protein 1,543 words KG: ATLASTIN1PROTEIN 2026-03-22
kind:proteinsection:proteinsstate:published
Contents

Atlastin-1 Protein

🔬 Protein Info
Gene SymbolATLASTIN1
AliasesATLASTIN1PROTEIN
Protein FamilyAtlastin/Sey1p GTPase family
FunctionAtlastin-1 (ATL1), also known as SPG3A or HSpL1, is a membrane-anchored GTPase that plays essential roles in endoplasmic reticulum (ER) morphology, membrane trafficking, and neuronal development.
Primary ExpressionNeurons (corticospinal tract), all tissues
Subcellular LocalizationEndoplasmic reticulum membrane
Molecular Weight~56 kDa
UniProt IDQ9Y2K2
GeneCardsATLASTIN1
Human Protein AtlasATLASTIN1
Protein NameAtlastin-1 (ATL1)
GeneATL1
Mutation TypeSeverity
GTPase domain (R239C)Early-onset, severe
Dimerization (R495Q)Adult-onset
DatabasesGeneCardsNCBI GeneHPASTRING

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