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    TAT tyrosine aminotransferase [ Homo sapiens (human) ]

    Gene ID: 6898, updated on 9-Dec-2024

    Summary

    Official Symbol
    TATprovided by HGNC
    Official Full Name
    tyrosine aminotransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:11573
    See related
    Ensembl:ENSG00000198650 MIM:613018; AllianceGenome:HGNC:11573
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    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]
    Expression
    Restricted expression toward liver (RPKM 242.2) See more
    Orthologs
    NEW
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    Genomic context

    See TAT in Genome Data Viewer
    Location:
    16q22.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (71565660..71577092, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (77382852..77394286, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (71599563..71610995, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903710 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:71599339-71599870 Neighboring gene RNA, U6 small nuclear 1061, pseudogene Neighboring gene TAT antisense RNA 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:71605697-71606896 Neighboring gene uncharacterized LOC105371334 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7681 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7682 Neighboring gene MARVEL domain containing 3 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:71671387-71671938 Neighboring gene uncharacterized LOC124903711

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Tyrosinemia type II
    MedGen: C0268487 OMIM: 276600 GeneReviews: Tyrosinemia Type II
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
    EBI GWAS Catalog
    Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables L-tyrosine-2-oxoglutarate transaminase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables L-tyrosine-2-oxoglutarate transaminase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables L-tyrosine-2-oxoglutarate transaminase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables amino acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables pyridoxal phosphate binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in 2-oxoglutarate metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in L-phenylalanine catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in L-phenylalanine catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glutamate metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to dexamethasone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to mercury ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to oxidative stress IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in tyrosine catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in tyrosine catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    tyrosine aminotransferase
    Names
    L-tyrosine:2-oxoglutarate aminotransferase
    testis tissue sperm-binding protein Li 34a
    tyrosine aminotransferase, cytosolic
    NP_000344.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008235.1 RefSeqGene

      Range
      5004..16436
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000353.3NP_000344.1  tyrosine aminotransferase

      See identical proteins and their annotated locations for NP_000344.1

      Status: REVIEWED

      Source sequence(s)
      AC010547
      Consensus CDS
      CCDS10903.1
      UniProtKB/Swiss-Prot
      B2R8I1, D3DWS2, P17735
      UniProtKB/TrEMBL
      A0A140VKB7, A1L4G7
      Related
      ENSP00000348234.4, ENST00000355962.5
      Conserved Domains (3) summary
      cd00609
      Location:74436
      AAT_like; Aspartate aminotransferase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). Pyridoxal phosphate combines with an alpha-amino acid to form a compound called a Schiff base or aldimine ...
      TIGR01264
      Location:41442
      tyr_amTase_E; tyrosine aminotransferase, eukaryotic
      pfam07706
      Location:140
      TAT_ubiq; Aminotransferase ubiquitination site

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      71565660..71577092 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      77382852..77394286 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)