[Term]
id: PR:000048744
name: twinkle mtDNA helicase, transit peptide removed form (human)
def: "A twinkle mtDNA helicase (human) that has had the transit peptide removed. UniProtKB:Q96RR1, 32-684." [PRO:DNx, Reactome:R-HSA-1592222]
comment: Category=organism-modification.
synonym: "PRO_0000042640" EXACT PRO-proteoform-ftid [PRO:DNx]
synonym: "hTWNK/TransPep-" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:Q96RR1, 32-684" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-1592222 "PR:000048744 located_in GO:0005759"
intersection_of: PR:Q96RR1 ! twinkle mtDNA helicase (human)
intersection_of: lacks_part SO:0000725 ! transit_peptide
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:Q96RR1-1
name: twinkle mtDNA helicase isoform h1 (human)
def: "A twinkle mtDNA helicase (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:Q96RR1-1." [PRO:DNx, UniProtKB:Q96RR1]
comment: Category=organism-sequence.
synonym: "hTWNK/iso:h1" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:Q96RR1-1
is_a: PR:Q96RR1 ! twinkle mtDNA helicase (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:Q96RR1-3
name: twinkle mtDNA helicase isoform h3 (human)
def: "A twinkle mtDNA helicase (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:Q96RR1-3." [PRO:DNx, UniProtKB:Q96RR1]
comment: Category=organism-sequence.
synonym: "hTWNK/iso:h3" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:Q96RR1-3
is_a: PR:Q96RR1 ! twinkle mtDNA helicase (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:Q96RR1-2
name: twinkle mtDNA helicase isoform h2 (human)
def: "A twinkle mtDNA helicase (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:Q96RR1-2." [PRO:DNx, UniProtKB:Q96RR1]
comment: Category=organism-sequence.
synonym: "hTWNK/iso:h2" EXACT PRO-short-label [PRO:DNx]
synonym: "twinkle mtDNA helicase isoform Twinky (human)" EXACT [UniProtKB:Q96RR1]
xref: UniProtKB:Q96RR1-2
is_a: PR:Q96RR1 ! twinkle mtDNA helicase (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000012545
name: twinkle mtDNA helicase
def: "A protein that is a translation product of the human TWNK gene or a 1:1 ortholog thereof." [PRO:DNx]
comment: Category=gene.
synonym: "PEO1" RELATED Gene-based []
synonym: "TWNK" EXACT PRO-short-label [PRO:DNx]
synonym: "C10orf2" RELATED Gene-based []
synonym: "twinkle protein, mitochondrial" EXACT []
synonym: "T7-like mitochondrial DNA helicase" EXACT []
synonym: "progressive external ophthalmoplegia 1 protein" EXACT []
synonym: "progressive external ophthalmoplegia 1 protein homolog" EXACT []
synonym: "T7 gp4-like protein with intramitochondrial nucleoid localization" EXACT []
is_a: PR:000000001 ! protein

[Term]
id: PR:Q96RR1
name: twinkle mtDNA helicase (human)
def: "A twinkle mtDNA helicase that is encoded in the genome of human." [PRO:DNx, UniProtKB:Q96RR1]
comment: Category=organism-gene.
synonym: "PEO1" RELATED Gene-based [UniProtKB:Q96RR1]
synonym: "TWNK" RELATED Gene-based [UniProtKB:Q96RR1]
synonym: "hTWNK" EXACT PRO-short-label [PRO:DNx]
synonym: "C10orf2" RELATED Gene-based [UniProtKB:Q96RR1]
synonym: "twinkle protein, mitochondrial (human)" EXACT [UniProtKB:Q96RR1]
synonym: "T7-like mitochondrial DNA helicase (human)" EXACT [UniProtKB:Q96RR1]
synonym: "progressive external ophthalmoplegia 1 protein (human)" EXACT [UniProtKB:Q96RR1]
synonym: "T7 gp4-like protein with intramitochondrial nucleoid localization (human)" EXACT [UniProtKB:Q96RR1]
xref: UniProtKB:Q96RR1
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000012545 ! twinkle mtDNA helicase
relationship: has_gene_template HGNC:1160 ! TWNK (human)