LOCUS       NM_020686               4779 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens 4-aminobutyrate aminotransferase (ABAT), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_020686
VERSION     NM_020686.6
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 4779)
  AUTHORS   Ren,H., Li,Y., Liu,H., Fan,J., Li,J., Li,H., Wei,H., Meng,L. and
            Cao,S.
  TITLE     A crucial exosome-related gene pair (AAMP and ABAT) is associated
            with inflammatory cells in intervertebral disc degeneration
  JOURNAL   Front Immunol 14, 1160801 (2023)
   PUBMED   37122729
  REMARK    GeneRIF: A crucial exosome-related gene pair (AAMP and ABAT) is
            associated with inflammatory cells in intervertebral disc
            degeneration.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4779)
  AUTHORS   Zheng,X.X., You,Y.X., Zhao,L.L., Du,Y., Xu,S.Q. and Tang,D.Q.
  TITLE     Effects of UGT1A, CYP2C9/19 and ABAT polymorphisms on plasma
            concentration of valproic acid in Chinese epilepsy patients
  JOURNAL   Pharmacogenomics 24 (3), 153-162 (2023)
   PUBMED   36718958
  REMARK    GeneRIF: Effects of UGT1A, CYP2C9/19 and ABAT polymorphisms on
            plasma concentration of valproic acid in Chinese epilepsy patients.
REFERENCE   3  (bases 1 to 4779)
  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 4779)
  AUTHORS   Han,H., Zhou,S., Chen,G., Lu,Y. and Lin,H.
  TITLE     ABAT targeted by miR-183-5p regulates cell functions in liver
            cancer
  JOURNAL   Int J Biochem Cell Biol 141, 106116 (2021)
   PUBMED   34742920
  REMARK    GeneRIF: ABAT targeted by miR-183-5p regulates cell functions in
            liver cancer.
            Erratum:[Int J Biochem Cell Biol. 2023 Jan;154:106342. doi:
            10.1016/j.biocel.2022.106342.. PMID: 36521342]
REFERENCE   5  (bases 1 to 4779)
  AUTHORS   Zheng,Q., Bi,R., Xu,M., Zhang,D.F., Tan,L.W., Lu,Y.P. and Yao,Y.G.
  TITLE     Exploring the Genetic Association of the ABAT Gene with Alzheimer's
            Disease
  JOURNAL   Mol Neurobiol 58 (5), 1894-1903 (2021)
   PUBMED   33404980
  REMARK    GeneRIF: Exploring the Genetic Association of the ABAT Gene with
            Alzheimer's Disease.
            Erratum:[Mol Neurobiol. 2021 May;58(5):1904. doi:
            10.1007/s12035-021-02301-4.. PMID: 33483904]
REFERENCE   6  (bases 1 to 4779)
  AUTHORS   Osei,Y.D. and Churchich,J.E.
  TITLE     Screening and sequence determination of a cDNA encoding the human
            brain 4-aminobutyrate aminotransferase
  JOURNAL   Gene 155 (2), 185-187 (1995)
   PUBMED   7721088
REFERENCE   7  (bases 1 to 4779)
  AUTHORS   De Biase,D., Barra,D., Simmaco,M., John,R.A. and Bossa,F.
  TITLE     Primary structure and tissue distribution of human 4-aminobutyrate
            aminotransferase
  JOURNAL   Eur J Biochem 227 (1-2), 476-480 (1995)
   PUBMED   7851425
REFERENCE   8  (bases 1 to 4779)
  AUTHORS   Hearl,W.G. and Churchich,J.E.
  TITLE     Interactions between 4-aminobutyrate aminotransferase and succinic
            semialdehyde dehydrogenase, two mitochondrial enzymes
  JOURNAL   J Biol Chem 259 (18), 11459-11463 (1984)
   PUBMED   6470007
REFERENCE   9  (bases 1 to 4779)
  AUTHORS   Jaeken,J., Casaer,P., de Cock,P., Corbeel,L., Eeckels,R.,
            Eggermont,E., Schechter,P.J. and Brucher,J.M.
  TITLE     Gamma-aminobutyric acid-transaminase deficiency: a newly recognized
            inborn error of neurotransmitter metabolism
  JOURNAL   Neuropediatrics 15 (3), 165-169 (1984)
   PUBMED   6148708
REFERENCE   10 (bases 1 to 4779)
  AUTHORS   Jeremiah,S. and Povey,S.
  TITLE     The biochemical genetics of human gamma-aminobutyric acid
            transaminase
  JOURNAL   Ann Hum Genet 45 (3), 231-236 (1981)
   PUBMED   7305280
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB443567.1, BC015628.2,
            AC007224.5 and AC012173.9.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_020686.5.
            
            Summary: 4-aminobutyrate aminotransferase (ABAT) is responsible for
            catabolism of gamma-aminobutyric acid (GABA), an important, mostly
            inhibitory neurotransmitter in the central nervous system, into
            succinic semialdehyde. The active enzyme is a homodimer of 50-kD
            subunits complexed to pyridoxal-5-phosphate. The protein sequence
            is over 95% similar to the pig protein. GABA is estimated to be
            present in nearly one-third of human synapses. ABAT in liver and
            brain is controlled by 2 codominant alleles with a frequency in a
            Caucasian population of 0.56 and 0.44. The ABAT deficiency
            phenotype includes psychomotor retardation, hypotonia,
            hyperreflexia, lethargy, refractory seizures, and EEG
            abnormalities. Multiple alternatively spliced transcript variants
            encoding the same protein isoform have been found for this gene.
            [provided by RefSeq, Jul 2008].
            
            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 :: BX537362.1, SRR1660803.239890.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000268251.13/
                                                  ENSP00000268251.8
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-49                DB443567.1         31-79
            50-1729             BC015628.2         1-1680
            1730-2293           AC007224.5         184764-185327
            2294-4779           AC012173.9         5949-8434
FEATURES             Location/Qualifiers
     source          1..4779
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.2"
     gene            1..4779
                     /gene="ABAT"
                     /gene_synonym="GABA-AT; GABAT; NPD009"
                     /note="4-aminobutyrate aminotransferase"
                     /db_xref="GeneID:18"
                     /db_xref="HGNC:HGNC:23"
                     /db_xref="MIM:137150"
     exon            1..95
                     /gene="ABAT"
                     /gene_synonym="GABA-AT; GABAT; NPD009"
                     /inference="alignment:Splign:2.1.0"
     exon            96..206
                     /gene="ABAT"
                     /gene_synonym="GABA-AT; GABAT; NPD009"
                     /inference="alignment:Splign:2.1.0"
     CDS             137..1639
                     /gene="ABAT"
                     /gene_synonym="GABA-AT; GABAT; NPD009"
                     /EC_number="2.6.1.19"
                     /EC_number="2.6.1.22"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; GABA transferase; 4-aminobutyrate transaminase;
                     GABA aminotransferase; gamma-amino-N-butyrate
                     transaminase; 4-aminobutyrate aminotransferase,
                     mitochondrial; GABA transaminase;
                     (S)-3-amino-2-methylpropionate transaminase;
                     gamma-aminobutyrate aminotransferase"
                     /codon_start=1
                     /product="4-aminobutyrate aminotransferase, mitochondrial
                     isoform 1 precursor"
                     /protein_id="NP_065737.2"
                     /db_xref="CCDS:CCDS10534.1"
                     /db_xref="GeneID:18"
                     /db_xref="HGNC:HGNC:23"
                     /db_xref="MIM:137150"
                     /translation="MASMLLAQRLACSFQHSYRLLVPGSRHISQAAAKVDVEFDYDGP
                     LMKTEVPGPRSQELMKQLNIIQNAEAVHFFCNYEESRGNYLVDVDGNRMLDLYSQISS
                     VPIGYSHPALLKLIQQPQNASMFVNRPALGILPPENFVEKLRQSLLSVAPKGMSQLIT
                     MACGSCSNENALKTIFMWYRSKERGQRGFSQEELETCMINQAPGCPDYSILSFMGAFH
                     GRTMGCLATTHSKAIHKIDIPSFDWPIAPFPRLKYPLEEFVKENQQEEARCLEEVEDL
                     IVKYRKKKKTVAGIIVEPIQSEGGDNHASDDFFRKLRDIARKHGCAFLVDEVQTGGGC
                     TGKFWAHEHWGLDDPADVMTFSKKMMTGGFFHKEEFRPNAPYRIFNTWLGDPSKNLLL
                     AEVINIIKREDLLNNAAHAGKALLTGLLDLQARYPQFISRVRGRGTFCSFDTPDDSIR
                     NKLILIARNKGVVLGGCGDKSIRFRPTLVFRDHHAHLFLNIFSDILADFK"
     exon            207..304
                     /gene="ABAT"
                     /gene_synonym="GABA-AT; GABAT; NPD009"
                     /inference="alignment:Splign:2.1.0"
     exon            305..334
                     /gene="ABAT"
                     /gene_synonym="GABA-AT; GABAT; NPD009"
                     /inference="alignment:Splign:2.1.0"
     exon            335..452
                     /gene="ABAT"
                     /gene_synonym="GABA-AT; GABAT; NPD009"
                     /inference="alignment:Splign:2.1.0"
     exon            453..502
                     /gene="ABAT"
                     /gene_synonym="GABA-AT; GABAT; NPD009"
                     /inference="alignment:Splign:2.1.0"
     exon            503..583
                     /gene="ABAT"
                     /gene_synonym="GABA-AT; GABAT; NPD009"
                     /inference="alignment:Splign:2.1.0"
     exon            584..676
                     /gene="ABAT"
                     /gene_synonym="GABA-AT; GABAT; NPD009"
                     /inference="alignment:Splign:2.1.0"
     exon            677..739
                     /gene="ABAT"
                     /gene_synonym="GABA-AT; GABAT; NPD009"
                     /inference="alignment:Splign:2.1.0"
     exon            740..803
                     /gene="ABAT"
                     /gene_synonym="GABA-AT; GABAT; NPD009"
                     /inference="alignment:Splign:2.1.0"
     exon            804..952
                     /gene="ABAT"
                     /gene_synonym="GABA-AT; GABAT; NPD009"
                     /inference="alignment:Splign:2.1.0"
     exon            953..1090
                     /gene="ABAT"
                     /gene_synonym="GABA-AT; GABAT; NPD009"
                     /inference="alignment:Splign:2.1.0"
     exon            1091..1258
                     /gene="ABAT"
                     /gene_synonym="GABA-AT; GABAT; NPD009"
                     /inference="alignment:Splign:2.1.0"
     exon            1259..1405
                     /gene="ABAT"
                     /gene_synonym="GABA-AT; GABAT; NPD009"
                     /inference="alignment:Splign:2.1.0"
     exon            1406..1517
                     /gene="ABAT"
                     /gene_synonym="GABA-AT; GABAT; NPD009"
                     /inference="alignment:Splign:2.1.0"
     exon            1518..4779
                     /gene="ABAT"
                     /gene_synonym="GABA-AT; GABAT; NPD009"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4760..4765
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABAT"
                     /gene_synonym="GABA-AT; GABAT; NPD009"
                     /note="hexamer: AATAAA"
     polyA_site      4779
                     /gene="ABAT"
                     /gene_synonym="GABA-AT; GABAT; NPD009"
                     /note="major polyA site"
ORIGIN      
        1 gagcagacac ccagcgctgc cggaactcgg ggcgcgcatc ccgcaagtcg gaacccggcg
       61 gatcggatcc cgcagatcgg agacggggcc tggagggtgg cagcacgcaa agggtgtccc
      121 tgtccctcaa ggggtcatgg cctccatgtt gctcgcccag cgcctggcct gcagcttcca
      181 gcacagctac cgcctgctgg tgcctggatc cagacacatt agtcaagctg cagccaaagt
      241 cgacgttgaa tttgattatg atgggcctct gatgaagacg gaagtcccag ggcctagatc
      301 tcaggagtta atgaaacagc tgaatataat tcagaatgca gaggctgtgc attttttctg
      361 caattacgaa gagagccgag gcaattacct ggttgatgtg gacggcaacc gaatgctgga
      421 tctttattcc cagatctcct ctgtccccat aggttacagc caccccgccc tgctgaaact
      481 catccaacag cctcaaaatg cgagcatgtt tgtcaacaga cccgccctcg gaatcctgcc
      541 tccggagaac tttgtggaga agctccggca gtccttgctc tcggtggctc ccaaagggat
      601 gtcccagctc atcaccatgg cctgcggctc ctgctccaat gaaaacgcct taaagaccat
      661 cttcatgtgg taccggagca aggaaagagg gcagaggggc ttctcccagg aggagctgga
      721 gacgtgcatg attaaccagg cccctggctg ccccgactac agcatcctct ccttcatggg
      781 cgcgttccat gggaggacca tgggttgctt agcgaccacg cactctaaag ccattcacaa
      841 gatcgacatc ccttcctttg actggcccat cgcaccgttc ccacggctga aataccctct
      901 ggaagagttt gtgaaagaga accaacagga ggaggcccgc tgtctggaag aggtggagga
      961 tctgattgtg aaatatcgga aaaagaagaa gacggtggcc gggatcatcg tggagcccat
     1021 ccagtccgag ggtggagaca accacgcatc cgatgacttc tttcggaagc tgagagacat
     1081 cgccaggaag catggctgcg ccttcttggt ggacgaggtc cagaccggag gaggctgcac
     1141 gggcaagttc tgggcccatg agcactgggg cctggatgac ccagcagacg tgatgacctt
     1201 cagcaagaag atgatgactg ggggcttctt ccacaaggag gagttcaggc ctaatgctcc
     1261 ctaccggatc ttcaacacct ggctggggga cccgtccaag aacctgttgc tggctgaggt
     1321 catcaacatc atcaagcggg aggacctgct aaataatgca gcccatgccg ggaaggccct
     1381 gctcacagga ctgctggacc tccaggcccg gtacccccag ttcatcagca gggtgagagg
     1441 acgaggcacc ttttgctcct tcgatactcc cgatgattcc atacggaata agctcatttt
     1501 aattgccaga aacaaaggtg tggtgttggg tggctgtggt gacaaatcca ttcgtttccg
     1561 tcccacgctg gtcttcaggg atcaccacgc tcacctgttc ctcaatattt tcagtgacat
     1621 cttagcagac ttcaagtaaa gaagccattt ccactacagt gagaaagccc ggatcccaac
     1681 agttgtcaaa ttgattagtt tgcctaattc atgttttcac ttaaaagtat cagaggtgaa
     1741 tgcacagtga agggtgattt gtggggaggg agcatttttg gtggtcttgg gggaggggag
     1801 gggagggaag ggctggtgtt gattttcctc cctgcagagc caatggtgca cattggttta
     1861 agcccagaga tcctgcttga gccctggact catcttggga agggccatgg gaggtcctgg
     1921 ctagagttct gcccaacctt gaccaacccc agcaattttt ccaaaagcca gtcaagggca
     1981 ttacatttgt tcctgggact ggcagctggg cctcctgggt gccagtccat ctcaagtgcc
     2041 atattctgtg atcacggatg ttggctcccc ctcgccctat gcaagcaaac acactctcac
     2101 ctcctctccc agcctcccgg agctctgagc acgccccacg catggtgcag gagggactgg
     2161 acagatctga ggaaggccgt aaaatgggga caggaggatt cagctcagga gtaagggaag
     2221 aggtcctctg gccccctgaa gatgagaatc acccctctca gtgcacctgg ggatccccct
     2281 aaactgtgaa ttctgccctg gacagggctt tgcccttgga ggatccccag gtggccttac
     2341 ccgtgattct tactcggcat cctccattcc ccaaactccc tcctccctgt taaatgtcaa
     2401 cctagacctg gacctgggtg ggaggaaact gtagcctgag tgtccacagg gacacacgtg
     2461 agccacaggg ctagaagcac aggcccgtca ccccaggagg aaaagcccag ggtctggggc
     2521 agcagagcca tcgcatcatg tttcccaggg caacttgagg tctgactttt ggctccctcg
     2581 ccctaagagg ctcttcctct cttttgctca tccaccttca caccacttgt gagctgaccc
     2641 ccaggaacag cttggctgtt ccaccagagc agagggaatc attgctggac tggatttctt
     2701 ctggagggaa gcaccatgaa ttaaaggtgc cagagctcca tgcatggaaa agtggcctgt
     2761 tggttcaacg tggtttcctt gtacttgatc ctcctgaaat gagagatttt cctgagatga
     2821 ctgagtatgg agattaccag gcagatgata ccgaaatgct taaaggggct gtggctgagg
     2881 ctgtagcatc tctgctggag gtgagacact ctgggaactg atttgacctc gaatgctcct
     2941 aaaagagaac ttgatagcct gacagcagag aagtattatt tggtggggag tctgagaaag
     3001 cctggcttgt attatctgtc caaaaggaag cctcttcatc tcccggtgcc ttggttgact
     3061 attttggaaa taggcatatc aaggttcctg attcagcact ttgctctttt aataacaaat
     3121 cgtccaaaga tctcaaagta agggtttttt tttttagctt ccactcttcc gcagacttgg
     3181 tcatcgacct atttttgttg aagaatgaaa ggcaatgaca agtttaacat atacaaattc
     3241 gtgaattctt gttcattttg cattcctgca gtcagtgcta atccgtcgtt cttaatcagg
     3301 agttctgcca ggtttaaggt cacctgcact cccagccaag tggtgatgta tgcctcccac
     3361 tctctgcaag gttttcctca tttttatatt catttattca tcattcattc attcacctaa
     3421 ctttcattaa atagctgcac catcccaggc cctgtgcgga gcatcgggaa tacaaagatg
     3481 agataaaaca ttgtccctgc ccccgggggc tcacatgcca ctggaaacaa cagactctta
     3541 aactaacaat tcaagcaggc gccaagtgct atgacagagg tgtgaataaa agcatcagga
     3601 aatcggatgg agaaccacca ttcacccaag ggtcagagga ggtttcaaag aaaaggtgtc
     3661 attggagcag tgttttgcag aatgagccag agttcaccaa gcaggcaagg caaggaaggg
     3721 tgttgcagag agggaacagc atatgcaaag gcgtatcagt tcatggcatc acatctttca
     3781 ctggggaagc cagtttccac aggcagcatc ccaaggttca ataaggcctt atttaacaag
     3841 caagcaaaat gcaaaccaaa ccattattca tttattggct taagtatgct ttctcctgaa
     3901 aactttagca ttgggtgcaa atattcagta tggttctcgg agtccaaagg gttttaagcc
     3961 agggcacaac cagaaaagtg gctctctttg gtagggagag gggctccaat atttcgttct
     4021 ctccccatgg ggcactgaca gagaaatgaa atagttttat ctggaaaatt ccagagctat
     4081 tatttactcc ttaccaaggg aagttacttc ttgtaaaaac ttttaagcca tttatcaaca
     4141 agttcttgtt gactcagggc ataatgagtt cctgagacat gctcttttgg gggctggggc
     4201 tttagctaga agaatttcaa ggaaaagaat tctcagcaga gctcaagatt gtagaaactc
     4261 agcagaagct ggtaaaaaca tggggagccc ggaggacagg ctgctgtcca gggcagaggc
     4321 catgaagaag tgcttccgtg gccgacagtc tggaaatgaa tccatcatac attagtgcca
     4381 tagagtttag taaccgtcca gcaagtgtca tcacttttac agaaaacaag gtccagtaat
     4441 agcaagtctt agtacatcct cacttttatt ataaatgggt gttttttcat aatttttact
     4501 gacgctcagt aaccatgcaa aattgtgtat agcattaatg tatctacata cctacaccta
     4561 tctatatata agctcatggt agaaaaccat agctaagtag catcgcagac ttaagcgtac
     4621 aaagtgatct tgttcacaag taatctgttg acagtgccaa taaatgataa aaaaaaaatt
     4681 aacatgtcac aatgtaacgg atgaccatat gcacaattcc atgaattaaa tctgtttcct
     4741 gtgttagtca gtattcttaa ataaaattta taattgaaa
//
