Property Summary

NCBI Gene PubMed Count 58
Grant Count 84
R01 Count 73
Funding $10,198,176.33
PubMed Score 291.08
PubTator Score 104.38

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (14)

Synonym

Accession P78337 A8K3M0 D3DQB0 O14677 O60425 Q9BTI5
Symbols BFT
CCF
POTX
PTX1
LBNBG

Gene

Gene RIF (33)

PMID Text
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.
More...

AA Sequence

MDAFKGGMSLERLPEGLRPPPPPPHDMGPAFHLARPADPREPLENSASESSDTELPEKERGGEPKGPEDS      1 - 70
GAGGTGCGGADDPAKKKKQRRQRTHFTSQQLQELEATFQRNRYPDMSMREEIAVWTNLTEPRVRVWFKNR     71 - 140
RAKWRKRERNQQLDLCKGGYVPQFSGLVQPYEDVYAAGYSYNNWAAKSLAPAPLSTKSFTFFNSMSPLSS    141 - 210
QSMFSAPSSISSMTMPSSMGPGAVPGMPNSGLNNINNLTGSSLNSAMSPGACPYGTPASPYSVYRDTCNS    211 - 280
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.
More...