LOCUS       NM_000353               3945 bp    mRNA    linear   PRI 28-OCT-2024
DEFINITION  Homo sapiens tyrosine aminotransferase (TAT), mRNA.
ACCESSION   NM_000353
VERSION     NM_000353.3
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 3945)
  AUTHORS   Wu,Z., Zhang,J., Jia,Z., Yang,Z., Liu,S., Wang,H., Zhao,C.,
            Zhao,J., Tang,Q., Xiong,Y., Yang,Y., Zhang,Y., Zhou,Z., Yue,J.,
            Xiao,F., Sun,Q., Gong,A., Yao,W., Li,H., Song,X., Ye,Y., Zhu,Y.,
            Dong,P., Ma,F., Wu,X. and Gong,W.
  TITLE     TRIM21-mediated ubiquitylation of TAT suppresses liver metastasis
            in gallbladder cancer
  JOURNAL   Cancer Lett 592, 216923 (2024)
   PUBMED   38697462
  REMARK    GeneRIF: TRIM21-mediated ubiquitylation of TAT suppresses liver
            metastasis in gallbladder cancer.
REFERENCE   2  (bases 1 to 3945)
  AUTHORS   Giacoletto,C.J., Benjamin,R., Deng,H.W., Rotter,J.I. and
            Schiller,M.R.
  TITLE     Most synonymous allelic variants in HIV tat are not silent
  JOURNAL   Genomics 115 (3), 110603 (2023)
   PUBMED   36893872
  REMARK    GeneRIF: Most synonymous allelic variants in HIV tat are not
            silent.
REFERENCE   3  (bases 1 to 3945)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 3945)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 3945)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3945)
  AUTHORS   Bayzaei,Z., Dehghani,S.M. and Geramizadeh,B.
  TITLE     Tyrosinemia Type II
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   39446998
REFERENCE   7  (bases 1 to 3945)
  AUTHORS   Natt,E., Kida,K., Odievre,M., Di Rocco,M. and Scherer,G.
  TITLE     Point mutations in the tyrosine aminotransferase gene in
            tyrosinemia type II
  JOURNAL   Proc Natl Acad Sci U S A 89 (19), 9297-9301 (1992)
   PUBMED   1357662
REFERENCE   8  (bases 1 to 3945)
  AUTHORS   Chitayat,D., Balbul,A., Hani,V., Mamer,O.A., Clow,C. and
            Scriver,C.R.
  TITLE     Hereditary tyrosinaemia type II in a consanguineous Ashkenazi
            Jewish family: intrafamilial variation in phenotype; absence of
            parental phenotype effects on the fetus
  JOURNAL   J Inherit Metab Dis 15 (2), 198-203 (1992)
   PUBMED   1356171
REFERENCE   9  (bases 1 to 3945)
  AUTHORS   Rettenmeier,R., Natt,E., Zentgraf,H. and Scherer,G.
  TITLE     Isolation and characterization of the human tyrosine
            aminotransferase gene
  JOURNAL   Nucleic Acids Res 18 (13), 3853-3861 (1990)
   PUBMED   1973834
REFERENCE   10 (bases 1 to 3945)
  AUTHORS   Natt,E., Kao,F.T., Rettenmeier,R. and Scherer,G.
  TITLE     Assignment of the human tyrosine aminotransferase gene to
            chromosome 16
  JOURNAL   Hum Genet 72 (3), 225-228 (1986)
   PUBMED   2870018
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010547.9.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000353.2.
            
            Summary: This nuclear gene encodes a mitochondrial protein tyrosine
            aminotransferase which is present in the liver and catalyzes the
            conversion of L-tyrosine into p-hydroxyphenylpyruvate. Mutations in
            this gene cause tyrosinemia (type II, Richner-Hanhart syndrome), a
            disorder accompanied by major skin and corneal lesions, with
            possible cognitive disability. A regulator gene for tyrosine
            aminotransferase is X-linked. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: X52520.1, HM005657.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN04284274 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000355962.5/
                                                  ENSP00000348234.4
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-84                AC010547.9         182936-183019       c
            85-331              AC010547.9         182108-182354       c
            332-436             AC010547.9         181849-181953       c
            437-504             AC010547.9         179466-179533       c
            505-663             AC010547.9         178457-178615       c
            664-802             AC010547.9         178113-178251       c
            803-855             AC010547.9         177533-177585       c
            856-1008            AC010547.9         176606-176758       c
            1009-1137           AC010547.9         176196-176324       c
            1138-1221           AC010547.9         175781-175864       c
            1222-1320           AC010547.9         174638-174736       c
            1321-2754           AC010547.9         172778-174211       c
            2755-3945           AC010547.9         171587-172777       c
FEATURES             Location/Qualifiers
     source          1..3945
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.2"
     gene            1..3945
                     /gene="TAT"
                     /note="tyrosine aminotransferase"
                     /db_xref="GeneID:6898"
                     /db_xref="HGNC:HGNC:11573"
                     /db_xref="MIM:613018"
     exon            1..84
                     /gene="TAT"
                     /inference="alignment:Splign:2.1.0"
     exon            85..331
                     /gene="TAT"
                     /inference="alignment:Splign:2.1.0"
     CDS             97..1461
                     /gene="TAT"
                     /EC_number="2.6.1.5"
                     /note="tyrosine aminotransferase, cytosolic;
                     L-tyrosine:2-oxoglutarate aminotransferase; testis tissue
                     sperm-binding protein Li 34a"
                     /codon_start=1
                     /product="tyrosine aminotransferase"
                     /protein_id="NP_000344.1"
                     /db_xref="CCDS:CCDS10903.1"
                     /db_xref="GeneID:6898"
                     /db_xref="HGNC:HGNC:11573"
                     /db_xref="MIM:613018"
                     /translation="MDPYMIQMSSKGNLPSILDVHVNVGGRSSVPGKMKGRKARWSVR
                     PSDMAKKTFNPIRAIVDNMKVKPNPNKTMISLSIGDPTVFGNLPTDPEVTQAMKDALD
                     SGKYNGYAPSIGFLSSREEIASYYHCPEAPLEAKDVILTSGCSQAIDLCLAVLANPGQ
                     NILVPRPGFSLYKTLAESMGIEVKLYNLLPEKSWEIDLKQLEYLIDEKTACLIVNNPS
                     NPCGSVFSKRHLQKILAVAARQCVPILADEIYGDMVFSDCKYEPLATLSTDVPILSCG
                     GLAKRWLVPGWRLGWILIHDRRDIFGNEIRDGLVKLSQRILGPCTIVQGALKSILCRT
                     PGEFYHNTLSFLKSNADLCYGALAAIPGLRPVRPSGAMYLMVGIEMEHFPEFENDVEF
                     TERLVAEQSVHCLPATCFEYPNFIRVVITVPEVMMLEACSRIQEFCEQHYHCAEGSQE
                     ECDK"
     exon            332..436
                     /gene="TAT"
                     /inference="alignment:Splign:2.1.0"
     exon            437..504
                     /gene="TAT"
                     /inference="alignment:Splign:2.1.0"
     exon            505..663
                     /gene="TAT"
                     /inference="alignment:Splign:2.1.0"
     exon            664..802
                     /gene="TAT"
                     /inference="alignment:Splign:2.1.0"
     exon            803..855
                     /gene="TAT"
                     /inference="alignment:Splign:2.1.0"
     exon            856..1008
                     /gene="TAT"
                     /inference="alignment:Splign:2.1.0"
     exon            1009..1137
                     /gene="TAT"
                     /inference="alignment:Splign:2.1.0"
     exon            1138..1221
                     /gene="TAT"
                     /inference="alignment:Splign:2.1.0"
     exon            1222..1320
                     /gene="TAT"
                     /inference="alignment:Splign:2.1.0"
     exon            1321..3945
                     /gene="TAT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2069..2074
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TAT"
                     /note="hexamer: AATAAA"
     polyA_site      2088
                     /gene="TAT"
                     /note="major polyA site"
     regulatory      3921..3926
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TAT"
                     /note="hexamer: AATAAA"
     polyA_site      3945
                     /gene="TAT"
                     /note="major polyA site"
ORIGIN      
        1 attgcccctg taacctgtca aagaagagct aagggagctt tcggggttgg cttcttggag
       61 gctgctttct cctttacttg gaaggcttcg ctagtgatgg acccatacat gattcagatg
      121 agcagcaaag gcaacctccc ctcaattctg gacgtgcatg tcaacgttgg tgggagaagc
      181 tctgtgccgg gaaaaatgaa aggcagaaag gccaggtggt ctgtgaggcc ctcagacatg
      241 gccaagaaaa ctttcaaccc catccgagcc attgtggaca acatgaaggt gaaaccaaat
      301 ccaaacaaaa ccatgatttc cctgtccatt ggggacccta ctgtgtttgg aaacctgcct
      361 acagaccctg aagttaccca ggcaatgaaa gatgccctgg actcgggcaa atataatggc
      421 tatgccccat ccatcggctt cctatccagt cgggaggaga ttgcttctta ttaccactgt
      481 cctgaggcac ccctagaagc taaggacgtc attctgacaa gtggctgcag ccaagctatt
      541 gacctttgtt tagctgtgtt ggccaaccca gggcaaaaca tcctggttcc aagacctggt
      601 ttctctctct acaagactct ggctgagtct atgggaattg aggtcaaact ctacaatttg
      661 ttgccagaga aatcttggga aattgacctg aaacaactgg aatatctaat tgatgaaaag
      721 acagcttgtc tcattgtcaa taatccatca aacccctgtg ggtcagtgtt cagcaaacgt
      781 catcttcaga agattctggc agtggctgca cggcagtgtg tccccatctt agctgatgag
      841 atctatggag acatggtgtt ttcggattgc aaatatgaac cactggccac cctcagcacc
      901 gatgtcccca tcctgtcctg tggagggctg gccaagcgct ggctggttcc tggctggagg
      961 ttgggctgga tcctcattca tgaccgaaga gacatttttg gcaatgagat ccgagatggg
     1021 ctggtgaagc tgagtcagcg cattttggga ccctgtacca ttgtccaggg agctctgaaa
     1081 agcatcctat gtcgcacccc gggagagttt taccacaaca ctctgagctt cctcaagtcc
     1141 aatgctgatc tctgttatgg ggcgttggct gccatccctg gactccggcc agtccgccct
     1201 tctggggcta tgtacctcat ggttggaatt gagatggaac atttcccaga atttgagaac
     1261 gatgtggagt tcacggagcg gttagttgct gagcagtctg tccactgcct cccagcaacg
     1321 tgctttgagt acccgaattt catccgagtg gtcatcacag tccccgaggt gatgatgctg
     1381 gaggcgtgca gccggatcca ggagttctgt gagcagcact accattgtgc tgaaggcagc
     1441 caggaggagt gtgataaata ggcctgcatc cattctcctg aggatgtgtc ccatctaggg
     1501 aaggctggac taggccttgc ggctcctcag ggactcaggt ggccctactg ggagaggggc
     1561 ctcaaatgca ccatgtcaag ggttcaagat tgttcctgct tttccccaag tacaaccaca
     1621 cccacactca gatcctcctc attcacatcg cagattctcc cttgctctgc gctgctagag
     1681 tgactcacta attcattaat ctgcctccct ctcgtaagat ttccttcttt ttttcttgaa
     1741 agtaccaggt gaacaaagtt taccagaaag cagttgagac aagaaaataa gagctcagga
     1801 tgagggaaaa gaaaaagatt gagagaattt gtgcccccaa ccatttcctc agactctaag
     1861 aaagaacacg ctctctccag gcaggtctga agctcaactc tcttattgcc tcacttcagg
     1921 tatacctcac tttacacaat agaattataa ctggaaagaa gttggggaca catgtatttg
     1981 gtgattacat tttaaacaca ttaggaaaag ttgctatttg aactttttat tgatttttgg
     2041 ggggagtaaa gaattatttt gtgatgcaaa taaatatcct ttaattgatc gacttgccaa
     2101 atttagattt gtgtgcatca ggctttcttt tttttctttt tttagagaag ttcaatataa
     2161 gcttttcttt tctttgtttc tttctttctt tattttgaga tggagtcttg ctctgtcgcc
     2221 catgctggag tgcagtggcg cgatctcggc tcactgcaac ctccacctcc tgggttcaag
     2281 cgattctctt gcctcaacct cccaagcagt tgggactaca ggcgtgagcc accatgcccg
     2341 gctaattttt gtatttttag tagagacagg gtttcaccat gttagccagg ctggtctcaa
     2401 actcctgacc tcaggcaatc tgcccgcctg ggtctcctaa agtactggga ttacaggcgt
     2461 gagccacctc gcccagcggc atcaggcttt cttaaagtga gagcacgcct gtactagagc
     2521 aagcaggaat cagagacctt ccagaaatac tactgtgtaa gggccagaaa tatcttcact
     2581 tgtcattgtt atataatcat tattactttt gctgtaatgt taatattgat ttattaatat
     2641 atattatctt ttcatacatt ttctaagaaa catttatatt gataagatct tttattttgc
     2701 caagggcata aattattgtt tttctttttt tttttttaat aaatttcacc aagtatggct
     2761 cttctgtgat gtgttttttt ctccgtttgg gaatttctaa tcccaggcac tcctcagtct
     2821 cattgtttca ttacctatga ggtttcattt acttctttgt aaatgtactg acttttggag
     2881 ttacttaaga accacagttc ctaaaacatt ttatttggga gctcaacttc tggcttccta
     2941 cttaccaaga ggcagtaagt tataacctct ggcctttgtc tttacatttt caactttctg
     3001 gatccctaac ctctggtccc aagttactac gcttgcctat atccactaac cactcactag
     3061 gtcacaaagt tgatggctct ggcttgaccc agtgaatgag aagtgtccta gatgtttttt
     3121 tttttttttt tttttcgcaa atcttcatag gcacagttgc ctgtttaatt ttttcttcag
     3181 cccttccctt agaggaggga gccttaagtt acctttcaag gttgggggtt aggaatctat
     3241 cataactagt ctagagattt ctcaccaagg gaaattttcc ttatctaaaa gaggaacttc
     3301 aggtctcaac cctgccagtc acacccaatt aatgtccttc acaaaaataa acagcatatg
     3361 ttccctttca atttgagttc agtgagctca cagcaaaatt taccttttaa ttttcttcag
     3421 caaatccaag acgaatatac aaaggatgag attagataaa gatttcagtt tcccgtatgc
     3481 caccgctgcc gccaattttc caaaaaagcc tggctcctct tttcctgttc ctccatccaa
     3541 gcccccaaag atctctaacc agaaataaac aggaagactc agtgatttac aaaagacatt
     3601 ttagttttac acgtacagaa aattctaccc agcattacag aattcttaga cttcttaaat
     3661 tcctgatttt ccttggtatt tacattttga taagggagcc aatggttctt caaacatttg
     3721 aaaagaacac atacacactg gacaatttca aacgatacaa acaaacgcaa ctgtccttct
     3781 ttctcattcc tgtccttcag ccacccagtt tcttctcccc tgagggaatc agttatcatt
     3841 tgctggtcat acttccagat tatactgtgc ctatgtaagt gtgtgtgtgt gtgtgtgtgt
     3901 gtgcactttt cattttttca aataaagtat tactcaactt tgtaa
//
