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Aliases for TAT Gene

Aliases for TAT Gene

  • Tyrosine Aminotransferase 2 3 5
  • EC 2.6.1.5 4 58
  • L-Tyrosine:2-Oxoglutarate Aminotransferase 4

External Ids for TAT Gene

Previous GeneCards Identifiers for TAT Gene

  • GC16M062492
  • GC16M072323
  • GC16M071336
  • GC16M071376
  • GC16M070158
  • GC16M071599
  • GC16M057368

Summaries for TAT Gene

Entrez Gene Summary for TAT 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]

GeneCards Summary for TAT Gene

TAT (Tyrosine Aminotransferase) is a Protein Coding gene. Diseases associated with TAT include Tyrosinemia, Type Ii and Hanhart Syndrome. Among its related pathways are Metabolism and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. GO annotations related to this gene include pyridoxal phosphate binding and amino acid binding. An important paralog of this gene is KYAT1.

UniProtKB/Swiss-Prot for TAT Gene

  • 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.

Additional gene information for TAT Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TAT Gene

Genomics for TAT Gene

Regulatory Elements for TAT Gene

Enhancers for TAT Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H071625 0.9 ENCODE 10.7 -50.3 -50326 3 NFIB ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ELK1 SCRT2 ZNF391 PHLPP2 RNU6-208P TAT SNORA70D MARVELD3 HPR LOC105371336 ENSG00000260593
GH16H071492 0.9 ENCODE 9.8 +84.9 84898 0 HDAC1 PKNOX1 ATF1 TBL1XR1 ARNT ZBTB40 CHAMP1 TCF12 GATA2 ZBTB2 ZNF23 ENSG00000247324 CALB2 TAT ENSG00000261611 LOC105371335
GH16H071721 1.1 ENCODE 7 -146.0 -145963 2 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 YBX1 ZNF2 ZBTB7B SP3 PHLPP2 DHX38 AP1G1 MARVELD3 IST1 TAT ENSG00000261513 SNORA70D
GH16H071669 0.8 ENCODE 9.5 -93.4 -93394 2 ELF3 TBP FOXA2 ATF1 ARID4B RAD21 RCOR1 ATF7 CREM ZHX2 PHLPP2 SNORA70D TAT HPR RNU6-208P
GH16H071630 0.6 ENCODE 10.7 -53.9 -53853 0 SMARCE1 DPF2 ZNF217 CTBP1 JUND GATA3 RCOR1 CUX1 FOS RNU6-208P PHLPP2 TAT SNORA70D LOC105371336 ENSG00000260593
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TAT on UCSC Golden Path with GeneCards custom track

Genomic Location for TAT Gene

Chromosome:
16
Start:
71,565,660 bp from pter
End:
71,577,130 bp from pter
Size:
11,471 bases
Orientation:
Minus strand

Genomic View for TAT Gene

Genes around TAT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TAT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TAT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TAT Gene

Proteins for TAT Gene

  • Protein details for TAT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P17735-ATTY_HUMAN
    Recommended name:
    Tyrosine aminotransferase
    Protein Accession:
    P17735
    Secondary Accessions:
    • B2R8I1
    • D3DWS2

    Protein attributes for TAT Gene

    Size:
    454 amino acids
    Molecular mass:
    50399 Da
    Cofactor:
    Name=pyridoxal 5-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for TAT Gene

neXtProt entry for TAT Gene

Selected DME Specific Peptides for TAT Gene

P17735:
  • PSGAMYLMVGIEMEHFPEFENDVEFTE
  • GWILIHDRRDIFGNEIRDGL
  • KLSQRILGPCT
  • LSIGDPTVFGNLPTDPEVTQAMKDALDSGK
  • VPILSCGGLAKRWLVPGWR

Post-translational modifications for TAT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TAT Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for TAT Gene

Gene Families for TAT Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for TAT Gene

Graphical View of Domain Structure for InterPro Entry

P17735

UniProtKB/Swiss-Prot:

ATTY_HUMAN :
  • Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family.
Family:
  • Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family.
genes like me logo Genes that share domains with TAT: view

Function for TAT Gene

Molecular function for TAT Gene

GENATLAS Biochemistry:
tyrosine aminotransferase,catalyzing the first step of tyrosine catabolism
UniProtKB/Swiss-Prot CatalyticActivity:
L-tyrosine + 2-oxoglutarate = 4-hydroxyphenylpyruvate + L-glutamate.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for TAT Gene

Phenotypes From GWAS Catalog for TAT Gene

Gene Ontology (GO) - Molecular Function for TAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004838 L-tyrosine:2-oxoglutarate aminotransferase activity TAS --
GO:0005515 protein binding IPI 25910212
GO:0008483 transaminase activity IEA --
GO:0016597 amino acid binding IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with TAT: view
genes like me logo Genes that share phenotypes with TAT: view

Human Phenotype Ontology for TAT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for TAT Gene

miRTarBase miRNAs that target TAT

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TAT
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for TAT Gene

Localization for TAT Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TAT gene
Compartment Confidence
cytosol 5
mitochondrion 3
nucleus 3
plasma membrane 2
cytoskeleton 2
lysosome 2
extracellular 1

Gene Ontology (GO) - Cellular Components for TAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with TAT: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for TAT Gene

Pathways & Interactions for TAT Gene

genes like me logo Genes that share pathways with TAT: view

UniProtKB/Swiss-Prot P17735-ATTY_HUMAN

  • Pathway: Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 2/6.

Gene Ontology (GO) - Biological Process for TAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006103 2-oxoglutarate metabolic process IDA 7999802
GO:0006520 cellular amino acid metabolic process IEA --
GO:0006536 glutamate metabolic process IDA 7999802
GO:0006559 L-phenylalanine catabolic process TAS --
GO:0006572 tyrosine catabolic process IDA 7999802
genes like me logo Genes that share ontologies with TAT: view

No data available for SIGNOR curated interactions for TAT Gene

Drugs & Compounds for TAT Gene

(68) Drugs for TAT Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutamic Acid Approved Nutra Full agonist, Agonist, Target 236
L-Phenylalanine Approved Nutra Target 0
L-Tyrosine Approved Nutra Target 0
Famotidine Approved Pharma Histamine H2-receptor antagonist 62
L-Methionine Approved Nutra 0

(46) Additional Compounds for TAT Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-Oxo-4-methylthiobutanoic acid
  • 2-Keto-4-methylthiobutyrate
  • 2-Keto-4-methylthiobutyric acid
  • 2-Ketomethiobutyrate
  • 2-Oxo-4-methylthiobutanoate
  • 2-Oxo-4-methylthiobutanoic acid
583-92-6
4-Hydroxyphenylpyruvic acid
  • (p-hydroxyphenyl)-Pyruvate
  • (p-hydroxyphenyl)-Pyruvic acid
  • (p-Hydroxyphenyl)pyruvate
  • (p-Hydroxyphenyl)pyruvic acid
  • 3-(4-Hydroxyphenyl)-2-oxo-propanoate
156-39-8
Oxoglutaric acid
  • 2-Ketoglutarate
  • 2-Ketoglutaric acid
  • 2-Oxo-1,5-pentanedioate
  • 2-Oxo-1,5-pentanedioic acid
  • 2-Oxoglutarate
328-50-7
genes like me logo Genes that share compounds with TAT: view

Transcripts for TAT Gene

Unigene Clusters for TAT Gene

Tyrosine aminotransferase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TAT
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for TAT Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b
SP1: - -
SP2: - -
SP3:
SP4:
SP5:

Relevant External Links for TAT Gene

GeneLoc Exon Structure for
TAT
ECgene alternative splicing isoforms for
TAT

Expression for TAT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TAT Gene

mRNA differential expression in normal tissues according to GTEx for TAT Gene

This gene is overexpressed in Liver (x51.1).

Protein differential expression in normal tissues from HIPED for TAT Gene

This gene is overexpressed in Liver (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TAT Gene



Protein tissue co-expression partners for TAT Gene

NURSA nuclear receptor signaling pathways regulating expression of TAT Gene:

TAT

SOURCE GeneReport for Unigene cluster for TAT Gene:

Hs.161640

Evidence on tissue expression from TISSUES for TAT Gene

  • Liver(4.9)
  • Kidney(3.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TAT Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • immune
  • integumentary
  • nervous
  • urinary
Organs:
Head and neck:
  • brain
  • eye
  • head
Abdomen:
  • kidney
Limb:
  • ankle
  • digit
  • foot
  • hand
  • knee
  • lower limb
  • upper limb
General:
  • blood
  • skin
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with TAT: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for TAT Gene

Orthologs for TAT Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TAT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TAT 33 34
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia TAT 33 34
  • 90.6 (n)
cow
(Bos Taurus)
Mammalia TAT 33 34
  • 90.16 (n)
oppossum
(Monodelphis domestica)
Mammalia TAT 34
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tat 33
  • 87.15 (n)
mouse
(Mus musculus)
Mammalia Tat 33 16 34
  • 86.2 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TAT 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves TAT 33 34
  • 76.28 (n)
lizard
(Anolis carolinensis)
Reptilia TAT 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tat 33
  • 70.13 (n)
Str.15963 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.32186 33
zebrafish
(Danio rerio)
Actinopterygii tat 33 34
  • 68.05 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7145 33
fruit fly
(Drosophila melanogaster)
Insecta CG1461 35 33 34
  • 57.13 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000327 33
  • 57.08 (n)
worm
(Caenorhabditis elegans)
Secernentea tatn-1 33 34
  • 51.21 (n)
F42D1.2 35
  • 44 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BNA3 34
  • 20 (a)
OneToMany
HIS5 36
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G36160 33
  • 47.86 (n)
rice
(Oryza sativa)
Liliopsida Os02g0302700 33
  • 47.04 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 57 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10155 33
Species where no ortholog for TAT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TAT Gene

ENSEMBL:
Gene Tree for TAT (if available)
TreeFam:
Gene Tree for TAT (if available)

Paralogs for TAT Gene

Paralogs for TAT Gene

genes like me logo Genes that share paralogs with TAT: view

Variants for TAT Gene

Sequence variations from dbSNP and Humsavar for TAT Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs587776511 Pathogenic, Tyrosinemia 2 (TYRSN2) [MIM:276600] 71,569,894(+) GGAGT(A/C)CAGGG intron-variant, reference, missense
rs118203914 Pathogenic 71,576,247(-) CCATC(C/T)GAGCC reference, stop-gained
rs118203915 Pathogenic 71,572,224(-) TGGGT(C/G)AGTGT nc-transcript-variant, reference, stop-gained
rs118203916 Pathogenic 71,568,260(-) TCATC(C/T)GAGTG intron-variant, reference, stop-gained
rs587776512 Pathogenic 71,576,031(+) CCTTT(C/T)TATGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TAT Gene

Variant ID Type Subtype PubMed ID
nsv7285 OTHER inversion 18451855

Variation tolerance for TAT Gene

Residual Variation Intolerance Score: 26.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.19; 69.71% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TAT Gene

Human Gene Mutation Database (HGMD)
TAT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TAT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TAT Gene

Disorders for TAT Gene

MalaCards: The human disease database

(12) MalaCards diseases for TAT Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
tyrosinemia, type ii
  • tyrosinemia type ii
hanhart syndrome
  • hypoglossia-hypodactylia
tyrosinemia
  • hereditary tyrosinemia
small cell sarcoma
  • sarcoma, small cell
tyrosinemia, type iii
  • tyrosinemia type iii
- elite association - COSMIC cancer census association via MalaCards
Search TAT in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ATTY_HUMAN
  • Tyrosinemia 2 (TYRSN2) [MIM:276600]: 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. {ECO:0000269 PubMed:1357662}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for TAT Gene

tyrosinemia II,oculocutaneous,Richner-Hanhart syndrome,with palmoplantar keratoderma (hyperkeratosis),ectodermal dysplasia and corneal dystrophy

Relevant External Links for TAT

Genetic Association Database (GAD)
TAT
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TAT
genes like me logo Genes that share disorders with TAT: view

Publications for TAT Gene

  1. Cloning and expression of human tyrosine aminotransferase cDNA. (PMID: 7999802) Séralini GE … Labrie F (Biochimica et biophysica acta 1995) 3 4 22 60
  2. [Nucleotide sequence of the human tyrosine aminotransferase gene]. (PMID: 7908801) Zelenin SM … Mertvetsov NP (Bioorganicheskaia khimiia 1994) 3 4 22 60
  3. Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II. (PMID: 1357662) Natt E … Scherer G (Proceedings of the National Academy of Sciences of the United States of America 1992) 3 4 22 60
  4. Isolation and characterization of the human tyrosine aminotransferase gene. (PMID: 1973834) Rettenmeier R … Scherer G (Nucleic acids research 1990) 3 4 22 60
  5. Genome-wide association study identifies multiple loci influencing human serum metabolite levels. (PMID: 22286219) Kettunen J … Ripatti S (Nature genetics 2012) 3 45 60

Products for TAT Gene

Sources for TAT Gene

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