TAT (tyrosine aminotransferase)

2003-02-01  

Identity

HGNC
LOCATION
16q22.2
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 6898
MIM: 613018
HGNC: 11573
Ensembl: ENSG00000198650

Variants:

dbSNP: 6898
ClinVar: 6898
TCGA: ENSG00000198650
COSMIC: TAT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198650ENST00000355962P17735
ENSG00000198650ENST00000355962A0A140VKB7

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450
500

Pathways

PathwaySourceExternal ID
Ubiquinone and other terpenoid-quinone biosynthesisKEGGko00130
Tyrosine metabolismKEGGko00350
Phenylalanine metabolismKEGGko00360
Phenylalanine, tyrosine and tryptophan biosynthesisKEGGko00400
Ubiquinone and other terpenoid-quinone biosynthesisKEGGhsa00130
Tyrosine metabolismKEGGhsa00350
Phenylalanine metabolismKEGGhsa00360
Phenylalanine, tyrosine and tryptophan biosynthesisKEGGhsa00400
Cysteine and methionine metabolismKEGGko00270
Cysteine and methionine metabolismKEGGhsa00270
Metabolic pathwaysKEGGhsa01100
Methionine salvage pathwayKEGGhsa_M00034
Methionine salvage pathwayKEGGM00034
Biosynthesis of amino acidsKEGGhsa01230
Biosynthesis of amino acidsKEGGko01230
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Phenylalanine and tyrosine catabolismREACTOMER-HSA-71182
Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolismREACTOMER-HSA-6788656

References

Pubmed IDYearTitleCitations
202096012010Down-regulation of tyrosine aminotransferase at a frequently deleted region 16q22 contributes to the pathogenesis of hepatocellular carcinoma.17
165744532006Clinical and mutational investigations of tyrosinemia type II in Northern Tunisia: identification and structural characterization of two novel TAT mutations.3
169177292006TAT 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.3
187211272009Genetically modified adenoviral vector with the protein transduction domain of Tat improves gene transfer to CAR-deficient cells.2
189453162009Identification of two new mutations in the TAT gene in a Danish family with tyrosinaemia type II.2
239542272013Novel and recurrent mutations in the TAT gene in Tunisian families affected with Richner-Hanhart syndrome.2
282559852017Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.2
216363002011A large TAT deletion in a tyrosinaemia type II patient.0
272859492016Tyrosinemia type II: Novel mutations in TAT in a boy with unusual presentation.0

Citation

Dessen P

TAT (tyrosine aminotransferase)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42472/tat-(tyrosine-aminotransferase)