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    CDC73 cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) [ Homo sapiens ]

    Gene ID: 79577, updated on 11-May-2012
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    Summary

    Official Symbol
    CDC73provided by HGNC
    Official Full Name
    cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)provided by HGNC
    Primary source
    HGNC:16783
    See related
    Ensembl:ENSG00000134371; HPRD:09581; MIM:607393; Vega:OTTHUMG00000035676
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HYX; HPTJT; HRPT2; C1orf28; FLJ23316
    Summary
    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 methyltransferase complex. This protein appears to facilitate the association of 3' mRNA processing factors with actively-transcribed chromatin. Mutations in this gene have been linked to hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism, and parathyroid carcinoma. [provided by RefSeq, Jul 2009]
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    Genomic context

    Location :
    1q25
    Sequence :
    Chromosome: 1; NC_000001.10 (193091088..193223945)
    See CDC73 in Epigenomics, MapViewer

    Chromosome 1 - NC_000001.10Genomic Context describing neighboring genes Neighboring gene ubiquitin carboxyl-terminal hydrolase L5 Neighboring gene TROVE domain family, member 2 Neighboring gene glutaredoxin 2 Neighboring gene microRNA 1278 Neighboring gene UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2 Neighboring gene ribosomal protein L23a pseudogene 22 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 14

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. The tumor suppressor CDC73 interacts with the ring finger proteins RNF20 and RNF40 and is required for the maintenance of histone 2B monoubiquitination. Hahn MA, et al. Hum Mol Genet, 2012 Feb 1. PMID 22021426.
    2. Global identification of modular cullin-RING ligase substrates. Emanuele MJ, et al. Cell, 2011 Oct 14. PMID 21963094.
    3. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    4. A directed protein interaction network for investigating intracellular signal transduction. Vinayagam A, et al. Sci Signal, 2011 Sep 6. PMID 21900206.
    5. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.

    See all (86) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. identified one novel germline mutation CDC73 NM_024529.4: c.1475G > A; NP_078805.3: p.Trp492X and one novel somatic mutation CDC73 NM_024529.4: c.142G > T; NP_078805.3: p.Glu48X associated with parathyroid neoplasm
      Title: Novel nonsense CDC73 mutations in Chinese patients with parathyroid tumors.
    2. These results suggest that not only HRPT2 but also MEN1 mutations may play a role in sporadic parathyroid cancer formation.
      Title: Identification of MEN1 and HRPT2 somatic mutations in paraffin-embedded (sporadic) parathyroid carcinomas.
    3. Mutational analysis of the CDC73 gene identified 8 sequence changes, 3 of them have been reported previously, whereas 5 are novel: c.1346delG, c.88_94delTTCTCCT, non-coding variants, c.307+5G>T and c.424-5T>C and c.*12C>A of unknown significance.
      Title: CDC73-related hereditary hyperparathyroidism: five new mutations and the clinical spectrum.
    4. Parafibromin expression could be employed to indicate the favorable prognosis of patients with adenocarcinoma.
      Title: Parafibromin expression in lung normal tissue and carcinoma: its comparison with clinicopathological parameters of carcinoma.
    5. It was suggested that parafibromin overexpression might suppress cell cycle progression and promote differentiation of DLD-1 cells.
      Title: Parafibromin expression is an independent prognostic factor for colorectal carcinomas.
    6. The demonstrated absence of nucleolar parafibromin in three carcinomas with HRPT2 mutations suggests that parafibromin exhibits nucleolar tumour suppressor properties also in vivo.
      Title: Absence of nucleolar parafibromin immunoreactivity in subsets of parathyroid malignant tumours.
    7. Downregulation of CASR expression and global loss of parafibromin staining are strong negative determinants of prognosis in parathyroid carcinoma
      Title: Downregulation of CASR expression and global loss of parafibromin staining are strong negative determinants of prognosis in parathyroid carcinoma.
    8. Detected HRPT2 mutation in parathyroid carcinoma or atypical parathyroid adenoma in sporadic hyperparathyroidism in Thai patients.
      Title: Sensitivity of HRPT2 mutation screening to detect parathyroid carcinoma and atypical parathyroid adenoma of Thai patients.
    9. The present data suggests that patients with apparently sporadic parathyroid carcinomas, or parathyroid tumors with atypical histological features, should undergo molecular genetic testing, as it may detect germline HRPT2 mutations.
      Title: Identification of de novo germline mutations in the HRPT2 gene in two apparently sporadic cases with challenging parathyroid tumor diagnoses.
    10. HRPT2 (replaced with this gene ID 79577) gene mutation may be associated with tumor recurrence.
      Title: The surgical strategy and the molecular analysis of patients with parathyroid cancer.
    Submit: New GeneRIF Correction See all (59)
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Hyperparathyroidism, familial primary

    Parathyroid adenoma with cystic changes

    Parathyroid carcinoma

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q6P1J9 P08133 ANXA6    HPRD  PubMed  
    Q6P1J9 P35222 CTNNB1    HPRD  PubMed  
    Q6P1J9 P02774 GC    HPRD  PubMed  
    Q6P1J9 P34932 HSPA4    HPRD  PubMed  
    Q6P1J9 Q12809 KCNH2    HPRD  PubMed  
    Q6P1J9 KIDINS220 KIDINS220    HPRD  PubMed  
    Q6P1J9 HT014 PITHD1    HPRD  PubMed  
    Q6P1J9 P15884 TCF4    HPRD  PubMed  
    Q6P1J9 Q15388 TOMM20    HPRD  PubMed  
    Q6P1J9 Q8IX03 WWC1    HPRD  PubMed  
    Q6P1J9 KIAA1549 protein     HPRD  PubMed  
    BioGRID:122724 BioGRID:106806 ANXA6    BioGRID  PubMed Two-hybrid 
    BioGRID:122724 BioGRID:114528 ASH2L    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:122724 BioGRID:107459 CDK9    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:122724 BioGRID:123234 CEP70    BioGRID  PubMed Two-hybrid 
    BioGRID:122724 BioGRID:118946 CPSF1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:122724 BioGRID:119826 CPSF2    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:122724 BioGRID:119680 CPSF3    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:122724 BioGRID:116104 CPSF4    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:122724 BioGRID:107860 CSTF2    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:122724 BioGRID:107861 CSTF3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:122724 BioGRID:115004 CTR9    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:122724 BioGRID:117107 DDAH2    BioGRID  PubMed Two-hybrid 
    BioGRID:122724 BioGRID:116298 FAF1    BioGRID  PubMed Two-hybrid 
    BioGRID:122724 BioGRID:108908 GC    BioGRID  PubMed Two-hybrid 
    BioGRID:122724 BioGRID:114480 HAP1    BioGRID  PubMed Two-hybrid 
    BioGRID:122724 BioGRID:116260 HSF2BP    BioGRID  PubMed Two-hybrid 
    BioGRID:122724 BioGRID:109552 HSP90AA1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:122724 BioGRID:109540 HSPA4    BioGRID  PubMed Two-hybrid 
    BioGRID:122724 BioGRID:123507 ITFG1    BioGRID  PubMed Two-hybrid 
    BioGRID:122724 BioGRID:109959 KCNH2    BioGRID  PubMed Two-hybrid 
    BioGRID:122724 BioGRID:125817 LEO1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:122724 BioGRID:114406 MCM3AP    BioGRID  PubMed Two-hybrid 
    BioGRID:122724 BioGRID:121122 MEPCE    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:122724 BioGRID:110443 MLL    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:122724 BioGRID:121835 MLL3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:122724 BioGRID:120081 PAF1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:122724 BioGRID:121363 PITHD1    BioGRID  PubMed Two-hybrid 
    BioGRID:122724 BioGRID:111426 POLR2A    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:122724 BioGRID:111839 RANBP2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:122724 BioGRID:111864 RBBP5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:122724 BioGRID:121119 RNF20    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:122724 BioGRID:115149 RNF40    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:122724 BioGRID:115912 RRAGA    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:122724 BioGRID:116780 RTF1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:122724 BioGRID:112497 SUMO2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:122724 BioGRID:112779 TCEA1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:122724 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:122724 BioGRID:123255 WDR61    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:122724 BioGRID:116884 WWC1    BioGRID  PubMed Two-hybrid 
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    General gene information

    Markers

    Genotypes

    Homology

    • Homologs of the CDC73 gene: The CDC73 gene is conserved in chimpanzee, , dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, A.thaliana, and rice.
    • Map Viewer (Mouse, Rat)

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    histone H2B ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    histone monoubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    negative regulation of epithelial cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    negative regulation of fibroblast proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    negative regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    protein destabilization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    transcription, DNA-dependent IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    Cdc73/Paf1 complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    parafibromin
    Names
    parafibromin
    hyperparathyroidism 2 protein
    cell division cycle protein 73 homolog
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012691.1 RefSeqGene

      Range
      5001..137858
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_024529.4 → NP_078805.3  parafibromin

      Status: REVIEWED

      Source sequence(s)
      AI638120, AL139133, BC065037, DC298135
      Consensus CDS
      CCDS1382.1
      UniProtKB/Swiss-Prot
      Q6P1J9
      Related
      ENSP00000356405, OTTHUMP00000033765, ENST00000367435, OTTHUMT00000086696
      Conserved Domains (1) summary
      cl02149
      Location:233 – 525
      Blast Score: 906
      CDC73; RNA pol II accessory factor, Cdc73 family

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000001.10 Reference GRCh37.p5 Primary Assembly

      Range
      193091088..193223945
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000133.1 Alternate HuRef

      Range
      164326911..164459852
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL139133.8 CAH71049.1
    genomic AL390863.9 CAH71589.1
    genomic CH471067.1 EAW91250.1
    mRNA AF312865.1 AAG45339.1
    mRNA AI638120.1 None
    mRNA AK026969.1 BAB15608.1
    mRNA AK226038.1 None
    mRNA AK300929.1 BAG62559.1
    mRNA AK314772.1 BAG37309.1
    mRNA BC007325.2 AAH07325.1
    mRNA BC013075.1 None
    mRNA BC014351.1 AAH14351.2
    mRNA BC065037.1 AAH65037.1
    mRNA BM471846.1 None
    mRNA BU428536.1 None
    mRNA DC298135.1 None
    other-genetic EU831787.1 ACE87305.1
    other-genetic EU831865.1 ACE86624.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P1J9.1 GenPept UniProtKB/Swiss-Prot:Q6P1J9
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Links

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