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CDC73 (Parafibromin) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer, Endometrial cancer, Colorectal cancer and 1 more.
Tumour suppressor probably involved in transcriptional and post-transcriptional control pathways. May be involved in cell cycle progression through the regulation of cyclin D1/PRAD1 expression. Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency.
Open Targets scores its association with cancer at 0.85 (direct and indirect evidence; datatypes genetic literature 0.86, literature 0.93, genetic association 0.76, somatic mutation 0.89, animal model 0.50). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Endometrial Carcinoma.
In plain words · CDC73 (Parafibromin) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer, Endometrial cancer, Colorectal cancer and 1 more.
CDC73 (Parafibromin) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer, Endometrial cancer, Colorectal cancer and 1 more.
Tumour suppressor probably involved in transcriptional and post-transcriptional control pathways. May be involved in cell cycle progression through the regulation of cyclin D1/PRAD1 expression.
No product in this corpus aims at CDC73 yet. Drugs fit a pocket that exists only in one shape of the mutant protein and hold it there, off.
First described 2001. Earliest sequence paper UniProt cites for the protein: Sood et al, Genomics, 2001, "Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus". Source.
Sources: HGNC HGNC:16783 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt Q6P1J9 (protein name, function text, keywords and locations (REST API)); Open Targets ENSG00000134371 (association with cancer (MONDO_0004992) 0.85; per-cancer scores at or above 0.5: colorectal cancer 0.52, breast cancer 0.65, lung cancer 0.51 (GraphQL API, CC0)); IntOGen CDC73 (driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
Tumour suppressor probably involved in transcriptional and post-transcriptional control pathways. May be involved in cell cycle progression through the regulation of cyclin D1/PRAD1 expression. Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and 'Ser-5'-phosphorylated forms and is involved in transcriptional elongation, acting both independently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target genes. PAF1C is involved in haematopoiesis and stimulates transcriptional activity of KMT2A/MLL1; it promotes leukemogenesis through association with KMT2A/MLL1-rearranged oncoproteins, such as KMT2A/MLL1-MLLT3/AF9 and KMT2A/MLL1-MLLT1/ENL. Location: Nucleus (UniProt). Locus 1q31.2 (HGNC).
Query for this target: (TITLE:"CDC73" OR ABSTRACT:"CDC73" OR TITLE:"cell division cycle 73" OR ABSTRACT:"cell division cycle 73" OR TITLE:"Parafibromin" OR ABSTRACT:"Parafibromin" OR TITLE:"parafibromin" OR ABSTRACT:"parafibromin" OR TITLE:"C1orf28" OR ABSTRACT:"C1orf28" OR TITLE:"HRPT2" OR ABSTRACT:"HRPT2") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about CDC73, not a curated reading list.