{ "uniprot_canonical_ac": "Q5SW45-1", "uniprot_ac": "Q5SW45", "uniprot_id": "MKS1_MOUSE", "mass": { "chemical_mass": 64416.0, "monoisotopic_mass": 64416.0 }, "refseq": { "ac": "NP_001034773", "name": "tectonic-like complex member MKS1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034773" }, "gene_names": [ { "name": "Mks1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q5SW45", "id": "Q5SW45" }, { "name": "Mks1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034773", "id": "NP_001034773" }, { "name": "avc6; B8d3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034773", "id": "NP_001034773" } ], "protein_names": [ { "name": "Tectonic-like complex member MKS1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q5SW45" }, { "name": "Meckel syndrome type 1 protein homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q5SW45" }, { "name": "meckel syndrome type 1 protein homolog; Meckel syndrome, type 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034773", "id": "NP_001034773" }, { "name": "tectonic-like complex member MKS1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034773", "id": "NP_001034773" } ], "function": [ { "annotation": "Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology.", "evidence": [ { "database": "UniProtKB", "id": "Q5SW45", "url": "https://www.uniprot.org/uniprot/Q5SW45#function" }, { "database": "PubMed", "id": "17185389", "url": "https://glygen.org/publication/PubMed/17185389" }, { "database": "PubMed", "id": "21725307", "url": "https://glygen.org/publication/PubMed/21725307" }, { "database": "PubMed", "id": "22179047", "url": "https://glygen.org/publication/PubMed/22179047" }, { "database": "PubMed", "id": "19515853", "url": "https://glygen.org/publication/PubMed/19515853" } ] }, { "annotation": "Demonstrated that the MKS transition zone complex cooperates with the BBSome to mediate trafficking of specific trans-membrane receptors to the cilium Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001034773", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034773" }, { "database": "PubMed", "id": "28291807", "url": "https://glygen.org/publication/PubMed/28291807" } ] }, { "annotation": "Mks1 expression in mouse embryos, as determined by in situ hybridization, agrees well with the tissue phenotype of MKS.", "evidence": [ { "database": "RefSeq", "id": "NP_001034773", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034773" }, { "database": "PubMed", "id": "16415886", "url": "https://glygen.org/publication/PubMed/16415886" } ] }, { "annotation": "Mks1 is required for ciliogenesis and shh signaling in mouse model of human meckel syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_001034773", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034773" }, { "database": "PubMed", "id": "19776033", "url": "https://glygen.org/publication/PubMed/19776033" } ] } ], "disease": [ { "disease_id": "DOID:0050651", "recommended_name": { "id": "DOID:0050651", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050651", "name": "atrioventricular septal defect", "description": "A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs." }, "synonyms": [ { "id": "DOID:0050651", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050651", "name": "AVCD", "description": "" }, { "id": "DOID:0050651", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050651", "name": "AVSD", "description": "" }, { "id": "DOID:0050651", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050651", "name": "ECD", "description": "" }, { "id": "DOID:0050651", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050651", "name": "atrioventricular canal defect", "description": "" }, { "id": "DOID:0050651", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050651", "name": "endocardial cushion defect", "description": "" }, { "id": "MONDO:0859565", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859565", "name": "atrioventricular septal defect", "description": "" }, { "id": "MONDO:0013769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013769", "name": "atrioventricular septal defect 5", "description": "Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA6 gene." }, { "id": "MONDO:0013769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013769", "name": "GATA6 atrioventricular septal defect", "description": "" }, { "id": "MONDO:0013769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013769", "name": "atrioventricular septal defect 5", "description": "" }, { "id": "MONDO:0013769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013769", "name": "atrioventricular septal defect caused by mutation in GATA6", "description": "" }, { "id": "MONDO:0013769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013769", "name": "atrioventricular septal defect type 5", "description": "" }, { "id": "MONDO:0013769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013769", "name": "AVSD5", "description": "" }, { "id": "MONDO:0013747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013747", "name": "atrioventricular septal defect 4", "description": "Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene." }, { "id": "MONDO:0013747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013747", "name": "GATA4 atrioventricular septal defect", "description": "" }, { "id": "MONDO:0013747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013747", "name": "atrioventricular septal defect 4", "description": "" }, { "id": "MONDO:0013747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013747", "name": "atrioventricular septal defect caused by mutation in GATA4", "description": "" }, { "id": "MONDO:0013747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013747", "name": "atrioventricular septal defect type 4", "description": "" }, { "id": "MONDO:0013747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013747", "name": "AVSD4", "description": "" }, { "id": "MIM:614474", "resource": "MIM", "url": "https://www.omim.org/entry/614474", "name": "Atrioventricular septal defect 5", "description": "Atrioventricular septal defect 5" }, { "id": "MIM:614430", "resource": "MIM", "url": "https://www.omim.org/entry/614430", "name": "Atrioventricular septal defect 4", "description": "Atrioventricular septal defect 4" } ], "evidence": [ { "id": "0050651", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "disease_id": "DOID:0050778", "recommended_name": { "id": "DOID:0050778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050778", "name": "Meckel syndrome", "description": "A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia." }, "synonyms": [ { "id": "DOID:0050778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050778", "name": "Meckel-Gruber syndrome", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "Meckel syndrome, type 1", "description": "Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene." }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "MKS1", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "MKS1 Meckel syndrome", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "Meckel syndrome caused by mutation in MKS1", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "Meckel syndrome, type 1", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "Meckel-Gruber syndrome, type 1", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "Dysencephalia Splanchnocystica", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "Dysencephalia splachnocystica", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "Gruber syndrome", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "MKS", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "Meckel Gruber syndrome", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "Meckel syndrome", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "Meckel syndrome 1", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "Meckel syndrome type1", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "Meckel-Gruber syndrome", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "Mes", "description": "" }, { "id": "MIM:249000", "resource": "MIM", "url": "https://www.omim.org/entry/249000", "name": "Meckel syndrome 1", "description": "Meckel syndrome 1" } ], "evidence": [ { "id": "0050778", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ] }, { "disease_id": "DOID:0060340", "recommended_name": { "id": "DOID:0060340", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060340", "name": "ciliopathy", "description": "A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia." }, "synonyms": [], "evidence": [ { "id": "0060340", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ] }, { "disease_id": "DOID:0070115", "recommended_name": { "id": "DOID:0070115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070115", "name": "Meckel syndrome 1", "description": "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the MKS1 gene on chromosome 17q22." }, "synonyms": [ { "id": "DOID:0070115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070115", "name": "MKS1", "description": "" }, { "id": "DOID:0070115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070115", "name": "Meckel-Gruber syndrome, type 1", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "Meckel syndrome, type 1", "description": "Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene." }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "MKS1", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "MKS1 Meckel syndrome", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "Meckel syndrome caused by mutation in MKS1", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "Meckel syndrome, type 1", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "Meckel-Gruber syndrome, type 1", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "Dysencephalia Splanchnocystica", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "Dysencephalia splachnocystica", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "Gruber syndrome", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "MKS", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "Meckel Gruber syndrome", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "Meckel syndrome", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "Meckel syndrome 1", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "Meckel syndrome type1", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "Meckel-Gruber syndrome", "description": "" }, { "id": "MONDO:0009571", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009571", "name": "Mes", "description": "" }, { "id": "MIM:249000", "resource": "MIM", "url": "https://www.omim.org/entry/249000", "name": "Meckel syndrome 1", "description": "Meckel syndrome 1" } ], "evidence": [ { "id": "0070115", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0070115" } ] }, { "disease_id": "DOID:0110135", "recommended_name": { "id": "DOID:0110135", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110135", "name": "Bardet-Biedl syndrome 13", "description": "A Bardet-Biedl syndrome that has_material_basis_in compound heterozygous mutation in the MKS1 gene on chromosome 17q22." }, "synonyms": [ { "id": "DOID:0110135", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110135", "name": "BBS13", "description": "" }, { "id": "MONDO:0014441", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014441", "name": "Bardet-Biedl syndrome 13", "description": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the MKS1 gene." }, { "id": "MONDO:0014441", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014441", "name": "BBS13", "description": "" }, { "id": "MONDO:0014441", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014441", "name": "Bardet-Biedl syndrome 13", "description": "" }, { "id": "MONDO:0014441", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014441", "name": "Bardet-Biedl syndrome caused by mutation in MKS1", "description": "" }, { "id": "MONDO:0014441", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014441", "name": "Bardet-Biedl syndrome type 13", "description": "" }, { "id": "MONDO:0014441", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014441", "name": "MKS1 Bardet-Biedl syndrome", "description": "" }, { "id": "MIM:615990", "resource": "MIM", "url": "https://www.omim.org/entry/615990", "name": "Bardet-Biedl syndrome 13", "description": "Bardet-Biedl syndrome 13" } ], "evidence": [ { "id": "0110135", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110135" } ] }, { "disease_id": "DOID:0110997", "recommended_name": { "id": "DOID:0110997", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110997", "name": "Joubert syndrome 28", "description": "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23." }, "synonyms": [ { "id": "DOID:0110997", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110997", "name": "JBTS28", "description": "" }, { "id": "MONDO:0014928", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014928", "name": "Joubert syndrome 28", "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the MKS1 gene." }, { "id": "MONDO:0014928", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014928", "name": "JBTS28", "description": "" }, { "id": "MONDO:0014928", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014928", "name": "Joubert syndrome 28", "description": "" }, { "id": "MONDO:0014928", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014928", "name": "Joubert syndrome caused by mutation in MKS1", "description": "" }, { "id": "MONDO:0014928", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014928", "name": "Joubert syndrome type 28", "description": "" }, { "id": "MONDO:0014928", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014928", "name": "MKS1 Joubert syndrome", "description": "" }, { "id": "MIM:617121", "resource": "MIM", "url": "https://www.omim.org/entry/617121", "name": "Joubert syndrome 28", "description": "Joubert syndrome 28" } ], "evidence": [ { "id": "0110997", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110997" } ] }, { "disease_id": "DOID:1935", "recommended_name": { "id": "DOID:1935", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1935", "name": "Bardet-Biedl syndrome", "description": "A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases." }, "synonyms": [ { "id": "MONDO:0008854", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008854", "name": "Bardet-Biedl syndrome 1", "description": "A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13." }, { "id": "MONDO:0008854", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008854", "name": "BBS1", "description": "" }, { "id": "MONDO:0008854", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008854", "name": "Bardet-Biedl syndrome 1", "description": "" }, { "id": "MONDO:0008854", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008854", "name": "Bardet-Biedl syndrome 1, modifier of", "description": "" }, { "id": "MONDO:0008854", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008854", "name": "Bardet-Biedl syndrome type 1", "description": "" }, { "id": "MIM:209900", "resource": "MIM", "url": "https://www.omim.org/entry/209900", "name": "Bardet-Biedl syndrome", "description": "Bardet-Biedl syndrome" } ], "evidence": [ { "id": "1935", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1935" } ] }, { "disease_id": "DOID:6419", "recommended_name": { "id": "DOID:6419", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6419", "name": "tetralogy of Fallot", "description": "" }, "synonyms": [ { "id": "DOID:6419", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6419", "name": "Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle", "description": "" }, { "id": "MONDO:0008542", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008542", "name": "tetralogy of fallot", "description": "Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy." }, { "id": "MONDO:0008542", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008542", "name": "tetralogy of fallot", "description": "" }, { "id": "MONDO:0008542", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008542", "name": "ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle", "description": "" }, { "id": "MONDO:0008542", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008542", "name": "Fallot tetralogy", "description": "" }, { "id": "MONDO:0008542", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008542", "name": "TOF", "description": "" }, { "id": "MONDO:0008542", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008542", "name": "tetralogy of FALLOT", "description": "" }, { "id": "MIM:187500", "resource": "MIM", "url": "https://www.omim.org/entry/187500", "name": "Tetralogy of Fallot", "description": "Tetralogy of Fallot" } ], "evidence": [ { "id": "6419", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:6419" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5SW45", "url": "https://www.uniprot.org/uniprot/Q5SW45" } ], "common_name": "Mouse" } ], "gene": [ { "name": "Mks1", "url": "https://www.uniprot.org/uniprot/Q5SW45", "locus": { "chromosome": "11", "start_pos": 87754629, "end_pos": 87744041, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000034121", "url": "https://www.ensembl.org/id/ENSMUSG00000034121" } ] } } ], "crossref": [ { "id": "ENSMUSG00000034121", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000034121", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "380718", "url": "https://www.ncbi.nlm.nih.gov/gene/380718", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "Q5SW45", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q5SW45*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR010796", "url": "https://www.ebi.ac.uk/interpro/entry/IPR010796", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "mmu:380718", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:380718", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "3584243", "url": "http://www.informatics.jax.org/marker/MGI:3584243", "database": "MGI", "categories": [ "Organism-specific" ] }, { "id": "YEHVLCI", "url": "https://omabrowser.org/oma/group/YEHVLCI/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "318112at2759", "url": "http://www.orthodb.org/?query=318112at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12968", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12968", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12968:SF4", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12968:SF4", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF07162", "url": "http://pfam.xfam.org/family/PF07162", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_Q5SW45", "url": "http://purl.obolibrary.org/obo/PR_Q5SW45", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-MMU-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-5610787", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-MMU-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-5620912", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001034773", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034773", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "Q5SW45", "url": "https://www.uniprot.org/uniprot/Q5SW45", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5SW45-1", "url": "https://www.uniprot.org/uniprot/Q5SW45-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAEAVWSTDTGEAVYRSRDPVRNLRLRVHLQRITSSNFLHYQPAAQMGKDLIDLATFRPPQAASGHRPDEEEEEEVVIGWQEKLFSQFEVDLYQNESACQSPLDHQYRQEILKLENSGGRKNRRIFTYTDSDRYTDLEEYCQKITTSASEVPSFLAERMANVRRRRQDRRGVEGSKLKSRIVTWEPSEDFIKNNHAINTPLQTMYIMADLGPYGKLGYKVHEHVLCILKVDSNGVITVKPDFTGIKGPYRIETEGEKQEHTSAWKYTIDNVSSLAQPEEEEREQRVFKDLYGRHKEYLSSLVGTDFEMIAPGALRLFVNGEVVSAQGYEYDNLYVHFFVELPAANWSSPPFQQLSGVTQACATKSLGMDKVAYFSFPFTFEAFFLHEDESAESLPEWPVLYCKVLSLDFWQRYRVEGYGAVVLPATPGSHTLTVSTWRPMELGLVAELRRFFIGGSLELEDPSYVRIPGTFKGERLSRFGFRTETTGTVTFRLHCLQQSRAFMESNSLQKQMRSVLDRLEGFSQQSSTHNVLEAFRRARRRMQEARESLPQDLVSPTGTLT", "length": 561, "header": "sp|Q5SW45-1|MKS1_MOUSE Isoform 1 of Tectonic-like complex member MKS1 OS=Mus musculus OX=10090 GN=Mks1 PE=1 SV=1 CANONICAL=Q5SW45-1" }, "isoforms": [ { "isoform_ac": "Q5SW45-1", "url": "", "sequence": { "sequence": "MAEAVWSTDTGEAVYRSRDPVRNLRLRVHLQRITSSNFLHYQPAAQMGKDLIDLATFRPPQAASGHRPDEEEEEEVVIGWQEKLFSQFEVDLYQNESACQSPLDHQYRQEILKLENSGGRKNRRIFTYTDSDRYTDLEEYCQKITTSASEVPSFLAERMANVRRRRQDRRGVEGSKLKSRIVTWEPSEDFIKNNHAINTPLQTMYIMADLGPYGKLGYKVHEHVLCILKVDSNGVITVKPDFTGIKGPYRIETEGEKQEHTSAWKYTIDNVSSLAQPEEEEREQRVFKDLYGRHKEYLSSLVGTDFEMIAPGALRLFVNGEVVSAQGYEYDNLYVHFFVELPAANWSSPPFQQLSGVTQACATKSLGMDKVAYFSFPFTFEAFFLHEDESAESLPEWPVLYCKVLSLDFWQRYRVEGYGAVVLPATPGSHTLTVSTWRPMELGLVAELRRFFIGGSLELEDPSYVRIPGTFKGERLSRFGFRTETTGTVTFRLHCLQQSRAFMESNSLQKQMRSVLDRLEGFSQQSSTHNVLEAFRRARRRMQEARESLPQDLVSPTGTLT", "length": 561, "header": "sp|Q5SW45-1|MKS1_MOUSE Isoform 1 of Tectonic-like complex member MKS1 OS=Mus musculus OX=10090 GN=Mks1 PE=1 SV=1 CANONICAL=Q5SW45-1" }, "locus": { "chromosome": "11", "start_pos": 87753848, "end_pos": 87744076, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000038196", "url": "https://www.ensembl.org/id/ENSMUST00000038196" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000043790", "url": "https://www.ensembl.org/id/ENSMUSP00000043790" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.", "journal": "Nat. Genet.", "date": "2006", "authors": "Kyttala M, Tallila J, Salonen R, Kopra O, Kohlschmidt N, Paavola-Sakki P, Peltonen L, Kestila M", "evidence": [ { "database": "UniProtKB", "id": "Q5SW45", "url": "https://www.uniprot.org/uniprot/Q5SW45" }, { "database": "RefSeq", "id": "NP_001034773", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034773" } ], "reference": [ { "type": "PubMed", "id": "16415886", "url": "https://glygen.org/publication/PubMed/16415886" } ] }, { "title": "The Meckel-Gruber syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.", "journal": "Hum. Mol. Genet.", "date": "2007", "authors": "Dawe HR, Smith UM, Cullinane AR, Gerrelli D, Cox P, Badano JL, Blair-Reid S, Sriram N, Katsanis N, Attie-Bitach T, Afford SC, Copp AJ, Kelly DA, Gull K, Johnson CA", "evidence": [ { "database": "UniProtKB", "id": "Q5SW45", "url": "https://www.uniprot.org/uniprot/Q5SW45" } ], "reference": [ { "type": "PubMed", "id": "17185389", "url": "https://glygen.org/publication/PubMed/17185389" } ] }, { "title": "Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3.", "journal": "Hum. Mol. Genet.", "date": "2009", "authors": "Harris P.C., Czarnecki P.G., Hommerding C.J., Torres V.E., Tammachote R., Salisbury J.L., Ward C.J., Miller C.A., Gattone V.H. II, Leightner A.C., Sinders R.M.", "evidence": [ { "database": "UniProtKB", "id": "Q5SW45", "url": "https://www.uniprot.org/uniprot/Q5SW45" } ], "reference": [ { "type": "PubMed", "id": "19515853", "url": "https://glygen.org/publication/PubMed/19515853" } ] }, { "title": "A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling.", "journal": "Human molecular genetics", "date": "2009", "authors": "Weatherbee SD, Niswander LA, Anderson KV", "evidence": [ { "database": "RefSeq", "id": "NP_001034773", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034773" } ], "reference": [ { "type": "PubMed", "id": "19776033", "url": "https://glygen.org/publication/PubMed/19776033" } ] }, { "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": "UniProtKB", "id": "Q5SW45", "url": "https://www.uniprot.org/uniprot/Q5SW45" } ], "reference": [ { "type": "PubMed", "id": "21565611", "url": "https://glygen.org/publication/PubMed/21565611" } ] }, { "title": "A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.", "journal": "Nat. Genet.", "date": "2011", "authors": "Garcia-Gonzalo FR, Corbit KC, Sirerol-Piquer MS, Ramaswami G, Otto EA, Noriega TR, Seol AD, Robinson JF, Bennett CL, Josifova DJ, Garcia-Verdugo JM, Katsanis N, Hildebrandt F, Reiter JF", "evidence": [ { "database": "UniProtKB", "id": "Q5SW45", "url": "https://www.uniprot.org/uniprot/Q5SW45" } ], "reference": [ { "type": "PubMed", "id": "21725307", "url": "https://glygen.org/publication/PubMed/21725307" } ] }, { "title": "Disruption of a ciliary B9 protein complex causes Meckel syndrome.", "journal": "Am. J. Hum. Genet.", "date": "2011", "authors": "Dowdle WE, Robinson JF, Kneist A, Sirerol-Piquer MS, Frints SG, Corbit KC, Zaghloul NA, van Lijnschoten G, Mulders L, Verver DE, Zerres K, Reed RR, Attie-Bitach T, Johnson CA, Garcia-Verdugo JM, Katsanis N, Bergmann C, Reiter JF", "evidence": [ { "database": "UniProtKB", "id": "Q5SW45", "url": "https://www.uniprot.org/uniprot/Q5SW45" } ], "reference": [ { "type": "PubMed", "id": "21763481", "url": "https://glygen.org/publication/PubMed/21763481" } ] }, { "title": "A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain.", "journal": "Nat. Cell Biol.", "date": "2012", "authors": "Chih B, Liu P, Chinn Y, Chalouni C, Komuves LG, Hass PE, Sandoval W, Peterson AS", "evidence": [ { "database": "UniProtKB", "id": "Q5SW45", "url": "https://www.uniprot.org/uniprot/Q5SW45" } ], "reference": [ { "type": "PubMed", "id": "22179047", "url": "https://glygen.org/publication/PubMed/22179047" } ] }, { "title": "The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signaling.", "journal": "PloS one", "date": "2017", "authors": "Goetz SC, Bangs F, Barrington CL, Katsanis N, Anderson KV", "evidence": [ { "database": "RefSeq", "id": "NP_001034773", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034773" } ], "reference": [ { "type": "PubMed", "id": "28291807", "url": "https://glygen.org/publication/PubMed/28291807" } ] } ], "pathway": [ { "id": "mmu:380718", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:380718", "resource": "KEGG Pathway" }, { "id": "R-MMU-5610787", "name": "Hedgehog 'off' state", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-5610787", "resource": "Reactome", "description": "Hedgehog 'off' state" }, { "id": "R-MMU-5620912", "name": "Anchoring of the basal body to the plasma membrane", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-5620912", "resource": "Reactome", "description": "Anchoring of the basal body to the plasma membrane" } ], "orthologs": [ { "uniprot_canonical_ac": "Q499Q5-1", "protein_name": "Tectonic-like complex member MKS1", "gene_name": "Mks1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAEAVWSTDTGEAVYRSRDPVRNLRLRVHLQRITSSNFLHYQPAAQMGKDLIDLATFKPPQAASGHRPDEEEEEEVIIGWQEKLFSQFEVDLYQNESACQSPLDHQYRQEVLKLENSGGRKNRRIFTYTDSDRYTDLEEYCQKITTSAGEAPSFLVERMANVRRRRQDRRGVEGSKLKSRIITWEPSEDFIRNSHAINTPLQTMYIMADLGPYGKLGYKIHEHVLCVLKVDSNGVITVKPDFTGIKGPYRIETEGEKQEHTSAWKYTIDNVSSLAQPEEEEREQRVFKDLYGRHKEYLSSLVGTDFEMIAPGALRLFVNGEVVSARGYEHDNLYVHFFVELPATNWSSPSFQQLSGVTQTCVTRSLGMDKVAYFSFPFTFEAFFLHEDESDESLPEWPVLYCKVLSLDFWQRYRVEGYGAVVLPVTPGSHTLTASTWRPMELGLVAELRRFFIGGSLELEDPSYVRIPGTFKGERLSRFGFRTETTGTVTFRLHCLQQSRAFMESNSLRKQMRSVLDRLEGFSQQSSTHNVLEAFRRARRRMQEARESLPQDLVSPTGTLA", "length": 561 }, "evidence": [ { "id": "45236384", "url": "http://www.informatics.jax.org/homology/45236384", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9NXB0-1", "protein_name": "Tectonic-like complex member MKS1", "gene_name": "MKS1", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MAETVWSTDTGEAVYRSRDPVRNLRLRVHLQRITSSNFLHYQPAAELGKDLIDLATFRPQPTASGHRPEEDEEEEIVIGWQEKLFSQFEVDLYQNETACQSPLDYQYRQEILKLENSGGKKNRRIFTYTDSDRYTNLEEHCQRMTTAASEVPSFLVERMANVRRRRQDRRGMEGGILKSRIVTWEPSEEFVRNNHVINTPLQTMHIMADLGPYKKLGYKKYEHVLCTLKVDSNGVITVKPDFTGLKGPYRIETEGEKQELWKYTIDNVSPHAQPEEEERERRVFKDLYGRHKEYLSSLVGTDFEMTVPGALRLFVNGEVVSAQGYEYDNLYVHFFVELPTAHWSSPAFQQLSGVTQTCTTKSLAMDKVAHFSYPFTFEAFFLHEDESSDALPEWPVLYCEVLSLDFWQRYRVEGYGAVVLPATPGSHTLTVSTWRPVELGTVAELRRFFIGGSLELEDLSYVRIPGSFKGERLSRFGLRTETTGTVTFRLHCLQQSRAFMESSSLQKRMRSVLDRLEGFSQQSSIHNVLEAFRRARRRMQEARESLPQDLVSPSGTLVS", "length": 559 }, "evidence": [ { "id": "45236384", "url": "http://www.informatics.jax.org/homology/45236384", "database": "MGI" }, { "id": "Q5SW45", "url": "https://omabrowser.org/oma/group/Q5SW45/", "database": "OMA" } ], "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 19, "go_terms": [ { "name": "regulation of Wnt signaling pathway, planar cell polarity pathway", "id": "GO:2000095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000095", "evidence": [ { "database": "UniProtKB", "id": "Q5SW45", "url": "https://www.uniprot.org/uniprot/Q5SW45" } ], "pmid": "" }, { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "Q5SW45", "url": "https://www.uniprot.org/uniprot/Q5SW45" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q5SW45", "url": "https://www.uniprot.org/uniprot/Q5SW45" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "Q5SW45", "url": "https://www.uniprot.org/uniprot/Q5SW45" } ], "pmid": "" }, { "name": "regulation of canonical Wnt signaling pathway", "id": "GO:0060828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060828", "evidence": [ { "database": "UniProtKB", "id": "Q5SW45", "url": "https://www.uniprot.org/uniprot/Q5SW45" } ], "pmid": "" }, { "name": "motile cilium assembly", "id": "GO:0044458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044458", "evidence": [ { "database": "UniProtKB", "id": "Q5SW45", "url": "https://www.uniprot.org/uniprot/Q5SW45" } ], "pmid": "" }, { "name": "embryonic digit morphogenesis", "id": "GO:0042733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042733", "evidence": [ { "database": "UniProtKB", "id": "Q5SW45", "url": "https://www.uniprot.org/uniprot/Q5SW45" } ], "pmid": "" }, { "name": "regulation of smoothened signaling pathway", "id": "GO:0008589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008589", "evidence": [ { "database": "UniProtKB", "id": "Q5SW45", "url": "https://www.uniprot.org/uniprot/Q5SW45" } ], "pmid": "" }, { "name": "non-motile cilium assembly", "id": "GO:1905515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905515", "evidence": [ { "database": "UniProtKB", "id": "Q5SW45", "url": "https://www.uniprot.org/uniprot/Q5SW45" } ], "pmid": "" }, { "name": "embryonic brain development", "id": "GO:1990403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990403", "evidence": [ { "database": "UniProtKB", "id": "Q5SW45", "url": "https://www.uniprot.org/uniprot/Q5SW45" } ], "pmid": "" }, { "name": "epithelial structure maintenance", "id": "GO:0010669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010669", "evidence": [ { "database": "UniProtKB", "id": "Q5SW45", "url": "https://www.uniprot.org/uniprot/Q5SW45" } ], "pmid": "" }, { "name": "head development", "id": "GO:0060322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060322", "evidence": [ { "database": "UniProtKB", "id": "Q5SW45", "url": "https://www.uniprot.org/uniprot/Q5SW45" } ], "pmid": "" }, { "name": "branching morphogenesis of an epithelial tube", "id": "GO:0048754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048754", "evidence": [ { "database": "UniProtKB", "id": "Q5SW45", "url": "https://www.uniprot.org/uniprot/Q5SW45" } ], "pmid": "" }, { "name": "cardiac septum morphogenesis", "id": "GO:0060411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060411", "evidence": [ { "database": "UniProtKB", "id": "Q5SW45", "url": "https://www.uniprot.org/uniprot/Q5SW45" } ], "pmid": "" }, { "name": "inner ear receptor cell stereocilium organization", "id": "GO:0060122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060122", "evidence": [ { "database": "UniProtKB", "id": "Q5SW45", "url": "https://www.uniprot.org/uniprot/Q5SW45" } ], "pmid": "" }, { "name": "embryonic skeletal system development", "id": "GO:0048706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048706", "evidence": [ { "database": "UniProtKB", "id": "Q5SW45", "url": "https://www.uniprot.org/uniprot/Q5SW45" } ], "pmid": "" }, { "name": "common bile duct development", "id": "GO:0061009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061009", "evidence": [ { "database": "UniProtKB", "id": "Q5SW45", "url": "https://www.uniprot.org/uniprot/Q5SW45" } ], "pmid": "" }, { "name": "regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning", "id": "GO:1901620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901620", "evidence": [ { "database": "UniProtKB", "id": "Q5SW45", "url": "https://www.uniprot.org/uniprot/Q5SW45" } ], "pmid": "" }, { "name": "smoothened signaling pathway involved in regulation of secondary heart field cardioblast proliferation", "id": "GO:0003271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003271", "evidence": [ { "database": "UniProtKB", "id": "Q5SW45", "url": "https://www.uniprot.org/uniprot/Q5SW45" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q5SW45", "url": "https://www.uniprot.org/uniprot/Q5SW45" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q5SW45", "url": "https://www.uniprot.org/uniprot/Q5SW45" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q5SW45", "url": "https://www.uniprot.org/uniprot/Q5SW45" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "Q5SW45", "url": "https://www.uniprot.org/uniprot/Q5SW45" } ], "pmid": "" }, { "name": "MKS complex", "id": "GO:0036038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036038", "evidence": [ { "database": "UniProtKB", "id": "Q5SW45", "url": "https://www.uniprot.org/uniprot/Q5SW45" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q5SW45", "url": "https://www.uniprot.org/uniprot/Q5SW45" } ], "pmid": "" }, { "name": "ciliary transition zone", "id": "GO:0035869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035869", "evidence": [ { "database": "UniProtKB", "id": "Q5SW45", "url": "https://www.uniprot.org/uniprot/Q5SW45" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 270, "end_pos": 272, "annotation": "n_glycosylation_sequon" }, { "start_pos": 345, "end_pos": 347, "annotation": "n_glycosylation_sequon" }, { "start_pos": 95, "end_pos": 97, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "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", "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": 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_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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "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": 9 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }