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 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:71,565,660-71,577,092)mRNA (may differ from genome)Protein (454 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
ReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: ATTY_HUMAN
DESCRIPTION: RecName: Full=Tyrosine aminotransferase; Short=TAT; EC=2.6.1.5; 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";

-  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

-  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
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -25.2096-0.263 Picture PostScript Text
3' UTR -631.802484-0.254 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
IPR004839 - Aminotransferase_I/II
IPR004838 - NHTrfase_class1_PyrdxlP-BS
IPR015424 - PyrdxlP-dep_Trfase_major_dom
IPR015421 - PyrdxlP-dep_Trfase_major_sub1
IPR015422 - PyrdxlP-dep_Trfase_major_sub2
IPR011715 - Tyr_aminoTrfase_ubiquitination
IPR005958 - TyrNic_aminoTrfase
IPR005957 - Tyrosine_aminoTrfase
IPR021178 - Tyrosine_transaminase

Pfam Domains:
PF00155 - Aminotransferase class I and II
PF07706 - Aminotransferase ubiquitination site

Protein Data Bank (PDB) 3-D Structure
MuPIT help

3DYD
- X-ray MuPIT


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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologGenome BrowserGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsemblWormBase 
Protein SequenceProtein Sequence Protein SequenceProtein Sequence 
AlignmentAlignment AlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0004838 L-tyrosine:2-oxoglutarate aminotransferase activity
GO:0005515 protein binding
GO:0008483 transaminase activity
GO:0016597 amino acid binding
GO:0016740 transferase activity
GO:0030170 pyridoxal phosphate binding

Biological Process:
GO:0006103 2-oxoglutarate metabolic process
GO:0006520 cellular amino acid metabolic process
GO:0006536 glutamate metabolic process
GO:0006559 L-phenylalanine catabolic process
GO:0006572 tyrosine catabolic process
GO:0006979 response to oxidative stress
GO:0009058 biosynthetic process
GO:0009072 aromatic amino acid family metabolic process
GO:0009074 aromatic amino acid family catabolic process
GO:0014070 response to organic cyclic compound
GO:0046689 response to mercury ion
GO:0051384 response to glucocorticoid

Cellular Component:
GO:0005575 cellular_component
GO:0005739 mitochondrion
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  X52520 - Human mRNA for tyrosine aminotransferase (TAT) (EC 2.6.1.5).
HM005657 - Homo sapiens clone HTL-T-34a testis tissue sperm-binding protein Li 34a mRNA, complete cds.
JD381971 - Sequence 362995 from Patent EP1572962.
JD309707 - Sequence 290731 from Patent EP1572962.
JD284202 - Sequence 265226 from Patent EP1572962.
JD505889 - Sequence 486913 from Patent EP1572962.
JD356414 - Sequence 337438 from Patent EP1572962.
JD488132 - Sequence 469156 from Patent EP1572962.
JD544867 - Sequence 525891 from Patent EP1572962.
JD254673 - Sequence 235697 from Patent EP1572962.
JD427058 - Sequence 408082 from Patent EP1572962.
JD380675 - Sequence 361699 from Patent EP1572962.
JD523106 - Sequence 504130 from Patent EP1572962.
JD161678 - Sequence 142702 from Patent EP1572962.
JD153330 - Sequence 134354 from Patent EP1572962.
JD198496 - Sequence 179520 from Patent EP1572962.
JD272083 - Sequence 253107 from Patent EP1572962.
JD227660 - Sequence 208684 from Patent EP1572962.
JD405653 - Sequence 386677 from Patent EP1572962.
JD523105 - Sequence 504129 from Patent EP1572962.
JD547692 - Sequence 528716 from Patent EP1572962.
JD547691 - Sequence 528715 from Patent EP1572962.
JD161677 - Sequence 142701 from Patent EP1572962.
JD269264 - Sequence 250288 from Patent EP1572962.
X55675 - H.sapiens mRNA for tyrosine aminotransferase.
JD373508 - Sequence 354532 from Patent EP1572962.
JD463497 - Sequence 444521 from Patent EP1572962.
JD065247 - Sequence 46271 from Patent EP1572962.
JD313152 - Sequence 294176 from Patent EP1572962.
BC130534 - Homo sapiens tyrosine aminotransferase, mRNA (cDNA clone MGC:163406 IMAGE:40146565), complete cds.
JD299984 - Sequence 281008 from Patent EP1572962.
JD433159 - Sequence 414183 from Patent EP1572962.
JD489022 - Sequence 470046 from Patent EP1572962.
JD119758 - Sequence 100782 from Patent EP1572962.
JD146193 - Sequence 127217 from Patent EP1572962.
JD076174 - Sequence 57198 from Patent EP1572962.
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.

-  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

BioCyc Knowledge Library
PWY-5754 - 4-hydroxybenzoate biosynthesis
TYRFUMCAT-PWY - tyrosine degradation

Reactome (by CSHL, EBI, and GO)

Protein P17735 (Reactome details) participates in the following event(s):

R-HSA-71155 tyrosine + alpha-ketoglutarate <=> p-hydroxyphenylpyruvate + glutamate
R-HSA-517444 p-hydroxyphenylpyruvate + glutamate <=> tyrosine + alpha-ketoglutarate
R-HSA-71182 Phenylalanine and tyrosine catabolism
R-HSA-6788656 Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ATTY_HUMAN, B2R8I1, D3DWS2, NM_000353, P17735, uc002fap.1, uc002fap.2, uc002fap.3, uc002fap.4
UCSC ID: uc002fap.4
RefSeq Accession: NM_000353
Protein: P17735 (aka ATTY_HUMAN)
CCDS: CCDS10903.1

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