttataa tggaaaaaaa aaaaaaaaaa aaa
//
