Human Gene TAT (ENST00000355962.5) Description and Page Index
Description: Homo sapiens tyrosine aminotransferase (TAT), mRNA. (from RefSeq NM_000353) RefSeq Summary (NM_000353): 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## Gencode Transcript: ENST00000355962.5 Gencode Gene: ENSG00000198650.11 Transcript (Including UTRs) Position: hg38 chr16:71,565,660-71,577,092 Size: 11,433 Total Exon Count: 12 Strand: - Coding Region Position: hg38 chr16:71,568,144-71,576,415 Size: 8,272 Coding Exon Count: 11
ID:ATTY_HUMAN DESCRIPTION: RecName: Full=Tyrosine aminotransferase; Short=TAT; EC=184.108.40.206; AltName: Full=L-tyrosine:2-oxoglutarate aminotransferase; 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. COFACTOR: Pyridoxal phosphate. PATHWAY: Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 2/6. SUBUNIT: Homodimer (Probable). DISEASE: Defects in TAT are the cause of tyrosinemia type 2 (TYRO2) [MIM:276600]; also known as Richner-Hanhart syndrome. TYRO2 is 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. SIMILARITY: Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TAT";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P17735
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.