PSMB8 (proteasome 20S subunit beta 8)

Gene
Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5696
Gene name Gene Name - the full gene name approved by the HGNC.
Proteasome 20S subunit beta 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PSMB8
Synonyms (NCBI Gene) Gene synonyms aliases
ALDD, D6S216, D6S216E, JMP, LMP7, NKJO, PRAAS1, PSMB5i, RING10
Disease Acronyms (UniProt) Disease acronyms from UniProt database
PRAAS1
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.32
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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-PCR, Western blotting 34112884
MIRT733492 hsa-miR-451a qRT-PCR 32478410
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(43)
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade TAS
GO:0000209 Process Protein polyubiquitination TAS
GO:0000502 Component Proteasome complex IDA 26524591
GO:0002223 Process Stimulatory C-type lectin receptor signaling pathway TAS
GO:0002479 Process Antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
177046 9545 ENSG00000204264
Protein
Gene SNPs Other IDs Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Other IDs Associated diseases
Show/Hide Unknown Diseases (4)
Unknown
Disease term Disease name Evidence References Source
Neuroticism Neuroticism GWAS
Dental caries Dental caries GWAS
Hypothyroidism Hypothyroidism GWAS
Hyperthyroidism Hyperthyroidism GWAS
Show/Hide Text Mining Associations (78)
Associations from Text Mining
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