Property Summary

NCBI Gene PubMed Count 24
PubMed Score 1177.02
PubTator Score 215.54

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
medulloblastoma, large-cell 1.300 6.8e-05
pancreatic ductal adenocarcinoma liver m... -1.519 1.2e-02
Breast cancer -1.500 3.0e-04

 OMIM Phenotype (1)

Protein-protein Interaction (3)

Gene RIF (8)

PMID Text
23954227 Two known mutations and one novel mutation was found in the TAT gene of Tunesian Richner-Hanhart syndrome patients. The geographical distribution of RHS mutations shows regional specificities.
23311648 The high potential application of Tat and its entrapment in elastic cationic niosomes for development of a transdermal gene delivery system are described.
21636300 A paternal inherited frameshift mutation c.1213delCinsAG at codon 405 causing a premature stop codon, and a maternally inherited deletion of 193kb encompassing the complete TAT gene yield the first complete TAT deletion in tyrosinaemia type II described.
20209601 tumor suppressive mechanism of TAT was associated with its proapoptotic role in a mitochondrial-dependent manner by promoting cytochrome-c release and activating caspase-9 and PARP.
18945316 a heterozygous insertion mutation (c.446_447insA; p.D149DfsX28) was found in exon 4 leading to a frameshift and finally resulting in a premature stop codon and a heterozygous missense mutation (c.658C>T; p.P220S) was identified in exon 5.
18721127 Genetically modified adenoviral vector with the protein transduction domain of Tat improves gene transfer to CAR-deficient cells.
16917729 a silent exonic transversion in TAT causes complete missplicing by exon 11 skipping in oculocutaneous tyrosinaemia type II
16574453 two novel missense mutations were identified - (C151Y) and (L273P) within exon 5 and exon 8, respectively in tyrosinemia type II in three unrelated consanguinous Tunisian families

AA Sequence

MDPYMIQMSSKGNLPSILDVHVNVGGRSSVPGKMKGRKARWSVRPSDMAKKTFNPIRAIVDNMKVKPNPN      1 - 70
KTMISLSIGDPTVFGNLPTDPEVTQAMKDALDSGKYNGYAPSIGFLSSREEIASYYHCPEAPLEAKDVIL     71 - 140
TSGCSQAIDLCLAVLANPGQNILVPRPGFSLYKTLAESMGIEVKLYNLLPEKSWEIDLKQLEYLIDEKTA    141 - 210
CLIVNNPSNPCGSVFSKRHLQKILAVAARQCVPILADEIYGDMVFSDCKYEPLATLSTDVPILSCGGLAK    211 - 280
RWLVPGWRLGWILIHDRRDIFGNEIRDGLVKLSQRILGPCTIVQGALKSILCRTPGEFYHNTLSFLKSNA    281 - 350
DLCYGALAAIPGLRPVRPSGAMYLMVGIEMEHFPEFENDVEFTERLVAEQSVHCLPATCFEYPNFIRVVI    351 - 420
TVPEVMMLEACSRIQEFCEQHYHCAEGSQEECDK                                        421 - 454
//

Text Mined References (27)

PMID Year Title
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23954227 2013 Novel and recurrent mutations in the TAT gene in Tunisian families affected with Richner-Hanhart syndrome.
23311648 2013 Potent enhancement of transdermal absorption and stability of human tyrosinase plasmid (pAH7/Tyr) by Tat peptide and an entrapment in elastic cationic niosomes.
22916037 2012 Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
21636300 2011 A large TAT deletion in a tyrosinaemia type II patient.
20209601 2010 Down-regulation of tyrosine aminotransferase at a frequently deleted region 16q22 contributes to the pathogenesis of hepatocellular carcinoma.
18945316 2009 Identification of two new mutations in the TAT gene in a Danish family with tyrosinaemia type II.
18721127 2009 Genetically modified adenoviral vector with the protein transduction domain of Tat improves gene transfer to CAR-deficient cells.
16917729 2006 TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping.
16892178 2006 Differentiation of human embryonic stem cells into hepatocytes in 2D and 3D culture systems in vitro.
16640556 2006 The narrow substrate specificity of human tyrosine aminotransferase--the enzyme deficient in tyrosinemia type II.
16574453 2006 Clinical and mutational investigations of tyrosinemia type II in Northern Tunisia: identification and structural characterization of two novel TAT mutations.
15027097 Tyrosine aminotransferase and gamma-glutamyl transferase activity in human fetal hepatocyte primary cultures under proliferative conditions.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12417987 2002 A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis.
9544843 1998 Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II.
7999802 1995 Cloning and expression of human tyrosine aminotransferase cDNA.
7908801 1994 [Nucleotide sequence of the human tyrosine aminotransferase gene].
6124417 1982 Induction of cytosolic tyrosine aminotransferase by dexamethasone in organ culture of fetal human liver.
4389443 1969 Soluble and mitochondrial forms of tyrosine aminotransferase. Relationship to human tyrosinemia.
2891604 1987 Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1----q22.3 in a patient with tyrosinemia type II.
2870018 1986 Assignment of the human tyrosine aminotransferase gene to chromosome 16.
1973834 1990 Isolation and characterization of the human tyrosine aminotransferase gene.
1357662 1992 Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II.
1356171 1992 Hereditary tyrosinaemia type II in a consanguineous Ashkenazi Jewish family: intrafamilial variation in phenotype; absence of parental phenotype effects on the fetus.