{ "uniprot_canonical_ac": "Q9JKS4-1", "uniprot_ac": "Q9JKS4", "uniprot_id": "LDB3_MOUSE", "mass": { "chemical_mass": 76432.0, "monoisotopic_mass": 76432.0 }, "refseq": { "ac": "NP_001034161", "name": "LIM domain-binding protein 3 isoform c", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034161" }, "gene_names": [ { "name": "Ldb3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9JKS4", "id": "Q9JKS4" }, { "name": "Kiaa0613", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9JKS4", "id": "Q9JKS4" }, { "name": "Ldb3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034161", "id": "NP_001034161" }, { "name": "PDLIM6; ZASP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034161", "id": "NP_001034161" } ], "protein_names": [ { "name": "LIM domain-binding protein 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9JKS4" }, { "name": "LIM domain-binding protein 3 isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034160", "id": "NP_001034160" }, { "name": "LIM domain-binding protein 3 isoform c", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034161", "id": "NP_001034161" }, { "name": "Protein cypher", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9JKS4" }, { "name": "Protein oracle", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9JKS4" }, { "name": "Z-band alternatively spliced PDZ-motif protein; cypher; PDZ-LIM domain protein; oracle protein; LIM domain-binding protein 3; protein cypher; protein oracle", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034160", "id": "NP_001034160" }, { "name": "Z-band alternatively spliced PDZ-motif protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9JKS4" } ], "function": [ { "annotation": "Beta-adrenergic regulation of CaV1.2 channels is significantly reduced in myocytes from LCyphKO mice.", "evidence": [ { "database": "RefSeq", "id": "NP_001034161", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034161" }, { "database": "PubMed", "id": "29743299", "url": "https://glygen.org/publication/PubMed/29743299" }, { "database": "RefSeq", "id": "NP_001034160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034160" } ] }, { "annotation": "Downregulation of Cypher induces apoptosis in cardiomyocytes via Akt/p38 MAPK signaling pathway. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001034161", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034161" }, { "database": "PubMed", "id": "32922198", "url": "https://glygen.org/publication/PubMed/32922198" }, { "database": "RefSeq", "id": "NP_001034160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034160" } ] }, { "annotation": "May function as an adapter in striated muscle to couple protein kinase C-mediated signaling via its LIM domains to the cytoskeleton.", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS4", "url": "https://www.uniprot.org/uniprot/Q9JKS4#function" }, { "database": "PubMed", "id": "10391924", "url": "https://glygen.org/publication/PubMed/10391924" } ] }, { "annotation": "Myopathy associated LDB3 mutation causes Z-disc disassembly and protein aggregation through PKCalpha and TSC2-mTOR downregulation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001034161", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034161" }, { "database": "PubMed", "id": "33742095", "url": "https://glygen.org/publication/PubMed/33742095" }, { "database": "RefSeq", "id": "NP_001034160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034160" } ] } ], "disease": [ { "disease_id": "DOID:0050700", "recommended_name": { "id": "DOID:0050700", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle." }, "synonyms": [ { "id": "DOID:0050700", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050700", "name": "Cardiomyopathies", "description": "" } ], "evidence": [ { "id": "0050700", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ] }, { "disease_id": "DOID:0080092", "recommended_name": { "id": "DOID:0080092", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080092", "name": "myofibrillar myopathy 1", "description": "A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35." }, "synonyms": [ { "id": "DOID:0080092", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080092", "name": "autosomal recessive limb-girdle muscular dystrophy type 2R", "description": "" }, { "id": "DOID:0080092", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080092", "name": "desminopathy", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "myofibrillar myopathy 1", "description": "A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure." }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "DES autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "DES myofibrillar myopathy (disease)", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "autosomal recessive limb-girdle muscular dystrophy type 2R", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "desmin-related myofibrillar myopathy", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "desminopathy", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "myofibrillar myopathy (disease) caused by mutation in DES", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "myofibrillar myopathy 1", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "myofibrillar myopathy type 1", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "myopathy, myofibrillar, type 1", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "CMD1F and LGMD1D", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "CMD1F and LGMD1D, formerly", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "IBM1", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "MFM1", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "arrhythmogenic right ventricular cardiomyopathy 7", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "arrhythmogenic right ventricular cardiomyopathy 7, formerly", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "arrhythmogenic right ventricular dysplasia, familial, 7", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "arrhythmogenic right ventricular dysplasia, familial, 7, formerly", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D, formerly", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "cardiomyopathy, dilated, with conduction defect and muscular dystrophy", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "desmin-related myopathy", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "desminopathy, primary", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "inclusion body myopathy 1, autosomal dominant", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "inclusion body myopathy 1, autosomal dominant, formerly", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "myopathy, myofibrillar, 1", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "myopathy, myofibrillar, desmin-related", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "myofibrillar myopathy 1", "description": "A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure." }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "DES autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "DES myofibrillar myopathy (disease)", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "autosomal recessive limb-girdle muscular dystrophy type 2R", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "desmin-related myofibrillar myopathy", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "desminopathy", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "myofibrillar myopathy (disease) caused by mutation in DES", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "myofibrillar myopathy 1", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "myofibrillar myopathy type 1", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "myopathy, myofibrillar, type 1", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "CMD1F and LGMD1D", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "CMD1F and LGMD1D, formerly", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "IBM1", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "MFM1", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "arrhythmogenic right ventricular cardiomyopathy 7", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "arrhythmogenic right ventricular cardiomyopathy 7, formerly", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "arrhythmogenic right ventricular dysplasia, familial, 7", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "arrhythmogenic right ventricular dysplasia, familial, 7, formerly", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D, formerly", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "cardiomyopathy, dilated, with conduction defect and muscular dystrophy", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "desmin-related myopathy", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "desminopathy, primary", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "inclusion body myopathy 1, autosomal dominant", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "inclusion body myopathy 1, autosomal dominant, formerly", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "myopathy, myofibrillar, 1", "description": "" }, { "id": "MONDO:0011076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011076", "name": "myopathy, myofibrillar, desmin-related", "description": "" }, { "id": "MIM:601419", "resource": "MIM", "url": "https://www.omim.org/entry/601419", "name": "Myopathy, myofibrillar, 1", "description": "Myopathy, myofibrillar, 1" } ], "evidence": [ { "id": "0080092", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080092" } ] }, { "disease_id": "DOID:0080095", "recommended_name": { "id": "DOID:0080095", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080095", "name": "myofibrillar myopathy 4", "description": "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the ZASP gene on chromosome 10." }, "synonyms": [ { "id": "DOID:0080095", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080095", "name": "zaspopathy", "description": "" }, { "id": "MONDO:0012277", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012277", "name": "myofibrillar myopathy 4", "description": "Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases." }, { "id": "MONDO:0012277", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012277", "name": "LDB3 myofibrillar myopathy (disease)", "description": "" }, { "id": "MONDO:0012277", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012277", "name": "ZASP-related myofibrillar myopathy", "description": "" }, { "id": "MONDO:0012277", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012277", "name": "myofibrillar myopathy (disease) caused by mutation in LDB3", "description": "" }, { "id": "MONDO:0012277", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012277", "name": "myofibrillar myopathy type 4", "description": "" }, { "id": "MONDO:0012277", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012277", "name": "myopathy, myofibrillar, type 4", "description": "" }, { "id": "MONDO:0012277", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012277", "name": "zaspopathy", "description": "" }, { "id": "MONDO:0012277", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012277", "name": "MFM4", "description": "" }, { "id": "MONDO:0012277", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012277", "name": "late-onset distal myopathy, Markesbery-Griggs type", "description": "" }, { "id": "MONDO:0012277", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012277", "name": "myopathy, myofibrillar, 4", "description": "" }, { "id": "MIM:609452", "resource": "MIM", "url": "https://www.omim.org/entry/609452", "name": "Myopathy, myofibrillar, 4", "description": "Myopathy, myofibrillar, 4" } ], "evidence": [ { "id": "0080095", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080095" } ] }, { "disease_id": "DOID:0081337", "recommended_name": { "id": "DOID:0081337", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081337", "name": "congenital myopathy", "description": "A myopathy that is characterized by hypotonia and weakness, usually present from birth." }, "synonyms": [], "evidence": [ { "id": "0081337", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0081337" } ] }, { "disease_id": "DOID:0110423", "recommended_name": { "id": "DOID:0110423", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110423", "name": "dilated cardiomyopathy 1C", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the LDB3 gene on chromosome 10q23.2." }, "synonyms": [ { "id": "DOID:0110423", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110423", "name": "CMDC1", "description": "" }, { "id": "DOID:0110423", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110423", "name": "dilated cardiomyopathy 1C with or without left ventricular noncompaction", "description": "" }, { "id": "MONDO:0011094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011094", "name": "dilated cardiomyopathy 1C", "description": "A dilated cardiomyopathy that has material basis in mutation in the LDB3 gene on chromosome 10q23.2." }, { "id": "MONDO:0011094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011094", "name": "CMDC1", "description": "" }, { "id": "MONDO:0011094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011094", "name": "cardiomyopathy, dilated, 1C, with or without LVNC", "description": "" }, { "id": "MONDO:0011094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011094", "name": "cardiomyopathy, hypertrophic, 24", "description": "" }, { "id": "MONDO:0011094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011094", "name": "dilated cardiomyopathy 1C with or without left ventricular noncompaction", "description": "" }, { "id": "MONDO:0011094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011094", "name": "dilated cardiomyopathy type 1C", "description": "" }, { "id": "MONDO:0011094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011094", "name": "CMD1C", "description": "" }, { "id": "MONDO:0011094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011094", "name": "cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction", "description": "" }, { "id": "MONDO:0011094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011094", "name": "cardiomyopathy, familial hypertrophic, 24", "description": "" }, { "id": "MONDO:0011094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011094", "name": "left ventricular noncompaction 3", "description": "" }, { "id": "MIM:601493", "resource": "MIM", "url": "https://www.omim.org/entry/601493", "name": "Left ventricular non-compaction 3", "description": "Left ventricular non-compaction 3" } ], "evidence": [ { "id": "0110423", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110423" } ] }, { "disease_id": "DOID:11720", "recommended_name": { "id": "DOID:11720", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11720", "name": "distal myopathy", "description": "A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands." }, "synonyms": [ { "id": "DOID:11720", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11720", "name": "Miyoshi muscular dystrophy", "description": "" }, { "id": "DOID:11720", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11720", "name": "distal muscular dystrophy", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "MYH7-related skeletal myopathy", "description": "Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course." }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "Gowers disease", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "Laing distal myopathy", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "Laing early-onset distal myopathy", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "MPD1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "MYH7-related skeletal myopathy", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "distal myopathy type 1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, distal, type 1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy distal, type 1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, distal, 1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, distal, early-onset, autosomal dominant", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, late distal hereditary", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myosin storage myopathy", "description": "" }, { "id": "MIM:160500", "resource": "MIM", "url": "https://www.omim.org/entry/160500", "name": "Myopathy, distal, 1", "description": "Myopathy, distal, 1" } ], "evidence": [ { "id": "11720", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11720" } ] }, { "disease_id": "DOID:11722", "recommended_name": { "id": "DOID:11722", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11722", "name": "myotonic dystrophy type 1", "description": "A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region." }, "synonyms": [ { "id": "DOID:11722", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11722", "name": "Dystrophia myotonica", "description": "" }, { "id": "DOID:11722", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11722", "name": "Steinert disease", "description": "" }, { "id": "DOID:11722", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11722", "name": "congenital myotonic dystrophy", "description": "" }, { "id": "DOID:11722", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11722", "name": "myotonic dystrophy of Steinert", "description": "" }, { "id": "MONDO:0008056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008056", "name": "myotonic dystrophy type 1", "description": "Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness." }, { "id": "MONDO:0008056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008056", "name": "DM1", "description": "" }, { "id": "MONDO:0008056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008056", "name": "DMPK myotonic dystrophy", "description": "" }, { "id": "MONDO:0008056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008056", "name": "MD1", "description": "" }, { "id": "MONDO:0008056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008056", "name": "Steinert disease", "description": "" }, { "id": "MONDO:0008056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008056", "name": "Steinert myotonic dystrophy syndrome", "description": "" }, { "id": "MONDO:0008056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008056", "name": "Steinert syndrome", "description": "" }, { "id": "MONDO:0008056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008056", "name": "dystrophia myotonica", "description": "" }, { "id": "MONDO:0008056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008056", "name": "myotonic dystrophy caused by mutation in DMPK", "description": "" }, { "id": "MONDO:0008056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008056", "name": "myotonic dystrophy of Steinert", "description": "" }, { "id": "MONDO:0008056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008056", "name": "myotonic dystrophy type 1", "description": "" }, { "id": "MONDO:0008056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008056", "name": "Steinert myotonic dystrophy", "description": "" }, { "id": "MONDO:0008056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008056", "name": "Steinert's disease", "description": "" }, { "id": "MONDO:0008056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008056", "name": "dystrophia myotonica 1", "description": "" }, { "id": "MONDO:0008056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008056", "name": "dystrophia myotonica type 1", "description": "" }, { "id": "MONDO:0008056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008056", "name": "myotonic dystrophy 1", "description": "" }, { "id": "MIM:160900", "resource": "MIM", "url": "https://www.omim.org/entry/160900", "name": "Dystrophia myotonica 1", "description": "Dystrophia myotonica 1" } ], "evidence": [ { "id": "11722", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11722" } ] }, { "disease_id": "DOID:12930", "recommended_name": { "id": "DOID:12930", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently." }, "synonyms": [ { "id": "DOID:12930", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12930", "name": "primary dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, congestive", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, familial idiopathic", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, idiopathic dilated", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ], "evidence": [ { "id": "12930", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ] }, { "disease_id": "DOID:423", "recommended_name": { "id": "DOID:423", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:423", "name": "myopathy", "description": "A muscular disease in which the muscle fibers do not function resulting in muscular weakness." }, "synonyms": [], "evidence": [ { "id": "423", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:423" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JKS4", "url": "https://www.uniprot.org/uniprot/Q9JKS4" } ], "common_name": "Mouse" } ], "gene": [ { "name": "Ldb3", "url": "https://www.uniprot.org/uniprot/Q9JKS4", "locus": { "chromosome": "14", "start_pos": 34248560, "end_pos": 34310639, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000021798", "url": "https://www.ensembl.org/id/ENSMUSG00000021798" } ] } } ], "crossref": [ { "id": "ENSMUSG00000021798", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000021798", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd00992", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00992", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd09362", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd09362", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd09454", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd09454", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd09460", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd09460", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "24131", "url": "https://www.ncbi.nlm.nih.gov/gene/24131", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "GPDB0007591", "url": "https://acgg.asia/db/gpdb/symbol/GPDB0007591", "database": "GlycoProtDB", "categories": [ "Glycoproteomics" ] }, { "id": "GPDB0007592", "url": "https://acgg.asia/db/gpdb/symbol/GPDB0007592", "database": "GlycoProtDB", "categories": [ "Glycoproteomics" ] }, { "id": "GPDB0007593", "url": "https://acgg.asia/db/gpdb/symbol/GPDB0007593", "database": "GlycoProtDB", "categories": [ "Glycoproteomics" ] }, { "id": "Q9JKS4", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q9JKS4*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001478", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001478", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001781", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001781", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR006643", "url": "https://www.ebi.ac.uk/interpro/entry/IPR006643", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR031847", "url": "https://www.ebi.ac.uk/interpro/entry/IPR031847", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036034", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036034", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "mmu:24131", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:24131", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "1344412", "url": "http://www.informatics.jax.org/marker/MGI:1344412", "database": "MGI", "categories": [ "Organism-specific" ] }, { "id": "Q9JKS4", "url": "https://oglcnac.org/atlas/detail/Q9JKS4", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "Q9JKS4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9JKS4", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "GAPYCKL", "url": "https://omabrowser.org/oma/group/GAPYCKL/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "370973at2759", "url": "http://www.orthodb.org/?query=370973at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR24214", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24214", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24214:SF9", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24214:SF9", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1WJL", "url": "https://www.rcsb.org/structure/1WJL", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00412", "url": "http://pfam.xfam.org/family/PF00412", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00595", "url": "http://pfam.xfam.org/family/PF00595", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF15936", "url": "http://pfam.xfam.org/family/PF15936", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_Q9JKS4", "url": "http://purl.obolibrary.org/obo/PR_Q9JKS4", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001034160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034160", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "E9PYJ9", "url": "https://www.uniprot.org/uniprot/E9PYJ9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PYJ9-1", "url": "https://www.uniprot.org/uniprot/E9PYJ9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9JKS4", "url": "https://www.uniprot.org/uniprot/Q9JKS4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9JKS4-1", "url": "https://www.uniprot.org/uniprot/Q9JKS4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9JKS4-2", "url": "https://www.uniprot.org/uniprot/Q9JKS4-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9JKS4-3", "url": "https://www.uniprot.org/uniprot/Q9JKS4-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9JKS4-4", "url": "https://www.uniprot.org/uniprot/Q9JKS4-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9JKS4-5", "url": "https://www.uniprot.org/uniprot/Q9JKS4-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9JKS4-6", "url": "https://www.uniprot.org/uniprot/Q9JKS4-6", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSYSVTLTGPGPWGFRLQGGKDFNMPLTISRITPGSKAAQSQLSQGDLVVAIDGVNTDTMTHLEAQNKIKSASYNLSLTLQKSKRPIPISTTAPPIQSPLPVIPHQKDPALDTNGSLATPSPSPEARASPGALEFGDTFSSSFSQTSVCSPLMEASGPVLPLGSPVAKASSEGAQGSVSPKVLPGPSQPRQYNNPIGLYSAETLREMAQMYQMSLRGKASGAGLLGGSLPVKDLAVDSASPVYQAVIKTQSKPEDEADEWARRSSNLQSRSFRILAQMTGTEYMQDPDEEALRRSSTPIEHAPVCTSQATSPLLPASAQSPAAASPIAASPTLATAAATHAAAASAAGPAASPVENPRPQASAYSPAAAASPAPSAHTSYSEGPAAPAPKPRVVTTASIRPSVYQPVPASSYSPSPGANYSPTPYTPSPAPAYTPSPAPTYTPSPAPTYSPSPAPAYTPSPAPNYTPTPSAAYSGGPSESASRPPWVTDDSFSQKFAPGKSTTTVSKQTLPRGAPAYNPTGPQVTPLARGTFQRAERFPASSRTPLCGHCNNVIRGPFLVAMGRSWHPEEFNCAYCKTSLADVCFVEEQNNVYCERCYEQFFAPICAKCNTKIMGEVMHALRQTWHTTCFVCAACKKPFGNSLFHMEDGEPYCEKDYINLFSTKCHGCDFPVEAGDKFIEALGHTWHDTCFICAVCHVNLEGQPFYSKKDKPLCKKHAHAINV", "length": 723, "header": "sp|Q9JKS4-1|LDB3_MOUSE Isoform 1 of LIM domain-binding protein 3 OS=Mus musculus OX=10090 GN=Ldb3 PE=1 SV=1 CANONICAL=Q9JKS4-1" }, "isoforms": [ { "isoform_ac": "E9PYJ9-1", "url": "", "sequence": { "sequence": "MSYSVTLTGPGPWGFRLQGGKDFNMPLTISRITPGSKAAQSQLSQGDLVVAIDGVNTDTMTHLEAQNKIKSASYNLSLTLQKSKRPIPISTTAPPIQSPLPVIPHQKVVANSPANADYQERFNPSVLKDSALSTHKPIEVKGLGGKATIIHAQYNTPISMYSQDAIMDAIAGQAQAQGSDFSGSLPVKDLAVDSASPVYQAVIKTQSKPEDEADEWARRSSNLQSRSFRILAQMTGTEYMQDPDEEALRRSSTPIEHAPVCTSQATSPLLPASAQSPAAASPIAASPTLATAAATHAAAASAAGPAASPVENPRPQASAYSPAAAASPAPSAHTSYSEGPAAPAPKPRVVTTASIRPSVYQPVPASSYSPSPGANYSPTPYTPSPAPAYTPSPAPTYTPSPAPTYSPSPAPAYTPSPAPNYTPTPSAAYSGGPSESASRPPWVTDDSFSQKFAPGKSTTTVSKQTLPRGAPAYNPTGPQVTPLARGTFQRAERFPASSRTPLCGHCNNVIRGPFLVAMGRSWHPEEFNCAYCKTSLADVCFVEEQNNVYCERCYEQFFAPICAKCNTKIMGEVMHALRQTWHTTCFVCAACKKPFGNSLFHMEDGEPYCEKDYINLFSTKCHGCDFPVEAGDKFIEALGHTWHDTCFICAVCHVNLEGQPFYSKKDKPLCKKHAHAINV", "length": 679, "header": "tr|E9PYJ9-1|LDB3_MOUSE Computationally mapped isoform of LIM domain-binding protein 3 OS=Mus musculus OX=10090 GN=Ldb3 PE=1 SV=1 CANONICAL=Q9JKS4-1" }, "locus": { "chromosome": "14", "start_pos": 34310426, "end_pos": 34251420, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000064098.14", "url": "https://www.ensembl.org/id/ENSMUST00000064098.14" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000066784.7", "url": "https://www.ensembl.org/id/ENSMUSP00000066784.7" } ] } }, { "isoform_ac": "Q9JKS4-1", "url": "", "sequence": { "sequence": "MSYSVTLTGPGPWGFRLQGGKDFNMPLTISRITPGSKAAQSQLSQGDLVVAIDGVNTDTMTHLEAQNKIKSASYNLSLTLQKSKRPIPISTTAPPIQSPLPVIPHQKDPALDTNGSLATPSPSPEARASPGALEFGDTFSSSFSQTSVCSPLMEASGPVLPLGSPVAKASSEGAQGSVSPKVLPGPSQPRQYNNPIGLYSAETLREMAQMYQMSLRGKASGAGLLGGSLPVKDLAVDSASPVYQAVIKTQSKPEDEADEWARRSSNLQSRSFRILAQMTGTEYMQDPDEEALRRSSTPIEHAPVCTSQATSPLLPASAQSPAAASPIAASPTLATAAATHAAAASAAGPAASPVENPRPQASAYSPAAAASPAPSAHTSYSEGPAAPAPKPRVVTTASIRPSVYQPVPASSYSPSPGANYSPTPYTPSPAPAYTPSPAPTYTPSPAPTYSPSPAPAYTPSPAPNYTPTPSAAYSGGPSESASRPPWVTDDSFSQKFAPGKSTTTVSKQTLPRGAPAYNPTGPQVTPLARGTFQRAERFPASSRTPLCGHCNNVIRGPFLVAMGRSWHPEEFNCAYCKTSLADVCFVEEQNNVYCERCYEQFFAPICAKCNTKIMGEVMHALRQTWHTTCFVCAACKKPFGNSLFHMEDGEPYCEKDYINLFSTKCHGCDFPVEAGDKFIEALGHTWHDTCFICAVCHVNLEGQPFYSKKDKPLCKKHAHAINV", "length": 723, "header": "sp|Q9JKS4-1|LDB3_MOUSE Isoform 1 of LIM domain-binding protein 3 OS=Mus musculus OX=10090 GN=Ldb3 PE=1 SV=1 CANONICAL=Q9JKS4-1" }, "locus": { "chromosome": "14", "start_pos": 34310426, "end_pos": 34251420, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000022327", "url": "https://www.ensembl.org/id/ENSMUST00000022327" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000022327", "url": "https://www.ensembl.org/id/ENSMUSP00000022327" } ] } }, { "isoform_ac": "Q9JKS4-2", "url": "", "sequence": { "sequence": "MSYSVTLTGPGPWGFRLQGGKDFNMPLTISRITPGSKAAQSQLSQGDLVVAIDGVNTDTMTHLEAQNKIKSASYNLSLTLQKSKRPIPISTTAPPIQSPLPVIPHQKVVANSPANADYQERFNPSVLKDSALSTHKPIEVKGLGGKATIIHAQYNTPISMYSQDAIMDAIAGQAQAQGSDFSGASPLASLPVKDLAVDSASPVYQAVIKTQSKPEDEADEWARRSSNLQSRSFRILAQMTGTEYMQDPDEEALRRSSTPIEHAPVCTSQATSPLLPASAQSPAAASPIAASPTLATAAATHAAAASAAGPAASPVENPRPQASAYSPAAAASPAPSAHTSYSEGPAAPAPKPRVVTTASIRPSVYQPVPASSYSPSPGANYSPTPYTPSPAPAYTPSPAPTYTPSPAPTYSPSPAPAYTPSPAPNYTPTPSAAYSGGPSESASRPPWVTDDSFSQKFAPGKSTTTVSKQTLPRGAPAYNPTGPQVTPLARGTFQRAERFPASSRTPLCGHCNNVIRGPFLVAMGRSWHPEEFNCAYCKTSLADVCFVEEQNNVYCERCYEQFFAPICAKCNTKIMGEVMHALRQTWHTTCFVCAACKKPFGNSLFHMEDGEPYCEKDYINLFSTKCHGCDFPVEAGDKFIEALGHTWHDTCFICAVCHVNLEGQPFYSKKDKPLCKKHAHAINV", "length": 684, "header": "sp|Q9JKS4-2|LDB3_MOUSE Isoform 2 of LIM domain-binding protein 3 OS=Mus musculus OX=10090 GN=Ldb3 PE=1 SV=1 CANONICAL=Q9JKS4-1" }, "locus": { "chromosome": "14", "start_pos": 34310426, "end_pos": 34251420, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000090040", "url": "https://www.ensembl.org/id/ENSMUST00000090040" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000087494", "url": "https://www.ensembl.org/id/ENSMUSP00000087494" } ] } }, { "isoform_ac": "Q9JKS4-3", "url": "", "sequence": { "sequence": "MSYSVTLTGPGPWGFRLQGGKDFNMPLTISRITPGSKAAQSQLSQGDLVVAIDGVNTDTMTHLEAQNKIKSASYNLSLTLQKSKRPIPISTTAPPIQSPLPVIPHQKDPALDTNGSLATPSPSPEARASPGALEFGDTFSSSFSQTSVCSPLMEASGPVLPLGSPVAKASSEGAQGSVSPKVLPGPSQPRQYNNPIGLYSAETLREMAQMYQMSLRGKASGAGLLGGSLPVKDLAVDSASPVYQAVIKTQSKPEDEADEWARRSSNLQSRSFRILAQMTGTEYMQDPDEEALRRSRPQASAYSPAAAASPAPSAHTSYSEGPAAPAPKPRVVTTASIRPSVYQPVPASSYSPSPGANYSPTPYTPSPAPAYTPSPAPTYTPSPAPTYSPSPAPAYTPSPAPNYTPTPSAAYSGGPSESASRPPWVTDDSFSQKFAPGKSTTTVSKQTLPRGAPAYNPTGPQVTPLARGTFQRAERFPASSRTPLCGHCNNVIRGPFLVAMGRSWHPEEFNCAYCKTSLADVCFVEEQNNVYCERCYEQFFAPICAKCNTKIMGEVMHALRQTWHTTCFVCAACKKPFGNSLFHMEDGEPYCEKDYINLFSTKCHGCDFPVEAGDKFIEALGHTWHDTCFICAVCHVNLEGQPFYSKKDKPLCKKHAHAINV", "length": 661, "header": "sp|Q9JKS4-3|LDB3_MOUSE Isoform 3 of LIM domain-binding protein 3 OS=Mus musculus OX=10090 GN=Ldb3 PE=1 SV=1 CANONICAL=Q9JKS4-1" }, "locus": { "chromosome": "14", "start_pos": 34310426, "end_pos": 34251420, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000022328", "url": "https://www.ensembl.org/id/ENSMUST00000022328" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000022328", "url": "https://www.ensembl.org/id/ENSMUSP00000022328" } ] } }, { "isoform_ac": "Q9JKS4-4", "url": "", "sequence": { "sequence": "MSYSVTLTGPGPWGFRLQGGKDFNMPLTISRITPGSKAAQSQLSQGDLVVAIDGVNTDTMTHLEAQNKIKSASYNLSLTLQKSKRPIPISTTAPPIQSPLPVIPHQKVVANSPANADYQERFNPSVLKDSALSTHKPIEVKGLGGKATIIHAQYNTPISMYSQDAIMDAIAGQAQAQGSDFSGASPLASLPVKDLAVDSASPVYQAVIKTQSKPEDEADEWARRSSNLQSRSFRILAQMTGTEYMQDPDEEALRRSRPQASAYSPAAAASPAPSAHTSYSEGPAAPAPKPRVVTTASIRPSVYQPVPASSYSPSPGANYSPTPYTPSPAPAYTPSPAPTYTPSPAPTYSPSPAPAYTPSPAPNYTPTPSAAYSGGPSESASRPPWVTDDSFSQKFAPGKSTTTVSKQTLPRGAPAYNPTGPQVTPLARGTFQRAERFPASSRTPLCGHCNNVIRGPFLVAMGRSWHPEEFNCAYCKTSLADVCFVEEQNNVYCERCYEQFFAPICAKCNTKIMGEVMHALRQTWHTTCFVCAACKKPFGNSLFHMEDGEPYCEKDYINLFSTKCHGCDFPVEAGDKFIEALGHTWHDTCFICAVCHVNLEGQPFYSKKDKPLCKKHAHAINV", "length": 622, "header": "sp|Q9JKS4-4|LDB3_MOUSE Isoform 4 of LIM domain-binding protein 3 OS=Mus musculus OX=10090 GN=Ldb3 PE=1 SV=1 CANONICAL=Q9JKS4-1" }, "locus": { "chromosome": "14", "start_pos": 34310426, "end_pos": 34251420, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000228044", "url": "https://www.ensembl.org/id/ENSMUST00000228044" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000154758", "url": "https://www.ensembl.org/id/ENSMUSP00000154758" } ] } }, { "isoform_ac": "Q9JKS4-5", "url": "", "sequence": { "sequence": "MSYSVTLTGPGPWGFRLQGGKDFNMPLTISRITPGSKAAQSQLSQGDLVVAIDGVNTDTMTHLEAQNKIKSASYNLSLTLQKSKRPIPISTTAPPIQSPLPVIPHQKDPALDTNGSLATPSPSPEARASPGALEFGDTFSSSFSQTSVCSPLMEASGPVLPLGSPVAKASSEGAQGSVSPKVLPGPSQPRQYNNPIGLYSAETLREMAQMYQMSLRGKASGAGLLGGSLPVKDLAVDSASPVYQAVIKTQSKPEDEADEWARRSSNLQSRSFRILAQMTGTEYMQDPDEEALRRSRERFETERNSPRFAKLRNWHHGLSAQILNVKS", "length": 327, "header": "sp|Q9JKS4-5|LDB3_MOUSE Isoform 5 of LIM domain-binding protein 3 OS=Mus musculus OX=10090 GN=Ldb3 PE=1 SV=1 CANONICAL=Q9JKS4-1" }, "locus": { "chromosome": "14", "start_pos": 34310426, "end_pos": 34283745, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000022330", "url": "https://www.ensembl.org/id/ENSMUST00000022330" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000022330", "url": "https://www.ensembl.org/id/ENSMUSP00000022330" } ] } }, { "isoform_ac": "Q9JKS4-6", "url": "", "sequence": { "sequence": "MSYSVTLTGPGPWGFRLQGGKDFNMPLTISRITPGSKAAQSQLSQGDLVVAIDGVNTDTMTHLEAQNKIKSASYNLSLTLQKSKRPIPISTTAPPIQSPLPVIPHQKVVANSPANADYQERFNPSVLKDSALSTHKPIEVKGLGGKATIIHAQYNTPISMYSQDAIMDAIAGQAQAQGSDFSGASPLASLPVKDLAVDSASPVYQAVIKTQSKPEDEADEWARRSSNLQSRSFRILAQMTGTEYMQDPDEEALRRSRERFETERNSPRFAKLRNWHHGLSAQILNVKS", "length": 288, "header": "sp|Q9JKS4-6|LDB3_MOUSE Isoform 6 of LIM domain-binding protein 3 OS=Mus musculus OX=10090 GN=Ldb3 PE=1 SV=1 CANONICAL=Q9JKS4-1" }, "locus": { "chromosome": "14", "start_pos": 34310426, "end_pos": 34283745, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000227819", "url": "https://www.ensembl.org/id/ENSMUST00000227819" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000154119", "url": "https://www.ensembl.org/id/ENSMUSP00000154119" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 90, "start_aa": "Ser", "end_pos": 90, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser90", "evidence": [ { "id": "Q9JKS4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9JKS4" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "Q9JKS4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9JKS4" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 91, "start_aa": "Thr", "end_pos": 91, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr91", "evidence": [ { "id": "Q9JKS4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9JKS4" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "Q9JKS4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9JKS4" } ] } ], "phosphorylation": [ { "start_pos": 119, "end_pos": 119, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS4", "url": "https://www.uniprot.org/uniprot/Q9JKS4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JKS4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JKS4" } ], "site_lbl": "Thr119" }, { "start_pos": 121, "end_pos": 121, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS4", "url": "https://www.uniprot.org/uniprot/Q9JKS4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JKS4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JKS4" } ], "site_lbl": "Ser121" }, { "start_pos": 123, "end_pos": 123, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS4", "url": "https://www.uniprot.org/uniprot/Q9JKS4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JKS4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JKS4" } ], "site_lbl": "Ser123" }, { "start_pos": 214, "end_pos": 214, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS4", "url": "https://www.uniprot.org/uniprot/Q9JKS4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JKS4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JKS4" } ], "site_lbl": "Ser214" }, { "start_pos": 220, "end_pos": 220, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS4", "url": "https://www.uniprot.org/uniprot/Q9JKS4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JKS4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JKS4" } ], "site_lbl": "Ser220" }, { "start_pos": 251, "end_pos": 251, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS4", "url": "https://www.uniprot.org/uniprot/Q9JKS4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JKS4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JKS4" } ], "site_lbl": "Ser251" }, { "start_pos": 44, "end_pos": 44, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS4", "url": "https://www.uniprot.org/uniprot/Q9JKS4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JKS4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JKS4" } ], "site_lbl": "Ser44" }, { "start_pos": 98, "end_pos": 98, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS4", "url": "https://www.uniprot.org/uniprot/Q9JKS4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JKS4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JKS4" } ], "site_lbl": "Ser98" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Cypher, a striated muscle-restricted PDZ and LIM domain-containing protein, binds to alpha-actinin-2 and protein kinase C.", "journal": "J. Biol. Chem.", "date": "1999", "authors": "Zhou Q, Ruiz-Lozano P, Martone ME, Chen J", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS4", "url": "https://www.uniprot.org/uniprot/Q9JKS4" } ], "reference": [ { "type": "PubMed", "id": "10391924", "url": "https://glygen.org/publication/PubMed/10391924" } ] }, { "title": "ZASP: a new Z-band alternatively spliced PDZ-motif protein.", "journal": "J. Cell Biol.", "date": "1999", "authors": "Lanfranchi G., Valle G., Bortoletto G., Comelli A., Faulkner G., Formentin E., Ievolella C., Mouly V., Pallavicini A., Salamon M., Scannapieco P., Trevisan S.", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS4", "url": "https://www.uniprot.org/uniprot/Q9JKS4" } ], "reference": [ { "type": "PubMed", "id": "10427098", "url": "https://glygen.org/publication/PubMed/10427098" } ] }, { "title": "Oracle, a novel PDZ-LIM domain protein expressed in heart and skeletal muscle.", "journal": "Mech. Dev.", "date": "2000", "authors": "Passier R, Richardson JA, Olson EN", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS4", "url": "https://www.uniprot.org/uniprot/Q9JKS4" } ], "reference": [ { "type": "PubMed", "id": "10727866", "url": "https://glygen.org/publication/PubMed/10727866" } ] }, { "title": "Characterization and in vivo functional analysis of splice variants of cypher.", "journal": "J. Biol. Chem.", "date": "2003", "authors": "Chen J., Huang C., Li X., Zhou Q., Evans S., Liang P., Sheikh F., Shelton G.D., Greaser M., Hollander M.S.", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS4", "url": "https://www.uniprot.org/uniprot/Q9JKS4" } ], "reference": [ { "type": "PubMed", "id": "12499364", "url": "https://glygen.org/publication/PubMed/12499364" } ] }, { "title": "A tissue-specific atlas of mouse protein phosphorylation and expression.", "journal": "Cell", "date": "2010", "authors": "Huttlin EL, Jedrychowski MP, Elias JE, Goswami T, Rad R, Beausoleil SA, Villen J, Haas W, Sowa ME, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS4", "url": "https://www.uniprot.org/uniprot/Q9JKS4" }, { "database": "iPTMnet", "id": "Q9JKS4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JKS4" } ], "reference": [ { "type": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" } ] }, { "title": "Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.", "journal": "Mol. Cell. Proteomics", "date": "2014", "authors": "Guo A, Gu H, Zhou J, Mulhern D, Wang Y, Lee KA, Yang V, Aguiar M, Kornhauser J, Jia X, Ren J, Beausoleil SA, Silva JC, Vemulapalli V, Bedford MT, Comb MJ", "evidence": [ { "database": "UniProtKB", "id": "E9PYJ9", "url": "https://www.uniprot.org/uniprot/E9PYJ9" }, { "database": "UniProtKB", "id": "Q9JKS4", "url": "https://www.uniprot.org/uniprot/Q9JKS4" } ], "reference": [ { "type": "PubMed", "id": "24129315", "url": "https://glygen.org/publication/PubMed/24129315" } ] }, { "title": "The AKAP Cypher/Zasp contributes to beta-adrenergic/PKA stimulation of cardiac CaV1.2 calcium channels.", "journal": "The Journal of general physiology", "date": "2018", "authors": "Yu H, Yuan C, Westenbroek RE, Catterall WA", "evidence": [ { "database": "RefSeq", "id": "NP_001034161", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034161" }, { "database": "RefSeq", "id": "NP_001034160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034160" } ], "reference": 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Fang J, Xiang Y, Cheng H, Wang X, Guo X", "evidence": [ { "database": "RefSeq", "id": "NP_001034161", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034161" }, { "database": "RefSeq", "id": "NP_001034160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034160" } ], "reference": [ { "type": "PubMed", "id": "32922198", "url": "https://glygen.org/publication/PubMed/32922198" } ] }, { "title": "Myopathy associated LDB3 mutation causes Z-disc disassembly and protein aggregation through PKCalpha and TSC2-mTOR downregulation.", "journal": "Communications biology", "date": "2021", "authors": "Pathak P, Blech-Hermoni Y, Subedi K, Mpamugo J, Obeng-Nyarko C, Ohman R, Molloy I, Kates M, Hale J, Stauffer S, Sharan SK, Mankodi A", "evidence": [ { "database": "RefSeq", "id": "NP_001034160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034160" }, { "database": "RefSeq", "id": "NP_001034161", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034161" } ], "reference": [ { "type": 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