Human Gene TAT (uc002far.3) Description and Page Index
  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. 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##
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 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr16:71,609,327-71,610,998)mRNA (may differ from genome)Protein (142 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
LynxMGIPubMedStanford SOURCETreefamUniProtKB

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): TAT
CDC HuGE Published Literature: TAT
Positive Disease Associations: Metabolism
Related Studies:
  1. Metabolism
    Johannes Kettunen et al. Nature genetics 2012, Genome-wide association study identifies multiple loci influencing human serum metabolite levels., Nature genetics. [PubMed 22286219]

-  MalaCards Disease Associations
  MalaCards Gene Search: TAT
Diseases sorted by gene-association score: tyrosinemia, type ii* (1699), hanhart syndrome (38), tyrosinemia (37), small cell sarcoma (15), tyrosinemia, type iii (8), punctate epithelial keratoconjunctivitis (7), herpes simplex virus keratitis (7), superficial keratitis (7), keratosis (6), amino acid metabolic disorder (2), multiple endocrine neoplasia 1 (2), adamantinoma of long bones (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 346.19 RPKM in Liver
Total median expression: 352.83 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -26.0099-0.263 Picture PostScript Text
3' UTR -154.20563-0.274 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011715 - Tyr_aminoTrfase_ubiquitination

Pfam Domains:
PF07706 - Aminotransferase ubiquitination site

ModBase Predicted Comparative 3D Structure on Q8WW92
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 Protein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0004838 L-tyrosine:2-oxoglutarate aminotransferase activity
GO:0030170 pyridoxal phosphate binding

Biological Process:
GO:0009074 aromatic amino acid family catabolic process

-  Descriptions from all associated GenBank mRNAs
  X52520 - Human mRNA for tyrosine aminotransferase (TAT) (EC
HM005657 - Homo sapiens clone HTL-T-34a testis tissue sperm-binding protein Li 34a mRNA, complete cds.
X55675 - H.sapiens mRNA for tyrosine aminotransferase.
BC130534 - Homo sapiens tyrosine aminotransferase, mRNA (cDNA clone MGC:163406 IMAGE:40146565), complete cds.
AK313380 - Homo sapiens cDNA, FLJ93913, Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encodingmitochondrial protein, mRNA.
HQ258233 - Synthetic construct Homo sapiens clone IMAGE:100072542 tyrosine aminotransferase (TAT) gene, encodes complete protein.
KJ897637 - Synthetic construct Homo sapiens clone ccsbBroadEn_07031 TAT gene, encodes complete protein.
KR711717 - Synthetic construct Homo sapiens clone CCSBHm_00028861 TAT (TAT) mRNA, encodes complete protein.
KR711718 - Synthetic construct Homo sapiens clone CCSBHm_00028864 TAT (TAT) mRNA, encodes complete protein.
KR711719 - Synthetic construct Homo sapiens clone CCSBHm_00028866 TAT (TAT) mRNA, encodes complete protein.
KR711720 - Synthetic construct Homo sapiens clone CCSBHm_00028869 TAT (TAT) mRNA, encodes complete protein.
BC022292 - Homo sapiens tyrosine aminotransferase, mRNA (cDNA clone IMAGE:4734061), with apparent retained intron.
BC020707 - Homo sapiens tyrosine aminotransferase, mRNA (cDNA clone IMAGE:4710626), complete cds.
JD432160 - Sequence 413184 from Patent EP1572962.
JD479999 - Sequence 461023 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00130 - Ubiquinone and other terpenoid-quinone biosynthesis
hsa00270 - Cysteine and methionine metabolism
hsa00350 - Tyrosine metabolism
hsa00360 - Phenylalanine metabolism
hsa00400 - Phenylalanine, tyrosine and tryptophan biosynthesis
hsa01100 - Metabolic pathways

-  Other Names for This Gene
  Alternate Gene Symbols: BC020707, Q8WW92, Q8WW92_HUMAN
UCSC ID: uc002far.3
RefSeq Accession: NM_000353
Protein: Q8WW92

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: BC020707.1
exon count: 2CDS single in 3' UTR: no RNA size: 1116
ORF size: 429CDS single in intron: no Alignment % ID: 99.91
txCdsPredict score: 967.00frame shift in genome: no % Coverage: 97.49
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.