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

Gene ID: 79577, updated on 14-Apr-2018
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]
Expression
Ubiquitous expression in thyroid (RPKM 11.2), prostate (RPKM 9.6) and 25 other tissues See more
Orthologs
Location:
1q31.2
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 TROVE domain family member 2 Neighboring gene uncharacterized LOC101929160 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
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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 IBA
Inferred from Biological aspect of Ancestor
more info
 
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 by RNA polymerase II 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 by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription elongation from RNA polymerase II promoter IBA
Inferred from Biological aspect of Ancestor
more info
 
positive regulation of transcription elongation 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 by RNA polymerase II TAS
Traceable Author Statement
more info
 
transcription elongation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Cdc73/Paf1 complex IBA
Inferred from Biological aspect of Ancestor
more info
 
Cdc73/Paf1 complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
nuclear chromosome, telomeric region HDA 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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_006711537.4XP_006711600.1  parafibromin isoform X1

    See identical proteins and their annotated locations for XP_006711600.1

    Related
    ENSP00000496633.1, ENST00000643006.1
    Conserved Domains (1) summary
    pfam16050
    Location:1297
    CDC73_N; Paf1 complex subunit CDC73 N-terminal
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