Property Summary

NCBI Gene PubMed Count 24
Grant Count 18
R01 Count 17
Funding $2,210,419
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 0.000
pancreatic ductal adenocarcinoma liver m... -1.519 0.012
Breast cancer -1.500 0.000

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.
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