[Term] id: PR:000011652 name: optineurin def: "A protein that is a translation product of the human OPTN gene or a 1:1 ortholog thereof." [PRO:DNx] comment: Category=gene. synonym: "NRP" RELATED Gene-based [] synonym: "FIP2" RELATED Gene-based [] synonym: "HIP7" RELATED Gene-based [] synonym: "HYPL" RELATED Gene-based [] synonym: "OPTN" EXACT PRO-short-label [PRO:DNx] synonym: "FIP-2" EXACT [] synonym: "GLC1E" RELATED Gene-based [] synonym: "HIP-7" EXACT [] synonym: "TFIIIA-IntP" EXACT [] synonym: "NEMO-related protein" EXACT [] synonym: "huntingtin yeast partner L" EXACT [] synonym: "E3-14.7K-interacting protein" EXACT [] synonym: "huntingtin-interacting protein 7" EXACT [] synonym: "huntingtin-interacting protein L" EXACT [] synonym: "optic neuropathy-inducing protein" EXACT [] synonym: "transcription factor IIIA-interacting protein" EXACT [] is_a: PR:000000001 ! protein [Term] id: PR:Q96CV9 name: optineurin (human) def: "An optineurin that is encoded in the genome of human." [PRO:DNx, UniProtKB:Q96CV9] comment: Category=organism-gene. synonym: "NRP" RELATED Gene-based [UniProtKB:Q96CV9] synonym: "FIP2" RELATED Gene-based [UniProtKB:Q96CV9] synonym: "HIP7" RELATED Gene-based [UniProtKB:Q96CV9] synonym: "HYPL" RELATED Gene-based [UniProtKB:Q96CV9] synonym: "OPTN" RELATED Gene-based [UniProtKB:Q96CV9] synonym: "GLC1E" RELATED Gene-based [UniProtKB:Q96CV9] synonym: "hOPTN" EXACT PRO-short-label [PRO:DNx] synonym: "FIP-2 (human)" EXACT [UniProtKB:Q96CV9] synonym: "HIP-7 (human)" EXACT [UniProtKB:Q96CV9] synonym: "TFIIIA-IntP (human)" EXACT [UniProtKB:Q96CV9] synonym: "NEMO-related protein (human)" EXACT [UniProtKB:Q96CV9] synonym: "huntingtin yeast partner L (human)" EXACT [UniProtKB:Q96CV9] synonym: "E3-14.7K-interacting protein (human)" EXACT [UniProtKB:Q96CV9] synonym: "huntingtin-interacting protein 7 (human)" EXACT [UniProtKB:Q96CV9] synonym: "huntingtin-interacting protein L (human)" EXACT [UniProtKB:Q96CV9] synonym: "optic neuropathy-inducing protein (human)" EXACT [UniProtKB:Q96CV9] synonym: "transcription factor IIIA-interacting protein (human)" EXACT [UniProtKB:Q96CV9] xref: UniProtKB:Q96CV9 xref: Reactome:R-HSA-2161111 "PR:Q96CV9 located_in GO:0000139" xref: Reactome:R-HSA-8854141 "PR:Q96CV9 located_in GO:0055038" intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens intersection_of: PR:000011652 ! optineurin relationship: has_gene_template HGNC:17142 ! OPTN (human) [Term] id: PR:000046022 name: optineurin phosphorylated 1 (human) def: "An optineurin (human) that has been phosphorylated at the position equivalent to Ser-177 of the amino acid sequence represented by UniProtKB:Q96CV9-1. Example: UniProtKB:Q96CV9-1, Ser-177, MOD:00046." [PMID:22365832, iPTMnet:Q96CV9] comment: Category=organism-modification. Evidence=(ECO:0000006, based on PMID:22365832). Status=unreviewed. synonym: "hOPTN/Phos:1" EXACT PRO-short-label [PRO:DNx] synonym: "UniProtKB:Q96CV9-1, Ser-177, MOD:00046" NARROW PRO-proteoform-std [PRO:DNx] xref: Reactome:R-HSA-2562525 "PR:000046022 located_in GO:0005829" xref: Reactome:R-HSA-2562595 "PR:000046022 located_in GO:0005654" is_a: PR:Q96CV9 ! optineurin (human) relationship: has_part MOD:00046 ! O-phospho-L-serine relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:Q96CV9-1 name: optineurin isoform h1 (human) def: "An optineurin (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:Q96CV9-1." [PRO:DNx, UniProtKB:Q96CV9] comment: Category=organism-sequence. synonym: "hOPTN/iso:h1" EXACT PRO-short-label [PRO:DNx] xref: UniProtKB:Q96CV9-1 is_a: PR:Q96CV9 ! optineurin (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:Q96CV9-2 name: optineurin isoform h2 (human) def: "An optineurin (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:Q96CV9-2." [PRO:DNx, UniProtKB:Q96CV9] comment: Category=organism-sequence. synonym: "hOPTN/iso:h2" EXACT PRO-short-label [PRO:DNx] xref: UniProtKB:Q96CV9-2 is_a: PR:Q96CV9 ! optineurin (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:Q96CV9-3 name: optineurin isoform h3 (human) def: "An optineurin (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:Q96CV9-3." [PRO:DNx, UniProtKB:Q96CV9] comment: Category=organism-sequence. synonym: "hOPTN/iso:h3" EXACT PRO-short-label [PRO:DNx] xref: UniProtKB:Q96CV9-3 is_a: PR:Q96CV9 ! optineurin (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens