[Term]
id: PR:000062874
name: galactose-1-phosphate uridylyltransferase sequence variant K285N (human)
def: "A galactose-1-phosphate uridylyltransferase (human) that has an Asn residue at the position equivalent to Lys-285 of the amino acid sequence represented by UniProtKB:P07902-1. Example: UniProtKB:P07902-1, Lys-285, CHEBI:50347." [PRO:DNx, Reactome:R-HSA-5610009]
comment: Category=organism-sequence.
synonym: "hGALT/var:K285N" EXACT PRO-short-label [PRO:DNx]
synonym: "GALT K285N" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-5610009]
synonym: "UniProtKB:P07902, Lys-285, CHEBI:50347" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P07902-1, Lys-285, CHEBI:50347" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-5610009 "PR:000062874 located_in GO:0005829"
is_a: PR:P07902 ! galactose-1-phosphate uridylyltransferase (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens