PSMB1
entrez
5689
canonical
uniprot
P20618
canonical
ensembl
ENSG00000008018
resolver
ensp
ENSP00000262193
resolver
enst
ENST00000262193
resolver
genesymbol
PSMB1
resolver
genesymbol_syn
PSC5
resolver
hgnc
HGNC:9537
resolver
uniprot
A0A140VK45
resolver
uniprot
B5BU76
resolver
uniprot
Q9BWA8
resolver
uniprot_entry
A0A140VK45_HUMAN
resolver
uniprot_entry
PSB1_HUMAN
resolver
uniprot_sec
B5BU76
resolver
uniprot_sec
Q9BWA8
resolver
amino_acid_sequence
MLSSTAMYSAPGRDLGMEPHRAAGPLQLRFSPYVFNGGTILAIAGEDFAIVASDTRLSEGFSIHTRDSPKCYKLTDKTVIGCSGFHGDCLTLTKIIEARLKMYKHSNNKAMTTGAIAAMLSTILYSRRFFPYYVYNIIGGLDEEGKGAVYSFDPVGSYQRDSFKAGGSASAMLQPLLDNQVGFKNMQNVEHVPLSLDRAMRLVKDVFISAAERDVYTGDALRICIVTKEGIREETVSLRKD
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with microcephaly, hypotonia, and absent language (NEDMHAL) [MIM:620038]: An autosomal recessive disorder characterized by microcephaly, intellectual disability with absent speech, severe developmental delay, short stature, and hypotonia. Affected individuals also manifest aggressive behavior and have hearing loss. {ECO:0000269|PubMed:32129449}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Non-catalytic component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). {ECO:0000269|PubMed:15244466, ECO:0000269|PubMed:27176742, ECO:0000269|PubMed:8610016}.
uniprot
proteins
mass_dalton
26489
uniprot
proteins
protein_family
Peptidase T1B family
uniprot
proteins
pubmed
12181345
uniprot
proteins
pubmed
14550573
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14732874
uniprot
proteins
pubmed
15244466
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17323924
uniprot
proteins
pubmed
19054851
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
2025653
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
2306472
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23495936
uniprot
proteins
pubmed
25599644
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26133119
uniprot
proteins
pubmed
27176742
uniprot
proteins
pubmed
27342858
uniprot
proteins
pubmed
27428775
uniprot
proteins
pubmed
27493187
uniprot
proteins
pubmed
32129449
uniprot
proteins
pubmed
34711951
uniprot
proteins
pubmed
8610016
uniprot
proteins
sequence_length
241
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12181345, ECO:0000269|PubMed:34711951}. Nucleus {ECO:0000269|PubMed:12181345, ECO:0000269|PubMed:34711951}. Note=Translocated from the cytoplasm into the nucleus following interaction with AKIRIN2, which bridges the proteasome with the nuclear import receptor IPO9. {ECO:0000269|PubMed:34711951}.
uniprot
proteins