Property Summary

NCBI Gene PubMed Count 58
PubMed Score 291.08
PubTator Score 104.38

Knowledge Summary


No data available


  Differential Expression (14)

Disease log2 FC p
esophageal adenocarcinoma -2.800 2.9e-02
psoriasis 3.200 4.2e-98
medulloblastoma, large-cell 1.900 1.2e-03
fascioscapulohumeral muscular dystrophy 1.124 1.2e-03
non-small cell lung cancer 3.209 9.1e-19
active ulcerative colitis 3.090 9.7e-03
pancreatic cancer 1.200 6.2e-05
lung adenocarcinoma 1.300 3.0e-05
non-inflammatory breast cancer 2.000 1.8e-02
breast carcinoma 1.700 5.4e-37
spina bifida -2.716 3.7e-02
ductal carcinoma in situ 1.700 1.8e-02
invasive ductal carcinoma 1.800 4.6e-02
pituitary cancer 1.300 3.5e-06

Pathway (1)

Gene RIF (33)

26840794 PTP1B dephosphorylates PITX1 to weaken its protein stability and the transcriptional activity for p120RasGAP gene expression
26515020 To date, at least ten loci and four non-syndromic polydactyly-causing genes, including the GLI3 gene, the ZNF141 gene, the MIPOL1 gene and the PITX1 gene, have been identified. (Review)
25936343 Low PITX1 expression is associated with lung metastasis in osteosarcoma.
25558831 PITX1 regulates HIF-1a activity by binding to HIF-1b and regulatingHIF recruitment to specific target promoters.
23940102 We discuss the genetic abnormality that causes Liebenberg syndrome, the genomic rearrangement at the PITX1 locus on chromosome 5.
23816528 Down-regulation of PITX1 expression might contribute to the progression of cutaneous malignant melanoma via promoting cell proliferative activity
23587911 A deletion in H2AFY gene and 190,428bp of its downstream region contains a regulatory sequence that suppresses the expression of PITX1 in the upper limb buds and causes Liebenberg syndrome.
23395106 Lienberg syndrome results from a misexpression of PITX1 in upper extremities.
23206257 DUX4 gene is activated in a small number of myonuclei, the DUX4 proteins diffuse to adjacent nuclei where they activate target genes such as PITX1.
23022097 Identified two deletions and a translocation 5' of PITX1.
22438068 High expression of desmocollin 1 (DSC1) was observed in 41.6%, DSC2 in 58.0%, DSC3 in 61.4%, E-cadherin in 71.4%, CDX2 in 58.0%, PITX1 in 55.0%, CDK4 in 0.2%, TLE1 in 1.3%, Factor H in 42.5%, and MDM2 in 0.2% of colorectal carcinomas.
22258522 mutations in PITX1 can cause a broad spectrum of isolated lower-limb malformations including clubfoot, deficiency of long bones, and mirror-image polydactyly.
21868451 These studies identify PITX1 as a new ERalpha transcriptional target.
21425961 leukemic activation of PITX1, a novice PRD-class homeobox gene in a subset of early-staged T-ALL, which may promote leukemogenesis by inhibiting T-cell development.
21323949 HOXA7, PIXT1 and PRRX1 homeobox genes have different patterns of expression in oral squamous cell carcinomas depending on its histological features.
21300782 PITX1 suppresses TERT transcription through direct binding to the TERT promoter, which ultimately regulates telomerase activity
20634891 Observational study of gene-disease association. (HuGE Navigator)
20563669 These findings provide evidence that c-Abl participates in modulating Pitx1 expression in the apoptotic response to DNA damage.
20498720 SEDLIN is present in the nucleus, forms homodimers and that SEDT-associated mutations cause a loss of interaction with the transcription factors MBP1, PITX1 and SF1.
20054692 Suggest that the PITX1 polymorphism (rs479632) is not a risk factor for knee ostoearthritis susceptibility in the Chinese Han population.
20054692 Observational study of gene-disease association. (HuGE Navigator)
19414376 High BFT expression is associated with non-small cell lung cancer.
18950742 Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation are reported.
18186570 Down-regulation of PITX1 may be a frequent molecular event in gastric carcinogenesis; Aberrant levels of PITX1 expression may be closely correlated with the progression and differentiation of gastric cancer
18053270 Observational study of gene-disease association. (HuGE Navigator)
18053270 Haplotype analys. within PITX1 showed overtransmission of the A-C haplotype of markers rs11959298 - rs6596189. Individuals homozygous for the A-C haplotype risk allele were 2.54 fold more likely to be autistic than indiv. who were not carrying the allele
17984056 up-regulation of both DUX4 and PITX1 in FSHD muscles may play critical roles in the molecular mechanisms of the disease
17762884 p53 is a direct transcriptional target gene of hPitx1. This observation is concordant with the recent identification of hPitx1 as a tumor suppressor gene.
17549029 Pitx1 is expressed in normal human knee joint cartilage and its loss occurs in patients with knee osteoarthritis.
16291394 PITX1 mRNA expression is decreased in Barrett's esophagus, compared with matching normal squamous esophagus specimens, and is further decreased in Barrett's-associated cancer
12915995 this study represents the first demonstration for a role of pituitary homeobox 1 in the regulation of transcription of enzymes involved in adrenal steroidogenesis
12620797 Modulation of interferon expression by co expression of hepatitis C virus NS5A protein and human homeodomain protein PTX1
12223489 the paired-like homeobox transcription factors Pitx1 and Pitx2 are factors functionally activating the proximal human prolactin promoter (hPRL-164luc)

AA Sequence

SLASLRLKSKQHSSFGYGGLQGPASGLNACQYNS                                        281 - 314

Text Mined References (61)

PMID Year Title
26840794 2016 Protein tyrosine phosphatase 1B dephosphorylates PITX1 and regulates p120RasGAP in hepatocellular carcinoma.
26612202 2016 Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD.
26515020 2015 Advances in the molecular genetics of non-syndromic polydactyly.
25936343 2015 Strong expression of paired-like homeodomain transcription factor 1 (PITX1) is associated with a favorable outcome in human osteosarcoma.
25558831 2014 PITX1, a specificity determinant in the HIF-1?-mediated transcriptional response to hypoxia.
25429064 2015 Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
25416956 2014 A proteome-scale map of the human interactome network.
24836286 2014 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
24722188 2014 Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
23940102 2014 The Liebenberg syndrome: in depth analysis of the original family.
23816528 Decreased PITX1 gene expression in human cutaneous malignant melanoma and its clinicopathological significance.
23666240 2013 Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
23587911 2013 Liebenberg syndrome is caused by a deletion upstream to the PITX1 gene resulting in transformation of the upper limbs to reflect lower limb characteristics.
23568457 2013 Genetic variants associated with disordered eating.
23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
23395106 2013 Liebenberg syndrome: case report and insight into molecular basis.
23263487 2013 Genome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer.
23206257 2013 DUX4 expression in FSHD muscle cells: how could such a rare protein cause a myopathy?
23022097 2012 Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22658931 2012 A genome-wide association study of host genetic determinants of the antibody response to Anthrax Vaccine Adsorbed.
22438068 2012 Loss of desmocollin 1-3 and homeobox genes PITX1 and CDX2 are associated with tumor progression and survival in colorectal carcinoma.
22258522 2012 Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly.
21868451 2011 The estrogen-regulated transcription factor PITX1 coordinates gene-specific regulation by estrogen receptor-alpha in breast cancer cells.
21425961 2011 Activation of Paired-homeobox gene PITX1 by del(5)(q31) in T-cell acute lymphoblastic leukemia.
21323949 2011 In situ hybridization detection of homeobox genes reveals distinct expression patterns in oral squamous cell carcinomas.
21300782 2011 Identification of PITX1 as a TERT suppressor gene located on human chromosome 5.
20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
20563669 2010 The c-Abl tyrosine kinase stabilizes Pitx1 in the apoptotic response to DNA damage.
20498720 2010 SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1.
20054692 2011 Genetic polymorphism of PITX1 in susceptibility to knee osteoarthritis in a Chinese Han population: a case-control study.
19414376 2009 The role of the homeobox genes BFT and CDX2 in the pathogenesis of non-small cell lung cancer.
18950742 2008 Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18391951 2008 Many sequence variants affecting diversity of adult human height.
18186570 2008 Expression of pituitary homeobox 1 gene in human gastric carcinogenesis and its clinicopathological significance.
18053270 2007 Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17984056 2007 DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1.
17762884 2007 Transcriptional activation of p53 by Pitx1.
17549029 2007 New emerging role of pitx1 transcription factor in osteoarthritis pathogenesis.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16291394 2005 Increased CDX2 and decreased PITX1 homeobox gene expression in Barrett's esophagus and Barrett's-associated adenocarcinoma.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15372022 2004 The DNA sequence and comparative analysis of human chromosome 5.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12915995 2003 Pituitary homeobox factor 1, a novel transcription factor in the adrenal regulating steroid 11beta-hydroxylase.
12620797 2003 Modulation of interferon expression by hepatitis C virus NS5A protein and human homeodomain protein PTX1.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12223489 2002 Pitx factors are involved in basal and hormone-regulated activity of the human prolactin promoter.
11048804 2000 Expression of pituitary homeo box 1 (Ptx1) in human non-neoplastic pituitaries and pituitary adenomas.
10372733 1999 Expression of the members of the Ptx family of transcription factors in human pituitary adenomas.
10369682 1999 Ptx1 regulates SF-1 activity by an interaction that mimics the role of the ligand-binding domain.
10082522 1999 Egr-1 is a downstream effector of GnRH and synergizes by direct interaction with Ptx1 and SF-1 to enhance luteinizing hormone beta gene transcription.
9343431 1997 NeuroD1/beta2 contributes to cell-specific transcription of the proopiomelanocortin gene.
9337397 1997 Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins syndrome.
9186059 1997 Backfoot is a novel homeobox gene expressed in the mesenchyme of developing hind limb.
9070926 1997 Backfoot, a novel homeobox gene, maps to human chromosome 5 (BFT) and mouse chromosome 13 (Bft).
8755540 1996 P-OTX: a PIT-1-interacting homeodomain factor expressed during anterior pituitary gland development.