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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TAT Gene

protein-coding   GIFtS: 64
GCID: GC16M071599

Tyrosine Aminotransferase

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Tyrosine Aminotransferase1 2
L-Tyrosine:2-Oxoglutarate Aminotransferase2 3
EC 2.6.1.53 8
Tyrosine Aminotransferase, Cytosolic2

External Ids:    HGNC: 115731   Entrez Gene: 68982   Ensembl: ENSG000001986507   OMIM: 6130185   UniProtKB: P177353   

Export aliases for TAT gene to outside databases

Previous GC identifers: GC16M062492 GC16M072323 GC16M071336 GC16M071376 GC16M070158 GC16M057368


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TAT Gene:
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
mental retardation. A regulator gene for tyrosine aminotransferase is X-linked. (provided by RefSeq, Jul 2008)

GeneCards Summary for TAT Gene: 
TAT (tyrosine aminotransferase) is a protein-coding gene. Diseases associated with TAT include tyrosinemia type ii, and hanhart syndrome, and among its related super-pathways are Phenylalanine and tyrosine catabolism and Metabolic pathways. GO annotations related to this gene include L-phenylalanine:2-oxoglutarate aminotransferase activity and pyridoxal phosphate binding. An important paralog of this gene is CCBL1.

UniProtKB/Swiss-Prot: ATTY_HUMAN, P17735
Function: Transaminase involved in tyrosine breakdown. Converts tyrosine to p-hydroxyphenylpyruvate. Can catalyze
the reverse reaction, using glutamic acid, with 2-oxoglutarate as cosubstrate (in vitro). Has much lower affinity
and transaminase activity towards phenylalanine




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.2  NT_010498.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TAT gene promoter:
         TBP   Sp1   AP-1   ATF-2   YY1   E2F   c-Jun   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTAT promoter sequence
   Search SABiosciences Chromatin IP Primers for TAT

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TAT


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q22.1   Ensembl cytogenetic band:  16q22.2   HGNC cytogenetic band: 16q22.1

TAT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TAT gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M071599:  view genomic region     (about GC identifiers)

Start:
71,599,563 bp from pter      End:
71,611,033 bp from pter
Size:
11,471 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ATTY_HUMAN, P17735 (See protein sequence)
Recommended Name: Tyrosine aminotransferase  
Size: 454 amino acids; 50399 Da
Cofactor: Pyridoxal phosphate
Subunit: Homodimer (Probable)
1 PDB 3D structure from and Proteopedia for TAT:
3DYD (3D)    
Secondary accessions: B2R8I1 D3DWS2

Explore the universe of human proteins at neXtProt for TAT: NX_P17735

Explore proteomics data for TAT at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P17735

  • 4/5 DME Specific Peptides for TAT (P17735) (see all 5)
     KLSQRILGPCT  VPILSCGGLAKRWLVPGWR  GWILIHDRRDIFGNEIRDGL  PSGAMYLMVGIEMEHFPEFENDVEFTE 

    TAT Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TAT Protein Expression
    REFSEQ proteins: NP_000344.1  
    ENSEMBL proteins: 
     ENSP00000348234  
    Reactome Protein details: P17735
    Human Recombinant Protein Products for TAT: 
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    Cloud-Clone Corp. Proteins for TAT 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005739mitochondrion IEA--
    GO:0005829cytosol TAS--

    TAT for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/9 InterPro protein domains (see all 9):
     IPR004839 Aminotransferase_I/II
     IPR015424 PyrdxlP-dep_Trfase
     IPR021178 Tyrosine_transaminase
     IPR004838 NHTrfase_class1_PyrdxlP-BS
     IPR005958 TyrNic_aminoTrfase

    Graphical View of Domain Structure for InterPro Entry P17735

    ProtoNet protein and cluster: P17735

    2 Blocks protein domains:
    IPB004839 Aminotransferase
    IPB011715 Tyrosine aminotransferase ubiquitination region


    UniProtKB/Swiss-Prot: ATTY_HUMAN, P17735
    Similarity: Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family


    TAT for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ATTY_HUMAN, P17735
    Function: Transaminase involved in tyrosine breakdown. Converts tyrosine to p-hydroxyphenylpyruvate. Can catalyze
    the reverse reaction, using glutamic acid, with 2-oxoglutarate as cosubstrate (in vitro). Has much lower affinity
    and transaminase activity towards phenylalanine
    Catalytic activity: L-tyrosine + 2-oxoglutarate = 4-hydroxyphenylpyruvate + L-glutamate

         Genatlas biochemistry entry for TAT:
    tyrosine aminotransferase,catalyzing the first step of tyrosine catabolism

         Enzyme Number (IUBMB): EC 2.6.1.51 2

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004838L-tyrosine:2-oxoglutarate aminotransferase activity TAS--
    GO:0008483transaminase activity ----
    GO:0016597amino acid binding IEA--
    GO:0016829lyase activity ----
    GO:0030170pyridoxal phosphate binding IEA--
         
    TAT for ontologies           About GeneDecksing


    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidTAT 3' UTR sequence
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TAT About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1tyrosine degradation I
    tyrosine degradation I0.56
    Phenylalanine and tyrosine catabolism0.56
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    34-hydroxybenzoate biosynthesis
    4-hydroxyphenylpyruvate biosynthesis1.00
    4-hydroxybenzoate biosynthesis1.00
    4Phenylalanine metabolism
    Phenylalanine metabolism0.36
    Tyrosine metabolism0.36
    5Ubiquinone and other terpenoid-quinone biosynthesis
    Ubiquinone and other terpenoid-quinone biosynthesis0.42

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for TAT
        tyrosine degradation I
    FOXA2 and FOXA3 transcription factor networks
    4-hydroxybenzoate biosynthesis
    4-hydroxyphenylpyruvate biosynthesis

    3        Reactome Pathways for TAT
        Phenylalanine and tyrosine catabolism
    Metabolism
    Metabolism of amino acids and derivatives


    5/7         Kegg Pathways  (Kegg details for TAT) (see all 7):
        Ubiquinone and other terpenoid-quinone biosynthesis
    Cysteine and methionine metabolism
    Tyrosine metabolism
    Phenylalanine metabolism
    Phenylalanine, tyrosine and tryptophan biosynthesis

    UniProtKB/Swiss-Prot: ATTY_HUMAN, P17735
    Pathway: Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step
    2/6


    TAT for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TAT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/43 Interacting proteins for TAT (P177353 ENSP000003482344) via UniProtKB, MINT, STRING, and/or I2D (see all 43)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    EHMT2Q96KQ73I2D: score=1 
    ENSG00000206376Q96KQ73I2D: score=1 
    ENSG00000227333Q96KQ73I2D: score=1 
    ENSG00000232045Q96KQ73I2D: score=1 
    ENSG00000236759Q96KQ73I2D: score=1 
    About this table

    Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00061032-oxoglutarate metabolic process IDA7999802
    GO:0006520cellular amino acid metabolic process ----
    GO:0006536glutamate metabolic process IDA7999802
    GO:0006559L-phenylalanine catabolic process TAS--
    GO:0006572tyrosine catabolic process NAS--

    TAT for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TAT for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for TAT (ATTY)

    10 HMDB Compounds for TAT    About this table
    CompoundSynonyms CAS #PubMed Ids
    2-Oxo-4-methylthiobutanoic acid2-Oxo-4-methylthiobutanoate (see all 17)583-92-6--
    4-Hydroxyphenylpyruvic acid(p-Hydroxyphenyl)pyruvate (see all 25)156-39-8--
    FamotidineAmfamox (see all 83)76824-35-6--
    L-Glutamic acid(2S)-2-Aminopentanedioate (see all 49)56-86-0--
    L-Methionine(2S)-2-amino-4-(methylsulfanyl)butanoic acid (see all 54)63-68-3--
    L-Phenylalanine(-)-beta-Phenylalanine (see all 28)63-91-2--
    L-Tyrosine(-)-a-Amino-p-hydroxyhydrocinnamate (see all 28)60-18-4--
    Oxoglutaric acid2-Ketoglutarate (see all 9)328-50-7--
    Phenylpyruvic acid2-Oxo-3-phenylpropanoate (see all 16)156-06-9--
    Pyridoxal 5'-phosphateApolon B6 (see all 27)54-47-7--

    4 DrugBank Compounds for TAT    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Pyridoxal PhosphateCodecarboxylase (see all 9)54-47-7targetcofactor16902803 12441383 12798391 16570355 16466641
    L-Phenylalanine(S)-alpha-Amino-beta-phenylpropionic acid (see all 4)63-91-2target--2890101 16666560 11299302 9356140
    L-Glutamic Acid(2S)-2-Aminopentanedioic acid (see all 15)56-86-0target--16840830
    L-Tyrosine2-Amino-3-(p-hydroxyphenyl)propionic acid (see all 3)60-18-4target--17389761

    10/104 Novoseek inferred chemical compound relationships for TAT gene (see all 104)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    argininamide 81.9 6 10780483 (1), 15273324 (1), 17150503 (1), 12475232 (1) (see all 5)
    polytar 78.1 4 7584083 (1), 2039768 (1)
    pnu 145156e 70.8 3 9840289 (2)
    st-pc 58.5 3 17266559 (2), 10544137 (1)
    tat-1 57.9 4 1548750 (2), 10364329 (2)
    neamine 56.6 1 10747964 (1)
    5,6-dichloro-1-beta-d-ribofuranosylbenzimidazole 56.3 4 10757782 (1), 1756726 (1), 20370601 (1)
    tyrosine 55.1 217 8100416 (4), 7988415 (4), 1967940 (3), 1359707 (3) (see all 99)
    4-thiouracil 52.3 1 8639596 (1)
    flavopiridol 46.6 2 10906320 (1), 20370601 (1)

    Search CenterWatch for drugs/clinical trials and news about TAT / ATTY

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for TAT gene: 
    NM_000353.2  

    Unigene Cluster for TAT:

    Tyrosine aminotransferase
    Hs.161640  [show with all ESTs]
    Unigene Representative Sequence: NM_000353
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000355962(uc002fap.2) ENST00000564007 ENST00000566094(uc002faq.3)
    ENST00000566010(uc002far.3)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AK313380.1 BC020707.1 BC022292.1 BC130534.1 X52520.1 X55675.1 

    7 DOTS entries:

    DT.410956  DT.92445496  DT.91971153  DT.91971151  DT.120656384  DT.91943210  DT.95142691 

    24/66 AceView cDNA sequences (see all 66):

    AV649381 X55675 AV652015 BC020707 BC022292 CB161938 AV651993 BX505436 
    BG617412 X52520 AV647497 CB153377 BG568198 BX951447 BG533462 BP357323 
    T28660 BG567891 BX100092 BG567671 AV659461 CB153890 NM_000353 BG565770 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for TAT    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b
    SP1:                                -                                                           -               
    SP2:                                                                          -                 -               
    SP3:                                                                                                            
    SP4:                                                                                                            
    SP5:                                                                                                            


    ECgene alternative splicing isoforms for TAT

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TAT expression in normal human tissues (normalized intensities)      TAT embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATTTGGTGA
    TAT Expression
    About this image


    TAT expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Liver (Hepatobiliary System)    fully expand to see all 4 entries
             Hepatocytes Liver Lobule
             Hepatocyte-like cells ( Functional hepatocyte generation from human embryonic stem...
             Human Hepatocyte (HH)   

    See TAT Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TAT

    SOURCE GeneReport for Unigene cluster: Hs.161640
        SABiosciences Expression via Pathway-Focused PCR Arrays including TAT: 
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat
              Amino Acid Metabolism I in human mouse rat
              Embryonic Stem Cells in human mouse rat
              Osmotic Stress in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TAT gene from 10/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tat1 , 5 tyrosine aminotransferase1, 5 86.2(n)1
    92.07(a)1
      8 (57.38 cM)5
    2347241  NM_146214.31  NP_666326.11 
     1099904375 
    chicken
    (Gallus gallus)
    Aves TAT1 tyrosine aminotransferase 76.28(n)
    82.16(a)
      415884  XM_414240.2  XP_414240.1 
    lizard
    (Anolis carolinensis)
    Reptilia TAT6
    Uncharacterized protein
    77(a)
    1 ↔ 1
    GL343483.1(284967-291626)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.321862 Xenopus laevis transcribed sequence with moderate similarity more 78.2(n)    BJ626626.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tat1 tyrosine aminotransferase 68.05(n)
    72.81(a)
      561410  NM_001077554.1  NP_001071022.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG14611 , 3 tyrosine aminotransferase3
    CG14611
    52(a)3
    57.13(n)1
    52.74(a)1
      323811  NM_132725.21  NP_572953.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F42D1.23
    tatn-11
    tyrosine aminotransferase3
    Protein TATN-11
    44(a)3
    51.29(n)1
    44.2(a)1
      X(14826283-14827867)3
    1815741  NM_078053.41  NP_510454.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HIS5(YIL116W)4 Histidinol-phosphate aminotransferase, catalyzes the more   --   9(142928-144085) 854690  NP_012150.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G361601 tyrosine aminotransferase 47.86(n)
    35.01(a)
      833613  NM_123007.5  NP_198465.3 
    rice
    (Oryza sativa)
    Liliopsida Os02g03027001 hypothetical protein 46.95(n)
    37.13(a)
      4329101  NM_001053163.1  NP_001046628.1 


    ENSEMBL Gene Tree for TAT (if available)
    TreeFam Gene Tree for TAT (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TAT gene
    CCBL12  CCBL22  

    TAT for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/138 SNPs in TAT are shown (see all 138)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0005604
    Tyrosinemia 2 (TYRO2)4--see VAR_0005602 G V mis40--------
    rs2008026541,2
    C--57380974(+) AAAAAA/TATATA 1 -- us2k10--------
    rs1863234571,2
    --72618213(+) TCTTCA/GCTGAC 1 -- int10--------
    rs2009318651,2
    --72618382(+) TACAA-/TTTTTT 1 -- int10--------
    rs80641081,2
    C,F--72618389(+) TTTTTT/AAAAAA 1 -- int12Minor allele frequency- A:0.06WA NA 238
    rs1912733641,2
    --72618421(+) TTTTTA/TAAAAT 1 -- int10--------
    rs1390852471,2
    --72618430(+) ATAATG/TTTTTA 1 -- int10--------
    rs1498965071,2
    C--72618504(+) CTTTCA/GGCCTC 1 -- int10--------
    rs1825474161,2
    --72618590(+) TTAGTG/TACCCC 1 -- int10--------
    rs1439653701,2
    --72618610(+) AGAAGC/TCTTCT 1 -- int10--------

    HapMap Linkage Disequilibrium report for TAT (71599563 - 71611033 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for TAT:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv7285OTHER Inversion18451855


    Human Gene Mutation Database (HGMD): TAT
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing TAT
    DNA2.0 Custom Variant and Variant Library Synthesis for TAT

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 613018   
    OMIM disorders: 277660  
    UniProtKB/Swiss-Prot: ATTY_HUMAN, P17735
  • Tyrosinemia 2 (TYRO2) [MIM:276600]: An inborn error of metabolism characterized by elevations of tyrosine
    in the blood and urine, and oculocutaneous manifestations. Typical features include palmoplantar keratosis,
    painful corneal ulcers, and mental retardation. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 20/78 diseases for TAT (see all 78):    About MalaCards
    tyrosinemia type ii    hanhart syndrome    tyrosinemia    aids dementia complex
    small cell sarcoma    kaposi's sarcoma    disseminated intravascular coagulation    progressive multifocal leukoencephalopathy
    parametritis    corneal ulcer    focal glomerulosclerosis    hiv type 1
    north american indian childhood cirrhosis    japanese encephalitis    encephalitis    liver cirrhosis
    hiv/aids    hyperphenylalaninemia    alcoholic liver cirrhosis    palmoplantar keratosis

    5 diseases from the University of Copenhagen DISEASES database for TAT:
    Tyrosinemia     Acquired immunodeficiency syndrome     Kaposi's sarcoma     Hepatocellular carcinoma
    Keratitis

    TAT for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/87 Novoseek inferred disease relationships for TAT gene (see all 87)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    immunodeficiency 91.1 511 12605891 (4), 8434019 (4), 17229693 (3), 10665489 (3) (see all 99)
    tyrosinemia type ii 84.1 11 16640556 (2), 16050420 (1), 16602095 (1), 9544843 (1) (see all 8)
    equine infectious anemia 74.2 9 8178449 (2), 10964778 (2), 8906885 (1), 1312617 (1) (see all 6)
    aids dementia complex 70.9 6 15801785 (1), 19886840 (1), 17505985 (1), 9278385 (1) (see all 6)
    aids 66.7 79 10477700 (2), 10812220 (2), 7584083 (2), 14984439 (2) (see all 60)
    hiv infections 63 40 19526283 (2), 15869407 (1), 15976177 (1), 8212135 (1) (see all 37)
    kaposi sarcoma 62.1 23 16436505 (2), 8416373 (1), 12055184 (1), 15942664 (1) (see all 22)
    hiv encephalitis 59.8 1 10751368 (1)
    aids-related malignancies 57 2 10799578 (1)
    dementia 51.8 13 11060751 (1), 15710248 (1), 16356633 (1), 17078933 (1) (see all 11)

    Genatlas disease: TAT
    tyrosinemia II,oculocutaneous,Richner-Hanhart syndrome,with palmoplantar keratoderma (hyperkeratosis),ectodermal
    dysplasia and corneal dystrophy

    Genetic Association Database (GAD): TAT

    Export disorders for TAT gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TAT gene, integrated from 9 sources (see all 812):
    (articles sorted by number of sources associating them with TAT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and expression of human tyrosine aminotransferase cDNA. (PubMed id 7999802)1, 2, 9 Seralini G.E.... Labrie F. (1995)
    2. Nucleotide sequence of the human tyrosine aminotransferase gene. (PubMed id 7908801)1, 2, 9 Zelenin S.M. and Mertvetsov N.P. (1994)
    3. Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II. (PubMed id 1357662)1, 2, 9 Natt E.... Scherer G. (1992)
    4. Isolation and characterization of the human tyrosine aminotransferase gene. (PubMed id 1973834)1, 2, 9 Rettenmeier R.... Scherer G. (1990)
    5. Genome-wide association study identifies multiple loci influencing human serum metabolite levels. (PubMed id 22286219)1, 4 Kettunen J....Ripatti S. (2012)
    6. Human immunodeficiency virus type 1 Tat protein decreases cyclic AMP synthesis in rat microglia cultures. (PubMed id 11299302)7, 9 Patrizio M....Levi G. (2001)
    7. Tyrosine aminotransferase and gamma-glutamyl transferase activity in human fetal hepatocyte primary cultures under proliferative conditions. (PubMed id 15027097)1, 9 Rehman K.K....Habibullah C.M. (2004)
    8. The growth factor granulin interacts with cyclin T1 and modulates P-TEFb-dependent transcription. (PubMed id 12588988)1, 9 Hoque M....Pe'ery T. (2003)
    9. TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping. (PubMed id 16917729)1, 9 Maydan G....Korman S.H. (2006)
    10. Differentiation of human embryonic stem cells into hepatocytes in 2D and 3D culture systems in vitro. (PubMed id 16892178)1, 9 Baharvand H....Farrokhi A. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6898 HGNC: 11573 AceView: TAT Ensembl:ENSG00000198650 euGenes: HUgn6898
    ECgene: TAT Kegg: 6898 H-InvDB: TAT

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TAT Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TAT Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TAT

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TAT gene:
    Search GeneIP for patents involving TAT

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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