[Term] id: PR:000014430 name: sacsin def: "A protein that is a translation product of the human SACS gene or a 1:1 ortholog thereof." [PRO:DNx] comment: Category=gene. synonym: "SACS" EXACT PRO-short-label [PRO:DNx] synonym: "DNAJC29" EXACT [] synonym: "KIAA0730" RELATED Gene-based [] synonym: "DnaJ homolog subfamily C member 29" EXACT [] is_a: PR:000000001 ! protein [Term] id: PR:Q9JLC8 name: sacsin (mouse) def: "A sacsin that is encoded in the genome of mouse." [OMA:Q9JLC8, PRO:DNx] comment: Category=organism-gene. synonym: "Sacs" RELATED Gene-based [UniProtKB:Q9JLC8] synonym: "mSACS" EXACT PRO-short-label [PRO:DNx] synonym: "Kiaa0730" RELATED Gene-based [UniProtKB:Q9JLC8] synonym: "DNAJC29 (mouse)" EXACT [UniProtKB:Q9JLC8] synonym: "DnaJ homolog subfamily C member 29 (mouse)" EXACT [UniProtKB:Q9JLC8] xref: UniProtKB:Q9JLC8 intersection_of: only_in_taxon NCBITaxon:10090 ! Mus musculus intersection_of: PR:000014430 ! sacsin relationship: has_gene_template MGI:1354724 ! Sacs (mouse) [Term] id: PR:Q9NZJ4 name: sacsin (human) def: "A sacsin that is encoded in the genome of human." [PRO:DNx, UniProtKB:Q9NZJ4] comment: Category=organism-gene. synonym: "SACS" RELATED Gene-based [UniProtKB:Q9NZJ4] synonym: "hSACS" EXACT PRO-short-label [PRO:DNx] synonym: "KIAA0730" RELATED Gene-based [UniProtKB:Q9NZJ4] synonym: "DNAJC29 (human)" EXACT [UniProtKB:Q9NZJ4] synonym: "DnaJ homolog subfamily C member 29 (human)" EXACT [UniProtKB:Q9NZJ4] xref: UniProtKB:Q9NZJ4 intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens intersection_of: PR:000014430 ! sacsin relationship: has_gene_template HGNC:10519 ! SACS (human) [Term] id: PR:000030139 name: sacsin phosphorylated 1 def: "A sacsin that has been phosphorylated on the residue at the position equivalent to Thr-4265 of the amino acid sequence represented by UniProtKB:Q9JLC8. Example: UniProtKB:Q9JLC8, Thr-4265, MOD:00047." [PMID:17114649, PRO:HJD] comment: Category=modification. Note: Large-scale experiment. synonym: "SACS/Phos:1" EXACT PRO-short-label [PRO:DNx] is_a: PR:000014430 ! sacsin relationship: has_part MOD:00047 ! O-phospho-L-threonine [Term] id: PR:000030140 name: sacsin phosphorylated 1 (mouse) def: "A sacsin phosphorylated 1 in mouse. UniProtKB:Q9JLC8, Thr-4265, MOD:00047." [PMID:17114649, PRO:HJD] comment: Category=organism-modification. Note: Large-scale experiment. synonym: "mSACS/Phos:1" EXACT PRO-short-label [PRO:DNx] synonym: "UniProtKB:Q9JLC8, Thr-4265, MOD:00047" EXACT PRO-proteoform-std [PRO:DNx] intersection_of: only_in_taxon NCBITaxon:10090 ! Mus musculus intersection_of: PR:000030139 ! sacsin phosphorylated 1 relationship: has_part MOD:00047 ! O-phospho-L-threonine [Term] id: PR:Q9NZJ4-1 name: sacsin isoform h1 (human) def: "A sacsin (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:Q9NZJ4-1." [PRO:DNx, UniProtKB:Q9NZJ4] comment: Category=organism-sequence. synonym: "hSACS/iso:h1" EXACT PRO-short-label [PRO:DNx] xref: UniProtKB:Q9NZJ4-1 is_a: PR:Q9NZJ4 ! sacsin (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:Q9NZJ4-2 name: sacsin isoform h2 (human) def: "A sacsin (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:Q9NZJ4-2." [PRO:DNx, UniProtKB:Q9NZJ4] comment: Category=organism-sequence. synonym: "hSACS/iso:h2" EXACT PRO-short-label [PRO:DNx] xref: UniProtKB:Q9NZJ4-2 is_a: PR:Q9NZJ4 ! sacsin (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:Q9JLC8-1 name: sacsin isoform m1 (mouse) def: "A sacsin (mouse) 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:Q9JLC8-1." [PRO:DNx, UniProtKB:Q9JLC8] comment: Category=organism-sequence. synonym: "mSACS/iso:m1" EXACT PRO-short-label [PRO:DNx] xref: UniProtKB:Q9JLC8-1 is_a: PR:Q9JLC8 ! sacsin (mouse) relationship: only_in_taxon NCBITaxon:10090 ! Mus musculus [Term] id: PR:Q9JLC8-3 name: sacsin isoform m3 (mouse) def: "A sacsin (mouse) 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:Q9JLC8-3." [PRO:DNx, UniProtKB:Q9JLC8] comment: Category=organism-sequence. synonym: "mSACS/iso:m3" EXACT PRO-short-label [PRO:DNx] xref: UniProtKB:Q9JLC8-3 is_a: PR:Q9JLC8 ! sacsin (mouse) relationship: only_in_taxon NCBITaxon:10090 ! Mus musculus [Term] id: PR:Q9JLC8-2 name: sacsin isoform m2 (mouse) def: "A sacsin (mouse) 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:Q9JLC8-2." [PRO:DNx, UniProtKB:Q9JLC8] comment: Category=organism-sequence. synonym: "mSACS/iso:m2" EXACT PRO-short-label [PRO:DNx] xref: UniProtKB:Q9JLC8-2 is_a: PR:Q9JLC8 ! sacsin (mouse) relationship: only_in_taxon NCBITaxon:10090 ! Mus musculus