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    CDC73 cell division cycle 73 [ Homo sapiens (human) ]

    Gene ID: 79577, updated on 9-Jul-2017
    Official Symbol
    CDC73provided by HGNC
    Official Full Name
    cell division cycle 73provided by HGNC
    Primary source
    HGNC:HGNC:16783
    See related
    Ensembl:ENSG00000134371 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; FIHP; HPTJT; HRPT1; HRPT2; C1orf28
    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]
    Orthologs
    Location:
    1q31.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (193121958..193254815)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (193091088..193223945)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ubiquitin C-terminal hydrolase L5 Neighboring gene uncharacterized LOC101929160 Neighboring gene TROVE domain family member 2 Neighboring gene glutaredoxin 2 Neighboring gene microRNA 1278 Neighboring gene beta-1,3-galactosyltransferase 2 Neighboring gene long intergenic non-protein coding RNA 1031 Neighboring gene ribosomal protein L23a pseudogene 22

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Parathyroid carcinoma
    MedGen: C0687150 OMIM: 608266 GeneReviews: CDC73-Related Disorders
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    NHGRI GWA Catalog
    • E3 ubiquitin ligases ubiquitinate target proteins, organism-specific biosystem (from REACTOME)
      E3 ubiquitin ligases ubiquitinate target proteins, organism-specific biosystemE3 ubiquitin ligases catalyze the transfer of an ubiquitin from an E2-ubiquitin conjugate to a target protein. Generally, ubiquitin is transferred via formation of an amide bond to a particular lysin...
    • Endoderm Differentiation, organism-specific biosystem (from WikiPathways)
      Endoderm Differentiation, organism-specific biosystemModel depicting endoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
    • Formation of RNA Pol II elongation complex, organism-specific biosystem (from REACTOME)
      Formation of RNA Pol II elongation complex, organism-specific biosystemTFIIS is a transcription factor involved in different phases of transcription, occurring in a major ubiquitous form and other tissue specific forms. TFIIS stimulates RNA Pol II complex out of elonga...
    • Formation of the beta-catenin:TCF transactivating complex, organism-specific biosystem (from REACTOME)
      Formation of the beta-catenin:TCF transactivating complex, organism-specific biosystemOnce in the nucleus, beta-catenin is recruited to WNT target genes through interaction with TCF/LEF transcription factors. This family, which consists of TCF7 (also known as TCF1), TCF7L1 (also known...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Hedgehog 'on' state, organism-specific biosystem (from REACTOME)
      Hedgehog 'on' state, organism-specific biosystemHedgehog is a secreted morphogen that has evolutionarily conserved roles in body organization by regulating the activity of the Ci/Gli transcription factor family. In Drosophila in the absence of Hh ...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Protein ubiquitination, organism-specific biosystem (from REACTOME)
      Protein ubiquitination, organism-specific biosystemUbiquitin is a small, 76 amino acid residue protein that is conjugated by E3 ubiquitin ligases to other proteins in order to regulate their function or degradation (enzymatic cascade reviewed in Neut...
    • RNA Polymerase II Pre-transcription Events, organism-specific biosystem (from REACTOME)
      RNA Polymerase II Pre-transcription Events, organism-specific biosystem
      RNA Polymerase II Pre-transcription Events
    • RNA Polymerase II Transcription, organism-specific biosystem (from REACTOME)
      RNA Polymerase II Transcription, organism-specific biosystem
      RNA Polymerase II Transcription
    • RNA Polymerase II Transcription Elongation, organism-specific biosystem (from REACTOME)
      RNA Polymerase II Transcription Elongation, organism-specific biosystemThe mechanisms governing the process of elongation during eukaryotic mRNA synthesis are being unraveled by recent studies. These studies have led to the expected discovery of a diverse collection of ...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Hedgehog, organism-specific biosystem (from REACTOME)
      Signaling by Hedgehog, organism-specific biosystemHedgehog (Hh) is a secreted morphogen that regulates developmental processes in vertebrates including limb bud formation, neural tube patterning, cell growth and differentiation (reviewed in Hui and ...
    • Signaling by Wnt, organism-specific biosystem (from REACTOME)
      Signaling by Wnt, organism-specific biosystemWNT signaling pathways control a wide range of developmental and adult process in metozoans including cell proliferation, cell fate decisions, cell polarity and stem cell maintenance (reviewed in Sai...
    • TCF dependent signaling in response to WNT, organism-specific biosystem (from REACTOME)
      TCF dependent signaling in response to WNT, organism-specific biosystem19 WNT ligands and 10 FZD receptors have been identified in human cells; interactions amongst these ligands and receptors vary in a developmental and tissue-specific manner and lead to activation of ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ23316

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA polymerase II core binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription factor activity, RNA polymerase II transcription factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    beta-catenin-TCF complex assembly TAS
    Traceable Author Statement
    more info
     
    cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to lipopolysaccharide ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    endodermal cell fate commitment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    histone H2B ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone monoubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mRNA polyadenylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of G1/S transition of mitotic cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell proliferation 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 myeloid cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cell cycle G1/S phase transition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of mRNA 3'-end processing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription elongation from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein destabilization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein ubiquitination TAS
    Traceable Author Statement
    more info
     
    recruitment of 3'-end processing factors to RNA polymerase II holoenzyme complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of cell growth IEA
    Inferred from Electronic Annotation
    more info
     
    stem cell population maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transcription elongation from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
     
    transcription from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    Cdc73/Paf1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    nuclear chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    parafibromin
    Names
    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 division cycle protein 73 homolog
    hyperparathyroidism 2 protein

    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), LRG_507

    mRNA and Protein(s)

    1. NM_024529.4NP_078805.3  parafibromin

      See identical proteins and their annotated locations for NP_078805.3

      Status: REVIEWED

      Source sequence(s)
      AI638120, AL139133, BC065037, DC298135
      Consensus CDS
      CCDS1382.1
      UniProtKB/Swiss-Prot
      Q6P1J9
      Related
      ENSP00000356405.3, OTTHUMP00000033765, ENST00000367435.3, OTTHUMT00000086696
      Conserved Domains (2) summary
      pfam05179
      Location:357520
      CDC73_C; RNA pol II accessory factor, Cdc73 family, C-terminal
      pfam16050
      Location:1297
      CDC73_N; Paf1 complex subunit CDC73 N-terminal

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      193121958..193254815
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006711537.3XP_006711600.1  parafibromin isoform X1

      See identical proteins and their annotated locations for XP_006711600.1

      Conserved Domains (1) summary
      pfam16050
      Location:1297
      CDC73_N; Paf1 complex subunit CDC73 N-terminal

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      194512977..194645669
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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