CDC73

CDC73
Identifiers
Aliases	CDC73 , C1orf28, FIHP, HPTJT, HRPT1, HRPT2, HYX, cell division cycle 73
External IDs	OMIM: 607393; MGI: 2384876; HomoloGene: 11571; GeneCards: CDC73; OMA:CDC73 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) [1] Band 1q31.2 Start 193,121,983 bp [1] End 193,254,815 bp [1]
Gene location (Mouse) Chr. Chromosome 1 (mouse) [2] Band 1 F|1 62.52 cM Start 143,474,538 bp [2] End 143,578,631 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon sural nerve epithelium of colon monocyte ventricular zone islet of Langerhans stromal cell of endometrium gonad tail of epididymis right ventricle Top expressed in tail of embryo genital tubercle ventricular zone seminal vesicula cumulus cell primitive streak epiblast medial ganglionic eminence yolk sac Gonadal ridge More reference expression data BioGPS n/a
Gene ontology Molecular function RNA polymerase II complex binding protein binding Cellular component nucleoplasm Cdc73/Paf1 complex nucleus cytosol Biological process histone monoubiquitination regulation of transcription, DNA-templated positive regulation of mRNA 3'-end processing histone modification negative regulation of transcription by RNA polymerase II 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 population proliferation positive regulation of transcription by RNA polymerase II beta-catenin-TCF complex assembly regulation of cell growth regulation of transcription by RNA polymerase II transcription by RNA polymerase II 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: 143.47 – 143.58 Mb PubMed search [3] [4]
Wikidata
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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]}

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. S2CID   23713328.
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. S2CID   23713328.
• 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. Bibcode:2002PNAS...9916899M. 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. S2CID   266016097.
• 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. S2CID   266016097.
• 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. S2CID   266016097.
• 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. S2CID   266016097.
• 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. S2CID   266016097.
• 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. S2CID   266016097.
• 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. S2CID   266016097.