Gene Ontology annotation through association of InterPro records with GO terms
Annotation inferences using phylogenetic trees
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Electronic Gene Ontology annotations created by ARBA machine learning models
Combined Automated Annotation using Multiple IEA Methods
Decreased expression of ARV1 results in cholesterol retention in the endoplasmic reticulum and abnormal bile acid metabolism.
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ARV1 knockdown retains cholesterol in the ER.
"Knockdown of ARV1 in murine liver and HepG2 cells was associated with accumulation of cholesterol in the ER at the expense of the plasma membrane and suppression of sterol regulatory element-binding proteins and their targets."
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ARV1 mediates sterol transport from the ER to the plasma membrane (the interpretation of the accumulation phenotype).
"Knockdown of ARV1 in murine liver and HepG2 cells was associated with accumulation of cholesterol in the ER at the expense of the plasma membrane and suppression of sterol regulatory element-binding proteins and their targets."
Architecture of the human interactome defines protein communities and disease networks.
A reference map of the human binary protein interactome.
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.
ARV1 transports CHOL from ER membrane to plasma membrane
ARV1 is a component of the enzyme initiating glycosylphosphatidylinositol biosynthesis.
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ARV1 is a GPI-GnT component binding PIGQ.
"Here, we show that ARV1 acts as a component of the enzyme initiating GPI biosynthesis, GPI N-acetylglucosaminyltransferase (GPI-GnT) complex, which forms a ring structure as predicted by AlphaFold3."
Arv1 regulates PM and ER membrane structure and homeostasis but is dispensable for intracellular sterol transport.
The sterol-regulating human ARV1 binds cholesterol and phospholipids through its conserved ARV1 homology domain.
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The ARV1 homology domain binds cholesterol and phospholipids.
"Both full-length ARV1 and the AHD bound cholesterol, several phospholipids, and phosphoinositides with high affinity."
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Conserved AHD residues are needed for phospholipid binding.
"Several conserved amino acids within the AHD were necessary for phospholipid binding."
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins.
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ARV1-deficient fibroblasts have fewer surface GPI-anchored proteins.
"Flow cytometric analysis on patient fibroblasts showed a decrease in GPI-anchored proteins on the cell surface, supporting a lower residual activity of the mutant ARV1 as compared to the wildtype."
Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.
Reactome R-HSA-5250531: ARV1 transports CHOL from ER membrane to plasma membrane
Reactome R-HSA-191273: Cholesterol biosynthesis
UniProt entry Q9H2C2 (ARV1_HUMAN)
Affinage mechanistic annotation for ARV1 (human)