CDC73

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CDC73
Identifiers
Aliases CDC73, C1orf28, FIHP, HPTJT, HRPT1, HRPT2, HYX, cell division cycle 73
External IDs MGI: 2384876 HomoloGene: 11571 GeneCards: CDC73
Gene location (Human)
Chromosome 1 (human)
Chr. Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for CDC73
Genomic location for CDC73
Band 1q31.2 Start 193,121,997 bp[1]
End 193,253,901 bp[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
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

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[edit]

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[edit]

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

See also[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000134371 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026361 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  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. ^ a b 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 543415Freely accessible. 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 1735580Freely accessible. PMID 12960210. 

External links[edit]

Further reading[edit]