[Term]
id: PR:000016550
name: torsin-1A
def: "A protein that is a translation product of the human TOR1A gene or a 1:1 ortholog thereof." [PRO:DNx]
comment: Category=gene.
synonym: "TA" RELATED Gene-based []
synonym: "DQ2" RELATED Gene-based []
synonym: "DYT1" RELATED Gene-based []
synonym: "TORA" RELATED Gene-based []
synonym: "TOR1A" EXACT PRO-short-label [PRO:DNx]
synonym: "dystonia 1 protein" EXACT []
synonym: "torsin family 1 member A" EXACT []
is_a: PR:000000001 ! protein

[Term]
id: PR:O14656-1
name: torsin-1A isoform h1 (human)
def: "A torsin-1A (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:O14656-1." [PRO:DNx, UniProtKB:O14656]
comment: Category=organism-sequence.
synonym: "hTOR1A/iso:h1" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:O14656-1
is_a: PR:O14656 ! torsin-1A (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000049511
name: torsin-1A, signal peptide removed form (human)
def: "A torsin-1A (human) that has had the signal peptide removed. UniProtKB:O14656, 21-332." [PRO:DNx, Reactome:R-HSA-8862858]
comment: Category=organism-modification.
synonym: "PRO_0000005506" EXACT PRO-proteoform-ftid [PRO:DNx]
synonym: "hTOR1A/SigPep-" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:O14656, 21-332" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-8862858 "PR:000049511 located_in GO:0005829"
intersection_of: PR:O14656 ! torsin-1A (human)
intersection_of: lacks_part SO:0000418 ! signal_peptide
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:O14656
name: torsin-1A (human)
def: "A torsin-1A that is encoded in the genome of human." [PRO:DNx, UniProtKB:O14656]
comment: Category=organism-gene.
synonym: "TA" RELATED Gene-based [UniProtKB:O14656]
synonym: "DQ2" RELATED Gene-based [UniProtKB:O14656]
synonym: "DYT1" RELATED Gene-based [UniProtKB:O14656]
synonym: "TORA" RELATED Gene-based [UniProtKB:O14656]
synonym: "TOR1A" RELATED Gene-based [UniProtKB:O14656]
synonym: "hTOR1A" EXACT PRO-short-label [PRO:DNx]
synonym: "torsin ATPase-1A (human)" EXACT [UniProtKB:O14656]
synonym: "dystonia 1 protein (human)" EXACT [UniProtKB:O14656]
synonym: "torsin family 1 member A (human)" EXACT [UniProtKB:O14656]
xref: UniProtKB:O14656
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000016550 ! torsin-1A
relationship: has_gene_template HGNC:3098 ! TOR1A (human)

[Term]
id: PR:O14656-2
name: torsin-1A isoform h2 (human)
def: "A torsin-1A (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:O14656-2." [PRO:DNx, UniProtKB:O14656]
comment: Category=organism-sequence.
synonym: "hTOR1A/iso:h2" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:O14656-2
is_a: PR:O14656 ! torsin-1A (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens