PSMB8 (proteasome 20S subunit beta 8)

Gene Gene information from NCBI Gene database.
Gene SNPs Other IDs Associated diseases
Entrez ID 5696
Gene name Proteasome 20S subunit beta 8
Gene symbol PSMB8
Synonyms (NCBI Gene)
ALDDD6S216D6S216EJMPLMP7NKJOPRAAS1PSMB5iRING10
Chromosome 6
Chromosome location 6p21.32
Summary The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta
SNPs SNP information provided by dbSNP.
1
Gene SNPs Other IDs Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs387906680 C>A,T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
3
Gene SNPs Other IDs Associated diseases
Show/Hide all (3)
miRTarBase ID miRNA Experiments Reference
MIRT029309 hsa-miR-26b-5p Microarray 19088304
MIRT733492 hsa-miR-451a qRT-PCRWestern blotting 34112884
MIRT733492 hsa-miR-451a qRT-PCR 32478410
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
Gene SNPs Other IDs Associated diseases
Show/Hide all (31)
GO ID Ontology Definition Evidence Reference
GO:0000502 Component Proteasome complex IDA 26524591
GO:0000502 Component Proteasome complex IEA
GO:0000502 Component Proteasome complex TAS 8666937
GO:0002376 Process Immune system process IEA
GO:0004175 Function Endopeptidase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
177046 9545 ENSG00000204264
Protein Protein information from UniProt database.
Gene SNPs Other IDs Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P28062
Protein name Proteasome subunit beta type-8 (EC 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)
Protein 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 pr
PDB 5L5A , 5L5B , 5L5D , 5L5E , 5L5F , 5L5H , 5L5I , 5L5J , 5L5O , 5L5P , 5L5Q , 5L5R , 5L5S , 5L5T , 5L5U , 5L5V , 5LTT , 5M2B , 6AVO , 6E5B , 7AWE , 7B12
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00227 Proteasome 69 → 251 Proteasome subunit Domain
Sequence
Sequence length 276
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
285
Gene SNPs Other IDs Associated diseases
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autoinflammatory syndrome Likely pathogenic; Pathogenic rs2127377117 RCV002264415
Proteasome-associated autoinflammatory syndrome 1 Likely pathogenic; Pathogenic rs763314828, rs895985294, rs1359687163, rs387906680, rs146254972, rs1554239543, rs748082671, rs374929612 RCV003989259
RCV004515817
RCV004515818
RCV000022739
RCV000022741
RCV000663374
RCV000816894
RCV001224235
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC Pathogenic rs748082671 RCV000663373
Proteosome-associated autoinflammatory syndrome Likely pathogenic; Pathogenic rs2127377117, rs2483095040, rs1582609458, rs2483096056, rs2483087076, rs1312431639, rs146254972, rs748082671, rs1769913209 RCV003762021
RCV003764014
RCV003597148
RCV003762500
RCV003762683
RCV003763371
RCV003595858
RCV003596608
RCV003763832
Show/Hide Unknown Diseases (12)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs78909544 RCV005900206
Clear cell carcinoma of kidney Benign; Likely benign rs78909544 RCV005900208
Familial cancer of breast Benign; Likely benign rs78909544 RCV005900205
Gastric cancer Uncertain significance rs764187500 RCV005930122
Show/Hide Text Mining Associations (78)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Inhibit 14997933
Achalasia Addisonianism Alacrimia syndrome Associate 36746983
Aicardi Goutieres syndrome Associate 31874111
Alveolitis Extrinsic Allergic Associate 20153157
Anemia hypochromic microcytic Associate 21129723, 21953331
Arthritis Rheumatoid Associate 39342401
Asthma Associate 35524249
Autoimmune Diseases Associate 28700671
Autoimmune Diseases of the Nervous System Associate 16414974
Breast Neoplasms Associate 29510614, 36746983, 36766731