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

Gene ID: 79577, updated on 5-Apr-2020

Summary

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
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

Genomic context

See CDC73 in Genome Data Viewer
Location:
1q31.2
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (193122031..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 Ro60, Y RNA binding protein 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

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23316

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA polymerase II complex binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II complex binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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 IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
parafibromin
Names
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 division cycle protein 73 homolog
hyperparathyroidism 2 protein

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), LRG_507

mRNA and Protein(s)

  1. NM_024529.5NP_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, ENST00000367435.4
    Conserved Domains (2) summary
    pfam16050
    Location:1297
    CDC73_N; Paf1 complex subunit CDC73 N-terminal
    pfam05179
    Location:357520
    CDC73_C; RNA pol II accessory factor, Cdc73 family, C-terminal

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    193122031..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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