[Term] id: PR:Q9HC10 name: otoferlin (human) def: "An otoferlin that is encoded in the genome of human." [PRO:DNx, UniProtKB:Q9HC10] comment: Category=organism-gene. synonym: "OTOF" RELATED Gene-based [UniProtKB:Q9HC10] synonym: "hOTOF" EXACT PRO-short-label [PRO:DNx] synonym: "FER1L2" RELATED Gene-based [UniProtKB:Q9HC10] synonym: "Fer-1-like protein 2 (human)" EXACT [UniProtKB:Q9HC10] xref: Reactome:R-HSA-9609870 "PR:Q9HC10 located_in GO:0005789" xref: Reactome:R-HSA-9609874 "PR:Q9HC10 located_in GO:0005829" xref: UniProtKB:Q9HC10 intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens intersection_of: PR:000012072 ! otoferlin relationship: has_gene_template HGNC:8515 ! OTOF (human) [Term] id: PR:Q9HC10-2 name: otoferlin isoform h2 (human) def: "An otoferlin (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:Q9HC10-2." [PRO:DNx, UniProtKB:Q9HC10] comment: Category=organism-sequence. synonym: "hOTOF/iso:h2" EXACT PRO-short-label [PRO:DNx] synonym: "otoferlin isoform Short-1 (human)" EXACT [UniProtKB:Q9HC10] xref: UniProtKB:Q9HC10-2 is_a: PR:Q9HC10 ! otoferlin (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:000012072 name: otoferlin def: "A protein that is a translation product of the human OTOF gene or a 1:1 ortholog thereof." [PRO:DNx] comment: Category=gene. synonym: "OTOF" EXACT PRO-short-label [PRO:DNx] synonym: "FER1L2" RELATED Gene-based [] synonym: "Fer-1-like protein 2" EXACT [] is_a: PR:000000001 ! protein [Term] id: PR:Q9HC10-3 name: otoferlin isoform h3 (human) def: "An otoferlin (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:Q9HC10-3." [PRO:DNx, UniProtKB:Q9HC10] comment: Category=organism-sequence. synonym: "hOTOF/iso:h3" EXACT PRO-short-label [PRO:DNx] synonym: "otoferlin isoform Short-2 (human)" EXACT [UniProtKB:Q9HC10] xref: UniProtKB:Q9HC10-3 is_a: PR:Q9HC10 ! otoferlin (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:Q9HC10-1 name: otoferlin isoform h1 (human) def: "An otoferlin (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:Q9HC10-1." [PRO:DNx, UniProtKB:Q9HC10] comment: Category=organism-sequence. synonym: "hOTOF/iso:h1" EXACT PRO-short-label [PRO:DNx] synonym: "otoferlin isoform Long (human)" EXACT [UniProtKB:Q9HC10] xref: UniProtKB:Q9HC10-1 is_a: PR:Q9HC10 ! otoferlin (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:Q9HC10-4 name: otoferlin isoform h4 (human) def: "An otoferlin (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:Q9HC10-4." [PRO:DNx, UniProtKB:Q9HC10] comment: Category=organism-sequence. synonym: "hOTOF/iso:h4" EXACT PRO-short-label [PRO:DNx] synonym: "otoferlin isoform Short-3 (human)" EXACT [UniProtKB:Q9HC10] xref: UniProtKB:Q9HC10-4 is_a: PR:Q9HC10 ! otoferlin (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:Q9HC10-5 name: otoferlin isoform h5 (human) def: "An otoferlin (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:Q9HC10-5." [PRO:DNx, UniProtKB:Q9HC10] comment: Category=organism-sequence. synonym: "hOTOF/iso:h5" EXACT PRO-short-label [PRO:DNx] xref: UniProtKB:Q9HC10-5 is_a: PR:Q9HC10 ! otoferlin (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens