Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6898
Gene name Gene Name - the full gene name approved by the HGNC.
Tyrosine aminotransferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TAT
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q22.2
Summary Summary of gene provided in NCBI Entrez 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)
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs118203914 G>A Likely-pathogenic, pathogenic Coding sequence variant, stop gained
rs587776512 T>C Pathogenic Intron variant
rs746077579 ->G Likely-pathogenic Frameshift variant, coding sequence variant
rs748924248 C>T Likely-pathogenic Splice donor variant
rs759311161 C>T Uncertain-significance, likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023561 hsa-miR-1-3p Microarray 18668037
MIRT1411603 hsa-miR-10a CLIP-seq
MIRT1411604 hsa-miR-10b CLIP-seq
MIRT1411605 hsa-miR-1273 CLIP-seq
MIRT1411606 hsa-miR-1304 CLIP-seq
Transcription factors
Transcription factor Regulation Reference
NR3C1 Unknown 12815172
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004838 Function L-tyrosine:2-oxoglutarate aminotransferase activity IDA 7999802
GO:0004838 Function L-tyrosine:2-oxoglutarate aminotransferase activity NAS 1973834
GO:0005515 Function Protein binding IPI 24722188, 25910212, 31515488, 32296183, 32814053
GO:0005575 Component Cellular_component ND
GO:0005739 Component Mitochondrion IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613018 11573 ENSG00000198650
Protein
UniProt ID P17735
Protein name Tyrosine aminotransferase (TAT) (EC 2.6.1.5) (L-tyrosine:2-oxoglutarate aminotransferase)
Protein 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 t
PDB 3DYD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07706 TAT_ubiq 1 40 Aminotransferase ubiquitination site Motif
PF00155 Aminotran_1_2 71 434 Aminotransferase class I and II Domain
Sequence
Sequence length 454
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Ubiquinone and other terpenoid-quinone biosynthesis
Cysteine and methionine metabolism
Tyrosine metabolism
Phenylalanine metabolism
Phenylalanine, tyrosine and tryptophan biosynthesis
Metabolic pathways
  Tyrosine catabolism
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
28255985
Microcephaly Microcephaly rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019
View all (280 more)
Nystagmus Nystagmus rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Palmoplantar keratoderma Keratoderma, Palmoplantar rs59616921, rs1568039793, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs398123054, rs398123055, rs398123056, rs398123057, rs398122949, rs398122950, rs397515639, rs398122951
View all (10 more)
Unknown
Disease term Disease name Evidence References Source
Gout Gout GWAS
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
3 Hydroxyacyl CoA Dehydrogenase Deficiency Associate 18569454
Abnormalities Drug Induced Associate 27913960
Acquired Immunodeficiency Syndrome Associate 10477700, 11533184, 12857933, 14694110, 15020715, 16135803, 17452490, 17942396, 17958917, 19726520, 22423313, 2243081, 24625401, 29666292, 37047108
Aging Premature Associate 36419337
AIDS Arteritis Central Nervous System Associate 25613138
AIDS Associated Nephropathy Associate 12055184, 21315782, 27250920, 28127697, 28640909, 30158296
AIDS Associated Nephropathy Stimulate 9987082
AIDS Dementia Complex Associate 24625401, 9501225
AIDS related Kaposi sarcoma Associate 10662620, 7690138
AIDS related Kaposi sarcoma Stimulate 7539135