{ "uniprot_canonical_ac": "Q5PQX1-1", "uniprot_ac": "Q5PQX1", "uniprot_id": "TOIP1_RAT", "mass": { "chemical_mass": 65649.0, "monoisotopic_mass": 65649.0 }, "refseq": { "ac": "NP_659560", "name": "torsin-1A-interacting protein 1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_659560" }, "gene_names": [ { "name": "Tor1aip1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q5PQX1", "id": "Q5PQX1" }, { "name": "Lap1b; Lap1c", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_659560", "id": "NP_659560" }, { "name": "Tor1aip1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_659560", "id": "NP_659560" } ], "protein_names": [ { "name": "Torsin-1A-interacting protein 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q5PQX1" }, { "name": "LAP1B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q5PQX1" }, { "name": "LAP1C", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q5PQX1" }, { "name": "Lamina-associated polypeptide 1B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q5PQX1" }, { "name": "Lamina-associated polypeptide 1C", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q5PQX1" }, { "name": "lamina-associated polypeptide 1C; lamina-associated polypeptide 1B; torsin A interacting protein 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_659560", "id": "NP_659560" }, { "name": "torsin-1A-interacting protein 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_659560", "id": "NP_659560" } ], "function": [ { "annotation": "Data indicate that the protein phosphatase 1 (PP1) and nuclear membrane protein lamina associated polypeptide 1B (LAP1B) LAP1B:PP1 complex can be immunoprecipitated from cerebral cortex. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_659560", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_659560" }, { "database": "PubMed", "id": "24116158", "url": "https://glygen.org/publication/PubMed/24116158" } ] }, { "annotation": "Required for nuclear membrane integrity. Induces TOR1A and TOR1B ATPase activity and is required for their location on the nuclear membrane. Binds to A- and B-type lamins. Possible role in membrane attachment and assembly of the nuclear lamina.", "evidence": [ { "database": "UniProtKB", "id": "Q5PQX1", "url": "https://www.uniprot.org/uniprot/Q5PQX1#function" } ] } ], "disease": [ { "disease_id": "DOID:0110289", "recommended_name": { "id": "DOID:0110289", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110289", "name": "autosomal recessive limb-girdle muscular dystrophy type 2Y", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24." }, "synonyms": [ { "id": "DOID:0110289", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110289", "name": "LGMD2Y", "description": "" }, { "id": "DOID:0110289", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110289", "name": "muscular dystrophy, limb-girdle, type 2Y", "description": "" }, { "id": "DOID:0110289", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110289", "name": "autosomal recessive muscular dystrophy due to LAP1B deficiency", "description": "" }, { "id": "DOID:0110289", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110289", "name": "muscular dystrophy with progressive weakness, distal contractures and rigid spine", "description": "" }, { "id": "DOID:0110289", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110289", "name": "autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency", "description": "" }, { "id": "MONDO:0014900", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014900", "name": "autosomal recessive limb-girdle muscular dystrophy type 2Y", "description": "Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy." }, { "id": "MONDO:0014900", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014900", "name": "LGMD2Y", "description": "" }, { "id": "MONDO:0014900", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014900", "name": "TOR1AIP1 autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0014900", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014900", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TOR1AIP1", "description": "" }, { "id": "MONDO:0014900", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014900", "name": "autosomal recessive muscular dystrophy due to LAP1B deficiency", "description": "" }, { "id": "MONDO:0014900", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014900", "name": "autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency", "description": "" }, { "id": "MONDO:0014900", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014900", "name": "muscular dystrophy with progressive weakness, distal contractures and rigid spine", "description": "" }, { "id": "MONDO:0014900", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014900", "name": "muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures", "description": "" }, { "id": "MONDO:0014900", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014900", "name": "muscular dystrophy, limb-girdle, type 2Y", "description": "" }, { "id": "MONDO:0014900", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014900", "name": "muscular dystrophy, limb-girdle, type 2y", "description": "" }, { "id": "MIM:617072", "resource": "MIM", "url": "https://www.omim.org/entry/617072", "name": "Myopathy, autosomal recessive, with rigid spine and distal joint contractures", "description": "Myopathy, autosomal recessive, with rigid spine and distal joint contractures" } ], "evidence": [ { "id": "0110289", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110289" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q5PQX1", "url": "https://www.uniprot.org/uniprot/Q5PQX1" } ], "common_name": "Rat" } ], "gene": [ { "name": "Tor1aip1", "url": "https://www.uniprot.org/uniprot/Q5PQX1", "locus": { "chromosome": "13", "start_pos": 68196681, "end_pos": 68225862, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSRNOG00000003946", "url": "https://www.ensembl.org/id/ENSRNOG00000003946" } ] } } ], "crossref": [ { "id": "ENSRNOG00000003946", "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000003946", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "246314", "url": "https://www.ncbi.nlm.nih.gov/gene/246314", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "Q5PQX1", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q5PQX1*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR008662", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008662", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR038599", "url": "https://www.ebi.ac.uk/interpro/entry/IPR038599", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR046753", "url": "https://www.ebi.ac.uk/interpro/entry/IPR046753", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR046754", "url": "https://www.ebi.ac.uk/interpro/entry/IPR046754", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "rno:246314", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:246314", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "NASFVKM", "url": "https://omabrowser.org/oma/group/NASFVKM/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2913800at2759", "url": "http://www.orthodb.org/?query=2913800at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR18843", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18843", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR18843:SF6", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18843:SF6", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF05609", "url": "http://pfam.xfam.org/family/PF05609", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF20443", "url": "http://pfam.xfam.org/family/PF20443", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_Q5PQX1", "url": "http://purl.obolibrary.org/obo/PR_Q5PQX1", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-RNO-9013405", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-9013405", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-9035034", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-9035034", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_659560", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_659560", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "628851", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=628851", "database": "RGD", "categories": [ "Organism-specific" ] }, { "id": "A0A8I6A2B4", "url": "https://www.uniprot.org/uniprot/A0A8I6A2B4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I6A2B4-1", "url": "https://www.uniprot.org/uniprot/A0A8I6A2B4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I6AGC6", "url": "https://www.uniprot.org/uniprot/A0A8I6AGC6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I6AGC6-1", "url": "https://www.uniprot.org/uniprot/A0A8I6AGC6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8L2Q1H0", "url": "https://www.uniprot.org/uniprot/A0A8L2Q1H0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8L2Q1H0-1", "url": "https://www.uniprot.org/uniprot/A0A8L2Q1H0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5PQX1", "url": "https://www.uniprot.org/uniprot/Q5PQX1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5PQX1-1", "url": "https://www.uniprot.org/uniprot/Q5PQX1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5PQX1-2", "url": "https://www.uniprot.org/uniprot/Q5PQX1-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5PQX1-3", "url": "https://www.uniprot.org/uniprot/Q5PQX1-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAGERWRAEGLGEGWAIYVTPRAPIREGRRRLATQNGDGSDAPAYETHPSRHGRREVRFSEEPPEVYGDFEPRAAKERSPGERRTPPEKFRSDSAKEEVRESAYNLRSRQRRQRGPQEAEEMKTRRSTRLEQHSQQAQQQLSPATSGRGLRDAQSLSEDRGEDEPSSQPVTSQTVSKKTVRTPETSVMSEDPISNLCRPPLRSPRPDASIVQHINPFEEGETEDDLESSYSDVTIRIRSRDSVESRDEAAVAAGHHPDSLWGLPHSRGDFTAHENQPSLLPTGCQKNPQEWVEQAVRMRTRMAYNNIQKSDFGNQSPSTSRQQAAVQPPDESSVKIKWWLLILVAALAMGIYWFFHTPVVETTAVQEFQNQMKQLQSKYQSQDEKLWKRGTTFLEKHLNSSLPRPQPAILLLTAAQDAAEVLKCLSEQIADAYSSFRSVRAIRIDGAGKAAQDSDLVKHEVDQELTDGFRNGQNAAVVHRFESLPAGSTLIFYKYCDHENAAFKDVALVLTVLLEEQTLEASLGLKEIEEKVRDFLKVKFTSSDTANSYNHMDPDKLNGLWSRISHLVLPVQPENALKAGSCL", "length": 583, "header": "sp|Q5PQX1-1|TOIP1_RAT Isoform 1 of Torsin-1A-interacting protein 1 OS=Rattus norvegicus OX=10116 GN=Tor1aip1 PE=1 SV=1 CANONICAL=Q5PQX1-1" }, "isoforms": [ { "isoform_ac": "A0A8I6A2B4-1", "url": "", "sequence": { "sequence": "MAGERWRAEGLGEGWAIYVTPRAPIREGRRRLATQNGDGSDAPAYETHPSRHGRREVRFSEEPPEVYGDFEPRAAKERSPGERRTPPEKFRSDSAKEEVRESAYNLRSRQRRQRGPQEAEEMKTRRSTRLEQHSQQAQQQLSPATSGRGLRDAQSLSEDRGEDEPSSQPVTSQTVSKKTVRTPETSVMSEDPISNLCRPPLRSPRPDASIVQHINPFEEDEAAVAAGHHPDSLWGLPHSRGDFTAHENQPSLLPTGCQKNPQEWVEQAVRMRTRMAYNNIQKSDFGNQSPSTSRQQAAVQPPDESSVKIKWWLLILVAALAMGIYWFFHTPVVETTAVQEFQNQMKQLQSKYQSQDEKLWKRGTTFLEKHLNSSLPRPQPAILLLTAAQDAAEVLKCLSEQIADAYSSFRSVRAIRIDGAGKAAQDSDLVKHEVDQELTDGFRNGQNAAVVHRFESLPAGSTLIFYKYCDHENAAFKDVALVLTVLLEEQTLEASLGLKEIEEKVRDFLKVKFTSSDTANSYNHMDPDKLNGLWSRISHLVLPVQPENALKAGSCL", "length": 556, "header": "tr|A0A8I6A2B4-1|TOIP1_RAT Computationally mapped isoform of Torsin-1A-interacting protein 1 OS=Rattus norvegicus OX=10116 GN=Tor1aip1 PE=1 SV=1 CANONICAL=Q5PQX1-1" }, "locus": { "chromosome": "13", "start_pos": 68225674, "end_pos": 68197447, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000098741.1", "url": "https://www.ensembl.org/id/ENSRNOT00000098741.1" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000085745.1", "url": "https://www.ensembl.org/id/ENSRNOP00000085745.1" } ] } }, { "isoform_ac": "A0A8I6AGC6-1", "url": "", "sequence": { "sequence": "MAGERWRAEGLGEGWAIYVTPRAPIREGRRRLATQNGDGSDAPAYETHPSRHGRREVRFSEEPPEVYGDFEPRAAKERSPGERRTPPEKFRSDSAKEEVRESAYNLRSRQRRQRGPQEAEEMKTRRSTRLEQHSQQAQQQLSPATSGRGLRDAQSLSEDRGEDEPSSQPVTSQTVSKKTVRTPETSVMSEDPISNLCRPPLRSPRPDPTYQTNRNTKMNERDASIVQHINPFEEGETEDDLESSYSDVTIRIRSRDSVESRGRGDFTAHENQPSLLPTGCQKNPQEWVEQAVRMRTRMAYNNIQKSDFGNQSPSTSRQQAAVQPPDESSVKIKWWLLILVAALAMGIYWFFHTPVVETTAVQEFQNQMKQLQSKYQSQDEKLWKRGTTFLEKHLNSSLPRPQPAILLLTAAQDAAEVLKCLSEQIADAYSSFRSVRAIRIDGAGKAAQDSDLVKHEVDQELTDGFRNGQNAAVVHRFESLPAGSTLIFYKYCDHENAAFKDVALVLTVLLEEQTLEASLGLKEIEEKVRDFLKVKFTSSDTANSYNHMDPDKLNGLWSRISHLVLPVQPENALKAGSCL", "length": 579, "header": "tr|A0A8I6AGC6-1|TOIP1_RAT Computationally mapped isoform of Torsin-1A-interacting protein 1 OS=Rattus norvegicus OX=10116 GN=Tor1aip1 PE=1 SV=1 CANONICAL=Q5PQX1-1" }, "locus": { "chromosome": "13", "start_pos": 68225674, "end_pos": 68197447, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000107683.1", "url": "https://www.ensembl.org/id/ENSRNOT00000107683.1" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000087328.1", "url": "https://www.ensembl.org/id/ENSRNOP00000087328.1" } ] } }, { "isoform_ac": "A0A8L2Q1H0-1", "url": "", "sequence": { "sequence": "MAGERWRAEGLGEGWAIYVTPRAPIREGRRRLATQNGDGSDAPAYETHPSRHGRREVRFSEEPPEVYGDFEPRAAKERSPGERRTPPEKFRSDSAKEEVRESAYNLRSRQRRQRGPQEAEEMKTRRSTRLEQHSQQAQQQLSPATSGRGLRDAQSLSEDRGEDEPSSQPVTSQTVSKKTVRTPETSVMSEDPISNLCRPPLRSPRPDPTYQTNRNTKMNERDASIVQHINPFEEGETEDDLESSYSDVTIRIRSRDSVESREAAVQPPDESSVKIKWWLLILVAALAMGIYWFFHTPVVETTAVQEFQNQMKQLQSKYQSQDEKLWKRGTTFLEKHLNSSLPRPQPAILLLTAAQDAAEVLKCLSEQIADAYSSFRSVRAIRIDGAGKAAQDSDLVKHEVDQELTDGFRNGQNAAVVHRFESLPAGSTLIFYKYCDHENAAFKDVALVLTVLLEEQTLEASLGLKEIEEKVRDFLKVKFTSSDTANSYNHMDPDKLNGLWSRISHLVLPVQPENALKAGSCL", "length": 522, "header": "tr|A0A8L2Q1H0-1|TOIP1_RAT Computationally mapped isoform of Torsin-1A-interacting protein 1 OS=Rattus norvegicus OX=10116 GN=Tor1aip1 PE=1 SV=1 CANONICAL=Q5PQX1-1" }, "locus": { "chromosome": "13", "start_pos": 68225674, "end_pos": 68197447, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000005296.5", "url": "https://www.ensembl.org/id/ENSRNOT00000005296.5" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000005296.5", "url": "https://www.ensembl.org/id/ENSRNOP00000005296.5" } ] } }, { "isoform_ac": "Q5PQX1-1", "url": "", "sequence": { "sequence": "MAGERWRAEGLGEGWAIYVTPRAPIREGRRRLATQNGDGSDAPAYETHPSRHGRREVRFSEEPPEVYGDFEPRAAKERSPGERRTPPEKFRSDSAKEEVRESAYNLRSRQRRQRGPQEAEEMKTRRSTRLEQHSQQAQQQLSPATSGRGLRDAQSLSEDRGEDEPSSQPVTSQTVSKKTVRTPETSVMSEDPISNLCRPPLRSPRPDASIVQHINPFEEGETEDDLESSYSDVTIRIRSRDSVESRDEAAVAAGHHPDSLWGLPHSRGDFTAHENQPSLLPTGCQKNPQEWVEQAVRMRTRMAYNNIQKSDFGNQSPSTSRQQAAVQPPDESSVKIKWWLLILVAALAMGIYWFFHTPVVETTAVQEFQNQMKQLQSKYQSQDEKLWKRGTTFLEKHLNSSLPRPQPAILLLTAAQDAAEVLKCLSEQIADAYSSFRSVRAIRIDGAGKAAQDSDLVKHEVDQELTDGFRNGQNAAVVHRFESLPAGSTLIFYKYCDHENAAFKDVALVLTVLLEEQTLEASLGLKEIEEKVRDFLKVKFTSSDTANSYNHMDPDKLNGLWSRISHLVLPVQPENALKAGSCL", "length": 583, "header": "sp|Q5PQX1-1|TOIP1_RAT Isoform 1 of Torsin-1A-interacting protein 1 OS=Rattus norvegicus OX=10116 GN=Tor1aip1 PE=1 SV=1 CANONICAL=Q5PQX1-1" }, "locus": { "chromosome": "13", "start_pos": 68225674, "end_pos": 68197447, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000005280", "url": "https://www.ensembl.org/id/ENSRNOT00000005280" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000005280", "url": "https://www.ensembl.org/id/ENSRNOP00000005280" } ] } }, { "isoform_ac": "Q5PQX1-2", "url": "", "sequence": { "sequence": "MAGERWRAEGLGEGWAIYVTPRAPIREGRRRLATQNGDGSDAPAYETHPSRHGRREVRFSEEPPEVYGDFEPRAAKERSPGERRTPPEKFRSDSAKEEVRESAYNLRSRQRRQRGPQEAEEMKTRRSTRLEQHSQQAQQQLSPATSGRGLRDAQSLSEDRGEDEPSSQPVTSQTVSKKTVRTPETSVMSEDPISNLCRPPLRSPRPDASIVQHINPFEEDEAAVAAGHHPDSLWGLPHSRGDFTAHENQPSLLPTGCQKNPQEWVEQAVRMRTRMAYNNIQKSDFGNQSPSTSRQQAAVQPPDESSVKIKWWLLILVAALAMGIYWFFHTPVVEITAAQDAAEVLKCLSEQIADAYSSFRSVRAIRIDGAGKAAQDSDLVKHEVDQELTDGFRNGQNAAVVHRFESLPAGSTLIFYKYCDHENAAFKDVALVLTVLLEEQTLEASLGLKEIEEKVRDFLKVKFTSSDTANSYNHMDPDKLNGLWSRISHLVLPVQPENALKAGSCL", "length": 506, "header": "sp|Q5PQX1-2|TOIP1_RAT Isoform 2 of Torsin-1A-interacting protein 1 OS=Rattus norvegicus OX=10116 GN=Tor1aip1 PE=1 SV=1 CANONICAL=Q5PQX1-1" }, "locus": {} }, { "isoform_ac": "Q5PQX1-3", "url": "", "sequence": { "sequence": "MKTRRSTRLEQHSQQAQQQLSPATSGRGLRDAQSLSEDRGEDEPSSQPVTSQTVSKKTVRTPETSVMSEDPISNLCRPPLRSPRPDASIVQHINPFEEGETEDDLESSYSDVTIRIRSRDSVESRDEAAVAAGHHPDSLWGLPHSRGDFTAHENQPSLLPTGCQKNPQEWVEQAVRMRTRMAYNNIQKSDFGNQSPSTSRQQAAVQPPDESSVKIKWWLLILVAALAMGIYWFFHTPVVETTAVQEFQNQMKQLQSKYQSQDEKLWKRGTTFLEKHLNSSLPRPQPAILLLTAAQDAAEVLKCLSEQIADAYSSFRSVRAIRIDGAGKAAQDSDLVKHEVDQELTDGFRNGQNAAVVHRFESLPAGSTLIFYKYCDHENAAFKDVALVLTVLLEEQTLEASLGLKEIEEKVRDFLKVKFTSSDTANSYNHMDPDKLNGLWSRISHLVLPVQPENALKAGSCL", "length": 462, "header": "sp|Q5PQX1-3|TOIP1_RAT Isoform 3 of Torsin-1A-interacting protein 1 OS=Rattus norvegicus OX=10116 GN=Tor1aip1 PE=1 SV=1 CANONICAL=Q5PQX1-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 399, "start_aa": "Asn", "end_pos": 399, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn399", "evidence": [ { "id": "Q5PQX1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5PQX1#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 134, "end_pos": 134, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5PQX1", "url": "https://www.uniprot.org/uniprot/Q5PQX1" } ], "site_lbl": "Ser134" }, { "start_pos": 142, "end_pos": 142, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5PQX1", "url": "https://www.uniprot.org/uniprot/Q5PQX1" }, { "database": "PubMed", "id": "22673903", "url": "https://glygen.org/publication/PubMed/22673903" }, { "database": "iPTMnet", "id": "Q5PQX1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5PQX1" } ], "site_lbl": "Ser142" }, { "start_pos": 155, "end_pos": 155, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5PQX1", "url": "https://www.uniprot.org/uniprot/Q5PQX1" } ], "site_lbl": "Ser155" }, { "start_pos": 157, "end_pos": 157, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5PQX1", "url": "https://www.uniprot.org/uniprot/Q5PQX1" }, { "database": "PubMed", "id": "22673903", "url": "https://glygen.org/publication/PubMed/22673903" }, { "database": "iPTMnet", "id": "Q5PQX1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5PQX1" } ], "site_lbl": "Ser157" }, { "start_pos": 189, "end_pos": 189, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5PQX1", "url": "https://www.uniprot.org/uniprot/Q5PQX1" } ], "site_lbl": "Ser189" }, { "start_pos": 222, "end_pos": 222, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q5PQX1", "url": "https://www.uniprot.org/uniprot/Q5PQX1" } ], "site_lbl": "Thr222" }, { "start_pos": 228, "end_pos": 228, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5PQX1", "url": "https://www.uniprot.org/uniprot/Q5PQX1" } ], "site_lbl": "Ser228" }, { "start_pos": 231, "end_pos": 231, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5PQX1", "url": "https://www.uniprot.org/uniprot/Q5PQX1" }, { "database": "PubMed", "id": "22673903", "url": "https://glygen.org/publication/PubMed/22673903" }, { "database": "iPTMnet", "id": "Q5PQX1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5PQX1" } ], "site_lbl": "Ser231" }, { "start_pos": 242, "end_pos": 242, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5PQX1", "url": "https://www.uniprot.org/uniprot/Q5PQX1" }, { "database": "PubMed", "id": "22673903", "url": "https://glygen.org/publication/PubMed/22673903" }, { "database": "iPTMnet", "id": "Q5PQX1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5PQX1" } ], "site_lbl": "Ser242" }, { "start_pos": 316, "end_pos": 316, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5PQX1", "url": "https://www.uniprot.org/uniprot/Q5PQX1" } ], "site_lbl": "Ser316" }, { "start_pos": 60, "end_pos": 60, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5PQX1", "url": "https://www.uniprot.org/uniprot/Q5PQX1" }, { "database": "PubMed", "id": "22673903", "url": "https://glygen.org/publication/PubMed/22673903" }, { "database": "iPTMnet", "id": "Q5PQX1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5PQX1" } ], "site_lbl": "Ser60" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Accumulation of beta (m), a structural member of X,K-ATPase beta-subunit family, in nuclear envelopes of perinatal myocytes.", "journal": "Am. J. Physiol.", "date": "2004", "authors": "Zhao H, Pestov NB, Korneenko TV, Shakhparonov MI, Modyanov NN", "evidence": [ { "database": "UniProtKB", "id": "Q5PQX1", "url": "https://www.uniprot.org/uniprot/Q5PQX1" } ], "reference": [ { "type": "PubMed", "id": "14656723", "url": "https://glygen.org/publication/PubMed/14656723" } ] }, { "title": "Proteome analysis of a rat liver nuclear insoluble protein fraction and localization of a novel protein, ISP36, to compartments in the interchromatin space.", "journal": "FEBS J.", "date": "2005", "authors": "Furukawa K., Murayama K., Watanabe Y., Segawa M., Sugimoto K., Horigome T., Kaga N., Mineki R., Niino K.", "evidence": [ { "database": "UniProtKB", "id": "Q5PQX1", "url": "https://www.uniprot.org/uniprot/Q5PQX1" } ], "reference": [ { "type": "PubMed", "id": "16128803", "url": "https://glygen.org/publication/PubMed/16128803" } ] }, { "title": "Quantitative maps of protein phosphorylation sites across 14 different rat organs and tissues.", "journal": "Nature communications", "date": "2012", "authors": "Lundby A, Secher A, Lage K, Nordsborg NB, Dmytriyev A, Lundby C, Olsen JV", "evidence": [ { "database": "UniProtKB", "id": "Q5PQX1", "url": "https://www.uniprot.org/uniprot/Q5PQX1" }, { "database": "iPTMnet", "id": "Q5PQX1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5PQX1" } ], "reference": [ { "type": "PubMed", "id": "22673903", "url": "https://glygen.org/publication/PubMed/22673903" } ] }, { "title": "The nuclear envelope protein, LAP1B, is a novel protein phosphatase 1 substrate.", "journal": "PloS one", "date": "2013", "authors": "Santos M, Rebelo S, Van Kleeff PJ, Kim CE, Dauer WT, Fardilha M, da Cruz E Silva OA, da Cruz E Silva EF", "evidence": [ { "database": "RefSeq", "id": "NP_659560", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_659560" } ], "reference": [ { "type": "PubMed", "id": "24116158", "url": "https://glygen.org/publication/PubMed/24116158" } ] }, { "title": "cDNA cloning and characterization of lamina-associated polypeptide 1C (LAP1C), an integral protein of the inner nuclear membrane.", "journal": "J. Biol. Chem.", "date": "1995", "authors": "Martin L., Gerace L., Crimaudo C.", "evidence": [ { "database": "UniProtKB", "id": "Q5PQX1", "url": "https://www.uniprot.org/uniprot/Q5PQX1" } ], "reference": [ { "type": "PubMed", "id": "7721789", "url": "https://glygen.org/publication/PubMed/7721789" } ] } ], "pathway": [ { "id": "rno:246314", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:246314", "resource": "KEGG Pathway" }, { "id": "R-RNO-9013405", "name": "RHOD GTPase cycle", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-9013405", "resource": "Reactome", "description": "RHOD GTPase cycle" }, { "id": "R-RNO-9035034", "name": "RHOF GTPase cycle", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-9035034", "resource": "Reactome", "description": "RHOF GTPase cycle" } ], "orthologs": [ { "uniprot_canonical_ac": "Q5JTV8-1", "protein_name": "Torsin-1A-interacting protein 1", "gene_name": "TOR1AIP1", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MAGDGRRAEAVREGWGVYVTPRAPIREGRGRLAPQNGGSSDAPAYRTPPSRQGRREVRFSDEPPEVYGDFEPLVAKERSPVGKRTRLEEFRSDSAKEEVRESAYYLRSRQRRQPRPQETEEMKTRRTTRLQQQHSEQPPLQPSPVMTRRGLRDSHSSEEDEASSQTDLSQTISKKTVRSIQEAPVSEDLVIRLRRPPLRYPRYEATSVQQKVNFSEEGETEEDDQDSSHSSVTTVKARSRDSDESGDKTTRSSSQYIESFWQSSQSQNFTAHDKQPSVLSSGYQKTPQEWAPQTARIRTRMQNDSILKSELGNQSPSTSSRQVTGQPQNASFVKRNRWWLLPLIAALASGSFWFFSTPEVETTAVQEFQNQMNQLKNKYQGQDEKLWKRSQTFLEKHLNSSHPRSQPAILLLTAARDAEEALRCLSEQIADAYSSFRSVRAIRIDGTDKATQDSDTVKLEVDQELSNGFKNGQNAAVVHRFESFPAGSTLIFYKYCDHENAAFKDVALVLTVLLEEETLGTSLGLKEVEEKVRDFLKVKFTNSNTPNSYNHMDPDKLNGLWSRISHLVLPVQPENALKRGICL", "length": 583 }, "evidence": [ { "id": "45233526", "url": "http://www.informatics.jax.org/homology/45233526", "database": "MGI" }, { "id": "Q5PQX1", "url": "https://omabrowser.org/oma/group/Q5PQX1/", "database": "OMA" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "Q921T2-1", "protein_name": "Torsin-1A-interacting protein 1", "gene_name": "Tor1aip1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAGERWQAEGPGEGWAIYVTPRAPIREGRRRLDPRNGDSSDAPAYGAHPSRRGRREVRFSEEPAEVYGDFEPRAAKERSPGGRRTPPEKFRPASAGEEVRESAYNLRSRPRRQRRAQEAEEMKTRRSARLEQHSQQPQLSPATSGRGLRDSPSSSEDREEDEPSSRPVTSQTASKKTLRTPEASVMNEDPISNLCRPPLRSPRLDSTYQTNGNTKTNEREATIVQQVNFFEEGETEDDLESSYSDITIRARSSDSLESRDEATPAAGNHPDSLRGLPHNQDFPAHENQPLLLTSGCQENPQEWVDRAVRMRSRMAYNNIQKSNFGNQSPSTSRPQSAIHHPNEPSVKIKWWLLGLVAILAVGLFWFFHTPAVETTAVQEFQNQMKQLQSKYQSQNEKLWKRGTTFLEKHLNSSLPRPQPAILLLTAAQDAAEVLKCLSEQIADAYSSFRSVRAIRIDGAGKAAQDSDLVKHEVDQELTDGFKNGQNAAVVHRFESLPAGSTLIFYKYCDHENAAFKDVALVLTVLLEEKTLEASLGLKEIEEKVRDFLKVKFTSSSTASSYNHMDPDKLNGLWSRISHLVLPVQPENTLKAGSCL", "length": 595 }, "evidence": [ { "id": "45233526", "url": "http://www.informatics.jax.org/homology/45233526", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "protein localization to nuclear envelope", "id": "GO:0090435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090435", "evidence": [ { "database": "UniProtKB", "id": "Q5PQX1", "url": "https://www.uniprot.org/uniprot/Q5PQX1" } ], "pmid": "" }, { "name": "protein localization to nucleus", "id": "GO:0034504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034504", "evidence": [ { "database": "UniProtKB", "id": "Q5PQX1", "url": "https://www.uniprot.org/uniprot/Q5PQX1" } ], "pmid": "" }, { "name": "positive regulation of ATP-dependent activity", "id": "GO:0032781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032781", "evidence": [ { "database": "UniProtKB", "id": "Q5PQX1", "url": "https://www.uniprot.org/uniprot/Q5PQX1" } ], "pmid": "" }, { "name": "nuclear membrane organization", "id": "GO:0071763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071763", "evidence": [ { "database": "UniProtKB", "id": "Q5PQX1", "url": "https://www.uniprot.org/uniprot/Q5PQX1" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q5PQX1", "url": "https://www.uniprot.org/uniprot/Q5PQX1" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "Q5PQX1", "url": "https://www.uniprot.org/uniprot/Q5PQX1" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q5PQX1", "url": "https://www.uniprot.org/uniprot/Q5PQX1" } ], "pmid": "" }, { "name": "nuclear inner membrane", "id": "GO:0005637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005637", "evidence": [ { "database": "UniProtKB", "id": "Q5PQX1", "url": "https://www.uniprot.org/uniprot/Q5PQX1" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q5PQX1", "url": "https://www.uniprot.org/uniprot/Q5PQX1" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q5PQX1", "url": "https://www.uniprot.org/uniprot/Q5PQX1" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "ATPase binding", "id": "GO:0051117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051117", "evidence": [ { "database": "UniProtKB", "id": "Q5PQX1", "url": "https://www.uniprot.org/uniprot/Q5PQX1" } ], "pmid": "" }, { "name": "cytoskeletal protein binding", "id": "GO:0008092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008092", "evidence": [ { "database": "UniProtKB", "id": "Q5PQX1", "url": "https://www.uniprot.org/uniprot/Q5PQX1" } ], "pmid": "" }, { "name": "ATPase activator activity", "id": "GO:0001671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001671", "evidence": [ { "database": "UniProtKB", "id": "Q5PQX1", "url": "https://www.uniprot.org/uniprot/Q5PQX1" } ], "pmid": "" }, { "name": "lamin binding", "id": "GO:0005521", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005521", "evidence": [ { "database": "UniProtKB", "id": "Q5PQX1", "url": "https://www.uniprot.org/uniprot/Q5PQX1" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 314, "end_pos": 316, "annotation": "n_glycosylation_sequon" }, { "start_pos": 399, "end_pos": 401, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 11 }, { "field": "total_sites", "count": 11 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }