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PSMA3

Chr 14q23.1

proteasome 20S subunit alpha 3

Aliases:
HC8
MANE:
ENST00000216455.9

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • COVID-19 research

    Unknown
  • Primary immunodeficiency or monogenic inflammatory bowel disease

  • Severe insulin resistance and lipodystrophy syndromes

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • plasma cell myeloma

    0.62
  • mantle cell lymphoma

    0.54
  • neoplasm

    0.49
  • amyloidosis

    0.47
  • HIV infectious disease

    0.46
  • AL amyloidosis

    0.38
  • neurodegenerative disease

    0.36
  • acute lymphoblastic leukemia

    0.36
  • non-Hodgkin lymphoma

    0.35
  • diffuse large B-cell lymphoma

    0.33

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Proteasome subunit alpha type-3

Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). Binds to the C-terminus of CDKN1A and thereby mediates its degradation. Negatively regulates the membrane trafficking of the cell-surface thromboxane A2 receptor (TBXA2R) isoform 2

Curated MONDO disease pages that list PSMA3 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.