Psmc1 protease (prosome, macropain) 26S subunit, ATPase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Psmc1provided by MGI
Official Full Name: protease (prosome, macropain) 26S subunit, ATPase 1provided by MGI
Primary source: MGI:MGI:106054
See related: Ensembl:ENSMUSG00000021178 AllianceGenome:MGI:106054
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: S4; rpt2; P26s4; Rpt2/S4
Summary: Predicted to enable TBP-class protein binding activity and proteasome-activating activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Part of proteasome regulatory particle. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and liver and biliary system. Human ortholog(s) of this gene implicated in neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss. Orthologous to human PSMC1 (proteasome 26S subunit, ATPase 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 65.8), placenta adult (RPKM 52.0) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 E; 12 50.43 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (100076461..100089623)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (100110202..100123364)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: 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?

In Psmc1(+/-)primary mouse embryonic fibroblasts we found decreased PSMC1 protein expression, altered assembly of the 26S proteasome and G2/M cell cycle arrest.
Title: Heterozygosity for the proteasomal Psmc1 ATPase is insufficient to cause neuropathology in mouse brain, but causes cell cycle defects in mouse embryonic fibroblasts.
Caspase-3 cleaves specific 19 S proteasome subunits in skeletal muscle stimulating proteasome activity
Title: Caspase-3 cleaves specific 19 S proteasome subunits in skeletal muscle stimulating proteasome activity.

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Variation

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Alleles

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

Endonuclease-mediated (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

Psmc1 (e-PCR), detects polymorphism
- UniSTS:144278

Psmc1 (e-PCR), detects polymorphism
- UniSTS:144279

AI325227 (e-PCR)
- UniSTS:165838

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables TBP-class protein binding	ISO Inferred from Sequence Orthology more info
enables proteasome-activating activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
part_of proteasome accessory complex	IDA Inferred from Direct Assay more info	PubMed
part_of proteasome complex	ISO Inferred from Sequence Orthology more info
part_of proteasome regulatory particle	IDA Inferred from Direct Assay more info	PubMed
part_of proteasome regulatory particle, base subcomplex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: 26S proteasome regulatory subunit 4

Names: 26S protease regulatory subunit 4; 26S proteasome AAA-ATPase subunit RPT2; proteasome 26S subunit ATPase 1

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.