[Term]
id: PR:Q16595
name: frataxin, mitochondrial (human)
def: "A frataxin, mitochondrial that is encoded in the genome of human." [PRO:DNx, UniProtKB:Q16595]
comment: Category=organism-gene.
synonym: "FXN" RELATED Gene-based [UniProtKB:Q16595]
synonym: "X25" RELATED Gene-based [UniProtKB:Q16595]
synonym: "FRDA" RELATED Gene-based [UniProtKB:Q16595]
synonym: "hFXN" EXACT PRO-short-label [PRO:DNx]
synonym: "Fxn (human)" EXACT [UniProtKB:Q16595]
synonym: "friedreich ataxia protein (human)" EXACT [UniProtKB:Q16595]
xref: Reactome:R-HSA-1299444 "PR:Q16595 located_in GO:0005743"
xref: Reactome:R-HSA-1299451 "PR:Q16595 located_in GO:0005758"
xref: UniProtKB:Q16595
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000007710 ! frataxin, mitochondrial
relationship: has_gene_template HGNC:3951 ! FXN (human)

[Term]
id: PR:000047459
name: frataxin, mitochondrial, transit peptide removed form (human)
def: "A frataxin, mitochondrial (human) that has had the transit peptide removed. UniProtKB:Q16595, 42-210." [PRO:DNx, Reactome:R-HSA-1299445, Reactome:R-HSA-1299454]
comment: Category=organism-modification.
synonym: "PRO_0000010129" EXACT PRO-proteoform-ftid [PRO:DNx]
synonym: "hFXN/TransPep-" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:Q16595, 42-210" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-1299445 "PR:000047459 located_in GO:0005759"
xref: Reactome:R-HSA-1299454 "PR:000047459 located_in GO:0005743"
intersection_of: PR:Q16595 ! frataxin, mitochondrial (human)
intersection_of: lacks_part SO:0000725 ! transit_peptide
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000007710
name: frataxin, mitochondrial
def: "A protein that is a translation product of the human FXN gene or a 1:1 ortholog thereof." [PRO:DNx]
comment: Category=gene.
synonym: "FXN" EXACT PRO-short-label [PRO:DNx]
synonym: "Fxn" EXACT []
synonym: "X25" RELATED Gene-based []
synonym: "FRDA" RELATED Gene-based []
synonym: "friedreich ataxia protein" EXACT []
is_a: PR:000000001 ! protein

[Term]
id: PR:Q16595-3
name: frataxin, mitochondrial isoform h3 (human)
def: "A frataxin, mitochondrial (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:Q16595-3." [PRO:DNx, UniProtKB:Q16595]
comment: Category=organism-sequence.
synonym: "hFXN/iso:h3" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:Q16595-3
is_a: PR:Q16595 ! frataxin, mitochondrial (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:Q16595-2
name: frataxin, mitochondrial isoform h2 (human)
def: "A frataxin, mitochondrial (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:Q16595-2." [PRO:DNx, UniProtKB:Q16595]
comment: Category=organism-sequence.
synonym: "hFXN/iso:h2" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:Q16595-2
is_a: PR:Q16595 ! frataxin, mitochondrial (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:Q16595-1
name: frataxin, mitochondrial isoform h1 (human)
def: "A frataxin, mitochondrial (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:Q16595-1." [PRO:DNx, UniProtKB:Q16595]
comment: Category=organism-sequence.
synonym: "hFXN/iso:h1" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:Q16595-1
is_a: PR:Q16595 ! frataxin, mitochondrial (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens