PSMB10 (proteasome 20S subunit beta 10)

Gene Gene information from NCBI Gene database.
Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID 5699
Gene name Proteasome 20S subunit beta 10
Gene symbol PSMB10
Synonyms (NCBI Gene)
IMD121LMP10MECL1PRAAS5beta2i
Chromosome 16
Chromosome location 16q22.1
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
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all (3)
Transcription factor Regulation Reference
IRF1 Unknown 18694960
NFKB1 Unknown 18694960
RELA Unknown 18694960
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all (24)
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
176847 9538 ENSG00000205220
Protein Protein information from UniProt database.
Gene SNPs Transcription factors Other IDs Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
11
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Immunodeficiency 121 with autoinflammation Pathogenic rs1333515119, rs2544399189 RCV004577063
RCV004577064
RCV004577065
Proteasome-associated autoinflammatory syndrome 5 Pathogenic rs2058265845, rs763700481, rs753711137, rs2544397166, rs2058265858 RCV004577059
RCV004577060
RCV004577061
RCV004577062
RCV001291934
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
PSMB10-related disorder Uncertain significance rs2544399114 RCV003402342
Show/Hide Text Mining Associations (31)
Associations from Text MiningDisease 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