|Institutional Source||Beutler Lab|
|Gene Name||protease (prosome, macropain) 26S subunit, ATPase 1|
|Synonyms||S4, Rpt2/S4, rpt2, P26s4|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R0534 (G1)|
|Chromosomal Location||100110154-100123405 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 100120130 bp (GRCm38)|
|Amino Acid Change||Isoleucine to Asparagine at position 342 (I342N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021595 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021595]|
AA Change: I342N
PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)
AA Change: I342N
|Meta Mutation Damage Score||0.9247|
|Coding Region Coverage||
|Validation Efficiency||96% (47/49)|
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. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. This subunit and a 20S core alpha subunit interact specifically with the hepatitis B virus X protein, a protein critical to viral replication. This subunit also interacts with the adenovirus E1A protein and this interaction alters the activity of the proteasome. Finally, this subunit interacts with ataxin-7, suggesting a role for the proteasome in the development of spinocerebellar ataxia type 7, a progressive neurodegenerative disorder. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are embryonic lethal. Conditional null in cortical neurons causes neurodegeneration and premature death in several different models. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Psmc1||
(F):5'- TGTCCTTTCAACAGAACGACTGGG -3'
(R):5'- TAGGGAGACAGCCTTGAACTCCTC -3'
(F):5'- TTCAACAGAACGACTGGGTCTTC -3'
(R):5'- tgtggaggtgtgggtgg -3'