PSMB8
entrez
5696
canonical
uniprot
P28062
canonical
ensembl
ENSG00000204264
resolver
ensembl
ENSG00000206298
resolver
ensembl
ENSG00000226201
resolver
ensembl
ENSG00000230034
resolver
ensembl
ENSG00000230669
resolver
ensembl
ENSG00000231631
resolver
ensembl
ENSG00000235715
resolver
ensembl
ENSG00000236443
resolver
ensp
ENSP00000364015
resolver
ensp
ENSP00000364016
resolver
genesymbol
PSMB8
resolver
genesymbol_syn
LMP7
resolver
genesymbol_syn
PSMB5i
resolver
genesymbol_syn
RING10
resolver
genesymbol_syn
Y2
resolver
hgnc
HGNC:9545
resolver
uniprot
B0UZC0
resolver
uniprot
Q29824
resolver
uniprot
Q5JNW6
resolver
uniprot
Q5QNR8
resolver
uniprot
Q96J48
resolver
uniprot_entry
PSB8_HUMAN
resolver
uniprot_sec
B0UZC0
resolver
uniprot_sec
Q29824
resolver
uniprot_sec
Q5JNW6
resolver
uniprot_sec
Q5QNR8
resolver
uniprot_sec
Q96J48
resolver
amino_acid_sequence
MALLDVCGAPRGQRPESALPVAGSGRRSDPGHYSFSMRSPELALPRGMQPTEFFQSLGGDGERNVQIEMAHGTTTLAFKFQHGVIAAVDSRASAGSYISALRVNKVIEINPYLLGTMSGCAADCQYWERLLAKECRLYYLRNGERISVSAASKLLSNMMCQYRGMGLSMGSMICGWDKKGPGLYYVDEHGTRLSGNMFSTGSGNTYAYGVMDSGYRPNLSPEEAYDLGRRAIAYATHRDSYSGGVVNMYHMKEDGWVKVESTDVSDLLHQYREANQ
uniprot
proteins
disease_involvement
DISEASE: Proteasome-associated autoinflammatory syndrome 1 (PRAAS1) [MIM:256040]: An autosomal recessive autoinflammatory disorder characterized by early childhood onset of recurrent fever, joint stiffness and severe contractures of the hands and feet, and erythematous skin lesions with subsequent development of lipodystrophy and laboratory evidence of immune dysregulation. Accompanying features may include muscle weakness and atrophy, hepatosplenomegaly, and microcytic anemia. {ECO:0000269|PubMed:21129723, ECO:0000269|PubMed:21852578, ECO:0000269|PubMed:21881205, ECO:0000269|PubMed:21953331, ECO:0000269|PubMed:26524591, ECO:0000269|PubMed:26567544}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.25.1
uniprot
proteins
function
FUNCTION: The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. This subunit is involved in antigen processing to generate class I binding peptides. Replacement of PSMB5 by PSMB8 increases the capacity of the immunoproteasome to cleave model peptides after hydrophobic and basic residues. Involved in the generation of spliced peptides resulting from the ligation of two separate proteasomal cleavage products that are not contiguous in the parental protein (PubMed:27049119). Acts as a major component of interferon gamma-induced sensitivity. Plays a key role in apoptosis via the degradation of the apoptotic inhibitor MCL1. May be involved in the inflammatory response pathway. In cancer cells, substitution of isoform 1 (E2) by isoform 2 (E1) results in immunoproteasome deficiency. Required for the differentiation of preadipocytes into adipocytes. {ECO:0000269|PubMed:16423992, ECO:0000269|PubMed:19443843, ECO:0000269|PubMed:21881205, ECO:0000269|PubMed:27049119, ECO:0000269|PubMed:8163024}.
uniprot
proteins
mass_dalton
30354
uniprot
proteins
post_translational_modification
PTM: Autocleaved. The resulting N-terminal Thr residue of the mature subunit is responsible for the nucleophile proteolytic activity. {ECO:0000250|UniProtKB:O35955}.
uniprot
proteins
protein_family
Peptidase T1B family
uniprot
proteins
pubmed
11493458
uniprot
proteins
pubmed
11717192
uniprot
proteins
pubmed
1429565
uniprot
proteins
pubmed
1453454
uniprot
proteins
pubmed
14550573
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15488952
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15501285
uniprot
proteins
pubmed
15907481
uniprot
proteins
pubmed
15944226
uniprot
proteins
pubmed
16423992
uniprot
proteins
pubmed
17142736
uniprot
proteins
pubmed
17262812
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
1922342
uniprot
proteins
pubmed
19443843
uniprot
proteins
pubmed
19525961
uniprot
proteins
pubmed
19619915
uniprot
proteins
pubmed
21129723
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21852578
uniprot
proteins
pubmed
21881205
uniprot
proteins
pubmed
21953331
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26524591
uniprot
proteins
pubmed
26567544
uniprot
proteins
pubmed
26829627
uniprot
proteins
pubmed
27049119
uniprot
proteins
pubmed
8163024
uniprot
proteins
pubmed
8344725
uniprot
proteins
pubmed
8458375
uniprot
proteins
pubmed
8568858
uniprot
proteins
pubmed
8663318
uniprot
proteins
pubmed
9157092
uniprot
proteins
sequence_length
276
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|PROSITE-ProRule:PRU00809}. Nucleus {ECO:0000250}.
uniprot
proteins