{ "uniprot_canonical_ac": "A0A8I5ZLP5-1", "uniprot_ac": "A0A8I5ZLP5", "uniprot_id": "A0A8I5ZLP5_RAT", "mass": { "chemical_mass": 68630.0, "monoisotopic_mass": 68630.0 }, "refseq": { "ac": "NP_001100562", "name": "IQ calmodulin-binding motif-containing protein 1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001100562" }, "gene_names": [ { "name": "Iqcb1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A8I5ZLP5", "id": "A0A8I5ZLP5" }, { "name": "Iqcb1_predicted", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A8I5ZLP5", "id": "A0A8I5ZLP5" }, { "name": "Iqcb1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001100562", "id": "NP_001100562" }, { "name": "NPHP5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001100562", "id": "NP_001100562" }, { "name": "rCG_52703", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A8I5ZLP5", "id": "A0A8I5ZLP5" } ], "protein_names": [ { "name": "IQ calmodulin-binding motif containing 1; nephrocystin 5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001100562", "id": "NP_001100562" }, { "name": "IQ calmodulin-binding motif-containing protein 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001100562", "id": "NP_001100562" }, { "name": "IQ motif containing B1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A8I5ZLP5#names_and_taxonomy", "id": "A0A8I5ZLP5" } ], "function": [], "disease": [ { "disease_id": "DOID:0050576", "recommended_name": { "id": "DOID:0050576", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050576", "name": "Senior-Loken syndrome", "description": "A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease." }, "synonyms": [ { "id": "DOID:0050576", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050576", "name": "Loken Senior syndrome", "description": "" }, { "id": "DOID:0050576", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050576", "name": "renal-retinal syndrome", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "Senior-Loken syndrome 1", "description": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene." }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "Senior-Loken syndrome caused by mutation in NPHP1", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "juvenile nephronophthisis with Leber amaurosis", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "Senior-Loken syndrome 1", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "Senior-Loken syndrome", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "SENIOR-Loken syndrome 1; SLSN1", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "renal dysplasia and retinal aplasia", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "renal-retinal syndrome", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "SLSN1", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "Senior-Loken syndrome type 1", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "Loken-Senior syndrome", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "NPHP1 Senior-Loken syndrome", "description": "" }, { "id": "MONDO:0012225", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012225", "name": "Senior-Loken syndrome 5", "description": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the IQCB1 gene." }, { "id": "MONDO:0012225", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012225", "name": "Senior-Loken syndrome 5", "description": "" }, { "id": "MONDO:0012225", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012225", "name": "IQCB1 Senior-Loken syndrome", "description": "" }, { "id": "MONDO:0012225", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012225", "name": "Senior-Loken syndrome caused by mutation in IQCB1", "description": "" }, { "id": "MONDO:0012225", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012225", "name": "SLSN5", "description": "" }, { "id": "MONDO:0012225", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012225", "name": "Senior-Loken syndrome type 5", "description": "" }, { "id": "MONDO:0012225", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012225", "name": "SENIOR-Loken syndrome 5; SLSN5", "description": "" }, { "id": "MONDO:0011755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011755", "name": "SLSN3", "description": "" }, { "id": "MONDO:0011755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011755", "name": "SENIOR-Loken syndrome 3", "description": "" }, { "id": "MONDO:0011755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011755", "name": "SENIOR-Loken syndrome 3; SLSN3", "description": "" }, { "id": "MONDO:0011755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011755", "name": "SLSN3", "description": "" }, { "id": "MONDO:0011756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011756", "name": "Senior-Loken syndrome 4", "description": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP4 gene." }, { "id": "MONDO:0011756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011756", "name": "SLSN4", "description": "" }, { "id": "MONDO:0011756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011756", "name": "SENIOR-Loken syndrome 4; SLSN4", "description": "" }, { "id": "MONDO:0011756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011756", "name": "Senior-Loken syndrome type 4", "description": "" }, { "id": "MONDO:0011756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011756", "name": "NPHP4 Senior-Loken syndrome", "description": "" }, { "id": "MONDO:0011756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011756", "name": "Senior-Loken syndrome caused by mutation in NPHP4", "description": "" }, { "id": "MONDO:0011756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011756", "name": "Senior-Loken syndrome 4", "description": "" }, { "id": "MONDO:0013326", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013326", "name": "Senior-Loken syndrome 7", "description": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene." }, { "id": "MONDO:0013326", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013326", "name": "Senior-Loken syndrome caused by mutation in SDCCAG8", "description": "" }, { "id": "MONDO:0013326", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013326", "name": "Senior-Loken syndrome 7", "description": "" }, { "id": "MONDO:0013326", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013326", "name": "SLSN7", "description": "" }, { "id": "MONDO:0013326", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013326", "name": "Senior-Loken syndrome type 7", "description": "" }, { "id": "MONDO:0013326", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013326", "name": "SENIOR-Loken syndrome 7; SLSN7", "description": "" }, { "id": "MONDO:0013326", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013326", "name": "SDCCAG8 Senior-Loken syndrome", "description": "" }, { "id": "MONDO:0012433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012433", "name": "Senior-Loken syndrome 6", "description": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the CEP290 gene." }, { "id": "MONDO:0012433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012433", "name": "SENIOR-Loken syndrome 6; SLSN6", "description": "" }, { "id": "MONDO:0012433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012433", "name": "Senior-Loken syndrome 6", "description": "" }, { "id": "MONDO:0012433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012433", "name": "Senior-Loken syndrome caused by mutation in CEP290", "description": "" }, { "id": "MONDO:0012433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012433", "name": "SLSN6", "description": "" }, { "id": "MONDO:0012433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012433", "name": "CEP290 Senior-Loken syndrome", "description": "" }, { "id": "MONDO:0012433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012433", "name": "Senior-Loken syndrome type 6", "description": "" }, { "id": "MIM:266900", "resource": "MIM", "url": "https://www.omim.org/entry/266900", "name": "Senior-Loken syndrome 1", "description": "Senior-Loken syndrome 1" }, { "id": "MIM:609254", "resource": "MIM", "url": "https://www.omim.org/entry/609254", "name": "Senior-Loken syndrome 5", "description": "Senior-Loken syndrome 5" }, { "id": "MIM:606996", "resource": "MIM", "url": "https://www.omim.org/entry/606996", "name": "Senior-Loken syndrome 4", "description": "Senior-Loken syndrome 4" }, { "id": "MIM:613615", "resource": "MIM", "url": "https://www.omim.org/entry/613615", "name": "Senior-Loken syndrome 7", "description": "Senior-Loken syndrome 7" }, { "id": "MIM:610189", "resource": "MIM", "url": "https://www.omim.org/entry/610189", "name": "Senior-Loken syndrome 6", "description": "Senior-Loken syndrome 6" } ], "evidence": [ { "id": "0050576", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050576" } ] }, { "disease_id": "DOID:0110414", "recommended_name": { "id": "DOID:0110414", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110414", "name": "retinitis pigmentosa 3", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the RPGR gene on chromosome Xp11." }, "synonyms": [ { "id": "DOID:0110414", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110414", "name": "RP3", "description": "" }, { "id": "MONDO:0010227", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010227", "name": "retinitis pigmentosa 3", "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPGR gene." }, { "id": "MONDO:0010227", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010227", "name": "RP3", "description": "" }, { "id": "MONDO:0010227", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010227", "name": "cone-Rod Degeneration, X-linked", "description": "" }, { "id": "MONDO:0010227", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010227", "name": "retinitis pigmentosa 15", "description": "" }, { "id": "MONDO:0010227", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010227", "name": "retinitis pigmentosa type 3", "description": "" }, { "id": "MONDO:0010227", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010227", "name": "retinitis pigmentosa caused by mutation in RPGR", "description": "" }, { "id": "MONDO:0010227", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010227", "name": "retinitis pigmentosa 3", "description": "" }, { "id": "MONDO:0010227", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010227", "name": "RPGR retinitis pigmentosa", "description": "" }, { "id": "MONDO:0010227", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010227", "name": "retinitis pigmentosa 3; RP3", "description": "" }, { "id": "MONDO:0010227", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010227", "name": "Choroidoretinal Degeneration with retinal reflex in heterozygous Women", "description": "" }, { "id": "MIM:300029", "resource": "MIM", "url": "https://www.omim.org/entry/300029", "name": "Retinitis pigmentosa 3", "description": "Retinitis pigmentosa 3" } ], "evidence": [ { "id": "0110414", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110414" } ] }, { "disease_id": "DOID:12712", "recommended_name": { "id": "DOID:12712", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12712", "name": "nephronophthisis", "description": "A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy)." }, "synonyms": [ { "id": "DOID:12712", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12712", "name": "medullary cystic disease", "description": "" }, { "id": "DOID:12712", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12712", "name": "medullary cystic kidney", "description": "" }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "nephronophthisis 1", "description": "Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure." }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "NPH1", "description": "" }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "juvenile nephronophthisis", "description": "" }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "familial juvenile nephronophthisis", "description": "" }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "nephronophthisis type 1", "description": "" }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "NPHP1", "description": "" }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "nephronophthisis 1; NPHP1", "description": "" }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "NPHP1 nephronophthisis (disease)", "description": "" }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "nephronophthisis, familial juvenile", "description": "" }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "juvenile nephronophthisis 1", "description": "" }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "nephronophthisis 1", "description": "" }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "Nph1", "description": "" }, { "id": "MONDO:0009728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009728", "name": "nephronophthisis (disease) caused by mutation in NPHP1", "description": "" }, { "id": "MIM:256100", "resource": "MIM", "url": "https://www.omim.org/entry/256100", "name": "Nephronophthisis 1", "description": "Nephronophthisis 1" } ], "evidence": [ { "id": "12712", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12712" } ] }, { "disease_id": "DOID:14791", "recommended_name": { "id": "DOID:14791", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14791", "name": "Leber congenital amaurosis", "description": "A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness." }, "synonyms": [ { "id": "DOID:14791", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14791", "name": "LCA", "description": "" }, { "id": "DOID:14791", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14791", "name": "Leber's amaurosis", "description": "" }, { "id": "DOID:14791", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14791", "name": "Leber's congenital amaurosis", "description": "" }, { "id": "DOID:14791", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14791", "name": "Leber's disease", "description": "" }, { "id": "MONDO:0008764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008764", "name": "Leber congenital amaurosis 1", "description": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GUCY2D gene." }, { "id": "MONDO:0008764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008764", "name": "Leber congenital amaurosis caused by mutation in GUCY2D", "description": "" }, { "id": "MONDO:0008764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008764", "name": "retinal blindness, congenital", "description": "" }, { "id": "MONDO:0008764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008764", "name": "Leber congenital amaurosis 1", "description": "" }, { "id": "MONDO:0008764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008764", "name": "amaurosis congenita of Leber, type 1", "description": "" }, { "id": "MONDO:0008764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008764", "name": "CRB", "description": "" }, { "id": "MONDO:0008764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008764", "name": "Leber congenital amaurosis 1; LCA1", "description": "" }, { "id": "MONDO:0008764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008764", "name": "LCA", "description": "" }, { "id": "MONDO:0008764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008764", "name": "GUCY2D Leber congenital amaurosis", "description": "" }, { "id": "MONDO:0008764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008764", "name": "amaurosis congenita of Leber I", "description": "" }, { "id": "MONDO:0008764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008764", "name": "LCA1", "description": "" }, { "id": "MONDO:0008764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008764", "name": "amaurosis congenita of Leber 1", "description": "" }, { "id": "MONDO:0008764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008764", "name": "Leber congenital amaurosis type 1", "description": "" }, { "id": "MIM:204000", "resource": "MIM", "url": "https://www.omim.org/entry/204000", "name": "Leber congenital amaurosis 1", "description": "Leber congenital amaurosis 1" } ], "evidence": [ { "id": "14791", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14791" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZLP5", "url": "https://www.uniprot.org/uniprot/A0A8I5ZLP5" } ], "common_name": "Rat" } ], "gene": [ { "name": "Iqcb1", "url": "https://www.uniprot.org/uniprot/A0A8I5ZLP5", "locus": { "chromosome": "11", "start_pos": 66878551, "end_pos": 66824065, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSRNOG00000038868", "url": "https://www.ensembl.org/id/ENSRNOG00000038868" } ] } } ], "crossref": [ { "id": "ENSRNOG00000038868", "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000038868", "database": "Bgee" }, { "id": "303915", "url": "https://www.ncbi.nlm.nih.gov/gene/303915", "database": "GeneID" }, { "id": "IPR000048", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000048", "database": "InterPro" }, { "id": "IPR027417", "url": "https://www.ebi.ac.uk/interpro/entry/IPR027417", "database": "InterPro" }, { "id": "IPR028765", "url": "https://www.ebi.ac.uk/interpro/entry/IPR028765", "database": "InterPro" }, { "id": "rno:303915", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:303915", "database": "KEGG Pathway" }, { "id": "SLGCEES", "url": "https://omabrowser.org/oma/group/SLGCEES/", "database": "OMA" }, { "id": "852806at2759", "url": "http://www.orthodb.org/?query=852806at2759", "database": "OrthoDB" }, { "id": "PTHR15673", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15673", "database": "PANTHER" }, { "id": "PF00612", "url": "http://pfam.xfam.org/family/PF00612", "database": "Pfam" }, { "id": "R-RNO-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-5620912", "database": "Reactome" }, { "id": "NP_001100562", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001100562", "database": "RefSeq" }, { "id": "1310069", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1310069", "database": "RGD" }, { "id": "A0A8I5ZLP5", "url": "https://www.uniprot.org/uniprot/A0A8I5ZLP5", "database": "UniProtKB" }, { "id": "A0A8I5ZLP5-1", "url": "https://www.uniprot.org/uniprot/A0A8I5ZLP5-1", "database": "UniProtKB" }, { "id": "D4A6J0", "url": "https://www.uniprot.org/uniprot/D4A6J0", "database": "UniProtKB" }, { "id": "D4A6J0-1", "url": "https://www.uniprot.org/uniprot/D4A6J0-1", "database": "UniProtKB" } ], "sequence": { "sequence": "MKPAGTDPRILSLAAEVAKSPEQNVPVILLKLKEIINNTPLGSSELKKVKQDIYCYDLIQYCLLVLSQDSSRIQGGWSTISQLTQILSHCCVGLEPGEDGEEFYKELLPSAAENFLVLGRRLQTCFINATKGEEQDKLLHFFQIVTDSLFWLLGGHIQLIQNVLQSDHFLHLLQTDNVQIGATVMTLLQNILQINSGNLLKIEGKALHSILDEILFKLLSTPSPVIRSTATKLLLVLAESHQEILILLRLSACYKGLRSLLNKQETLTEFSRELRQLVDLLTPKIQQEVEEQKLHKAACLIQAYWKGFQTRKRLKKLPSAVIALQRSFRAKRTKMLLELNRQKEEEDLRLRLQLQKQRAMRLSRESRLSMLEIIHPGQVEKYNREIEEKSALTIQKHWRGYRERKNFRQQRPSLTEYKAAVTLQRAVLKFLAKCRKKKKLFASWHGLQELTDARRVELKQQVDDYVKRHPGSQMSDVASRELHAQAQERLQHYFMGRAIEERAQQHREALMAQISTNIEQLMKAPSLKEAEGKEPEQFLSRSRPVAAKAKQAHLTTLKHIQAPWWKKLGEEPGDEMDVPKDELSIDLGTLFIGGTKPP", "length": 598, "header": "tr|A0A8I5ZLP5-1|A0A8I5ZLP5_RAT Isoform 1 of IQ motif containing B1 OS=Rattus norvegicus OX=10116 GN=Iqcb1 PE=4 SV=1 CANONICAL=A0A8I5ZLP5-1" }, "isoforms": [ { "isoform_ac": "A0A8I5ZLP5-1", "url": "https://www.uniprot.org/uniprot/A0A8I5ZLP5#A0A8I5ZLP5-1", "sequence": { "sequence": "MKPAGTDPRILSLAAEVAKSPEQNVPVILLKLKEIINNTPLGSSELKKVKQDIYCYDLIQYCLLVLSQDSSRIQGGWSTISQLTQILSHCCVGLEPGEDGEEFYKELLPSAAENFLVLGRRLQTCFINATKGEEQDKLLHFFQIVTDSLFWLLGGHIQLIQNVLQSDHFLHLLQTDNVQIGATVMTLLQNILQINSGNLLKIEGKALHSILDEILFKLLSTPSPVIRSTATKLLLVLAESHQEILILLRLSACYKGLRSLLNKQETLTEFSRELRQLVDLLTPKIQQEVEEQKLHKAACLIQAYWKGFQTRKRLKKLPSAVIALQRSFRAKRTKMLLELNRQKEEEDLRLRLQLQKQRAMRLSRESRLSMLEIIHPGQVEKYNREIEEKSALTIQKHWRGYRERKNFRQQRPSLTEYKAAVTLQRAVLKFLAKCRKKKKLFASWHGLQELTDARRVELKQQVDDYVKRHPGSQMSDVASRELHAQAQERLQHYFMGRAIEERAQQHREALMAQISTNIEQLMKAPSLKEAEGKEPEQFLSRSRPVAAKAKQAHLTTLKHIQAPWWKKLGEEPGDEMDVPKDELSIDLGTLFIGGTKPP", "length": 598, "header": "tr|A0A8I5ZLP5-1|A0A8I5ZLP5_RAT Isoform 1 of IQ motif containing B1 OS=Rattus norvegicus OX=10116 GN=Iqcb1 PE=4 SV=1 CANONICAL=A0A8I5ZLP5-1" }, "locus": { "chromosome": "11", "start_pos": 63957082, "end_pos": 63905929, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000100750.1", "url": "https://www.ensembl.org/id/ENSRNOT00000100750.1" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000078884.1", "url": "https://www.ensembl.org/id/ENSRNOP00000078884.1" } ] } }, { "isoform_ac": "D4A6J0-1", "url": "https://www.uniprot.org/uniprot/A0A8I5ZLP5#D4A6J0-1", "sequence": { "sequence": "MKPAGTDPRILSLAAEVAKSPEQNVPVILLKLKEIINNTPLGSSELKKVKQDIYCYDLIQYCLLVLSQDSSRIQGGWSTISQLTQILSHCCVGLEPGEDGEEFYKELLPSAAENFLVLGRRLQTCFINATKGEEQDKLLHFFQIVTDSLFWLLGGHIQLIQNVLQSDHFLHLLQTDNVQIGATVMTLLQNILQINSGNLLKIEGKALHSILDEILFKLLSTPSPVIRSTATKLLLVLAESHQEILILLRLSACYKGLRSLLNKQETLTEFSRELRQLVDLLTPKIQQEVEEQKLHKAACLIQAYWKGFQTRKRLKKLPSAVIALQRSFRAKRTKMLLELNRQKEEEDLRLRLQLQKQRAMRLSRESRLSMLEIIHPGQVEKYNREIEEKSALTIQKHWRGYRERKNFRQQRPSLTEYKAAVTLQRAVLKFLAKCRKKKKLFASWHGLQELTDARRVELKQQVDDYVKRHPGSQMSDVASRELHAQAQERLQHYFMGRAIEERAQQHREALMAQISTNIEQLMSMLYICLCFINGITHARDVASKIFRSATNSLYSSP", "length": 557, "header": "tr|D4A6J0-1|D4A6J0_RAT Computationally mapped isoform of IQ motif-containing B1 OS=Rattus norvegicus OX=10116 GN=Iqcb1 PE=4 SV=1 CANONICAL=A0A8I5ZLP5-1" }, "locus": { "chromosome": "11", "start_pos": 63957082, "end_pos": 63906661, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000066616.2", "url": "https://www.ensembl.org/id/ENSRNOT00000066616.2" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000061216.1", "url": "https://www.ensembl.org/id/ENSRNOP00000061216.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.", "journal": "Nature genetics", "date": "2005", "authors": "Otto EA, Loeys B, Khanna H, Hellemans J, Sudbrak R, Fan S, Muerb U, O'Toole JF, Helou J, Attanasio M, Utsch B, Sayer JA, Lillo C, Jimeno D, Coucke P, De Paepe A, Reinhardt R, Klages S, Tsuda M, Kawakami I, Kusakabe T, Omran H, Imm A, Tippens M, Raymond PA, Hill J, Beales P, He S, Kispert A, Margolis B, Williams DS, Swaroop A, Hildebrandt F", "evidence": [ { "database": "RefSeq", "id": "NP_001100562", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001100562" } ], "reference": [ { "type": "PubMed", "id": "15723066", "url": "https://glygen.org/publication/PubMed/15723066" } ] }, { "title": "Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing.", "journal": "Human mutation", "date": "2008", "authors": "Otto EA, Helou J, Allen SJ, O'Toole JF, Wise EL, Ashraf S, Attanasio M, Zhou W, Wolf MT, Hildebrandt F", "evidence": [ { "database": "RefSeq", "id": "NP_001100562", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001100562" } ], "reference": [ { "type": "PubMed", "id": "18076122", "url": "https://glygen.org/publication/PubMed/18076122" } ] }, { "title": "Proteomic analysis of exosomes from human neural stem cells by flow field-flow fractionation and nanoflow liquid chromatography-tandem mass spectrometry.", "journal": "Journal of proteome research", "date": "2008", "authors": "Kang D, Oh S, Ahn SM, Lee BH, Moon MH", "evidence": [ { "database": "RefSeq", "id": "NP_001100562", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001100562" } ], "reference": [ { "type": "PubMed", "id": "18570454", "url": "https://glygen.org/publication/PubMed/18570454" } ] }, { "title": "Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.", "journal": "Cell", "date": "2011", "authors": "Sang L, Miller JJ, Corbit KC, Giles RH, Brauer MJ, Otto EA, Baye LM, Wen X, Scales SJ, Kwong M, Huntzicker EG, Sfakianos MK, Sandoval W, Bazan JF, Kulkarni P, Garcia-Gonzalo FR, Seol AD, O'Toole JF, Held S, Reutter HM, Lane WS, Rafiq MA, Noor A, Ansar M, Devi AR, Sheffield VC, Slusarski DC, Vincent JB, Doherty DA, Hildebrandt F, Reiter JF, Jackson PK", "evidence": [ { "database": "RefSeq", "id": "NP_001100562", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001100562" } ], "reference": [ { "type": "PubMed", "id": "21565611", "url": "https://glygen.org/publication/PubMed/21565611" } ] }, { "title": "Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.", "journal": "PloS one", "date": "2011", "authors": "Fahim AT, Bowne SJ, Sullivan LS, Webb KD, Williams JT, Wheaton DK, Birch DG, Daiger SP", "evidence": [ { "database": "RefSeq", "id": "NP_001100562", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001100562" } ], "reference": [ { "type": "PubMed", "id": "21857984", "url": "https://glygen.org/publication/PubMed/21857984" } ] }, { "title": "Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.", "journal": "Human mutation", "date": "2011", "authors": "Wang X, Wang H, Cao M, Li Z, Chen X, Patenia C, Gore A, Abboud EB, Al-Rajhi AA, Lewis RA, Lupski JR, Mardon G, Zhang K, Muzny D, Gibbs RA, Chen R", "evidence": [ { "database": "RefSeq", "id": "NP_001100562", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001100562" } ], "reference": [ { "type": "PubMed", "id": "21901789", "url": "https://glygen.org/publication/PubMed/21901789" } ] }, { "title": "Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR.", "journal": "Advances in experimental medicine and biology", "date": "2012", "authors": "Fahim AT, Bowne SJ, Sullivan LS, Webb KD, Williams JT, Wheaton DK, Birch DG, Daiger SP", "evidence": [ { "database": "RefSeq", "id": "NP_001100562", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001100562" } ], "reference": [ { "type": "PubMed", "id": "22183348", "url": "https://glygen.org/publication/PubMed/22183348" } ] } ], "pathway": [ { "id": "rno:303915", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:303915", "resource": "KEGG Pathway" }, { "id": "R-RNO-5620912", "name": "Anchoring of the basal body to the plasma membrane", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-5620912", "resource": "Reactome", "description": "Anchoring of the basal body to the plasma membrane" } ], "orthologs": [ { "uniprot_canonical_ac": "Q15051-1", "protein_name": "IQ calmodulin-binding motif-containing protein 1", "gene_name": "IQCB1", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MKPTGTDPRILSIAAEVAKSPEQNVPVILLKLKEIINITPLGSSELKKIKQDIYCYDLIQYCLLVLSQDYSRIQGGWTTISQLTQILSHCCVGLEPGEDAEEFYNELLPSAAENFLVLGRQLQTCFINAAKAEEKDELLHFFQIVTDSLFWLLGGHVELIQNVLQSDHFLHLLQADNVQIGSAVMMMLQNILQINSGDLLRIGRKALYSILDEVIFKLFSTPSPVIRSTATKLLLLMAESHQEILILLRQSTCYKGLRRLLSKQETGTEFSQELRQLVGLLSPMVYQEVEEQKLHQAACLIQAYWKGFQTRKRLKKLPSAVIALQRSFRSKRSKMLLEINRQKEEEDLKLQLQLQRQRAMRLSRELQLSMLEIVHPGQVEKHYREMEEKSALIIQKHWRGYRERKNFHQQRQSLIEYKAAVTLQRAALKFLAKCRKKKKLFAPWRGLQELTDARRVELKKRVDDYVRRHLGSPMSDVVSRELHAQAQERLQHYFMGRALEERAQQHREALIAQISTNVEQLMKAPSLKEAEGKEPELFLSRSRPVAAKAKQAHLTTLKHIQAPWWKKLGEESGDEIDVPKDELSIELENLFIGGTKPP", "length": 598 }, "evidence": [ { "id": "41493055", "url": "http://www.informatics.jax.org/homology/41493055", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "Q8BP00-1", "protein_name": "IQ calmodulin-binding motif-containing protein 1", "gene_name": "Iqcb1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MKPAGTDPRILSLAAEVAKSPEQNVPVILLKLKEIINNTPLGSSELKKVKQDIYCYDLIQYCLLVLSQDSSRIQGGWSTISQLTQILSHCCVGLEPGEDGEEFYKELLPSAAENFLILGRRLQTCFINATKGEEQDKLLHFFQIVTDSLFWLLGGHVQLIQNVLQSDHFLHLLQTDNVQIGASVMTLLQNILQINSGNLLKIEGKALHSILDEILFKLLSTPSPVIRSTATKLLLVLAESHQEILILLRLSACYKGLRSLLNKQETLTEFSRELRQLVDLLTPKIHQEVEEQKLHKAACLIQAYWKGFQTRKRLKKLPSAVIALQRSFRSKRTKMMLELNRQKEEEDLRLKLQLQRQRAMRLSRESRLNMLEIIHPGQVEKYNREMEEKSALTIQKHWRGYRERKNFRQQRPSLTEYKAAVTLQRAVLKFLAKCRKKKKLFASWHGLQELTDARRVELKQQVDDYVKRHPCSQMSEAASRELHAQAQERLQHYFMGRAIEERAQQHREALMAQISTNIEQLMKAPSLKEAEGKEPEQFLSRSRPVAAKAKQAHLTTLKHIQAPWWKKLGEEPGDEVDVPKDELSIDLGMLFIGGTKPP", "length": 598 }, "evidence": [ { "id": "41493055", "url": "http://www.informatics.jax.org/homology/41493055", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "maintenance of animal organ identity", "id": "GO:0048496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048496", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZLP5", "url": "https://www.uniprot.org/uniprot/A0A8I5ZLP5" } ], "pmid": "" }, { "name": "photoreceptor cell maintenance", "id": "GO:0045494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045494", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZLP5", "url": "https://www.uniprot.org/uniprot/A0A8I5ZLP5" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZLP5", "url": "https://www.uniprot.org/uniprot/A0A8I5ZLP5" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZLP5", "url": "https://www.uniprot.org/uniprot/A0A8I5ZLP5" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZLP5", "url": "https://www.uniprot.org/uniprot/A0A8I5ZLP5" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZLP5", "url": "https://www.uniprot.org/uniprot/A0A8I5ZLP5" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZLP5", "url": "https://www.uniprot.org/uniprot/A0A8I5ZLP5" } ], "pmid": "21873635" }, { "name": "photoreceptor connecting cilium", "id": "GO:0032391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032391", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZLP5", "url": "https://www.uniprot.org/uniprot/A0A8I5ZLP5" } ], "pmid": "" }, { "name": "photoreceptor outer segment", "id": "GO:0001750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001750", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZLP5", "url": "https://www.uniprot.org/uniprot/A0A8I5ZLP5" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 128, "end_pos": 130, "annotation": "n_glycosylation_sequon" }, { "start_pos": 37, "end_pos": 39, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ] }