[Term] id: PR:P13196-1 name: 5-aminolevulinate synthase, non-specific, mitochondrial isoform h1 (human) def: "A 5-aminolevulinate synthase, non-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:P13196-1." [PRO:DNx, UniProtKB:P13196] comment: Category=organism-sequence. synonym: "hALAS1/iso:h1" EXACT PRO-short-label [PRO:DNx] xref: UniProtKB:P13196-1 is_a: PR:P13196 ! 5-aminolevulinate synthase, non-specific, mitochondrial (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:000003916 name: 5-aminolevulinate synthase, non-specific, mitochondrial def: "A 5-aminolevulinate synthase that is a translation product of the human ALAS1 gene or a 1:1 ortholog thereof." [PRO:CNA] comment: Category=gene. synonym: "ALAS1" EXACT PRO-short-label [PRO:DNx] synonym: "ALAS3" RELATED Gene-based [] synonym: "ALASH" RELATED Gene-based [] synonym: "ALAS-H" EXACT [] synonym: "OK/SW-cl.121" RELATED Gene-based [] synonym: "delta-ALA synthase 1" EXACT [] synonym: "5-aminolevulinic acid synthase 1" EXACT [] synonym: "delta-aminolevulinate synthase 1" EXACT [] is_a: PR:000026125 ! 5-aminolevulinate synthase [Term] id: PR:000046305 name: 5-aminolevulinate synthase, non-specific, mitochondrial, transit peptide removed pyridoxal phosphate lysine form (human) def: "A 5-aminolevulinate synthase, non-specific, mitochondrial (human) that has had the transit peptide removed and that includes at least one pyridoxal phosphate lysine. UniProtKB:P13196, 57-640, MOD:00128." [PRO:DNx, Reactome:R-HSA-1022086] comment: Category=organism-modification. synonym: "PRO_0000001230, MOD:00128" EXACT PRO-proteoform-ftid [PRO:DNx] synonym: "hALAS1/TransPep-/PyrdoxLys+" EXACT PRO-short-label [PRO:DNx] synonym: "UniProtKB:P13196, 57-640, MOD:00128" EXACT PRO-proteoform-std [PRO:DNx] xref: Reactome:R-HSA-1022086 "PR:000046305 located_in GO:0005759" intersection_of: has_part MOD:00128 ! N6-pyridoxal phosphate-L-lysine intersection_of: PR:P13196 ! 5-aminolevulinate synthase, non-specific, mitochondrial (human) intersection_of: lacks_part SO:0000725 ! transit_peptide relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:000046304 name: 5-aminolevulinate synthase, non-specific, mitochondrial, transit peptide removed form (human) def: "A 5-aminolevulinate synthase, non-specific, mitochondrial (human) that has had the transit peptide removed. UniProtKB:P13196, 57-640." [PRO:DNx, Reactome:R-HSA-189438] comment: Category=organism-modification. synonym: "PRO_0000001230" EXACT PRO-proteoform-ftid [PRO:DNx] synonym: "hALAS1/TransPep-" EXACT PRO-short-label [PRO:DNx] synonym: "UniProtKB:P13196, 57-640" EXACT PRO-proteoform-std [PRO:DNx] xref: Reactome:R-HSA-189438 "PR:000046304 located_in GO:0005759" intersection_of: PR:P13196 ! 5-aminolevulinate synthase, non-specific, mitochondrial (human) intersection_of: lacks_part SO:0000725 ! transit_peptide relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:P13196-2 name: 5-aminolevulinate synthase, non-specific, mitochondrial isoform h2 (human) def: "A 5-aminolevulinate synthase, non-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:P13196-2." [PRO:DNx, UniProtKB:P13196] comment: Category=organism-sequence. synonym: "hALAS1/iso:h2" EXACT PRO-short-label [PRO:DNx] xref: UniProtKB:P13196-2 is_a: PR:P13196 ! 5-aminolevulinate synthase, non-specific, mitochondrial (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:P13196 name: 5-aminolevulinate synthase, non-specific, mitochondrial (human) def: "A 5-aminolevulinate synthase, non-specific, mitochondrial that is encoded in the genome of human." [PRO:CNA, UniProtKB:P13196] comment: Category=organism-gene. synonym: "ALAS1" RELATED Gene-based [UniProtKB:P13196] synonym: "ALAS3" RELATED Gene-based [UniProtKB:P13196] synonym: "ALASH" RELATED Gene-based [UniProtKB:P13196] synonym: "hALAS1" EXACT PRO-short-label [PRO:DNx] synonym: "OK/SW-cl.121" RELATED Gene-based [UniProtKB:P13196] synonym: "ALAS-H (human)" EXACT [UniProtKB:P13196] synonym: "delta-ALA synthase 1 (human)" EXACT [UniProtKB:P13196] synonym: "5-aminolevulinic acid synthase 1 (human)" EXACT [UniProtKB:P13196] synonym: "delta-aminolevulinate synthase 1 (human)" EXACT [UniProtKB:P13196] xref: UniProtKB:P13196 intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens intersection_of: PR:000003916 ! 5-aminolevulinate synthase, non-specific, mitochondrial relationship: has_gene_template HGNC:396 ! ALAS1 (human)