[Term]
id: PR:000063040
name: glucosylceramide transporter ABCA12 sequence variant E2363N (human)
def: "A glucosylceramide transporter ABCA12 (human) that has an Asn residue at the position equivalent to Glu-2363 of the amino acid sequence represented by UniProtKB:Q86UK0-1. Example: UniProtKB:Q86UK0-1, Glu-2363, CHEBI:50347." [PRO:DNx, Reactome:R-HSA-5682291]
comment: Category=organism-sequence.
synonym: "hABCA12/var:E2363N" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:Q86UK0, Glu-2363, CHEBI:50347" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:Q86UK0-1, Glu-2363, CHEBI:50347" NARROW PRO-proteoform-std [PRO:DNx]
synonym: "ABCA12 D2363N" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-5682291]
xref: Reactome:R-HSA-5682291 "PR:000063040 located_in GO:0005886"
is_a: PR:Q86UK0 ! glucosylceramide transporter ABCA12 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens