[Term]
id: PR:000064379
name: lysosomal cobalamin transporter ABCD4 sequence variant Y319C (human)
def: "A lysosomal cobalamin transporter ABCD4 (human) that has a Cys residue at the position equivalent to Tyr-319 of the amino acid sequence represented by UniProtKB:O14678. UniProtKB:O14678, Tyr-319, CHEBI:29950." [PRO:DNx, Reactome:R-HSA-5683326]
comment: Category=organism-sequence.
synonym: "hABCD4/var:Y319C" EXACT PRO-short-label [PRO:DNx]
synonym: "ABCD4 Y319C" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-5683326]
synonym: "UniProtKB:O14678, Tyr-319, CHEBI:29950" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-5683326 "PR:000064379 located_in GO:0005765"
is_a: PR:O14678 ! lysosomal cobalamin transporter ABCD4 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens