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TAT tyrosine aminotransferase [ Homo sapiens (human) ]

Gene ID: 6898, updated on 13-Feb-2019

Summary

Official Symbol
TATprovided by HGNC
Official Full Name
tyrosine aminotransferaseprovided by HGNC
Primary source
HGNC:HGNC:11573
See related
Ensembl:ENSG00000198650 MIM:613018
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

Genomic context

See TAT in Genome Data Viewer
Location:
16q22.2
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (71566851..71577095, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (71600754..71610998, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene carbohydrate sulfotransferase 4 Neighboring gene RNA, U6 small nuclear 1061, pseudogene Neighboring gene FOXA and HNF1 motif-containing MPRA enhancers 32 and 166 Neighboring gene TAT antisense RNA 1 Neighboring gene uncharacterized LOC105371334 Neighboring gene MARVEL domain containing 3

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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Tyrosinemia type 2
MedGen: C0268487 OMIM: 276600 GeneReviews: Not available
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NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
L-tyrosine:2-oxoglutarate aminotransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
L-tyrosine:2-oxoglutarate aminotransferase activity NAS
Non-traceable Author Statement
more info
PubMed 
amino acid binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
pyridoxal phosphate binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
2-oxoglutarate metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
L-phenylalanine catabolic process IEA
Inferred from Electronic Annotation
more info
 
L-phenylalanine catabolic process TAS
Traceable Author Statement
more info
 
biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
glutamate metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
response to glucocorticoid IEA
Inferred from Electronic Annotation
more info
 
response to mercury ion IEA
Inferred from Electronic Annotation
more info
 
response to oxidative stress IEA
Inferred from Electronic Annotation
more info
 
tyrosine catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
cytosol TAS
Traceable Author Statement
more info
 
mitochondrion IEA
Inferred from Electronic Annotation
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)

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
    5001..15245
    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
    P17735
    UniProtKB/TrEMBL
    A0A140VKB7
    Related
    ENSP00000348234.4, ENST00000355962.4
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    71566851..71577095 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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