[Term]
id: PR:000085991
name: 5-aminolevulinate synthase, erythroid-specific, mitochondrial, transit peptide removed pyridoxal phosphate lysine-containing 1 (human)
def: "A 5-aminolevulinate synthase, erythroid-specific, mitochondrial (human) that has had the transit peptide removed and that has been pyridoxal phosphate modified on the residue at the position equivalent to Lys-391 of the amino acid sequence represented by UniProtKB:P22557-1. Example: UniProtKB:P22557-1, 50-587, Lys-391, MOD:00128." [PRO:DNx, Reactome:R-HSA-1022083]
comment: Category=organism-modification.
synonym: "hALAS2/TransPep-/Pyrdox:1" EXACT PRO-short-label [PRO:DNx]
synonym: "PXLP-K391-ALAS2" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-1022083]
synonym: "UniProtKB:P22557, 50-587, Lys-391, MOD:00128" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P22557-1, 50-587, Lys-391, MOD:00128" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-1022083 "PR:000085991 located_in GO:0005759"
is_a: PR:P22557 ! 5-aminolevulinate synthase, erythroid-specific, mitochondrial (human)
relationship: has_part MOD:00128 ! N6-pyridoxal phosphate-L-lysine
relationship: lacks_part SO:0000725 ! transit_peptide
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens