Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5699
Gene name Gene Name - the full gene name approved by the HGNC.
Proteasome 20S subunit beta 10
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PSMB10
Synonyms (NCBI Gene) Gene synonyms aliases
IMD121, LMP10, MECL1, PRAAS5, beta2i
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q22.1
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
Transcription factors
Transcription factor Regulation Reference
IRF1 Unknown 18694960
NFKB1 Unknown 18694960
RELA Unknown 18694960
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000502 Component Proteasome complex IEA
GO:0000502 Component Proteasome complex TAS 9551082
GO:0000902 Process Cell morphogenesis IEA
GO:0004175 Function Endopeptidase activity IBA
GO:0004298 Function Threonine-type endopeptidase activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
176847 9538 ENSG00000205220
Protein
UniProt ID P40306
Protein name Proteasome subunit beta type-10 (EC 3.4.25.1) (Low molecular mass protein 10) (Macropain subunit MECl-1) (Multicatalytic endopeptidase complex subunit MECl-1) (Proteasome MECl-1) (Proteasome subunit beta-2i)
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 6AVO , 6E5B , 6HV3 , 6HV4 , 6HV5 , 6HV7 , 6HVA , 6HVR , 6HVS , 6HVT , 6HVU , 6HVV , 6HVW , 7AWE , 7B12 , 9FSV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00227 Proteasome 36 217 Proteasome subunit Domain
PF12465 Pr_beta_C 231 267 Proteasome beta subunits C terminal Family
Sequence
Sequence length 273
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Crohn Disease Crohn's disease N/A N/A GWAS
Immunodeficiency immunodeficiency 121 with autoinflammation N/A N/A GenCC
Proteasome-associated autoinflammatory syndrome proteasome-associated autoinflammatory syndrome 5 N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Inhibit 14997933
Alzheimer Disease Stimulate 21252911
Aortic Aneurysm Abdominal Associate 27157464
Arthritis Rheumatoid Associate 39342401
Autoimmune Diseases of the Nervous System Associate 16414974
Breast Neoplasms Associate 29685151
Burkitt Lymphoma Associate 28465297
Carcinoma Hepatocellular Associate 21256843
chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature Associate 37600812
Death Associate 38503300