[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: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: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)