Cortical ER protein; implicated in the membrane insertion of tail-anchored C-terminal single transmembrane domain proteins; may function in transport of glycosylphosphatidylinositol intermediates into the ER lumen; required for normal intracellular sterol distribution; human ARV1, required for normal cholesterol and bile acid homeostasis, can complement yeast arv1 null mutant; human variant causing early onset epileptic encephalopathy is unable to rescue the yeast null [Source:SGD;Acc:S000004232]
Chromosome XII: 622,918-623,883 reverse strand.
R64-1-1:BK006945.2
This gene has 1 transcript (splice variant), 233 orthologues and is a member of 1 Ensembl protein family.
Name | Transcript ID | bp | Protein | Translation ID | Biotype | UniProt | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|
ARV1 | YLR242C_mRNA | 966 | 321aa | YLR242C | Protein coding | Q06541 | - | Ensembl Canonical, |