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... See more...

Aliases for TAT Gene

Aliases for TAT Gene

  • Tyrosine Aminotransferase 2 3 4 5
  • L-Tyrosine:2-Oxoglutarate Aminotransferase 3 4
  • EC 2.6.1.5 4 50
  • Testis Tissue Sperm-Binding Protein Li 34a 3
  • Tyrosine Aminotransferase, Cytosolic 3
  • TAT 5

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 Tyrosinemia. Among its related pathways are Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism and Phenylalanine metabolism. Gene Ontology (GO) annotations related to this gene include pyridoxal phosphate binding and amino acid binding. An important paralog of this gene is ENSG00000286112.

UniProtKB/Swiss-Prot Summary 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.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TAT Gene

Genomics for TAT Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TAT Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J071577 Promoter 0.7 EPDnew 250.7 0.0 -20 0.1 YY1 RXRA JUND HNF4A RAD21 ZNF652 REST MAX SP1 TAF1 TAT lnc-ZNF19-1 MARVELD3 HSALNG0112494 TAT-AS1
GH16J071625 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 10.8 -50.4 -50364 3.7 KLF9 POLR2A NFIC ZIC2 MXD4 ZFP64 MBD2 MAFF SAP130 MIER3 MARVELD3 ENSG00000260593 HSALNG0112497 lnc-MARVELD3-5 PHLPP2 RNU6-208P TAT SNORA70D HPR RF00017-1918
GH16J071721 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 7 -146.3 -146316 3.6 MYC ZNF600 IKZF1 ZNF592 KLF9 CEBPA ZNF10 NFIC POLR2A ZIC2 PHLPP2 ENSG00000261513 HSALNG0112504 IST1 AP1G1 DHX38 MARVELD3 ZNF19 VAC14 TAT
GH16J071492 Enhancer 1 Ensembl ENCODE 10.8 +84.8 84791 5.8 MYC NCOR1 ZNF592 NFIC MAFF TAL1 ZNF316 GABPB1 NFE2 RAD21 ZNF23 SF3B3 DHX38 ZNF19 ENSG00000247324 TAT CALB2 VAC14 TAT-AS1 PHLPP2
GH16J071669 Enhancer 0.8 ENCODE 9.5 -93.4 -93431 2 FOXA2 SMAD4 SAP130 MIER3 DMAP1 TEAD3 KAT7 FOSL2 JUND CREM HSALNG0112501 PHLPP2 DHX38 ATXN1L SNORA70D TAT HPR RNU6-208P RF00026-396 MARVELD3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TAT on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TAT

Top Transcription factor binding sites by QIAGEN in the TAT gene promoter:
  • AP-1
  • ATF
  • ATF-2
  • c-Jun
  • E2F
  • Sp1
  • TBP
  • YY1

Genomic Locations for TAT Gene

Latest Assembly
chr16:71,565,660-71,577,092
(GRCh38/hg38)
Size:
11,433 bases
Orientation:
Minus strand

Previous Assembly
chr16:71,599,563-71,610,995
(GRCh37/hg19 by Entrez Gene)
Size:
11,433 bases
Orientation:
Minus strand

chr16:71,599,563-71,611,033
(GRCh37/hg19 by Ensembl)
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

Protein Domains for TAT Gene

Suggested Antigen Peptide Sequences for TAT Gene

GenScript: Design optimal peptide antigens:
  • Tyrosine aminotransferase (A1L4G7_HUMAN)
  • L-tyrosine:2-oxoglutarate aminotransferase (ATTY_HUMAN)

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

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + L-tyrosine = 3-(4-hydroxyphenyl)pyruvate + L-glutamate; Xref=Rhea:RHEA:15093, ChEBI:CHEBI:16810, ChEBI:CHEBI:29985, ChEBI:CHEBI:36242, ChEBI:CHEBI:58315; EC=2.6.1.5; Evidence={ECO:0000269|PubMed:16640556, ECO:0000269|PubMed:7999802};.
GENATLAS Biochemistry:
tyrosine aminotransferase,catalyzing the first step of tyrosine catabolism

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:0003824 catalytic activity IEA --
GO:0004838 L-tyrosine:2-oxoglutarate aminotransferase activity NAS 1973834
GO:0005515 protein binding IPI 24722188
GO:0008483 transaminase activity IEA --
GO:0016597 amino acid binding 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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TAT

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
extracellular 2
cytoskeleton 2
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 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 IEA,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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tyrosine Approved, Investigational Nutra Target 1149
Glutamic acid Approved Nutra Target 324
Phenylalanine Approved, Investigational Nutra Target 268
Pyridoxal Phosphate Approved, Investigational Nutra Target, cofactor 18
Famotidine Approved Pharma Histamine H2-receptor antagonist 99

(40) Additional Compounds for TAT Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TAT: view

Transcripts for TAT Gene

mRNA/cDNA for TAT Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TAT

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

Expression for TAT Gene

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



Protein tissue co-expression partners for TAT Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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)
  • Adrenal gland(2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • immune
  • integumentary
  • nervous
  • urinary
Regions:
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

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 29 30
  • 99.49 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TAT 29 30
  • 90.6 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TAT 29 30
  • 90.16 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TAT 30
  • 90 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tat 29
  • 87.15 (n)
Mouse
(Mus musculus)
Mammalia Tat 29 16 30
  • 86.2 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TAT 30
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TAT 29 30
  • 76.28 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TAT 30
  • 78 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tat 29
  • 70.13 (n)
Str.15963 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.32186 29
Zebrafish
(Danio rerio)
Actinopterygii tat 29 30
  • 68.05 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7145 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG1461 29 30 31
  • 57.13 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000327 29
  • 57.08 (n)
Worm
(Caenorhabditis elegans)
Secernentea tatn-1 29 30
  • 51.21 (n)
OneToOne
F42D1.2 31
  • 44 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BNA3 30
  • 20 (a)
OneToMany
HIS5 32
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G36160 29
  • 47.86 (n)
Rice
(Oryza sativa)
Liliopsida Os02g0302700 29
  • 47.04 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 57 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.10155 29
Species where no ortholog for TAT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for TAT: view image
Alliance of Genome Resources:
Additional Orthologs for TAT

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TAT Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
1003461 Uncertain Significance: Tyrosinemia type II 71,570,701(-) C/T
NM_000353.3(TAT):c.890G>A (p.Arg297Gln)
MISSENSE
1029798 Uncertain Significance: Tyrosinemia type II 71,572,269(-) T/A
NM_000353.3(TAT):c.623A>T (p.Lys208Met)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
841372 Pathogenic: Tyrosinemia type II 71,570,776(-) AT/A
NM_000353.3(TAT):c.814del (p.Ile272fs)
FRAMESHIFT
884401 Uncertain Significance: Tyrosinemia type II 71,567,891(-) C/G
NM_000353.3(TAT):c.*253G>C
THREE_PRIME_UTR
884402 Uncertain Significance: Tyrosinemia type II 71,567,974(-) C/T
NM_000353.3(TAT):c.*170G>A
THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TAT Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for TAT Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for TAT Gene

MalaCards: The human disease database

(17) MalaCards diseases for TAT Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
tyrosinemia, type ii
  • tyrsn2
tyrosinemia
  • hereditary tyrosinemia
tyrosinosis
human immunodeficiency virus type 1
  • human immunodeficiency virus type 1, susceptibility to
tyrosinemia, type iii
  • tyrsn3
- 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 variants 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

Additional Disease Information for TAT

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

Publications for TAT Gene

  1. 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 72
  2. Cloning and expression of human tyrosine aminotransferase cDNA. (PMID: 7999802) Séralini GE … Labrie F (Biochimica et biophysica acta 1995) 3 4 22
  3. [Nucleotide sequence of the human tyrosine aminotransferase gene]. (PMID: 7908801) Zelenin SM … Mertvetsov NP (Bioorganicheskaia khimiia 1994) 3 4 22
  4. Isolation and characterization of the human tyrosine aminotransferase gene. (PMID: 1973834) Rettenmeier R … Scherer G (Nucleic acids research 1990) 3 4 22
  5. Genome-wide association study identifies multiple loci influencing human serum metabolite levels. (PMID: 22286219) Kettunen J … Ripatti S (Nature genetics 2012) 3 40

Products for TAT Gene

Sources for TAT Gene