RBCC Red Blood Cell Collection

PSB8_HUMAN

Source: PM19886704
PM23856902
PM22954596
Marked as 'Non-membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: PSMB8 , LMP7, PSMB5i, RING10, Y2
Protein names and data: PSB8_HUMAN , Proteasome subunit beta type-8; 3.4.25.1 , Low molecular mass protein 7; Macropain subunit C13; Multicatalytic endopeptidase complex subunit C13; Proteasome component C13; Proteasome subunit beta-5i; Really interesting new gene 10 protein; Flags: Precursor Lenght: 276 a.a.
Mass: 30354 Da
fasta formatted sequence
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. 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.
Catalytic activity: Cleavage of peptide bonds with very broad specificity.
Disease: ( OMIM: 177046 256040 ) Nakajo syndrome (NKJO) [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. Note=The disease is caused by mutations affecting the gene represented in this entry. Note=Mutation Met-75 has been found in chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE syndrome). CANDLE patients have some overlapping features with NKJO patients, including a cutaneous eruption and lipodystrophy. They show a characteristic neutrophilic dermatosis with a mononuclear interstitial infiltrate in the dermis that seems pathognomonic for CANDLE syndrome (PubMed:21953331).
Cellular location: Cytoplasm (By similarity). Nucleus (By similarity).

Genetic variants

8 - 8 G -> R (in LMP7C; dbSNP:rs114772012). VAR_006488 114772012
30 - 32 PGH -> RPD (in LPM7C). VAR_006489
49 - 49 Q -> K (in dbSNP:rs2071543). VAR_065204 2071543
74 - 74 T -> S (in dbSNP:rs17220206). VAR_057046 17220206
75 - 75 T -> M (in NKJO; also found in patients with CANDLE syndrome; markedly decreased chymotrypsin-like activity consistent with a decrease in proteasomal activity and loss of function). VAR_065291
201 - 201 G -> V (in NKJO; affects immunoproteasome assembly; reduced proteasome levels; reduced chymotrypsin-like activity consistent with a decrease in proteasomal activity). VAR_066449

Database cross-references

UniProt: P28062
Ensembl: ENST00000374881
Ensembl: ENST00000374882
Ensembl: ENST00000383236
Ensembl: ENST00000383238
Ensembl: ENST00000416134
Ensembl: ENST00000416564
Ensembl: ENST00000421445
Ensembl: ENST00000429645
Ensembl: ENST00000435978
Ensembl: ENST00000436627
Ensembl: ENST00000438442
Ensembl: ENST00000441960
Ensembl: ENST00000452573
Ensembl: ENST00000455660
Ensembl: ENST00000457261
Ensembl: ENST00000546794
MIM: 177046
MIM: 256040
neXtProt: NX_P28062
Antibodypedia: P28062 (may not find the protein thus also not any antibody)
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