gene 524 words KG: SEM1 2026-03-21
kind:genesection:genesstate:published
Contents

SEM1 Gene

🧬 Gene Info
Gene SymbolSEM1
FunctionSEM1 is a component of the 19S regulatory particle (PA700) of the 26S proteasome. The protein:
Subcellular Localizationto both nucleus and cytoplasm, with enrichment at the proteasome
GeneCardsSEM1
Human Protein AtlasSEM1
Amyotrophic lateral sclerosisRare variants identified in ALS patients
Frontotemporal dementiaAltered expression in FTD brain tissue
Haploinsufficiency modelsReduced SEM1 leads to proteasome impairment
Associated Diseasesneurodegeneration
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

Knowledge Graph