Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P04637 (p53)
 77,613 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Our previous finding of RTVP1 (GLIPR1) as a p53 target gene with tumor suppressor functions prompted us to initiate a genome-wide sequence homology search for RTVP1/GLIPR1-like (GLIPR1L) genes. In this study we report the identification and characterization of a novel p53 target gene cluster that includes human RTVP1 (hRTVP-1) together with two GLIPR1L genes (GLIPR1L1 and GLIPR1L2) on human chromosome 12q21 and mouse Rtvp1 (mRTVP-1 or Glipr1) together with three Glipr1-like (Glipr1l) genes on mouse chromosome 10D1. GLIPR1L1 has two and GLIPR1L2 has five differentially spliced isoforms. Protein homology search revealed that hRTVP-1 gene cluster members share a high degree of identity and homology. GLIPR1L1 is testis-specific, whereas GLIPR1L2 is expressed in different types of tissues, including prostate and bladder. Like hRTVP-1, GLIPR1L1 and GLIPR1L2 are p53 target genes. The similarities of these novel p53 target gene cluster members in protein structure and their association with p53 suggest that these genes may have similar biological functions.
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PMID:Identification and characterization of RTVP1/GLIPR1-like genes, a novel p53 target gene cluster. 1671 93

Mutations in genes regulating cell cycle and apoptosis are considered major culprits for the malignant transformation of cancer cells. Aberrant activation of the Hedgehog (HH) signaling pathway which primarily regulates genes involved in cell growth, proliferation, survival and apoptosis has been demonstrated in multiple myeloma. Mutations resulting in defective components of the p53 pathway, which serves a critical role in mediating cellular stress response by triggering DNA repair, cell cycle arrest, senescence and apoptosis, have also been identified. This study focuses on detecting copy number variations for the GLIPR1/GLIPR1L1/GLIPR1L2 gene cluster of the p53 pathway and three elements of the HH pathway, SHH, PTCH1 and GLI3 in multiple myeloma (MM) using fluorescence in situ hybridization (FISH). In eighteen samples, there was no evidence of abnormal copy number for PTCH1, GLI3 or SHH. Thus, it is unlikely that copy number variations of these genes are linked to multiple myeloma. However, a deletion of the GLIPR1/GLIPR1L1/ GLIPR1L2 gene cluster, all p53 targets, was found in three of 32 samples (9.4%) indicating that these deleted genes may have significant implications in MM. Further studies should be performed to determine the role of the GLIPR1/GLIPR1L1/GLIPR1L2 gene cluster in the pathogenesis of multiple myeloma.
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PMID:Examining Hedgehog pathway genes GLI3, SHH, and PTCH1 and the p53 target GLIPR1/GLIPR1L1/GLIPR1L2 gene cluster using fluorescence in situ hybridization uncovers GLIPR1/GLIPR1L1/GLIPR1L2 deletion in 9% of patients with multiple myeloma. 2097 42