LOCUS       NM_004059               1971 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens kynurenine aminotransferase 1 (KYAT1), transcript
            variant 1, mRNA.
ACCESSION   NM_004059
VERSION     NM_004059.5
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 1971)
  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 1971)
  AUTHORS   Udupa,S., Nguyen,S., Hoang,G., Nguyen,T., Quinones,A., Pham,K.,
            Asaka,R., Nguyen,K., Zhang,C., Elgogary,A., Jung,J.G., Xu,Q.,
            Fu,J., Thomas,A.G., Tsukamoto,T., Hanes,J., Slusher,B.S.,
            Cooper,A.J.L. and Le,A.
  TITLE     Upregulation of the Glutaminase II Pathway Contributes to Glutamate
            Production upon Glutaminase 1 Inhibition in Pancreatic Cancer
  JOURNAL   Proteomics 19 (21-22), e1800451 (2019)
   PUBMED   31231915
  REMARK    GeneRIF: genetic suppression of glutamine transaminase K (GTK), a
            key enzyme of the glutaminase II pathway, leads to the complete
            inhibition of pancreatic tumorigenesis in vivo unveiling GTK as a
            new metabolic target for cancer therapy
REFERENCE   3  (bases 1 to 1971)
  AUTHORS   Chen,S., Fragoza,R., Klei,L., Liu,Y., Wang,J., Roeder,K., Devlin,B.
            and Yu,H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   4  (bases 1 to 1971)
  AUTHORS   Matysik-Wozniak,A., Junemann,A., Turski,W.A., Wnorowski,A.,
            Jozwiak,K., Paduch,R., Okuno,E., Moneta-Wielgos,J.,
            Choragiewicz,T., Maciejewski,R. and Rejdak,R.
  TITLE     The presence of kynurenine aminotransferases in the human cornea:
            Evidence from bioinformatics analysis of gene expression and
            immunohistochemical staining
  JOURNAL   Mol Vis 23, 364-371 (2017)
   PUBMED   28706436
  REMARK    GeneRIF: Immunohistochemical analysis revealed the presence of KAT
            I, II, and III in all examined corneal sections.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1971)
  AUTHORS   Shin,S.Y., Fauman,E.B., Petersen,A.K., Krumsiek,J., Santos,R.,
            Huang,J., Arnold,M., Erte,I., Forgetta,V., Yang,T.P., Walter,K.,
            Menni,C., Chen,L., Vasquez,L., Valdes,A.M., Hyde,C.L., Wang,V.,
            Ziemek,D., Roberts,P., Xi,L., Grundberg,E., Waldenberger,M.,
            Richards,J.B., Mohney,R.P., Milburn,M.V., John,S.L., Trimmer,J.,
            Theis,F.J., Overington,J.P., Suhre,K., Brosnan,M.J., Gieger,C.,
            Kastenmuller,G., Spector,T.D. and Soranzo,N.
  CONSRTM   Multiple Tissue Human Expression Resource (MuTHER) Consortium
  TITLE     An atlas of genetic influences on human blood metabolites
  JOURNAL   Nat Genet 46 (6), 543-550 (2014)
   PUBMED   24816252
REFERENCE   6  (bases 1 to 1971)
  AUTHORS   Iyer,R.A. and Anders,M.W.
  TITLE     Cysteine conjugate beta-lyase-dependent biotransformation of the
            cysteine S-conjugates of the sevoflurane degradation product
            compound A in human, nonhuman primate, and rat kidney cytosol and
            mitochondria
  JOURNAL   Anesthesiology 85 (6), 1454-1461 (1996)
   PUBMED   8968194
REFERENCE   7  (bases 1 to 1971)
  AUTHORS   Goldfarb,P., Perry,S., Harries,H., Scholfield,C., Lock,T., King,L.
            and Gibson,G.
  TITLE     Molecular cloning and expression of cDNAs for rat and human kidney
            cysteine conjugate beta-lyase
  JOURNAL   Biochem Soc Trans 24 (2), 330S (1996)
   PUBMED   8736988
REFERENCE   8  (bases 1 to 1971)
  AUTHORS   Perry,S., Harries,H., Scholfield,C., Lock,T., King,L., Gibson,G.
            and Goldfarb,P.
  TITLE     Molecular cloning and expression of a cDNA for human kidney
            cysteine conjugate beta-lyase
  JOURNAL   FEBS Lett 360 (3), 277-280 (1995)
   PUBMED   7883047
REFERENCE   9  (bases 1 to 1971)
  AUTHORS   Baran,H., Okuno,E., Kido,R. and Schwarcz,R.
  TITLE     Purification and characterization of kynurenine aminotransferase I
            from human brain
  JOURNAL   J Neurochem 62 (2), 730-738 (1994)
   PUBMED   8294935
REFERENCE   10 (bases 1 to 1971)
  AUTHORS   Lash,L.H., Nelson,R.M., Van Dyke,R.A. and Anders,M.W.
  TITLE     Purification and characterization of human kidney cytosolic
            cysteine conjugate beta-lyase activity
  JOURNAL   Drug Metab Dispos 18 (1), 50-54 (1990)
   PUBMED   2139845
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA381449.1, BI755163.1,
            X82224.1 and AL441992.17.
            
            On Nov 22, 2018 this sequence version replaced NM_004059.4.
            
            Summary: This gene encodes a cytosolic enzyme that is responsible
            for the metabolism of cysteine conjugates of certain halogenated
            alkenes and alkanes. This metabolism can form reactive metabolites
            leading to nephrotoxicity and neurotoxicity. Increased levels of
            this enzyme have been linked to schizophrenia. Multiple transcript
            variants that encode different isoforms have been identified for
            this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the isoform a.
            Variants 1, 2, and 6-11 all encode the same isoform (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The extent of this transcript is
            supported by transcript alignments.
            
            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 :: SRR1803616.49458.1,
                                           SRR1803613.223607.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000302586.8/ ENSP00000302227.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-21                DA381449.1         126-146
            22-60               BI755163.1         1-39
            61-1388             X82224.1           1-1328
            1389-1800           AL441992.17        133699-134110       c
            1801-1971           AL441992.17        133528-133698       c
FEATURES             Location/Qualifiers
     source          1..1971
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     gene            1..1971
                     /gene="KYAT1"
                     /gene_synonym="CCBL1; GTK; KAT1; KATI"
                     /note="kynurenine aminotransferase 1"
                     /db_xref="GeneID:883"
                     /db_xref="HGNC:HGNC:1564"
                     /db_xref="MIM:600547"
     exon            1..54
                     /gene="KYAT1"
                     /gene_synonym="CCBL1; GTK; KAT1; KATI"
                     /inference="alignment:Splign:2.1.0"
     exon            55..113
                     /gene="KYAT1"
                     /gene_synonym="CCBL1; GTK; KAT1; KATI"
                     /inference="alignment:Splign:2.1.0"
     CDS             61..1329
                     /gene="KYAT1"
                     /gene_synonym="CCBL1; GTK; KAT1; KATI"
                     /EC_number="2.6.1.64"
                     /EC_number="2.6.1.7"
                     /EC_number="4.4.1.13"
                     /note="isoform a is encoded by transcript variant 1;
                     glutamine-phenylpyruvate aminotransferase; glutamine
                     transaminase K; kyneurenine aminotransferase; cysteine
                     conjugate-beta lyase; cytoplasmic (glutamine transaminase
                     K, kyneurenine aminotransferase); beta-lysase, kidney;
                     kynurenine aminotransferase I; kynurenine--oxoglutarate
                     transaminase 1; cysteine-S-conjugate beta-lyase;
                     glutamine--phenylpyruvate transaminase;
                     kynurenine--oxoglutarate transaminase I; cysteine
                     conjugate-beta lyase, cytoplasmic; cysteine conjugate beta
                     lyase 1"
                     /codon_start=1
                     /product="kynurenine--oxoglutarate transaminase 1 isoform
                     a"
                     /protein_id="NP_004050.3"
                     /db_xref="CCDS:CCDS43884.1"
                     /db_xref="GeneID:883"
                     /db_xref="HGNC:HGNC:1564"
                     /db_xref="MIM:600547"
                     /translation="MAKQLQARRLDGIDYNPWVEFVKLASEHDVVNLGQGFPDFPPPD
                     FAVEAFQHAVSGDFMLNQYTKTFGYPPLTKILASFFGELLGQEIDPLRNVLVTVGGYG
                     ALFTAFQALVDEGDEVIIIEPFFDCYEPMTMMAGGRPVFVSLKPGPIQNGELGSSSNW
                     QLDPMELAGKFTSRTKALVLNTPNNPLGKVFSREELELVASLCQQHDVVCITDEVYQW
                     MVYDGHQHISIASLPGMWERTLTIGSAGKTFSATGWKVGWVLGPDHIMKHLRTVHQNS
                     VFHCPTQSQAAVAESFEREQLLFRQPSSYFVQFPQAMQRCRDHMIRSLQSVGLKPIIP
                     QGSYFLITDISDFKRKMPDLPGAVDEPYDRRFVKWMIKNKGLVAIPVSIFYSVPHQKH
                     FDHYIRFCFVKDEATLQAMDEKLRKWKVEL"
     exon            114..261
                     /gene="KYAT1"
                     /gene_synonym="CCBL1; GTK; KAT1; KATI"
                     /inference="alignment:Splign:2.1.0"
     exon            262..411
                     /gene="KYAT1"
                     /gene_synonym="CCBL1; GTK; KAT1; KATI"
                     /inference="alignment:Splign:2.1.0"
     exon            412..498
                     /gene="KYAT1"
                     /gene_synonym="CCBL1; GTK; KAT1; KATI"
                     /inference="alignment:Splign:2.1.0"
     exon            499..627
                     /gene="KYAT1"
                     /gene_synonym="CCBL1; GTK; KAT1; KATI"
                     /inference="alignment:Splign:2.1.0"
     exon            628..748
                     /gene="KYAT1"
                     /gene_synonym="CCBL1; GTK; KAT1; KATI"
                     /inference="alignment:Splign:2.1.0"
     exon            749..825
                     /gene="KYAT1"
                     /gene_synonym="CCBL1; GTK; KAT1; KATI"
                     /inference="alignment:Splign:2.1.0"
     exon            826..915
                     /gene="KYAT1"
                     /gene_synonym="CCBL1; GTK; KAT1; KATI"
                     /inference="alignment:Splign:2.1.0"
     exon            916..1102
                     /gene="KYAT1"
                     /gene_synonym="CCBL1; GTK; KAT1; KATI"
                     /inference="alignment:Splign:2.1.0"
     exon            1103..1182
                     /gene="KYAT1"
                     /gene_synonym="CCBL1; GTK; KAT1; KATI"
                     /inference="alignment:Splign:2.1.0"
     exon            1183..1269
                     /gene="KYAT1"
                     /gene_synonym="CCBL1; GTK; KAT1; KATI"
                     /inference="alignment:Splign:2.1.0"
     exon            1270..1971
                     /gene="KYAT1"
                     /gene_synonym="CCBL1; GTK; KAT1; KATI"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1771..1776
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KYAT1"
                     /gene_synonym="CCBL1; GTK; KAT1; KATI"
                     /note="hexamer: AATAAA"
     polyA_site      1800
                     /gene="KYAT1"
                     /gene_synonym="CCBL1; GTK; KAT1; KATI"
                     /note="major polyA site"
     regulatory      1952..1957
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KYAT1"
                     /gene_synonym="CCBL1; GTK; KAT1; KATI"
                     /note="hexamer: AATGAA"
     polyA_site      1971
                     /gene="KYAT1"
                     /gene_synonym="CCBL1; GTK; KAT1; KATI"
ORIGIN      
        1 gctgcaacct acggggtgta cttgggaacg aggggtgaag cggcccaggt gaggctcgcc
       61 atggccaaac agctgcaggc ccgaaggcta gacgggatcg actacaaccc ctgggtggag
      121 tttgtgaaac tggccagtga gcatgacgtc gtgaacttgg gccagggctt cccggatttc
      181 ccaccaccag actttgccgt ggaagccttt cagcacgctg tcagtggaga cttcatgctt
      241 aaccagtaca ccaagacatt tggttaccca ccactgacga agatcctggc aagtttcttt
      301 ggggagctgc tgggtcagga gatagacccg ctcaggaatg tgctggtgac tgttggtggc
      361 tatggggccc tgttcacagc cttccaggcc ctggtggacg aaggagacga ggtcatcatc
      421 atcgaaccct tttttgactg ctacgagccc atgacaatga tggcaggggg tcgtcctgtg
      481 tttgtgtccc tgaagccggg tcccatccag aatggagaac tgggttccag cagcaactgg
      541 cagctggacc ccatggagct ggccggcaaa ttcacatcac gcaccaaagc cctggtcctc
      601 aacaccccca acaaccccct gggcaaggtg ttctccaggg aagagctgga gctggtggcc
      661 agcctttgcc agcagcatga cgtggtgtgt atcactgatg aagtctacca gtggatggtc
      721 tacgacgggc accagcacat cagcattgcc agcctccctg gcatgtggga acggaccctg
      781 accatcggca gcgccggcaa gaccttcagc gccactggct ggaaggtggg ctgggtcctg
      841 ggtccagatc acatcatgaa gcacctgcgg accgtgcacc agaactccgt cttccactgc
      901 cccacgcaga gccaggctgc agtagccgag agctttgaac gggagcagct gctcttccgc
      961 caacccagca gctactttgt gcagttcccg caggccatgc agcgctgccg tgaccacatg
     1021 atacgtagcc tacagtcagt gggcctgaag cccatcatcc ctcagggcag ctacttcctc
     1081 atcacagaca tctcagactt caagaggaag atgcctgact tgcctggagc tgtggatgag
     1141 ccctatgaca gacgcttcgt caagtggatg atcaagaaca agggcttggt ggccatccct
     1201 gtctccatct tctatagtgt gccacatcag aagcactttg accactatat ccgcttctgt
     1261 tttgtgaagg atgaagccac gctccaggcc atggacgaga agctgcggaa gtggaaggtg
     1321 gaactctagc cctgaagtca cgccttggcc ctgacatccc cacatgcccg cagagatcct
     1381 ctttgagtgt ctgtctttgt ccaggtttca gacatttcta ggttggggaa gatgctattg
     1441 ggaaacctct tctccgtgac acagaatgtt ctgggtggga gccgcccttc ttcatcttag
     1501 agaaccaagt gcctcctgtc tgaaaggtga gggtggcctg acctgggcct ctccctgccc
     1561 ctccataggt gggtttgtag ggtcttgtgt tgcttctggt ctctccaggc ttggctgaga
     1621 cggacggtag acttccacca tgtaccgatc acatcccagc tctgcatggc ccctgctaag
     1681 gctcaggtat aacctcacct tccctggctc atcttggcct tggggagttg cctttaggct
     1741 tgagtcctca agcctctcct tttcgtccat aataaaatgt ttaagttatt aagatcctta
     1801 ttgacggctt ctctctgctt cacactcatg ctgatggctg atctaacttg tgaagaatgc
     1861 ccagaagaac ctcagacacc cccacaactt tgtacaaatg gttactgtag tcacatagtg
     1921 gcacaaccag gcctagcacc caaggccctc aaatgaattc ctcactatta a
//
