• Gene id: 79577

Gene Summary

• Gene Symbol: CDC73   Gene   UCSC   Ensembl
• Aliases: C1orf28, FIHP, HPTJT, HRPT1, HRPT2, HYX
• Gene name: cell division cycle 73
• Alternate names: parafibromin, Familial isolated hyperparathyroidism, Paf1/RNA polymerase II complex component, cell division cycle 73 Paf1/RNA polymerase II complex component-like protein, cell division cycle 73, Paf1/RNA polymerase II complex component, homolog, cell divisio,
• Gene location: 1q31.2 (193122030: 193254814)     Exons: 3     NC_000001.11
• Gene summary(Entrez): This gene encodes a tumor suppressor that is involved in transcriptional and post-transcriptional control pathways. The protein is a component of the the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A and with a histone me
• OMIM: 607393

Protein Summary

• Protein general information: Q6P1J9  
  • Name: Parafibromin (Cell division cycle protein 73 homolog) (Hyperparathyroidism 2 protein)
  • Length: 531  
  • Mass: 60577
  • Tissue specificity: Found in adrenal and parathyroid glands, kidney and heart. {ECO
• Sequence:

  MADVLSVLRQYNIQKKEIVVKGDEVIFGEFSWPKNVKTNYVVWGTGKEGQPREYYTLDSILFLLNNVHLSHPVYV
  RRAATENIPVVRRPDRKDLLGYLNGEASTSASIDRSAPLEIGLQRSTQVKRAADEVLAEAKKPRIEDEECVRLDK
  ERLAARLEGHKEGIVQTEQIRSLSEAMSVEKIAAIKAKIMAKKRSTIKTDLDDDITALKQRSFVDAEVDVTRDIV
  SRERVWRTRTTILQSTGKNFSKNIFAILQSVKAREEGRAPEQRPAPNAAPVDPTLRTKQPIPAAYNRYDQERFKG
  KEETEGFKIDTMGTYHGMTLKSVTEGASARKTQTPAAQPVPRPVSQARPPPNQKKGSRTPIIIIPAATTSLITML
  NAKDLLQDLKFVPSDEKKKQGCQRENETLIQRRKDQMQPGGTAISVTVPYRVVDQPLKLMPQDWDRVVAVFVQGP
  AWQFKGWPWLLPDGSPVDIFAKIKAFHLKYDEVRLDPNVQKWDVTVLELSYHKRHLDRPVFLRFWETLDRYMVKH
  KSHLRF

• Structural information:
  • Interpro: IPR007852  IPR031336  IPR038103  IPR032041  
  • PDB: 5YDE 5YDF
  • PDBsum: 5YDE 5YDF
  • DIP: 37884
  • STRING: ENSP00000356405
• Other Databases: GeneCards:  CDC73  Malacards:  CDC73

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032968	positive regulation of transcription elongation from RNA polymerase II promoter	IBA	biological process
GO:0034402	recruitment of 3'-end processing factors to RNA polymerase II holoenzyme complex	IBA	biological process
GO:0016593	Cdc73/Paf1 complex	IBA	cellular component
GO:0000993	RNA polymerase II complex binding	IBA	molecular function
GO:2000134	negative regulation of G1/S transition of mitotic cell cycle	IDA	biological process
GO:0030177	positive regulation of Wnt signaling pathway	IDA	biological process
GO:0008285	negative regulation of cell population proliferation	IDA	biological process
GO:0045638	negative regulation of myeloid cell differentiation	IDA	biological process
GO:0016593	Cdc73/Paf1 complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000993	RNA polymerase II complex binding	IDA	molecular function
GO:0071222	cellular response to lipopolysaccharide	ISS	biological process
GO:0031442	positive regulation of mRNA 3'-end processing	IMP	biological process
GO:0001711	endodermal cell fate commitment	ISS	biological process
GO:1902808	positive regulation of cell cycle G1/S phase transition	IMP	biological process
GO:0019827	stem cell population maintenance	ISS	biological process
GO:0006378	mRNA polyadenylation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016570	histone modification	IEA	biological process
GO:0006368	transcription elongation from RNA polymerase II promoter	IEA	biological process
GO:0016593	Cdc73/Paf1 complex	IEA	cellular component
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006368	transcription elongation from RNA polymerase II promoter	TAS	biological process
GO:0006368	transcription elongation from RNA polymerase II promoter	TAS	biological process
GO:0016567	protein ubiquitination	TAS	biological process
GO:1904837	beta-catenin-TCF complex assembly	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006366	transcription by RNA polymerase II	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001558	regulation of cell growth	IEA	biological process
GO:0001711	endodermal cell fate commitment	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0071222	cellular response to lipopolysaccharide	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0019827	stem cell population maintenance	IEA	biological process
GO:0000784	nuclear chromosome, telomeric region	HDA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006368	transcription elongation from RNA polymerase II promoter	IDA	biological process
GO:0016593	Cdc73/Paf1 complex	IDA	cellular component
GO:0016593	Cdc73/Paf1 complex	IDA	cellular component
GO:0010390	histone monoubiquitination	IDA	biological process
GO:0033523	histone H2B ubiquitination	IDA	biological process
GO:0050680	negative regulation of epithelial cell proliferation	IMP	biological process
GO:0048147	negative regulation of fibroblast proliferation	IMP	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process
GO:0031648	protein destabilization	IMP	biological process

Diseases

Associated diseases	References
Primary hyperparathyroidism	KEGG:H00246
Parathyroid carcinoma	KEGG:H01558
Primary hyperparathyroidism	KEGG:H00246
Parathyroid carcinoma	KEGG:H01558
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray