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.
This transcript has 1 exon, is annotated with 8 domains and features, is associated with 25 variant alleles and maps to 29 oligo probes.
This transcript is a product of gene YLR242C Show transcript tableHide transcript table
Name | Transcript ID | bp | Protein | Translation ID | Biotype | UniProt | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|
ARV1 | YLR242C_mRNA | 966 | 321aa | YLR242C | Protein coding | Q06541 | - | Ensembl Canonical, |