|Institutional Source||Beutler Lab|
|Gene Name||proteasome (prosome, macropain) 26S subunit, ATPase, 4|
|Synonyms||CIP21, MIP224, CAR interacting protein 21|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4833 (G1)|
|Chromosomal Location||28041707-28050101 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 28047512 bp (GRCm38)|
|Amino Acid Change||Glycine to Valine at position 77 (G77V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000147018 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032824] [ENSMUST00000140053]|
AA Change: G108V
PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: G108V
AA Change: G77V
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|Meta Mutation Damage Score||0.7875|
|Coding Region Coverage||
|Validation Efficiency||99% (74/75)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the triple-A family of ATPases that is a component of the 19S regulatory subunit and plays a role in 26S proteasome assembly. The encoded protein interacts with gankyrin, a liver oncoprotein, and may also play a role in Parkinson's disease through interactions with synphilin-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos. Mice heterozygous for a knock-out allele and a conditional allele activated in motor neurons develop ALS-like symptoms. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Psmc4||
(F):5'- CACATCTGGCTTCTGGTCTG -3'
(R):5'- CAGAGCTGGACCTCAAGAAG -3'
(F):5'- CTGGTGGGAGAGTGGAGCTAG -3'
(R):5'- CTCAAGAAGGAAGCAGGGCTG -3'