Description: Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA. 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. Transcript (Including UTRs) Position: hg19 chr16:71,609,327-71,610,998 Size: 1,672 Total Exon Count: 2 Strand: - Coding Region Position: hg19 chr16:71,609,890-71,610,318 Size: 429 Coding Exon Count: 1
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): TAT CDC HuGE Published Literature: TAT Positive Disease Associations: Metabolism Related Studies:
Metabolism Johannes Kettunen et al. Nature genetics 2012, Genome-wide association study identifies multiple loci influencing human serum metabolite levels., Nature genetics.
[PubMed 22286219]
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.
Pfam Domains: PF07706 - Aminotransferase ubiquitination site
ModBase Predicted Comparative 3D Structure on Q8WW92
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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.
US Server
