CDC73

CDC73 (Cell Division Cycle 73) is a Protein Coding gene. Diseases associated with CDC73 include Hyperparathyroidism 2 With Jaw Tumors and Parathyroid Carcinoma. Among its related pathways are Metabolism of proteins and Gene Expression. Gene Ontology (GO) annotations related to this gene include RNA polymerase II core binding.

Cell Division Cycle 73

Tumor 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 hematopoiesis 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. PAF1C is involved in histone modifications such as ubiquitination of histone H2B and methylation on histone H3 'Lys-4' (H3K4me3). PAF1C recruits the RNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzyme UBE2A or UBE2B to chromatin which mediate monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1); UB2A/B-mediated H2B ubiquitination is proposed to be coupled to transcription. PAF1C is involved in mRNA 3' end formation probably through association with cleavage and poly(A) factors. In case of infection by influenza A strain H3N2, PAF1C associates with viral NS1 protein, thereby regulating gene transcription. Connects PAF1C with the cleavage and polyadenylation specificity factor (CPSF) complex and the cleavage stimulation factor (CSTF) complex, and with Wnt signaling. Involved in polyadenylation of mRNA precursors.

Beta-catenin-TCF complex assembly Source: Reactome
Cell cycle Source: UniProtKB-KW
Cellular response to lipopolysaccharide Source: UniProtKB
Endodermal cell fate commitment Source: UniProtKB
Histone H2B ubiquitination Source: UniProtKB
Histone monoubiquitination Source: UniProtKB
mRNA polyadenylation Source: UniProtKB
Negative regulation of apoptotic process Source: Ensembl
Negative regulation of cell population proliferation Source: UniProtKB
Negative regulation of epithelial cell proliferation Source: UniProtKB
Negative regulation of fibroblast proliferation Source: UniProtKB
Negative regulation of G1/S transition of mitotic cell cycle Source: UniProtKB
Negative regulation of myeloid cell differentiation Source: UniProtKB
Negative regulation of transcription by RNA polymerase II Source: UniProtKB
Positive regulation of cell cycle G1/S phase transition Source: UniProtKB
Positive regulation of mRNA 3'-end processing Source: UniProtKB
Positive regulation of transcription elongation from RNA polymerase II promoter Source: GO_Central
Positive regulation of Wnt signaling pathway Source: UniProtKB
Protein destabilization Source: UniProtKB
Protein ubiquitination Source: Reactome
Recruitment of 3'-end processing factors to RNA polymerase II holoenzyme complex Source: GO_Central
Regulation of cell growth Source: Ensembl
Stem cell population maintenance Source: UniProtKB
Transcription by RNA polymerase II Source: Reactome
Transcription elongation from RNA polymerase II promoter Source: GO_Central
Wnt signaling pathway Source: UniProtKB-KW

Nucleus

Hyperparathyroidism 1 (HRPT1): An autosomal dominant disorder characterized by hypercalcemia, elevated parathyroid hormone (PTH) levels, and uniglandular or multiglandular parathyroid hyperplasia, adenomas, and carcinomas.
Hyperparathyroidism 2 with jaw tumors (HRPT2): An autosomal dominant neoplasia syndrome characterized by primary hyperparathyroidism, ossifying fibroma of the maxilla and/or mandible, renal tumor, and uterine tumors. It is associated with increased risk of parathyroid cancer.
Parathyroid carcinoma (PRTC): These cancers characteristically result in more profound clinical manifestations of hyperparathyroidism than do parathyroid adenomas, the most frequent cause of primary hyperparathyroidism. Early en bloc resection of the primary tumor is the only curative treatment.

Phosphorylated. Dephosphorylated by PTPN11.