TAT

Protein identityUniProt · HPA

UniProt accession

P17735

Gene

TAT

Ensembl

ENSG00000198650

Chromosome

16

Canonical length

454 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Quaternary structure

Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

454 residues, UniProt reviewed canonical sequence.

>P17735|TAT
     1  MDPYMIQMSS KGNLPSILDV HVNVGGRSSV PGKMKGRKAR WSVRPSDMAK KTFNPIRAIV
    61  DNMKVKPNPN KTMISLSIGD PTVFGNLPTD PEVTQAMKDA LDSGKYNGYA PSIGFLSSRE
   121  EIASYYHCPE APLEAKDVIL TSGCSQAIDL CLAVLANPGQ NILVPRPGFS LYKTLAESMG
   181  IEVKLYNLLP EKSWEIDLKQ LEYLIDEKTA CLIVNNPSNP CGSVFSKRHL QKILAVAARQ
   241  CVPILADEIY GDMVFSDCKY EPLATLSTDV PILSCGGLAK RWLVPGWRLG WILIHDRRDI
   301  FGNEIRDGLV KLSQRILGPC TIVQGALKSI LCRTPGEFYH NTLSFLKSNA DLCYGALAAI
   361  PGLRPVRPSG AMYLMVGIEM EHFPEFENDV EFTERLVAEQ SVHCLPATCF EYPNFIRVVI
   421  TVPEVMMLEA CSRIQEFCEQ HYHCAEGSQE ECDK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TAT can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.28

Highest tissue expression

1,188 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TAT.

Disease | AllUniProt

Conditions TAT is implicated in, by any mechanism.

• Tyrosinemia 2 (TYRSN2) MIM:276600

Disease | GeneticClinVar

67 pathogenic / likely-pathogenic of 474 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Tyrosinemia type II

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.61

gnomAD pLI

0.01

gnomAD missense Z

0.76

DepMap mean gene effect

0.04

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• 2-oxoglutarate metabolic process
• cellular response to insulin stimulus
• cellular response to retinoic acid
• glutamate metabolic process
• L-phenylalanine catabolic process
• L-tyrosine catabolic process
• liver regeneration
• response to cAMP
• response to cortisol
• response to dexamethasone
• response to ethanol
• response to mercury ion
• response to oxidative stress

Molecular functions

• amino acid binding
• identical protein binding
• pyridoxal phosphate binding
• L-tyrosine-2-oxoglutarate transaminase activity

Cellular components

• cytosol

Protein domainsUniProt · Pfam · InterPro

• Aminotransferases, class-I, pyridoxal-phosphate-binding site
• Aminotransferase, class I/classII, large domain
• Pyridoxal phosphate-dependent transferase, major domain
• Pyridoxal phosphate-dependent transferase, small domain
• Pyridoxal phosphate-dependent transferase
• Aminotransferase class I and II
• Tyrosine aminotransferase
• Tyrosine/nicotianamine aminotransferase
• Tyrosine aminotransferase ubiquitination region
• Aminotransferase ubiquitination site

KeywordsUniProt

• Acetylation
• Aminotransferase
• Intellectual disability
• Palmoplantar keratoderma
• Phenylalanine catabolism
• Phosphoprotein
• Pyridoxal phosphate
• Transferase
• Tyrosine catabolism

InteractionsUniProt · HPA

Protein binding partners of TAT in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• GRN
• UBE3A