[Term] id: PR:000016708 name: hamartin def: "A protein that is a translation product of the human TSC1 gene or a 1:1 ortholog thereof." [PRO:DNx] comment: Category=gene. synonym: "TSC" RELATED Gene-based [] synonym: "TSC1" EXACT PRO-short-label [PRO:DNx] synonym: "KIAA0243" RELATED Gene-based [] synonym: "tuberous sclerosis 1 protein" EXACT [] is_a: PR:000000001 ! protein [Term] id: PR:Q92574-1 name: hamartin isoform h1 (human) def: "A hamartin (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:Q92574-1." [PRO:DNx, UniProtKB:Q92574] comment: Category=organism-sequence. synonym: "hTSC1/iso:h1" EXACT PRO-short-label [PRO:DNx] xref: UniProtKB:Q92574-1 is_a: PR:Q92574 ! hamartin (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:Q92574-2 name: hamartin isoform h2 (human) def: "A hamartin (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:Q92574-2." [PRO:DNx, UniProtKB:Q92574] comment: Category=organism-sequence. synonym: "hTSC1/iso:h2" EXACT PRO-short-label [PRO:DNx] xref: UniProtKB:Q92574-2 is_a: PR:Q92574 ! hamartin (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:Q92574 name: hamartin (human) def: "A hamartin that is encoded in the genome of human." [PRO:DNx, UniProtKB:Q92574] comment: Category=organism-gene. synonym: "TSC" RELATED Gene-based [UniProtKB:Q92574] synonym: "TSC1" RELATED Gene-based [UniProtKB:Q92574] synonym: "hTSC1" EXACT PRO-short-label [PRO:DNx] synonym: "KIAA0243" RELATED Gene-based [UniProtKB:Q92574] synonym: "tuberous sclerosis 1 protein (human)" EXACT [UniProtKB:Q92574] xref: Reactome:R-HSA-165169 "PR:Q92574 located_in GO:0005886" xref: Reactome:R-HSA-5672338 "PR:Q92574 located_in GO:0005829" xref: UniProtKB:Q92574 intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens intersection_of: PR:000016708 ! hamartin relationship: has_gene_template HGNC:12362 ! TSC1 (human) [Term] id: PR:000046009 name: hamartin phosphorylated 1 (human) def: "A hamartin (human) that has been phosphorylated on the residue at the position equivalent to Ser-511 of the amino acid sequence represented by UniProtKB:Q92574-1. Example: UniProtKB:Q92574-1, Ser-511, MOD:00046." [PMID:24135021, iPTMnet:Q92574] comment: Category=organism-modification. Evidence=(ECO:0000006, based on PMID:24135021). Status=unreviewed. synonym: "hTSC1/Phos:1" EXACT PRO-short-label [PRO:DNx] synonym: "UniProtKB:Q92574-1, Ser-511, MOD:00046" NARROW PRO-proteoform-std [PRO:DNx] is_a: PR:Q92574 ! hamartin (human) relationship: has_part MOD:00046 ! O-phospho-L-serine relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens