LOCUS       NM_016228               2250 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens aminoadipate aminotransferase (AADAT), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_016228
VERSION     NM_016228.4
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 2250)
  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 2250)
  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 2250)
  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 2250)
  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 2250)
  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 2250)
  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 2250)
  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 2250)
  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 2250)
  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 2250)
  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 Nov 26, 2018 this sequence version replaced NM_016228.3.
            
            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 (1) differs in the 5' UTR and 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 :: AF481738.1, SRR1660807.13797.1
                                           [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                 :: ENST00000337664.9/
                                                  ENSP00000336808.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-333               AC084866.5         166467-166799       c
            334-502             AC084866.5         165239-165407       c
            503-635             AC084866.5         163959-164091       c
            636-710             AC084866.5         155352-155426       c
            711-920             AC084866.5         149979-150188       c
            921-986             AC084866.5         147430-147495       c
            987-1069            AC084866.5         145991-146073       c
            1070-1166           AC084866.5         145434-145530       c
            1167-1228           AC084866.5         144170-144231       c
            1229-1293           AC084866.5         143257-143321       c
            1294-1400           AC084866.5         141562-141668       c
            1401-1502           AC084866.5         138735-138836       c
            1503-2250           AC084866.5         137065-137812       c
FEATURES             Location/Qualifiers
     source          1..2250
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q33"
     gene            1..2250
                     /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..333
                     /gene="AADAT"
                     /gene_synonym="KAT2; KATII; KYAT2"
                     /inference="alignment:Splign:2.1.0"
     CDS             267..1544
                     /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 1;
                     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_057312.1"
                     /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            334..502
                     /gene="AADAT"
                     /gene_synonym="KAT2; KATII; KYAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            503..635
                     /gene="AADAT"
                     /gene_synonym="KAT2; KATII; KYAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            636..710
                     /gene="AADAT"
                     /gene_synonym="KAT2; KATII; KYAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            711..920
                     /gene="AADAT"
                     /gene_synonym="KAT2; KATII; KYAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            921..986
                     /gene="AADAT"
                     /gene_synonym="KAT2; KATII; KYAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            987..1069
                     /gene="AADAT"
                     /gene_synonym="KAT2; KATII; KYAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1070..1166
                     /gene="AADAT"
                     /gene_synonym="KAT2; KATII; KYAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1167..1228
                     /gene="AADAT"
                     /gene_synonym="KAT2; KATII; KYAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1229..1293
                     /gene="AADAT"
                     /gene_synonym="KAT2; KATII; KYAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1294..1400
                     /gene="AADAT"
                     /gene_synonym="KAT2; KATII; KYAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1401..1502
                     /gene="AADAT"
                     /gene_synonym="KAT2; KATII; KYAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1503..2250
                     /gene="AADAT"
                     /gene_synonym="KAT2; KATII; KYAT2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2227..2232
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AADAT"
                     /gene_synonym="KAT2; KATII; KYAT2"
                     /note="hexamer: AATAAA"
     polyA_site      2250
                     /gene="AADAT"
                     /gene_synonym="KAT2; KATII; KYAT2"
                     /note="major polyA site"
ORIGIN      
        1 aggagcgcgt gcggcgtgga ctttgccggg ctcgccacac agccccagac ccgtttagga
       61 ccgggagacc gaacgcagcg tccagccggg gagtttcggc ggcgttctcc gggcaccgcg
      121 cgcgggaagc cagacgcagc ggggggacac atctcgcggt ggcgttgcca gagtgaggag
      181 ttagcaggca ggacttgacg aggctctttg gtttttctag tcctcaacca ctgaagaaga
      241 agcttgatgc ttggctgtca gaagacatga attacgcacg gttcatcacg gcagcgagcg
      301 cagccagaaa cccttctccc atccggacca tgactgacat attgagcaga ggaccaaaat
      361 cgatgatctc cttggctggt ggcttaccaa atccaaacat gtttcctttt aagactgccg
      421 taatcactgt agaaaatgga aagaccatcc aatttggaga agagatgatg aagagagcac
      481 ttcagtattc tccgagtgct ggaattccag agcttttgtc ctggctaaaa cagttacaaa
      541 taaaattgca taatcctcct accatccatt acccacccag tcaaggacaa atggatctat
      601 gtgtcacatc tggcagccaa caaggtcttt gtaaggtgtt tgaaatgatc attaatcctg
      661 gagataatgt cctcctagat gaacctgctt attcaggaac tcttcaaagt ctgcacccac
      721 tgggctgcaa cattattaat gttgccagtg atgaaagtgg gattgttcca gattccctaa
      781 gagacatact ttccagatgg aaaccagaag atgcaaagaa tccccagaaa aacaccccca
      841 aatttcttta tactgttcca aatggcaaca accctactgg aaactcatta accagtgaac
      901 gcaaaaagga aatctatgag cttgcaagaa aatatgattt cctcataata gaagatgatc
      961 cttactattt tctccagttt aacaagttca gggtaccaac atttctttcc atggatgttg
     1021 atggacgtgt catcagagct gactcttttt caaaaatcat ttcctctggg ttgagaatag
     1081 gatttttaac tggtccaaaa cccttaatag agagagttat tttacacata caagtttcaa
     1141 cattgcaccc cagcactttt aaccagctca tgatatcaca gcttctacac gaatggggag
     1201 aagaaggttt catggctcat gtagacaggg ttattgattt ctatagtaac cagaaggatg
     1261 caatactggc agctgcagac aagtggttaa ctggtttggc agaatggcat gttcctgctg
     1321 ctggaatgtt tttatggatt aaagttaaag gcattaatga tgtaaaagaa ctgattgaag
     1381 aaaaggccgt taagatgggg gtattaatgc tccctggaaa tgctttctac gtcgatagct
     1441 cagctcctag cccttacttg agagcatcct tctcttcagc ttctccagaa cagatggatg
     1501 tggccttcca ggtattagca caacttataa aagaatcttt atgaagaaat taaactaggt
     1561 tgggcatggt ggctcacacc tataatccca gcactttggg aggcagagga gggaggatca
     1621 cttgaaccca ggaattcaag gctgcagtaa gctacgatca caccactgca ctctggcctg
     1681 catgcactct ggcctgcatg gcagaacaag accctgtctc taaaaaaaga gaaagaaatc
     1741 aaactaatca tgctgctcat ggatttttcc aataaatttc ttgttttggc aggaagaaat
     1801 gaacactggt attagactta aagattaaat ttcctcaaac atgtcctatc tgtagtagtt
     1861 caactagaca ccttttaaag tgcctctaaa ttcatcagat ggccaaactg tatttataat
     1921 ccacttaggc attttgaaaa actttcaacc tgtaaaaagt tacttttatc ttggatttat
     1981 tatgaagaac tttgtagttg ctttgtaatt tcccataaat tgtctttgaa actaacattt
     2041 tacactgaat tattttgaga ttttaaagaa gtaattaagt gcaaaatggt atataatgtg
     2101 tactttttct acttttagga aaatttaatg agagcttatt gcaaaaattg ttataatttg
     2161 gtcattataa gtgactttta gtaaaagtac cataaacctt atgttatgcc acagaaattc
     2221 ctttaaaata aaattcttaa actaaacata
//
