LOCUS       NM_182662               2127 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens aminoadipate aminotransferase (AADAT), transcript
            variant 2, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_182662
VERSION     NM_182662.2
KEYWORDS    RefSeq.
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 2127)
  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   2  (bases 1 to 2127)
  AUTHORS   Higazi,A.M., Kamel,H.M., Abdel-Naeem,E.A., Abdullah,N.M.,
            Mahrous,D.M. and Osman,A.M.
  TITLE     Expression analysis of selected genes involved in tryptophan
            metabolic pathways in Egyptian children with Autism Spectrum
            Disorder and learning disabilities
  JOURNAL   Sci Rep 11 (1), 6931 (2021)
   PUBMED   33767242
  REMARK    GeneRIF: Expression analysis of selected genes involved in
            tryptophan metabolic pathways in Egyptian children with Autism
            Spectrum Disorder and learning disabilities.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2127)
  AUTHORS   Blanco-Ayala,T., Sathyasaikumar,K.V., Uys,J.D.,
            Perez-de-la-Cruz,V., Pidugu,L.S. and Schwarcz,R.
  TITLE     N-Acetylcysteine Inhibits Kynurenine Aminotransferase II
  JOURNAL   Neuroscience 444, 160-169 (2020)
   PUBMED   32768617
  REMARK    GeneRIF: N-Acetylcysteine Inhibits Kynurenine Aminotransferase II.
REFERENCE   4  (bases 1 to 2127)
  AUTHORS   Teumer,A., Chaker,L., Groeneweg,S., Li,Y., Di Munno,C.,
            Barbieri,C., Schultheiss,U.T., Traglia,M., Ahluwalia,T.S.,
            Akiyama,M., Appel,E.V.R., Arking,D.E., Arnold,A., Astrup,A.,
            Beekman,M., Beilby,J.P., Bekaert,S., Boerwinkle,E., Brown,S.J., De
            Buyzere,M., Campbell,P.J., Ceresini,G., Cerqueira,C., Cucca,F.,
            Deary,I.J., Deelen,J., Eckardt,K.U., Ekici,A.B., Eriksson,J.G.,
            Ferrrucci,L., Fiers,T., Fiorillo,E., Ford,I., Fox,C.S.,
            Fuchsberger,C., Galesloot,T.E., Gieger,C., Gogele,M., De Grandi,A.,
            Grarup,N., Greiser,K.H., Haljas,K., Hansen,T., Harris,S.E., van
            Heemst,D., den Heijer,M., Hicks,A.A., den Hollander,W., Homuth,G.,
            Hui,J., Ikram,M.A., Ittermann,T., Jensen,R.A., Jing,J.,
            Jukema,J.W., Kajantie,E., Kamatani,Y., Kasbohm,E., Kaufman,J.M.,
            Kiemeney,L.A., Kloppenburg,M., Kronenberg,F., Kubo,M., Lahti,J.,
            Lapauw,B., Li,S., Liewald,D.C.M., Lim,E.M., Linneberg,A.,
            Marina,M., Mascalzoni,D., Matsuda,K., Medenwald,D., Meisinger,C.,
            Meulenbelt,I., De Meyer,T., Meyer Zu Schwabedissen,H.E.,
            Mikolajczyk,R., Moed,M., Netea-Maier,R.T., Nolte,I.M., Okada,Y.,
            Pala,M., Pattaro,C., Pedersen,O., Petersmann,A., Porcu,E.,
            Postmus,I., Pramstaller,P.P., Psaty,B.M., Ramos,Y.F.M., Rawal,R.,
            Redmond,P., Richards,J.B., Rietzschel,E.R., Rivadeneira,F.,
            Roef,G., Rotter,J.I., Sala,C.F., Schlessinger,D., Selvin,E.,
            Slagboom,P.E., Soranzo,N., Sorensen,T.I.A., Spector,T.D.,
            Starr,J.M., Stott,D.J., Taes,Y., Taliun,D., Tanaka,T., Thuesen,B.,
            Tiller,D., Toniolo,D., Uitterlinden,A.G., Visser,W.E., Walsh,J.P.,
            Wilson,S.G., Wolffenbuttel,B.H.R., Yang,Q., Zheng,H.F., Cappola,A.,
            Peeters,R.P., Naitza,S., Volzke,H., Sanna,S., Kottgen,A.,
            Visser,T.J. and Medici,M.
  CONSRTM   Lifelines Cohort Study
  TITLE     Genome-wide analyses identify a role for SLC17A4 and AADAT in
            thyroid hormone regulation
  JOURNAL   Nat Commun 9 (1), 4455 (2018)
   PUBMED   30367059
  REMARK    GeneRIF: The free thyroxine(FT4)-associated variant
            rs6854291-influences transcript levels of
            kynurenine/alpha-aminoadipate aminotransferase (AADAT) in thyroid,
            implicating AADAT as the causal gene underlying the FT4 association
            at this locus. AADAT-rs6854291 is associated with both the
            3,3',5-triiodothyronine (T3) levels and T3/T4 ratio.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2127)
  AUTHORS   Wigner,P., Czarny,P., Synowiec,E., Bijak,M., Talarowska,M.,
            Galecki,P., Szemraj,J. and Sliwinski,T.
  TITLE     Variation of genes encoding KAT1, AADAT and IDO1 as a potential
            risk of depression development
  JOURNAL   Eur Psychiatry 52, 95-103 (2018)
   PUBMED   29777939
  REMARK    GeneRIF: In this work, we assessed the relationship between
            single-nucleotide polymorphisms (SNPs) of KAT1, KAT2 and IDO1 gene
            encoding, and the risk of depression development. Our study was
            performed on the DNA isolated from peripheral blood of 281
            depressed patients and 236 controls. We genotyped, by using TaqMan
            probes, four polymorphism.
REFERENCE   6  (bases 1 to 2127)
  AUTHORS   Han,Q., Robinson,H. and Li,J.
  TITLE     Crystal structure of human kynurenine aminotransferase II
  JOURNAL   J Biol Chem 283 (6), 3567-3573 (2008)
   PUBMED   18056995
  REMARK    GeneRIF: analysis of the crystal structure of kynurenine
            aminotransferase II
REFERENCE   7  (bases 1 to 2127)
  AUTHORS   Goh,D.L., Patel,A., Thomas,G.H., Salomons,G.S., Schor,D.S.,
            Jakobs,C. and Geraghty,M.T.
  TITLE     Characterization of the human gene encoding alpha-aminoadipate
            aminotransferase (AADAT)
  JOURNAL   Mol Genet Metab 76 (3), 172-180 (2002)
   PUBMED   12126930
  REMARK    GeneRIF: A human cDNA encodes a 425-residue protein with a
            mitochondrial cleavage signal and a pyridoxal-phosphate binding
            site, ~70% identical to the mouse and rat AADAT orthologs.
            Bacterial expression studies confirm that the gene encodes AADAT
            activity.
REFERENCE   8  (bases 1 to 2127)
  AUTHORS   Yu,P., Mosbrook,D.M. and Tagle,D.A.
  TITLE     Genomic organization and expression analysis of mouse kynurenine
            aminotransferase II, a possible factor in the pathophysiology of
            Huntington's disease
  JOURNAL   Mamm Genome 10 (9), 845-852 (1999)
   PUBMED   10441733
REFERENCE   9  (bases 1 to 2127)
  AUTHORS   Okuno,E., Tsujimoto,M., Nakamura,M. and Kido,R.
  TITLE     2-Aminoadipate-2-oxoglutarate aminotransferase isoenzymes in human
            liver: a plausible physiological role in lysine and tryptophan
            metabolism
  JOURNAL   Enzyme Protein 47 (3), 136-148 (1993)
   PUBMED   8087205
REFERENCE   10 (bases 1 to 2127)
  AUTHORS   Mawal,M.R., Mukhopadhyay,A. and Deshmukh,D.R.
  TITLE     Purification and properties of alpha-aminoadipate aminotransferase
            from rat liver and kidney mitochondria
  JOURNAL   Prep Biochem 21 (2-3), 151-162 (1991)
   PUBMED   1798692
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC084866.5.
            
            On Aug 13, 2020 this sequence version replaced NM_182662.1.
            
            Summary: This gene encodes a protein that is highly similar to
            mouse and rat kynurenine aminotransferase II. The rat protein is a
            homodimer with two transaminase activities. One activity is the
            transamination of alpha-aminoadipic acid, a final step in the
            saccaropine pathway which is the major pathway for L-lysine
            catabolism. The other activity involves the transamination of
            kynurenine to produce kynurenine acid, the precursor of kynurenic
            acid which has neuroprotective properties. Several transcript
            variants encoding two different isoforms have been found for this
            gene. [provided by RefSeq, Nov 2013].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice junction at the 3' end of the first coding exon compared to
            variant 3. The resulting isoform (b) has the same N- and C-termini
            but is shorter compared to isoform a. Variants 1, 2, and 4 all
            encode the same isoform (b).
            
            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 :: AK055952.1 [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
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-97                AC084866.5         166987-167083       c
            98-210              AC084866.5         166467-166579       c
            211-379             AC084866.5         165239-165407       c
            380-512             AC084866.5         163959-164091       c
            513-587             AC084866.5         155352-155426       c
            588-797             AC084866.5         149979-150188       c
            798-863             AC084866.5         147430-147495       c
            864-946             AC084866.5         145991-146073       c
            947-1043            AC084866.5         145434-145530       c
            1044-1105           AC084866.5         144170-144231       c
            1106-1170           AC084866.5         143257-143321       c
            1171-1277           AC084866.5         141562-141668       c
            1278-1379           AC084866.5         138735-138836       c
            1380-2127           AC084866.5         137065-137812       c
FEATURES             Location/Qualifiers
     source          1..2127
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q33"
     gene            1..2127
                     /gene="AADAT"
                     /gene_synonym="KAT2; KATII; KYAT2"
                     /note="aminoadipate aminotransferase"
                     /db_xref="GeneID:51166"
                     /db_xref="HGNC:HGNC:17929"
                     /db_xref="MIM:611754"
     exon            1..97
                     /gene="AADAT"
                     /gene_synonym="KAT2; KATII; KYAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            98..210
                     /gene="AADAT"
                     /gene_synonym="KAT2; KATII; KYAT2"
                     /inference="alignment:Splign:2.1.0"
     CDS             144..1421
                     /gene="AADAT"
                     /gene_synonym="KAT2; KATII; KYAT2"
                     /EC_number="2.6.1.7"
                     /EC_number="2.6.1.39"
                     /EC_number="2.6.1.63"
                     /EC_number="2.6.1.4"
                     /EC_number="2.6.1.73"
                     /note="isoform b is encoded by transcript variant 2;
                     kynurenine aminotransferase II; L kynurenine/alpha
                     aminoadipate aminotransferase; glycine transaminase AADAT;
                     kynurenine--glyoxylate transaminase AADAT;
                     methionine--glyoxylate transaminase AADAT;
                     kynurenine/alpha-aminoadipate aminotransferase,
                     mitochondrial; KAT/AadAT; 2-aminoadipate transaminase;
                     2-aminoadipate aminotransferase; kynurenine--oxoglutarate
                     transaminase II; kynurenine--oxoglutarate aminotransferase
                     II; kynurenine--oxoglutarate transaminase 2"
                     /codon_start=1
                     /product="kynurenine/alpha-aminoadipate aminotransferase,
                     mitochondrial isoform b"
                     /protein_id="NP_872603.1"
                     /db_xref="CCDS:CCDS3814.1"
                     /db_xref="GeneID:51166"
                     /db_xref="HGNC:HGNC:17929"
                     /db_xref="MIM:611754"
                     /translation="MNYARFITAASAARNPSPIRTMTDILSRGPKSMISLAGGLPNPN
                     MFPFKTAVITVENGKTIQFGEEMMKRALQYSPSAGIPELLSWLKQLQIKLHNPPTIHY
                     PPSQGQMDLCVTSGSQQGLCKVFEMIINPGDNVLLDEPAYSGTLQSLHPLGCNIINVA
                     SDESGIVPDSLRDILSRWKPEDAKNPQKNTPKFLYTVPNGNNPTGNSLTSERKKEIYE
                     LARKYDFLIIEDDPYYFLQFNKFRVPTFLSMDVDGRVIRADSFSKIISSGLRIGFLTG
                     PKPLIERVILHIQVSTLHPSTFNQLMISQLLHEWGEEGFMAHVDRVIDFYSNQKDAIL
                     AAADKWLTGLAEWHVPAAGMFLWIKVKGINDVKELIEEKAVKMGVLMLPGNAFYVDSS
                     APSPYLRASFSSASPEQMDVAFQVLAQLIKESL"
     exon            211..379
                     /gene="AADAT"
                     /gene_synonym="KAT2; KATII; KYAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            380..512
                     /gene="AADAT"
                     /gene_synonym="KAT2; KATII; KYAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            513..587
                     /gene="AADAT"
                     /gene_synonym="KAT2; KATII; KYAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            588..797
                     /gene="AADAT"
                     /gene_synonym="KAT2; KATII; KYAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            798..863
                     /gene="AADAT"
                     /gene_synonym="KAT2; KATII; KYAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            864..946
                     /gene="AADAT"
                     /gene_synonym="KAT2; KATII; KYAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            947..1043
                     /gene="AADAT"
                     /gene_synonym="KAT2; KATII; KYAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1044..1105
                     /gene="AADAT"
                     /gene_synonym="KAT2; KATII; KYAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1106..1170
                     /gene="AADAT"
                     /gene_synonym="KAT2; KATII; KYAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1171..1277
                     /gene="AADAT"
                     /gene_synonym="KAT2; KATII; KYAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1278..1379
                     /gene="AADAT"
                     /gene_synonym="KAT2; KATII; KYAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1380..2127
                     /gene="AADAT"
                     /gene_synonym="KAT2; KATII; KYAT2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2104..2109
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AADAT"
                     /gene_synonym="KAT2; KATII; KYAT2"
                     /note="hexamer: AATAAA"
     polyA_site      2127
                     /gene="AADAT"
                     /gene_synonym="KAT2; KATII; KYAT2"
                     /note="major polyA site"
ORIGIN      
        1 acttccggtc ccctcggtca gcccctgggc tagcctctgg gccggcgcct aggccggcca
       61 acgcggacgc cgggttgcgg tgattcccag cggcgagtcc tcaaccactg aagaagaagc
      121 ttgatgcttg gctgtcagaa gacatgaatt acgcacggtt catcacggca gcgagcgcag
      181 ccagaaaccc ttctcccatc cggaccatga ctgacatatt gagcagagga ccaaaatcga
      241 tgatctcctt ggctggtggc ttaccaaatc caaacatgtt tccttttaag actgccgtaa
      301 tcactgtaga aaatggaaag accatccaat ttggagaaga gatgatgaag agagcacttc
      361 agtattctcc gagtgctgga attccagagc ttttgtcctg gctaaaacag ttacaaataa
      421 aattgcataa tcctcctacc atccattacc cacccagtca aggacaaatg gatctatgtg
      481 tcacatctgg cagccaacaa ggtctttgta aggtgtttga aatgatcatt aatcctggag
      541 ataatgtcct cctagatgaa cctgcttatt caggaactct tcaaagtctg cacccactgg
      601 gctgcaacat tattaatgtt gccagtgatg aaagtgggat tgttccagat tccctaagag
      661 acatactttc cagatggaaa ccagaagatg caaagaatcc ccagaaaaac acccccaaat
      721 ttctttatac tgttccaaat ggcaacaacc ctactggaaa ctcattaacc agtgaacgca
      781 aaaaggaaat ctatgagctt gcaagaaaat atgatttcct cataatagaa gatgatcctt
      841 actattttct ccagtttaac aagttcaggg taccaacatt tctttccatg gatgttgatg
      901 gacgtgtcat cagagctgac tctttttcaa aaatcatttc ctctgggttg agaataggat
      961 ttttaactgg tccaaaaccc ttaatagaga gagttatttt acacatacaa gtttcaacat
     1021 tgcaccccag cacttttaac cagctcatga tatcacagct tctacacgaa tggggagaag
     1081 aaggtttcat ggctcatgta gacagggtta ttgatttcta tagtaaccag aaggatgcaa
     1141 tactggcagc tgcagacaag tggttaactg gtttggcaga atggcatgtt cctgctgctg
     1201 gaatgttttt atggattaaa gttaaaggca ttaatgatgt aaaagaactg attgaagaaa
     1261 aggccgttaa gatgggggta ttaatgctcc ctggaaatgc tttctacgtc gatagctcag
     1321 ctcctagccc ttacttgaga gcatccttct cttcagcttc tccagaacag atggatgtgg
     1381 ccttccaggt attagcacaa cttataaaag aatctttatg aagaaattaa actaggttgg
     1441 gcatggtggc tcacacctat aatcccagca ctttgggagg cagaggaggg aggatcactt
     1501 gaacccagga attcaaggct gcagtaagct acgatcacac cactgcactc tggcctgcat
     1561 gcactctggc ctgcatggca gaacaagacc ctgtctctaa aaaaagagaa agaaatcaaa
     1621 ctaatcatgc tgctcatgga tttttccaat aaatttcttg ttttggcagg aagaaatgaa
     1681 cactggtatt agacttaaag attaaatttc ctcaaacatg tcctatctgt agtagttcaa
     1741 ctagacacct tttaaagtgc ctctaaattc atcagatggc caaactgtat ttataatcca
     1801 cttaggcatt ttgaaaaact ttcaacctgt aaaaagttac ttttatcttg gatttattat
     1861 gaagaacttt gtagttgctt tgtaatttcc cataaattgt ctttgaaact aacattttac
     1921 actgaattat tttgagattt taaagaagta attaagtgca aaatggtata taatgtgtac
     1981 tttttctact tttaggaaaa tttaatgaga gcttattgca aaaattgtta taatttggtc
     2041 attataagtg acttttagta aaagtaccat aaaccttatg ttatgccaca gaaattcctt
     2101 taaaataaaa ttcttaaact aaacata
//
