CDC73

Cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae), also known as CDC73 and parafibromin, is a protein which in humans is encoded by the CDC73 gene.[5][6][7]

CDC73
Identifiers
Aliases	CDC73, C1orf28, FIHP, HPTJT, HRPT1, HRPT2, HYX, cell division cycle 73
External IDs	OMIM: 607393 MGI: 2384876 HomoloGene: 11571 GeneCards: CDC73
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q31.2 Start 193,121,958 bp[1] End 193,254,815 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1 F|1 62.52 cM Start 143,598,800 bp[2] End 143,702,893 bp[2]
Gene ontology Molecular function • RNA polymerase II core binding • GO:0001948 protein binding Cellular component • nucleoplasm • Cdc73/Paf1 complex • nuclear chromosome, telomeric region • cell nucleus • cytosol Biological process • histone monoubiquitination • regulation of transcription, DNA-templated • positive regulation of mRNA 3'-end processing • histone modification • negative regulation of transcription from RNA polymerase II promoter • Wnt signaling pathway • transcription, DNA-templated • stem cell population maintenance • negative regulation of G1/S transition of mitotic cell cycle • positive regulation of Wnt signaling pathway • mRNA polyadenylation • endodermal cell fate commitment • protein destabilization • negative regulation of epithelial cell proliferation • cell cycle • histone H2B ubiquitination • cellular response to lipopolysaccharide • negative regulation of myeloid cell differentiation • negative regulation of fibroblast proliferation • positive regulation of transcription elongation from RNA polymerase II promoter • negative regulation of cell proliferation • positive regulation of transcription from RNA polymerase II promoter • beta-catenin-TCF complex assembly • regulation of cell growth • regulation of transcription from RNA polymerase II promoter • transcription from RNA polymerase II promoter • transcription elongation from RNA polymerase II promoter • protein ubiquitination • recruitment of 3'-end processing factors to RNA polymerase II holoenzyme complex • negative regulation of apoptotic process • positive regulation of cell cycle G1/S phase transition Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	79577	214498
Ensembl	ENSG00000134371	ENSMUSG00000026361
UniProt	Q6P1J9	Q8JZM7
RefSeq (mRNA)	NM_024529	NM_145991
RefSeq (protein)	NP_078805	NP_666103
Location (UCSC)	Chr 1: 193.12 – 193.25 Mb	Chr 1: 143.6 – 143.7 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

Parafibromin, LEO1, PAF1, and CTR9 form the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A and with a histone methyltransferase complex.[8]

Clinical significance

Mutations in the CDC73 gene are associated with hyperparathyroidism-jaw tumor syndrome (HPT-JT)[7] and parathyroid carcinomas.[9][10]

See also

• Primary hyperparathyroidism
• Osteitis fibrosa cystica

References

1. GRCh38: Ensembl release 89: ENSG00000134371 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000026361 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: CDC73 Cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)".
6. Sood R, Bonner TI, Makalowska I, Stephan DA, Robbins CM, Connors TD, Morgenbesser SD, Su K, Faruque MU, Pinkett H, Graham C, Baxevanis AD, Klinger KW, Landes GM, Trent JM, Carpten JD (April 2001). "Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus". Genomics. 73 (2): 211–22. doi:10.1006/geno.2001.6500. PMID 11318611.
7. Carpten JD, Robbins CM, Villablanca A, Forsberg L, Presciuttini S, Bailey-Wilson J, Simonds WF, Gillanders EM, Kennedy AM, Chen JD, Agarwal SK, Sood R, Jones MP, Moses TY, Haven C, Petillo D, Leotlela PD, Harding B, Cameron D, Pannett AA, Höög A, Heath H, James-Newton LA, Robinson B, Zarbo RJ, Cavaco BM, Wassif W, Perrier ND, Rosen IB, Kristoffersson U, Turnpenny PD, Farnebo LO, Besser GM, Jackson CE, Morreau H, Trent JM, Thakker RV, Marx SJ, Teh BT, Larsson C, Hobbs MR (December 2002). "HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome". Nat. Genet. 32 (4): 676–80. doi:10.1038/ng1048. PMID 12434154.
8. Rozenblatt-Rosen O, Hughes CM, Nannepaga SJ, Shanmugam KS, Copeland TD, Guszczynski T, Resau JH, Meyerson M (January 2005). "The parafibromin tumor suppressor protein is part of a human Paf1 complex". Mol. Cell. Biol. 25 (2): 612–20. doi:10.1128/MCB.25.2.612-620.2005. PMC 543415. PMID 15632063.
9. Shattuck TM, Välimäki S, Obara T, Gaz RD, Clark OH, Shoback D, Wierman ME, Tojo K, Robbins CM, Carpten JD, Farnebo LO, Larsson C, Arnold A (October 2003). "Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma". N. Engl. J. Med. 349 (18): 1722–9. doi:10.1056/NEJMoa031237. PMID 14585940.
10. Howell VM, Haven CJ, Kahnoski K, Khoo SK, Petillo D, Chen J, Fleuren GJ, Robinson BG, Delbridge LW, Philips J, Nelson AE, Krause U, Hammje K, Dralle H, Hoang-Vu C, Gimm O, Marsh DJ, Morreau H, Teh BT (September 2003). "HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours". J. Med. Genet. 40 (9): 657–63. doi:10.1136/jmg.40.9.657. PMC 1735580. PMID 12960210.

External links

• GeneReviews/NCBI/NIH/UW entry on CDC73-Related Disorders

Further reading

• Szabó J, Heath B, Hill VM, et al. (1995). "Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31". Am. J. Hum. Genet. 56 (4): 944–50. PMC 1801214. PMID 7717405.
• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• Sood R, Bonner TI, Makalowska I, et al. (2001). "Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus". Genomics. 73 (2): 211–22. doi:10.1006/geno.2001.6500. PMID 11318611.
• Hobbs MR, Rosen IB, Jackson CE (2002). "Revised 14.7-cM locus for the hyperparathyroidism-jaw tumor syndrome gene, HRPT2". Am. J. Hum. Genet. 70 (5): 1376–7. doi:10.1086/340093. PMC 447614. PMID 11951180.
• Carpten JD, Robbins CM, Villablanca A, et al. (2003). "HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome". Nat. Genet. 32 (4): 676–80. doi:10.1038/ng1048. PMID 12434154.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Howell VM, Haven CJ, Kahnoski K, et al. (2003). "HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours". J. Med. Genet. 40 (9): 657–63. doi:10.1136/jmg.40.9.657. PMC 1735580. PMID 12960210.
• Shattuck TM, Välimäki S, Obara T, et al. (2003). "Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma". N. Engl. J. Med. 349 (18): 1722–9. doi:10.1056/NEJMoa031237. PMID 14585940.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Simonds WF, Robbins CM, Agarwal SK, et al. (2004). "Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome". J. Clin. Endocrinol. Metab. 89 (1): 96–102. doi:10.1210/jc.2003-030675. PMID 14715834.
• Warner J, Epstein M, Sweet A, et al. (2004). "Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications". J. Med. Genet. 41 (3): 155–60. doi:10.1136/jmg.2003.016725. PMC 1735699. PMID 14985373.
• Villablanca A, Calender A, Forsberg L, et al. (2004). "Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP)". J. Med. Genet. 41 (3): 32e–32. doi:10.1136/jmg.2003.012369. PMC 1735713. PMID 14985403.
• Teh BT, Howell VM, Haven CJ, et al. (2004). "Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome". Hum. Genet. 114 (2): 221. doi:10.1007/s00439-003-1060-z. PMID 15046050.
• Teh BT, Howell VM, Haven CJ, et al. (2004). "Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome". Hum. Genet. 114 (2): 222. doi:10.1007/s00439-003-1060-z. PMID 15046094.
• Teh BT, Howell VM, Haven CJ, et al. (2004). "Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome". Hum. Genet. 114 (2): 222. doi:10.1007/s00439-003-1060-z. PMID 15046098.
• Teh BT, Howell VM, Haven CJ, et al. (2004). "Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome". Hum. Genet. 114 (2): 223. doi:10.1007/s00439-003-1060-z. PMID 15046102.
• Teh BT, Howell VM, Haven CJ, et al. (2004). "Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome". Hum. Genet. 114 (2): 223. doi:10.1007/s00439-003-1060-z. PMID 15046105.
• Teh BT, Howell VM, Haven CJ, et al. (2004). "Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome". Hum. Genet. 114 (2): 223. doi:10.1007/s00439-003-1060-z. PMID 15046107.
• Teh BT, Howell VM, Haven CJ, et al. (2004). "Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome". Hum. Genet. 114 (2): 224. doi:10.1007/s00439-003-1060-z. PMID 15046109.