gene 1,335 words KG: GEMIN1 2026-03-28
kind:genesection:genesstate:publishedtopic:alstopic:sma
Contents

GEMIN1 Gene

🧬 Gene Info
Gene SymbolGEMIN1
AliasesGEMIN1 gene in ALS and SMA
Chromosome6q21
Functionencodes a protein of approximately 282 kDa that serves as a molecular scaffold within the SMN complex.
Subcellular Localization</strong> Nucleus (Cajal bodies), cytoplasm</div> <div class="infobox-row"><st
Molecular Weight282 kDa
Ensembl IDENSG00000162992
GeneCardsGEMIN1
Human Protein AtlasGEMIN1
N-terminal DomainContains the binding site for the SMN protein, enabling formation of the core SMN-GEMIN1 heterodimer
Central RegionHouses the GEMIN1-specific domain that distinguishes this protein from other SMN complex components
C-terminal RegionContains multiple WD40 repeat motifs that mediate protein-protein interactions with other SMN complex members and with snRNA/Sm proteins
Cytoplasmic PhaseInitial assembly of the SMN complex occurs in the cytoplasm where it interacts with newly transcribed snRNA and importin-mediated transport
Nuclear PhaseThe complex localizes to Cajal bodies (also called gemini of coiled bodies), which are nuclear organelles involved in snRNP maturation and recycling
mRNA TransportSMN-GEMIN complexes are involved in the transport of specific mRNAs from the nucleus to the cytoplasm
Associated DiseasesALS
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

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