Property Summary

NCBI Gene PubMed Count 22
PubMed Score 38.23
PubTator Score 30.24

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
atypical teratoid / rhabdoid tumor 1.100 7.7e-08
medulloblastoma 1.200 3.1e-07
adult high grade glioma 1.100 7.5e-05
lung carcinoma 1.800 6.5e-38
pituitary cancer -2.800 8.3e-04

Gene RIF (14)

PMID Text
22193973 TPIT is identified as a target autoantigen in 10.5% of patients with lymphocytic hypophysitis.
22170728 Identification of nine new TPIT mutations in a large series of congenital isolated ACTH-deficiency patients.
21622576 The coordinate expression of Etv1 with POMC cell differentiation and its interaction with the highly cell-restricted Tpit factor indicate that Etv1 participates in a combinatorial code for pituitary cell-specific gene expression.
19536175 Observational study of gene-disease association. (HuGE Navigator)
19064610 Observational study of gene-disease association. (HuGE Navigator)
17652218 the M86R TPIT mutation is defining an important surface of the T domain for multiple protein interactions and for transcription
16899054 Overtransmission of a haplotype GAC at the TBX19 locus was associated with increased angry/hostility scores among suicide attempters.
16390921 a new mutation (IVS4+1G>A) that affects the first nucleotide of the splice site at the 5' end of the fourth intron in isolated adrenocorticotropic hormone deviciency
15666849 We report largest series of congenital ACTH deficiency and demonstrate molecular mechanism involves Tpit in majority of cases.
15613420 TPIT gene mutations is the principal molecular cause of neonatal congenital isolated ACTH deficiency
15476446 mutations in the TPIT gene, a T-box factor selectively expressed in developing corticotroph cells, have been found in cases of early-onset isolated ACTH deficiency
12970370 Tpit, along with NGFI-B and SRC-2, is part of a transcription regulatory complex assembled on the POMC promoter in response to hormonal stimulation.
12651888 TPIT has a role in expression of the pro-opiomelanocortin gene and terminal differentiation of the pituitary corticotroph lineage, and its mutation causes early onset pituitary ACTH deficiency
11916612 Review. Association of 2 mutations with an ACTH deficiency is consistent with the role of tbx19 in differentiation of POMC cells.

AA Sequence

MAMSELGTRKPSDGTVSHLLNVVESELQAGREKGDPTEKQLQIILEDAPLWQRFKEVTNEMIVTKNGRRM      1 - 70
FPVLKISVTGLDPNAMYSLLLDFVPTDSHRWKYVNGEWVPAGKPEVSSHSCVYIHPDSPNFGAHWMKAPI     71 - 140
SFSKVKLTNKLNGGGQIMLNSLHKYEPQVHIVRVGSAHRMVTNCSFPETQFIAVTAYQNEEITALKIKYN    141 - 210
PFAKAFLDAKERNHLRDVPEAISESQHVTYSHLGGWIFSNPDGVCTAGNSNYQYAAPLPLPAPHTHHGCE    211 - 280
HYSGLRGHRQAPYPSAYMHRNHSPSVNLIESSSNNLQVFSGPDSWTSLSSTPHASILSVPHTNGPINPGP    281 - 350
SPYPCLWTISNGAGGPSGPGPEVHASTPGAFLLGNPAVTSPPSVLSTQAPTSAGVEVLGEPSLTSIAVST    351 - 420
WTAVASHPFAGWGGPGAGGHHSPSSLDG                                              421 - 448
//

Text Mined References (22)

PMID Year Title
22193973 2012 Identification of TPIT and other novel autoantigens in lymphocytic hypophysitis: immunoscreening of a pituitary cDNA library and development of immunoprecipitation assays.
22170728 2012 Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations.
21622576 2011 The Ets factor Etv1 interacts with Tpit protein for pituitary pro-opiomelanocortin (POMC) gene transcription.
19536175 2009 Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.
19064610 2009 Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17652218 2007 The TPIT gene mutation M86R associated with isolated adrenocorticotropin deficiency interferes with protein: protein interactions.
16899054 2007 Genetic variation in the hypothalamic-pituitary-adrenocortical axis regulatory factor, T-box 19, and the angry/hostility personality trait.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16390921 2006 Low estriol levels in the maternal triple-marker screen as a predictor of isolated adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT gene.
15666849 2004 A neonatal form of isolated ACTH deficiency frequently associated with Tpit gene mutations.
15613420 2005 Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15476446 2004 TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12970370 2003 The T-box factor Tpit recruits SRC/p160 co-activators and mediates hormone action.
12651892 2003 Tpit determines alternate fates during pituitary cell differentiation.
12651888 2003 Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11916612 2002 T-box and isolated ACTH deficiency.
11290323 2001 A pituitary cell-restricted T box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins.
9888994 1999 Identification, mapping, and phylogenomic analysis of four new human members of the T-box gene family: EOMES, TBX6, TBX18, and TBX19.