[Term] id: PR:O60931-2 name: cystinosin isoform h2 (human) def: "A cystinosin (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:O60931-2." [PRO:DNx, UniProtKB:O60931] comment: Category=organism-sequence. synonym: "hCTNS/iso:h2" EXACT PRO-short-label [PRO:DNx] synonym: "cystinosin isoform cystinosin-LKG (human)" EXACT [UniProtKB:O60931] xref: UniProtKB:O60931-2 is_a: PR:O60931 ! cystinosin (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:000006014 name: cystinosin def: "A protein that is a translation product of the human CTNS gene or a 1:1 ortholog thereof." [PRO:DNx] comment: Category=gene. synonym: "CTNS" EXACT PRO-short-label [PRO:DNx] is_a: PR:000000001 ! protein [Term] id: PR:O60931 name: cystinosin (human) def: "A cystinosin that is encoded in the genome of human." [PRO:DNx, UniProtKB:O60931] comment: Category=organism-gene. synonym: "CTNS" RELATED Gene-based [UniProtKB:O60931] synonym: "hCTNS" EXACT PRO-short-label [PRO:DNx] xref: Reactome:R-HSA-5216075 "PR:O60931 located_in GO:0005765" xref: UniProtKB:O60931 intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens intersection_of: PR:000006014 ! cystinosin relationship: has_gene_template HGNC:2518 ! CTNS (human) [Term] id: PR:O60931-1 name: cystinosin isoform 1 (human) def: "A cystinosin isoform 1 that is encoded in the genome of human." [PRO:DNx] comment: Category=organism-sequence. synonym: "hCTNS/iso:1" EXACT PRO-short-label [PRO:DNx] xref: UniProtKB:O60931-1 intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens intersection_of: PR:000038291 ! cystinosin isoform 1