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; 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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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