LOCUS       NM_000274               2039 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens ornithine aminotransferase (OAT), transcript variant
            1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000274
VERSION     NM_000274.4
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 2039)
  AUTHORS   Lee,J.U., Song,K.S., Hong,J., Shin,H., Park,E., Baek,J., Park,S.,
            Baek,A.R., Lee,J., Jang,A.S., Kim,D.J., Chin,S.S., Kim,U.J.,
            Jeong,S.H. and Park,S.W.
  TITLE     Role of lung ornithine aminotransferase in idiopathic pulmonary
            fibrosis: regulation of mitochondrial ROS generation and TGF-beta1
            activity
  JOURNAL   Exp Mol Med 56 (2), 478-490 (2024)
   PUBMED   38413821
  REMARK    GeneRIF: Role of lung ornithine aminotransferase in idiopathic
            pulmonary fibrosis: regulation of mitochondrial ROS generation and
            TGF-beta1 activity.
REFERENCE   2  (bases 1 to 2039)
  AUTHORS   Lee,M.S., Dennis,C., Naqvi,I., Dailey,L., Lorzadeh,A., Ye,G.,
            Zaytouni,T., Adler,A., Hitchcock,D.S., Lin,L., Hoffman,M.T.,
            Bhuiyan,A.M., Barth,J.L., Machacek,M.E., Mino-Kenudson,M.,
            Dougan,S.K., Jadhav,U., Clish,C.B. and Kalaany,N.Y.
  TITLE     Ornithine aminotransferase supports polyamine synthesis in
            pancreatic cancer
  JOURNAL   Nature 616 (7956), 339-347 (2023)
   PUBMED   36991126
  REMARK    GeneRIF: Ornithine aminotransferase supports polyamine synthesis in
            pancreatic cancer.
REFERENCE   3  (bases 1 to 2039)
  AUTHORS   Akaki,Y., Hotta,Y., Mashima,Y., Murakami,A., Kennaway,N.G.,
            Weleber,R.G. and Inana,G.
  TITLE     A deletion in the ornithine aminotransferase gene in gyrate atrophy
  JOURNAL   J Biol Chem 267 (18), 12950-12954 (1992)
   PUBMED   1618792
REFERENCE   4  (bases 1 to 2039)
  AUTHORS   Michaud,J., Brody,L.C., Steel,G., Fontaine,G., Martin,L.S.,
            Valle,D. and Mitchell,G.
  TITLE     Strand-separating conformational polymorphism analysis: efficacy of
            detection of point mutations in the human ornithine
            delta-aminotransferase gene
  JOURNAL   Genomics 13 (2), 389-394 (1992)
   PUBMED   1612597
REFERENCE   5  (bases 1 to 2039)
  AUTHORS   Ramesh,V., Gusella,J.F. and Shih,V.E.
  TITLE     Molecular pathology of gyrate atrophy of the choroid and retina due
            to ornithine aminotransferase deficiency
  JOURNAL   Mol Biol Med 8 (1), 81-93 (1991)
   PUBMED   1682785
  REMARK    Review article
REFERENCE   6  (bases 1 to 2039)
  AUTHORS   Kobayashi,T., Nishii,M., Takagi,Y., Titani,K. and Matsuzawa,T.
  TITLE     Molecular cloning and nucleotide sequence analysis of mRNA for
            human kidney ornithine aminotransferase. An examination of
            ornithine aminotransferase isozymes between liver and kidney
  JOURNAL   FEBS Lett 255 (2), 300-304 (1989)
   PUBMED   2507357
REFERENCE   7  (bases 1 to 2039)
  AUTHORS   Mitchell,G.A., Looney,J.E., Brody,L.C., Steel,G., Suchanek,M.,
            Engelhardt,J.F., Willard,H.F. and Valle,D.
  TITLE     Human ornithine-delta-aminotransferase. cDNA cloning and analysis
            of the structural gene
  JOURNAL   J Biol Chem 263 (28), 14288-14295 (1988)
   PUBMED   3170546
REFERENCE   8  (bases 1 to 2039)
  AUTHORS   Barrett,D.J., Bateman,J.B., Sparkes,R.S., Mohandas,T., Klisak,I.
            and Inana,G.
  TITLE     Chromosomal localization of human ornithine aminotransferase gene
            sequences to 10q26 and Xp11.2
  JOURNAL   Invest Ophthalmol Vis Sci 28 (7), 1037-1042 (1987)
   PUBMED   3596985
REFERENCE   9  (bases 1 to 2039)
  AUTHORS   Simmaco,M., John,R.A., Barra,D. and Bossa,F.
  TITLE     The primary structure of ornithine aminotransferase. Identification
            of active-site sequence and site of post-translational proteolysis
  JOURNAL   FEBS Lett 199 (1), 39-42 (1986)
   PUBMED   3754226
REFERENCE   10 (bases 1 to 2039)
  AUTHORS   Inana,G., Totsuka,S., Redmond,M., Dougherty,T., Nagle,J.,
            Shiono,T., Ohura,T., Kominami,E. and Katunuma,N.
  TITLE     Molecular cloning of human ornithine aminotransferase mRNA
  JOURNAL   Proc Natl Acad Sci U S A 83 (5), 1203-1207 (1986)
   PUBMED   3456579
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB459793.1, BC016928.1 and
            R37569.1.
            
            On Aug 31, 2019 this sequence version replaced NM_000274.3.
            
            Summary: This gene encodes the mitochondrial enzyme ornithine
            aminotransferase, which is a key enzyme in the pathway that
            converts arginine and ornithine into the major excitatory and
            inhibitory neurotransmitters glutamate and GABA. Mutations that
            result in a deficiency of this enzyme cause the autosomal recessive
            eye disease Gyrate Atrophy. Alternatively spliced transcript
            variants encoding different isoforms have been described. Related
            pseudogenes have been defined on the X chromosome. [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 :: M12267.1, AK312561.1 [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                 :: ENST00000368845.6/
                                                  ENSP00000357838.5
            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
            1-15                DB459793.1         54-68
            16-2035             BC016928.1         1-2020
            2036-2039           R37569.1           16-19               c
FEATURES             Location/Qualifiers
     source          1..2039
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.13"
     gene            1..2039
                     /gene="OAT"
                     /gene_synonym="GACR; HOGA; OATASE; OKT"
                     /note="ornithine aminotransferase"
                     /db_xref="GeneID:4942"
                     /db_xref="HGNC:HGNC:8091"
                     /db_xref="MIM:613349"
     exon            1..51
                     /gene="OAT"
                     /gene_synonym="GACR; HOGA; OATASE; OKT"
                     /inference="alignment:Splign:2.1.0"
     exon            52..279
                     /gene="OAT"
                     /gene_synonym="GACR; HOGA; OATASE; OKT"
                     /inference="alignment:Splign:2.1.0"
     CDS             81..1400
                     /gene="OAT"
                     /gene_synonym="GACR; HOGA; OATASE; OKT"
                     /EC_number="2.6.1.13"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; gyrate atrophy; ornithine-oxo-acid
                     aminotransferase; ornithine aminotransferase,
                     mitochondrial; ornithine delta-aminotransferase;
                     testicular tissue protein Li 130"
                     /codon_start=1
                     /product="ornithine aminotransferase, mitochondrial
                     isoform 1 precursor"
                     /protein_id="NP_000265.1"
                     /db_xref="CCDS:CCDS7639.1"
                     /db_xref="GeneID:4942"
                     /db_xref="HGNC:HGNC:8091"
                     /db_xref="MIM:613349"
                     /translation="MFSKLAHLQRFAVLSRGVHSSVASATSVATKKTVQGPPTSDDIF
                     EREYKYGAHNYHPLPVALERGKGIYLWDVEGRKYFDFLSSYSAVNQGHCHPKIVNALK
                     SQVDKLTLTSRAFYNNVLGEYEEYITKLFNYHKVLPMNTGVEAGETACKLARKWGYTV
                     KGIQKYKAKIVFAAGNFWGRTLSAISSSTDPTSYDGFGPFMPGFDIIPYNDLPALERA
                     LQDPNVAAFMVEPIQGEAGVVVPDPGYLMGVRELCTRHQVLFIADEIQTGLARTGRWL
                     AVDYENVRPDIVLLGKALSGGLYPVSAVLCDDDIMLTIKPGEHGSTYGGNPLGCRVAI
                     AALEVLEEENLAENADKLGIILRNELMKLPSDVVTAVRGKGLLNAIVIKETKDWDAWK
                     VCLRLRDNGLLAKPTHGDIIRFAPPLVIKEDELRESIEIINKTILSF"
     exon            280..504
                     /gene="OAT"
                     /gene_synonym="GACR; HOGA; OATASE; OKT"
                     /inference="alignment:Splign:2.1.0"
     exon            505..600
                     /gene="OAT"
                     /gene_synonym="GACR; HOGA; OATASE; OKT"
                     /inference="alignment:Splign:2.1.0"
     exon            601..728
                     /gene="OAT"
                     /gene_synonym="GACR; HOGA; OATASE; OKT"
                     /inference="alignment:Splign:2.1.0"
     exon            729..851
                     /gene="OAT"
                     /gene_synonym="GACR; HOGA; OATASE; OKT"
                     /inference="alignment:Splign:2.1.0"
     exon            852..980
                     /gene="OAT"
                     /gene_synonym="GACR; HOGA; OATASE; OKT"
                     /inference="alignment:Splign:2.1.0"
     exon            981..1094
                     /gene="OAT"
                     /gene_synonym="GACR; HOGA; OATASE; OKT"
                     /inference="alignment:Splign:2.1.0"
     exon            1095..1239
                     /gene="OAT"
                     /gene_synonym="GACR; HOGA; OATASE; OKT"
                     /inference="alignment:Splign:2.1.0"
     exon            1240..2039
                     /gene="OAT"
                     /gene_synonym="GACR; HOGA; OATASE; OKT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2016..2021
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OAT"
                     /gene_synonym="GACR; HOGA; OATASE; OKT"
                     /note="hexamer: AATAAA"
     polyA_site      2039
                     /gene="OAT"
                     /gene_synonym="GACR; HOGA; OATASE; OKT"
                     /note="major polyA site"
ORIGIN      
        1 gttgcgcttc atagacgccg cgtgtacccg gttgtcctca ggcgctgtca gatctgtggt
       61 ttttctactt gaaggacaca atgttttcca aactagcaca tttgcagagg tttgctgtac
      121 ttagtcgcgg agttcattct tcagtggctt ctgctacatc tgttgcaact aaaaaaacag
      181 tccaaggccc tccaacctct gatgacattt ttgaaaggga atataagtat ggtgcacaca
      241 actaccatcc tttacctgta gccctggaga gaggaaaagg tatttactta tgggatgtag
      301 aaggcagaaa atattttgac ttcctgagtt cttacagtgc tgtcaaccaa gggcattgtc
      361 accccaagat tgtgaatgct ctgaagagtc aagtggacaa attgacctta acatctagag
      421 ctttctataa taacgtactt ggtgaatatg aggagtatat tactaaactt ttcaactacc
      481 acaaagttct tcctatgaat acaggagtgg aggctggaga gactgcctgt aaactagctc
      541 gtaagtgggg ctataccgtg aagggcattc agaaatacaa agcaaagatt gtttttgcag
      601 ctgggaactt ctggggtagg acgttgtctg ctatctccag ttccacagac ccaaccagtt
      661 acgatggttt tggaccattt atgccgggat tcgacatcat tccctataat gatctgcccg
      721 cactggagcg tgctcttcag gatccaaatg tggctgcgtt catggtagaa ccaattcagg
      781 gtgaagcagg cgttgttgtt ccggatccag gttacctaat gggagtgcga gagctctgca
      841 ccaggcacca ggttctcttt attgctgatg aaatacagac aggattggcc agaactggta
      901 gatggctggc tgttgattat gaaaatgtca gacctgatat agtcctcctt ggaaaggccc
      961 tttctggggg cttataccct gtgtctgcag tgctgtgtga tgatgacatc atgctgacca
     1021 ttaagccagg ggagcatggg tccacatacg gtggcaatcc actaggctgc cgagtggcca
     1081 tcgcagccct tgaggtttta gaagaagaaa accttgctga aaatgcagac aaattgggca
     1141 ttatcttgag aaatgaactc atgaagctac cttctgatgt tgtaactgcc gtaagaggaa
     1201 aaggattatt aaacgctatt gtcattaaag aaaccaaaga ttgggatgct tggaaggtgt
     1261 gtctacgact tcgagataat ggacttctgg ccaagccaac ccatggcgac attatcaggt
     1321 ttgcgcctcc gctggtgatc aaggaggatg agcttcgaga gtccattgaa attattaaca
     1381 agaccatctt gtctttctga gggtagccag ctgttttcag tggtccctgg gagccagctg
     1441 gagacaggtg gtcctgtaaa agctttattc ctaatgtggg cacattccac tcccatgagt
     1501 cttcaaaaac tttttttttg aatatatttt tttcagttga tacataatag aacaacgttt
     1561 atgaacctgc cgtttgcttt gtaacgtaac taaataatgt aatggcatct atattcagtt
     1621 gaagtgtttt gatgtgcatg tgtacttcct aaggtgaaat gcatctatat acagacagcc
     1681 tctaaatcaa gtccttcagt ataattgata tatgttttta taatttcctc actggtataa
     1741 gtgtttcata tttgaaaaag ttatctctgg gtattgcata aaaggcttca tcttataaag
     1801 tgaaatcatt gttattgaat tttaggaagg attaatggtt aagtgtatat aaaatactaa
     1861 tattaagtaa acttcatatt ggccaacacc agggttgtat tctatggatg tcattatttt
     1921 gaattaagaa ttagtgttta acattcctaa attgttttga gtgcttgatt ataatttgta
     1981 aaaaatgttt attttcaata cttctttaaa tttaaaataa agcttatatt tcaaatgtc
//
