[Term]
id: PR:P22557
name: 5-aminolevulinate synthase, erythroid-specific, mitochondrial (human)
def: "A 5-aminolevulinate synthase, erythroid-specific, mitochondrial that is encoded in the genome of human." [PRO:CNA, UniProtKB:P22557]
comment: Category=organism-gene.
synonym: "ASB" RELATED Gene-based [UniProtKB:P22557]
synonym: "ALAS2" RELATED Gene-based [UniProtKB:P22557]
synonym: "ALASE" RELATED Gene-based [UniProtKB:P22557]
synonym: "hALAS2" EXACT PRO-short-label [PRO:DNx]
synonym: "ALAS-E (human)" EXACT [UniProtKB:P22557]
synonym: "delta-ALA synthase 2 (human)" EXACT [UniProtKB:P22557]
synonym: "5-aminolevulinic acid synthase 2 (human)" EXACT [UniProtKB:P22557]
synonym: "delta-aminolevulinate synthase 2 (human)" EXACT [UniProtKB:P22557]
xref: UniProtKB:P22557
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000003917 ! 5-aminolevulinate synthase, erythroid-specific, mitochondrial
relationship: has_gene_template HGNC:397 ! ALAS2 (human)

[Term]
id: PR:000003917
name: 5-aminolevulinate synthase, erythroid-specific, mitochondrial
def: "A 5-aminolevulinate synthase that is a translation product of the human ALAS2 gene or a 1:1 ortholog thereof." [PRO:CNA]
comment: Category=gene.
synonym: "ASB" RELATED Gene-based []
synonym: "ALAS2" EXACT PRO-short-label [PRO:DNx]
synonym: "ALASE" RELATED Gene-based []
synonym: "ALAS-E" EXACT []
synonym: "delta-ALA synthase 2" EXACT []
synonym: "5-aminolevulinic acid synthase 2" EXACT []
synonym: "delta-aminolevulinate synthase 2" EXACT []
is_a: PR:000026125 ! 5-aminolevulinate synthase

[Term]
id: PR:000046306
name: 5-aminolevulinate synthase, erythroid-specific, mitochondrial, transit peptide removed pyridoxal phosphate lysine form (human)
def: "A 5-aminolevulinate synthase, erythroid-specific, mitochondrial (human) that has had the transit peptide removed and that includes at least one pyridoxal phosphate lysine. UniProtKB:P22557, 50-587, MOD:00128." [PRO:DNx, Reactome:R-HSA-1022083]
comment: Category=organism-modification.
synonym: "PRO_0000001223, MOD:00128" EXACT PRO-proteoform-ftid [PRO:DNx]
synonym: "hALAS2/TransPep-/PyrdoxLys+" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P22557, 50-587, MOD:00128" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-1022083 "PR:000046306 located_in GO:0005759"
intersection_of: has_part MOD:00128 ! N6-pyridoxal phosphate-L-lysine
intersection_of: PR:P22557 ! 5-aminolevulinate synthase, erythroid-specific, mitochondrial (human)
intersection_of: lacks_part SO:0000725 ! transit_peptide
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:P22557-1
name: 5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform 1 (human)
def: "A 5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform 1 that is encoded in the genome of human." [PRO:DNx]
comment: Category=organism-sequence.
synonym: "hALAS2/iso:1" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:P22557-1
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000039074 ! 5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform 1

[Term]
id: PR:P22557-3
name: 5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform h3 (human)
def: "A 5-aminolevulinate synthase, erythroid-specific, mitochondrial (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P22557-3." [PRO:DNx, UniProtKB:P22557]
comment: Category=organism-sequence.
synonym: "hALAS2/iso:h3" EXACT PRO-short-label [PRO:DNx]
synonym: "5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform F143M (human)" EXACT [UniProtKB:P22557]
xref: UniProtKB:P22557-3
is_a: PR:P22557 ! 5-aminolevulinate synthase, erythroid-specific, mitochondrial (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:P22557-2
name: 5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform h2 (human)
def: "A 5-aminolevulinate synthase, erythroid-specific, mitochondrial (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P22557-2." [PRO:DNx, UniProtKB:P22557]
comment: Category=organism-sequence.
synonym: "hALAS2/iso:h2" EXACT PRO-short-label [PRO:DNx]
synonym: "5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform Delta4 (human)" EXACT [UniProtKB:P22557]
xref: UniProtKB:P22557-2
is_a: PR:P22557 ! 5-aminolevulinate synthase, erythroid-specific, mitochondrial (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:P22557-4
name: 5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform h4 (human)
def: "A 5-aminolevulinate synthase, erythroid-specific, mitochondrial (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P22557-4." [PRO:DNx, UniProtKB:P22557]
comment: Category=organism-sequence.
synonym: "hALAS2/iso:h4" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:P22557-4
is_a: PR:P22557 ! 5-aminolevulinate synthase, erythroid-specific, mitochondrial (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens