PSMC3
entrez
5702
canonical
uniprot
P17980
canonical
ensembl
ENSG00000165916
resolver
ensp
ENSP00000298852
resolver
ensp
ENSP00000481029
resolver
enst
ENST00000298852
resolver
enst
ENST00000619920
resolver
genesymbol
PSMC3
resolver
genesymbol_syn
TBP1
resolver
hgnc
HGNC:9549
resolver
uniprot
A0A140VK42
resolver
uniprot
B2R8V1
resolver
uniprot
Q3B757
resolver
uniprot
Q3B865
resolver
uniprot
Q53HU5
resolver
uniprot
Q6GPG8
resolver
uniprot
Q6IBS1
resolver
uniprot
Q96HD3
resolver
uniprot_entry
A0A140VK42_HUMAN
resolver
uniprot_entry
PRS6A_HUMAN
resolver
uniprot_sec
B2R8V1
resolver
uniprot_sec
Q3B757
resolver
uniprot_sec
Q3B865
resolver
uniprot_sec
Q53HU5
resolver
uniprot_sec
Q6GPG8
resolver
uniprot_sec
Q6IBS1
resolver
uniprot_sec
Q96HD3
resolver
amino_acid_sequence
MNLLPNIESPVTRQEKMATVWDEAEQDGIGEEVLKMSTEEIIQRTRLLDSEIKIMKSEVLRVTHELQAMKDKIKENSEKIKVNKTLPYLVSNVIELLDVDPNDQEEDGANIDLDSQRKGKCAVIKTSTRQTYFLPVIGLVDAEKLKPGDLVGVNKDSYLILETLPTEYDSRVKAMEVDERPTEQYSDIGGLDKQIQELVEAIVLPMNHKEKFENLGIQPPKGVLMYGPPGTGKTLLARACAAQTKATFLKLAGPQLVQMFIGDGAKLVRDAFALAKEKAPSIIFIDELDAIGTKRFDSEKAGDREVQRTMLELLNQLDGFQPNTQVKVIAATNRVDILDPALLRSGRLDRKIEFPMPNEEARARIMQIHSRKMNVSPDVNYEELARCTDDFNGAQCKAVCVEAGMIALRRGATELTHEDYMEGILEVQAKKKANLQYYA
uniprot
proteins
disease_involvement
DISEASE: Deafness, cataract, impaired intellectual development, and polyneuropathy (DCIDP) [MIM:619354]: An autosomal recessive disease characterized by early onset of deafness, cataract, severe developmental delay, and severely impaired intellectual development. Patients later develop polyneuropathy of the lower extremities, associated with depigmentation of the hair in that area. {ECO:0000269|PubMed:32500975}. Note=The disease may be caused by variants affecting the gene represented in this entry.; DISEASE: Ebstein-Bezieau neurodevelopmental syndrome (EBNDS) [MIM:621539]: An autosomal dominant disorder characterized by developmental delay, intellectual disability, speech delay, and congenital malformations including skeletal and cardiac defects. {ECO:0000269|PubMed:37256937}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC3 belongs to the heterohexameric ring of AAA (ATPases associated with diverse cellular activities) proteins that unfolds ubiquitinated target proteins that are concurrently translocated into a proteolytic chamber and degraded into peptides. {ECO:0000269|PubMed:1317798}.
uniprot
proteins
mass_dalton
49204
uniprot
proteins
post_translational_modification
PTM: Sumoylated by UBE2I in response to MEKK1-mediated stimuli. {ECO:0000269|PubMed:17709345}.
uniprot
proteins
protein_family
AAA ATPase family
uniprot
proteins
pubmed
1317798
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15831487
uniprot
proteins
pubmed
17323924
uniprot
proteins
pubmed
17709345
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
2194290
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
27342858
uniprot
proteins
pubmed
27428775
uniprot
proteins
pubmed
32500975
uniprot
proteins
pubmed
37256937
uniprot
proteins
pubmed
8419915
uniprot
proteins
pubmed
8621709
uniprot
proteins
sequence_length
439
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}. Nucleus {ECO:0000305}. Note=Colocalizes with TRIM5 in the cytoplasmic bodies. {ECO:0000250|UniProtKB:O88685}.
uniprot
proteins