PSMB1

Chr 6

proteasome 20S subunit beta 1

Also known as: HC5, NEDMHAL, PMSB1, PSC5

NCBI Gene: 5689 ENSG00000008018 UniProt: P20618

PSMB1 encodes a non-catalytic beta subunit of the 20S proteasome core complex, which degrades intracellular proteins through both ubiquitin-dependent and ubiquitin-independent pathways to maintain cellular protein homeostasis. Mutations cause autosomal recessive neurodevelopmental disorder with microcephaly, hypotonia, and absent language. The gene is highly constrained against loss-of-function variants (pLI 0.97, LOEUF 0.28), indicating that functional copies are critical for normal development.

ResearchSummary from RefSeq, OMIM, UniProt

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 subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is tightly linked to the TBP (TATA-binding protein) gene in human and in mouse, and is transcribed in the opposite orientation in both species. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with microcephaly, hypotonia, and absent language

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.28

LOEUF· LoF intol.

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Mechanism

Some data sources returned errors (1)

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