Cdc73 cell division cycle 73, Paf1/RNA polymerase II complex component [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cdc73provided by MGI
Official Full Name: cell division cycle 73, Paf1/RNA polymerase II complex componentprovided by MGI
Primary source: MGI:MGI:2384876
See related: Ensembl:ENSMUSG00000026361 AllianceGenome:MGI:2384876
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Hrpt2; 8430414L16Rik; C130030P16Rik
Summary: Predicted to enable RNA polymerase II complex binding activity. Involved in several processes, including cellular response to lipopolysaccharide; endodermal cell fate commitment; and negative regulation of transcription by RNA polymerase II. Acts upstream of or within negative regulation of apoptotic process; regulation of cell growth; and regulation of transcription by RNA polymerase II. Predicted to be located in cytosol and nucleoplasm. Predicted to be part of Cdc73/Paf1 complex. Is expressed in several structures, including alimentary system; central nervous system; eye; genitourinary system; and respiratory system. Used to study hyperparathyroidism. Human ortholog(s) of this gene implicated in hyperparathyroidism and parathyroid carcinoma. Orthologous to human CDC73 (cell division cycle 73). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in placenta adult (RPKM 8.5), CNS E11.5 (RPKM 3.0) and 19 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 F; 1 62.52 cM

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (143479014..143578631, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (143603276..143702893, complement)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cell division cycle 73 (CDC73) Is esential for embryonic and adult matopoiesis and Indispensable for acute myeloid leukemia (AML)
Title: The PAF1c Subunit CDC73 Is Required for Mouse Hematopoietic Stem Cell Maintenance but Displays Leukemia-Specific Gene Regulation.
Uterine neoplasms, myometria and jaw bones of Cdc73(+/-) mice had increased proliferation rates that were 2-fold higher than in Cdc73(+/+) mice.
Title: Mice deleted for cell division cycle 73 gene develop parathyroid and uterine tumours: model for the hyperparathyroidism-jaw tumour syndrome.
These results aid in our understanding of the role parafibromin plays within transcriptional regulation, terminal differentiation, and bone homeostasis
Title: Osteoblast-specific deletion of Hrpt2/Cdc73 results in high bone mass and increased bone turnover.
Data indicate that isruption of the MLL-PAFc subunit, Cdc73 (Hrpt2) interaction selectively inhibits the proliferation of MLL leukemic cells.
Title: MLL fusion protein-driven AML is selectively inhibited by targeted disruption of the MLL-PAFc interaction.
Oncogenic microRNA-155 down-regulates tumor suppressor CDC73 and promotes oral squamous cell carcinoma cell proliferation
Title: Oncogenic microRNA-155 down-regulates tumor suppressor CDC73 and promotes oral squamous cell carcinoma cell proliferation: implications for cancer therapeutics.
Expression of Hrpt2 and parafibromin is pivotal in mammalian development and survival in adults and that these functions are likely mediated by the transcriptional regulation of growth factors.
Title: Parafibromin, a component of the human PAF complex, regulates growth factors and is required for embryonic development and survival in adult mice.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Gene trapped (1) 1 citation
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH142465 (e-PCR)
- UniSTS:231712

UniSTS:495935 (e-PCR)
- UniSTS:495935

B3galt2 (e-PCR), detects polymorphism
- UniSTS:495935

HRPT2__6588 (e-PCR)
- UniSTS:463990

RH127034 (e-PCR)
- UniSTS:207227

RH142331 (e-PCR)
- UniSTS:231578

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables RNA polymerase II complex binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II complex binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II complex binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in cellular response to lipopolysaccharide	IDA Inferred from Direct Assay more info	PubMed
involved_in endodermal cell fate commitment	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mRNA 3'-end processing	ISO Inferred from Sequence Orthology more info
involved_in mRNA 3'-end processing	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of G1/S transition of mitotic cell cycle	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of G1/S transition of mitotic cell cycle	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of epithelial cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of fibroblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of fibroblast proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of myeloid cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of myeloid cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of Wnt signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell cycle G1/S phase transition	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell cycle G1/S phase transition	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of mRNA 3'-end processing	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of mRNA 3'-end processing	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription elongation by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein destabilization	IEA Inferred from Electronic Annotation more info
involved_in protein destabilization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of cell growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in stem cell population maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transcription elongation by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of Cdc73/Paf1 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Cdc73/Paf1 complex	ISO Inferred from Sequence Orthology more info
part_of Cdc73/Paf1 complex	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: parafibromin

Names: cell division cycle protein 73 homolog; hyperparathyroidism 2 protein homolog

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_145991.2 → NP_666103.1 parafibromin

See identical proteins and their annotated locations for NP_666103.1

Status: VALIDATED

Source sequence(s)

AK048027, AK080861, AK134896, AK153645, AL592403, BB645172

Consensus CDS

CCDS15341.1

UniProtKB/Swiss-Prot

Q8JZM7

Related

ENSMUSP00000018337.8, ENSMUST00000018337.9

Conserved Domains (2) summary

pfam05179
Location:357 → 520

CDC73_C; RNA pol II accessory factor, Cdc73 family, C-terminal

pfam16050
Location:1 → 297

CDC73_N; Paf1 complex subunit CDC73 N-terminal

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000067.7 Reference GRCm39 C57BL/6J

Range

143479014..143578631 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006529366.4 → XP_006529429.1 parafibromin isoform X2

Conserved Domains (1) summary

pfam16050
Location:1 → 297

CDC73_N; Paf1 complex subunit CDC73 N-terminal
XM_006529365.2 → XP_006529428.1 parafibromin isoform X1

Conserved Domains (1) summary

pfam16050
Location:1 → 297

CDC73_N; Paf1 complex subunit CDC73 N-terminal