PSMC1
entrez
5700
canonical
uniprot
P62191
canonical
ensembl
ENSG00000100764
resolver
ensp
ENSP00000261303
resolver
ensp
ENSP00000445147
resolver
genesymbol
PSMC1
resolver
hgnc
HGNC:9547
resolver
uniprot
B4DR63
resolver
uniprot
P49014
resolver
uniprot
Q03527
resolver
uniprot
Q53XL8
resolver
uniprot
Q6IAW0
resolver
uniprot
Q6NW36
resolver
uniprot
Q96AZ3
resolver
uniprot_entry
PRS4_HUMAN
resolver
uniprot_entry
Q53XL8_HUMAN
resolver
uniprot_sec
B4DR63
resolver
uniprot_sec
P49014
resolver
uniprot_sec
Q03527
resolver
uniprot_sec
Q6IAW0
resolver
uniprot_sec
Q6NW36
resolver
uniprot_sec
Q96AZ3
resolver
amino_acid_sequence
MGQSQSGGHGPGGGKKDDKDKKKKYEPPVPTRVGKKKKKTKGPDAASKLPLVTPHTQCRLKLLKLERIKDYLLMEEEFIRNQEQMKPLEEKQEEERSKVDDLRGTPMSVGTLEEIIDDNHAIVSTSVGSEHYVSILSFVDKDLLEPGCSVLLNHKVHAVIGVLMDDTDPLVTVMKVEKAPQETYADIGGLDNQIQEIKESVELPLTHPEYYEEMGIKPPKGVILYGPPGTGKTLLAKAVANQTSATFLRVVGSELIQKYLGDGPKLVRELFRVAEEHAPSIVFIDEIDAIGTKRYDSNSGGEREIQRTMLELLNQLDGFDSRGDVKVIMATNRIETLDPALIRPGRIDRKIEFPLPDEKTKKRIFQIHTSRMTLADDVTLDDLIMAKDDLSGADIKAICTEAGLMALRERRMKVTNEDFKKSKENVLYKKQEGTPEGLYL
uniprot
proteins
disease_involvement
DISEASE: Birk-Aharoni syndrome (BKAH) [MIM:620071]: An autosomal recessive disorder characterized by failure to thrive, severe developmental delay, intellectual disability, spastic tetraplegia with central hypotonia, chorea, hearing loss, micropenis and undescended testes, as well as mild elevation of liver enzymes. {ECO:0000269|PubMed:35861243}. Note=The disease may be 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. PSMC1 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
49185
uniprot
proteins
protein_family
AAA ATPase family
uniprot
proteins
pubmed
11734547
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
1317798
uniprot
proteins
pubmed
1429620
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15144186
uniprot
proteins
pubmed
15358861
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15831487
uniprot
proteins
pubmed
17323924
uniprot
proteins
pubmed
17370265
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25255805
uniprot
proteins
pubmed
25807930
uniprot
proteins
pubmed
27342858
uniprot
proteins
pubmed
27428775
uniprot
proteins
pubmed
35861243
uniprot
proteins
sequence_length
440
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}.
uniprot
proteins