[Term]
id: PR:000061265
name: glucosylceramide transporter ABCA12 sequence variant G1179R (human)
def: "A glucosylceramide transporter ABCA12 (human) that has an Arg residue at the position equivalent to Gly-1179 of the amino acid sequence represented by UniProtKB:Q86UK0-1. Example: UniProtKB:Q86UK0-1, Gly-1179, CHEBI:29952." [PRO:DNx, Reactome:R-HSA-5682356]
comment: Category=organism-sequence.
synonym: "hABCA12/var:G1179R" EXACT PRO-short-label [PRO:DNx]
synonym: "ABCA12 G1179R" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-5682356]
synonym: "UniProtKB:Q86UK0, Gly-1179, CHEBI:29952" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:Q86UK0-1, Gly-1179, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-5682356 "PR:000061265 located_in GO:0005886"
is_a: PR:Q86UK0 ! glucosylceramide transporter ABCA12 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens