{ "uniprot_canonical_ac": "O75112-1", "uniprot_ac": "O75112", "uniprot_id": "LDB3_HUMAN", "mass": { "chemical_mass": 77135.0, "monoisotopic_mass": 77135.0 }, "refseq": { "ac": "NP_001073583", "name": "LIM domain-binding protein 3 isoform 2", "summary": "This gene encodes a PDZ domain-containing protein. PDZ motifs are modular protein-protein interaction domains consisting of 80-120 amino acid residues. PDZ domain-containing proteins interact with each other in cytoskeletal assembly or with other proteins involved in targeting and clustering of membrane proteins. The protein encoded by this gene interacts with alpha-actinin-2 through its N-terminal PDZ domain and with protein kinase C via its C-terminal LIM domains. The LIM domain is a cysteine-rich motif defined by 50-60 amino acids containing two zinc-binding modules. This protein also interacts with all three members of the myozenin family. Mutations in this gene have been associated with myofibrillar myopathy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been identified; all isoforms have N-terminal PDZ domains while only longer isoforms (1, 2 and 5) have C-terminal LIM domains. [provided by RefSeq, Jan 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073583" }, "gene_names": [ { "name": "LDB3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75112", "id": "O75112" }, { "name": "CMD1C; CMH24; CMPD3; CYPHER; LDB3Z1; LDB3Z4; LVNC3; MFM4; ORACLE; PDLIM6; ZASP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073583", "id": "NP_001073583" }, { "name": "KIAA0613", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75112", "id": "O75112" }, { "name": "LDB3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073583", "id": "NP_001073583" }, { "name": "ZASP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75112", "id": "O75112" } ], "protein_names": [ { "name": "LIM domain-binding protein 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75112" }, { "name": "LIM domain-binding protein 3 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073583", "id": "NP_001073583" }, { "name": "PDZ and LIM domain 6; Z-band alternatively spliced PDZ-motif protein; LIM domain-binding protein 3; protein cypher; cardiomyopathy, dilated 1C (autosomal dominant)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073583", "id": "NP_001073583" }, { "name": "Protein cypher", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75112" }, { "name": "Z-band alternatively spliced PDZ-motif protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75112" } ], "function": [ { "annotation": "Alterations of protein expression of phospholamban, ZASP and plakoglobin in human atria in subgroups of seniors. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001073583", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073583" }, { "database": "PubMed", "id": "30948763", "url": "https://glygen.org/publication/PubMed/30948763" } ] }, { "annotation": "Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy.", "evidence": [ { "database": "RefSeq", "id": "NP_001073583", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073583" }, { "database": "PubMed", "id": "36253531", "url": "https://glygen.org/publication/PubMed/36253531" } ] }, { "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": "O75112", "url": "https://www.uniprot.org/uniprot/O75112#function" } ] }, { "annotation": "Protein aggregates and autophagy involvement in a family with a mutation in Z-band alternatively spliced PDZ-motif protein.", "evidence": [ { "database": "RefSeq", "id": "NP_001073583", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073583" }, { "database": "PubMed", "id": "33308939", "url": "https://glygen.org/publication/PubMed/33308939" } ] }, { "annotation": "The rs4468255 of LIM domain binding 3 (LDB3) is significantly correlated with idiopathic dilated cardiomyopathy of Chinese Han population", "evidence": [ { "database": "RefSeq", "id": "NP_001073583", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073583" }, { "database": "PubMed", "id": "31379146", "url": "https://glygen.org/publication/PubMed/31379146" } ] }, { "annotation": "This gene encodes a PDZ domain-containing protein. PDZ motifs are modular protein-protein interaction domains consisting of 80-120 amino acid residues. PDZ domain-containing proteins interact with each other in cytoskeletal assembly or with other proteins involved in targeting and clustering of membrane proteins. The protein encoded by this gene interacts with alpha-actinin-2 through its N-terminal PDZ domain and with protein kinase C via its C-terminal LIM domains. The LIM domain is a cysteine-rich motif defined by 50-60 amino acids containing two zinc-binding modules. This protein also interacts with all three members of the myozenin family. Mutations in this gene have been associated with myofibrillar myopathy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been identified; all isoforms have N-terminal PDZ domains while only longer isoforms (1, 2 and 5) have C-terminal LIM domains. [provided by RefSeq, Jan 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001073583", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073583" } ] } ], "disease": [ { "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": "609452", "database": "MIM", "url": "https://www.omim.org/entry/609452" } ] }, { "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": "601493", "database": "MIM", "url": "https://www.omim.org/entry/601493" } ] } ], "snv": [ { "evidence": [ { "id": "O75112", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75112" } ], "glycoeffect": [], "start_pos": 673, "end_pos": 673, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "10", "chr_pos": "86726175", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D673", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75112" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"https://www.uniprot.org/uniprot/O75112", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75112-1", "url": "https://www.uniprot.org/uniprot/O75112-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75112-2", "url": "https://www.uniprot.org/uniprot/O75112-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75112-3", "url": "https://www.uniprot.org/uniprot/O75112-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75112-4", "url": "https://www.uniprot.org/uniprot/O75112-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75112-5", "url": "https://www.uniprot.org/uniprot/O75112-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75112-6", "url": "https://www.uniprot.org/uniprot/O75112-6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75112-7", "url": "https://www.uniprot.org/uniprot/O75112-7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "V5T7C5", "url": "https://www.uniprot.org/uniprot/V5T7C5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "V5T7C5-1", "url": "https://www.uniprot.org/uniprot/V5T7C5-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSYSVTLTGPGPWGFRLQGGKDFNMPLTISRITPGSKAAQSQLSQGDLVVAIDGVNTDTMTHLEAQNKIKSASYNLSLTLQKSKRPIPISTTAPPVQTPLPVIPHQKDPALDTNGSLVAPSPSPEARASPGTPGTPELRPTFSPAFSRPSAFSSLAEASDPGPPRASLRAKTSPEGARDLLGPKALPGSSQPRQYNNPIGLYSAETLREMAQMYQMSLRGKASGVGLPGGSLPIKDLAVDSASPVYQAVIKSQNKPEDEADEWARRSSNLQSRSFRILAQMTGTEFMQDPDEEALRRSSTPIEHAPVCTSQATTPLLPASAQPPAAASPSAASPPLATAAAHTAIASASTTAPASSPADSPRPQASSYSPAVAASSAPATHTSYSEGPAAPAPKPRVVTTASIRPSVYQPVPASTYSPSPGANYSPTPYTPSPAPAYTPSPAPAYTPSPVPTYTPSPAPAYTPSPAPNYNPAPSVAYSGGPAEPASRPPWVTDDSFSQKFAPGKSTTSISKQTLPRGGPAYTPAGPQVPPLARGTVQRAERFPASSRTPLCGHCNNVIRGPFLVAMGRSWHPEEFTCAYCKTSLADVCFVEEQNNVYCERCYEQFFAPLCAKCNTKIMGEVMHALRQTWHTTCFVCAACKKPFGNSLFHMEDGEPYCEKDYINLFSTKCHGCDFPVEAGDKFIEALGHTWHDTCFICAVCHVNLEGQPFYSKKDRPLCKKHAHTINL", "length": 727, "header": "sp|O75112-1|LDB3_HUMAN Isoform 1 of LIM domain-binding protein 3 OS=Homo sapiens OX=9606 GN=LDB3 PE=1 SV=2 CANONICAL=O75112-1" }, "isoforms": [ { "isoform_ac": "A0A096LPD7-1", "url": "", "sequence": { "sequence": "VMHALRQTWHTTCFVCAACKKPFGNSLFHMEDGEPYCEKDYINLFSTKCHGCDFPVEAGDKFIEALGHTWHDTCFICAVCL", "length": 81, "header": "tr|A0A096LPD7-1|A0A096LPD7_HUMAN Computationally mapped isoform of LIM domain binding 3 OS=Homo sapiens OX=9606 GN=LDB3 PE=1 SV=1 CANONICAL=O75112-1" }, "locus": { "chromosome": "10", "start_pos": 86726261, "end_pos": 86718730, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000477489.1", "url": "https://www.ensembl.org/id/ENST00000477489.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000485538.1", "url": "https://www.ensembl.org/id/ENSP00000485538.1" } ] } }, { "isoform_ac": "A0A0C4DGG7-1", "url": "", "sequence": { "sequence": "MSYSVTLTGPGPWGFRLQGGKDFNMPLTISRITPGSKAAQSQLSQGDLVVAIDGVNTDTMTHLEAQNKIKSASYNLSLTLQKSKRPIPISTTAPPVQTPLPVIPHQKDPALDTNGSLVAPSPSPEARASPGTPGTPELRPTFSPAFSRPSAFSSLAEASDPGPPRASLRAKTSPEGARDLLGPKALPGSSQPRQYNNPIGLYSAETLREMAQMYQMSLRGKASGVGLPGGW", "length": 231, "header": "tr|A0A0C4DGG7-1|A0A0C4DGG7_HUMAN Computationally mapped isoform of LIM domain binding 3 OS=Homo sapiens OX=9606 GN=LDB3 PE=1 SV=1 CANONICAL=O75112-1" }, "locus": { "chromosome": "10", "start_pos": 86685681, "end_pos": 86668692, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000542786.2", "url": "https://www.ensembl.org/id/ENST00000542786.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000438866.1", "url": "https://www.ensembl.org/id/ENSP00000438866.1" } ] } }, { "isoform_ac": "A0A0S2Z521-1", "url": "", "sequence": { "sequence": "MSYSVTLTGPGPWGFRLQGGKDFNMPLTISRITPGSKAAQSQLSQGDLVVAIDGVNTDTMTHLEAQNKIKSASYNLSLTLQKSKRPIPISTTAPPVQTPLPVIPHQKEPPY", "length": 111, "header": "tr|A0A0S2Z521-1|A0A0S2Z521_HUMAN Computationally mapped isoform of LIM domain binding 3 OS=Homo sapiens OX=9606 GN=LDB3 PE=1 SV=1 CANONICAL=O75112-1" }, "locus": { "chromosome": "10", "start_pos": 86691907, "end_pos": 86668692, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000687856.1", "url": "https://www.ensembl.org/id/ENST00000687856.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510221.1", "url": "https://www.ensembl.org/id/ENSP00000510221.1" } ] } }, { "isoform_ac": "A0A8I5KV04-1", "url": "", "sequence": { "sequence": "MSYSVTLTGPGPWGFRLQGGKDFNMPLTISRITPGSKAAQSQLSQGDLVVAIDGVNTDTMTHLEAQNKIKSASYNLSLTLQKSKRPIPISTTAPPVQTPLPVIPHQKVVVNSPANADYQERFNPSALKDSALSTHKPIEVKGLGGKATIIHAQYNTPISMYSQDAIMDAIAGQAQAQGSDFSGSLPIKDLAVDSASPVYQAVIKSQNKPEDEADEWARRSSNLQSRSFRILAQMTGTEFMQDPDEEALRRSSTPIEHAPVCTSQATTPLLPASAQPPAAASPSAASPPLATAAAHTAIASASTTAPASSPADSPRPQASSYSPAVAASSAPATHTSYSEGPAAPAPKPRVVTTASIRPSVYQPVPASTYSPSPGANYSPTPYTPSPAPAYTPSPAPAYTPSPVPTYTPSPAPAYTPSPAPNYNPAPSVAYSGGPAEPASRPPWVTDDSFSQKFAPGKSTTSISKQTLPRGGPAYTPAGPQVPPLARGTVQRAERFPASSRTPLCGHCNNVIRGPFLVAMGRSWHPEEFTCAYCKTSLADVCFVEEQNNVYCERCYEQFFAPLCAKCNTKIMGEVMHALRQTWHTTCFVCAACKKPFGNSLFHMEDGEPYCEKDYINLFSTKCHGCDFPVEAGDKFIEALGHTWHDTCFICAVCHVNLEGQPFYSKKDRPLCKKHAHTINL", "length": 680, "header": "tr|A0A8I5KV04-1|A0A8I5KV04_HUMAN Computationally mapped isoform of LIM domain binding 3 OS=Homo sapiens OX=9606 GN=LDB3 PE=1 SV=1 CANONICAL=O75112-1" }, "locus": { "chromosome": "10", "start_pos": 86732973, "end_pos": 86668692, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000689740.1", "url": "https://www.ensembl.org/id/ENST00000689740.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510300.1", "url": "https://www.ensembl.org/id/ENSP00000510300.1" } ] } }, { "isoform_ac": "A0A8I5KX76-1", "url": "", "sequence": { "sequence": "MSYSVTLTGPGPWGFRLQGGKDFNMPLTISRITPGSKAAQSQLSQGDLVVAIDGVNTDTMTHLEAQNKIKSASYNLSLTLQKSKRPIPISTTAPPVQTPLPVIPHQKDPALDTNGSLVAPSPSPEARASPGTPGTPELRPTFSPAFSRPSAFSSLAEASDPGPPRASLRAKTSPEGARDLLGPKALPGSSQPRQYNNPIGLYSAETLREMAQMYQMSLRGKASGVGLPGGSLPIKDLAVDSASPVYQAVIKSQNKPEDEADEWARRSSNLQSRSFRILAQMTGTEFMQDPDEEALRRSRSGM", "length": 302, "header": "tr|A0A8I5KX76-1|A0A8I5KX76_HUMAN Computationally mapped isoform of LIM domain binding 3 OS=Homo sapiens OX=9606 GN=LDB3 PE=1 SV=1 CANONICAL=O75112-1" }, "locus": { "chromosome": "10", "start_pos": 86699447, "end_pos": 86668692, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000688678.1", "url": "https://www.ensembl.org/id/ENST00000688678.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510048.1", "url": "https://www.ensembl.org/id/ENSP00000510048.1" } ] } }, { "isoform_ac": "A0A8I5QJN0-1", "url": "", "sequence": { "sequence": "MSYSVTLTGPGPWGFRLQGGKDFNMPLTISRITPGSKAAQSQLSQGDLVVAIDGVNTDTMTHLEAQNKIKSASYNLSLTLQKSKRPIPISTTAPPVQTPLPVIPHQKVVVNSPAKSLPIKDLAVDSASPVYQAVIKSQNKPEDEADEWARRSSNLQSRSFRILAQMTGTEFMQDPDEEALRRSRERFETERNSPRFAKLRNWHHGLSAQILNVKS", "length": 215, "header": "tr|A0A8I5QJN0-1|A0A8I5QJN0_HUMAN Computationally mapped isoform of LIM domain binding 3 OS=Homo sapiens OX=9606 GN=LDB3 PE=1 SV=1 CANONICAL=O75112-1" }, "locus": { "chromosome": "10", "start_pos": 86699371, "end_pos": 86668692, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000688785.1", "url": "https://www.ensembl.org/id/ENST00000688785.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509572.1", "url": "https://www.ensembl.org/id/ENSP00000509572.1" } ] } }, { "isoform_ac": "O75112-1", "url": "", "sequence": { "sequence": "MSYSVTLTGPGPWGFRLQGGKDFNMPLTISRITPGSKAAQSQLSQGDLVVAIDGVNTDTMTHLEAQNKIKSASYNLSLTLQKSKRPIPISTTAPPVQTPLPVIPHQKDPALDTNGSLVAPSPSPEARASPGTPGTPELRPTFSPAFSRPSAFSSLAEASDPGPPRASLRAKTSPEGARDLLGPKALPGSSQPRQYNNPIGLYSAETLREMAQMYQMSLRGKASGVGLPGGSLPIKDLAVDSASPVYQAVIKSQNKPEDEADEWARRSSNLQSRSFRILAQMTGTEFMQDPDEEALRRSSTPIEHAPVCTSQATTPLLPASAQPPAAASPSAASPPLATAAAHTAIASASTTAPASSPADSPRPQASSYSPAVAASSAPATHTSYSEGPAAPAPKPRVVTTASIRPSVYQPVPASTYSPSPGANYSPTPYTPSPAPAYTPSPAPAYTPSPVPTYTPSPAPAYTPSPAPNYNPAPSVAYSGGPAEPASRPPWVTDDSFSQKFAPGKSTTSISKQTLPRGGPAYTPAGPQVPPLARGTVQRAERFPASSRTPLCGHCNNVIRGPFLVAMGRSWHPEEFTCAYCKTSLADVCFVEEQNNVYCERCYEQFFAPLCAKCNTKIMGEVMHALRQTWHTTCFVCAACKKPFGNSLFHMEDGEPYCEKDYINLFSTKCHGCDFPVEAGDKFIEALGHTWHDTCFICAVCHVNLEGQPFYSKKDRPLCKKHAHTINL", "length": 727, "header": "sp|O75112-1|LDB3_HUMAN Isoform 1 of LIM domain-binding protein 3 OS=Homo sapiens OX=9606 GN=LDB3 PE=1 SV=2 CANONICAL=O75112-1" }, "locus": { "chromosome": "10", "start_pos": 86732973, "end_pos": 86668692, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000361373.9", "url": "https://www.ensembl.org/id/ENST00000361373.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000355296.3", "url": "https://www.ensembl.org/id/ENSP00000355296.3" } ] } }, { "isoform_ac": "O75112-2", "url": "", "sequence": { "sequence": "MSYSVTLTGPGPWGFRLQGGKDFNMPLTISRITPGSKAAQSQLSQGDLVVAIDGVNTDTMTHLEAQNKIKSASYNLSLTLQKSKRPIPISTTAPPVQTPLPVIPHQKVVVNSPANADYQERFNPSALKDSALSTHKPIEVKGLGGKATIIHAQYNTPISMYSQDAIMDAIAGQAQAQGSDFSGSLPIKDLAVDSASPVYQAVIKSQNKPEDEADEWARRSSNLQSRSFRILAQMTGTEFMQDPDEEALRRSRPQASSYSPAVAASSAPATHTSYSEGPAAPAPKPRVVTTASIRPSVYQPVPASTYSPSPGANYSPTPYTPSPAPAYTPSPAPAYTPSPVPTYTPSPAPAYTPSPAPNYNPAPSVAYSGGPAEPASRPPWVTDDSFSQKFAPGKSTTSISKQTLPRGGPAYTPAGPQVPPLARGTVQRAERFPASSRTPLCGHCNNVIRGPFLVAMGRSWHPEEFTCAYCKTSLADVCFVEEQNNVYCERCYEQFFAPLCAKCNTKIMGEVMHALRQTWHTTCFVCAACKKPFGNSLFHMEDGEPYCEKDYINLFSTKCHGCDFPVEAGDKFIEALGHTWHDTCFICAVCHVNLEGQPFYSKKDRPLCKKHAHTINL", "length": 617, "header": "sp|O75112-2|LDB3_HUMAN Isoform 2 of LIM domain-binding protein 3 OS=Homo sapiens OX=9606 GN=LDB3 PE=1 SV=2 CANONICAL=O75112-1" }, "locus": { "chromosome": "10", "start_pos": 86732973, "end_pos": 86668692, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000429277.7", "url": "https://www.ensembl.org/id/ENST00000429277.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000401437.3", "url": "https://www.ensembl.org/id/ENSP00000401437.3" } ] } }, { "isoform_ac": "O75112-3", "url": "", "sequence": { "sequence": "MSYSVTLTGPGPWGFRLQGGKDFNMPLTISRITPGSKAAQSQLSQGDLVVAIDGVNTDTMTHLEAQNKIKSASYNLSLTLQKSKRPIPISTTAPPVQTPLPVIPHQKASSYSPAVAASSAPATHTSYSEGPAAPAPKPRVVTTASIRPSVYQPVPASTYSPSPGANYSPTPYTPSPAPAYTPSPAPAYTPSPVPTYTPSPAPAYTPSPAPNYNPAPSVAYSGGPAEPASRPPWVTDDSFSQKFAPGKSTTSISKQTLPRGGPAYTPAGPQVPPLARGTVQRAERFPASSRTPLCGHCNNVIRGPFLVAMGRSWHPEEFTCAYCKTSLADVCFVEEQNNVYCERCYEQFFAPLCAKCNTKIMGEVMHALRQTWHTTCFVCAACKKPFGNSLFHMEDGEPYCEKDYINLFSTKCHGCDFPVEAGDKFIEALGHTWHDTCFICAVCHVNLEGQPFYSKKDRPLCKKHAHTINL", "length": 470, "header": "sp|O75112-3|LDB3_HUMAN Isoform 3 of LIM domain-binding protein 3 OS=Homo sapiens OX=9606 GN=LDB3 PE=1 SV=2 CANONICAL=O75112-1" }, "locus": {} }, { "isoform_ac": "O75112-4", "url": "", "sequence": { "sequence": "MSYSVTLTGPGPWGFRLQGGKDFNMPLTISRITPGSKAAQSQLSQGDLVVAIDGVNTDTMTHLEAQNKIKSASYNLSLTLQKSKRPIPISTTAPPVQTPLPVIPHQKDPALDTNGSLVAPSPSPEARASPGTPGTPELRPTFSPAFSRPSAFSSLAEASDPGPPRASLRAKTSPEGARDLLGPKALPGSSQPRQYNNPIGLYSAETLREMAQMYQMSLRGKASGVGLPGGADYQERFNPSALKDSALSTHKPIEVKGLGGKATIIHAQYNTPISMYSQDAIMDAIAGQAQAQGSDFSGSLPIKDLAVDSASPVYQAVIKSQNKPEDEADEWARRSSNLQSRSFRILAQMTGTEFMQDPDEEALRRSRERFETERNSPRFAKLRNWHHGLSAQILNVKS", "length": 398, "header": "sp|O75112-4|LDB3_HUMAN Isoform 4 of LIM domain-binding protein 3 OS=Homo sapiens OX=9606 GN=LDB3 PE=1 SV=2 CANONICAL=O75112-1" }, "locus": { "chromosome": "10", "start_pos": 86699371, "end_pos": 86668692, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000372056.8", "url": "https://www.ensembl.org/id/ENST00000372056.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000361126.4", "url": "https://www.ensembl.org/id/ENSP00000361126.4" } ] } }, { "isoform_ac": "O75112-5", "url": "", "sequence": { "sequence": "MSYSVTLTGPGPWGFRLQGGKDFNMPLTISRITPGSKAAQSQLSQGDLVVAIDGVNTDTMTHLEAQNKIKSASYNLSLTLQKSKRPIPISTTAPPVQTPLPVIPHQKDPALDTNGSLVAPSPSPEARASPGTPGTPELRPTFSPAFSRPSAFSSLAEASDPGPPRASLRAKTSPEGARDLLGPKALPGSSQPRQYNNPIGLYSAETLREMAQMYQMSLRGKASGVGLPGGSLPIKDLAVDSASPVYQAVIKSQNKPEDEADEWARRSSNLQSRSFRILAQMTGTEFMQDPDEEALRRSRERFETERNSPRFAKLRNWHHGLSAQILNVKS", "length": 330, "header": "sp|O75112-5|LDB3_HUMAN Isoform 5 of LIM domain-binding protein 3 OS=Homo sapiens OX=9606 GN=LDB3 PE=1 SV=2 CANONICAL=O75112-1" }, "locus": { "chromosome": "10", "start_pos": 86699371, "end_pos": 86668692, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000623007.3", "url": "https://www.ensembl.org/id/ENST00000623007.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000485389.1", "url": "https://www.ensembl.org/id/ENSP00000485389.1" } ] } }, { "isoform_ac": "O75112-6", "url": "", "sequence": { "sequence": "MSYSVTLTGPGPWGFRLQGGKDFNMPLTISRITPGSKAAQSQLSQGDLVVAIDGVNTDTMTHLEAQNKIKSASYNLSLTLQKSKRPIPISTTAPPVQTPLPVIPHQKVVVNSPANADYQERFNPSALKDSALSTHKPIEVKGLGGKATIIHAQYNTPISMYSQDAIMDAIAGQAQAQGSDFSGSLPIKDLAVDSASPVYQAVIKSQNKPEDEADEWARRSSNLQSRSFRILAQMTGTEFMQDPDEEALRRSRERFETERNSPRFAKLRNWHHGLSAQILNVKS", "length": 283, "header": "sp|O75112-6|LDB3_HUMAN Isoform 6 of LIM domain-binding protein 3 OS=Homo sapiens OX=9606 GN=LDB3 PE=1 SV=2 CANONICAL=O75112-1" }, "locus": { "chromosome": "10", "start_pos": 86699371, "end_pos": 86668692, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000263066.11", "url": "https://www.ensembl.org/id/ENST00000263066.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000263066.7", "url": "https://www.ensembl.org/id/ENSP00000263066.7" } ] } }, { "isoform_ac": "O75112-7", "url": "", "sequence": { "sequence": "MSYSVTLTGPGPWGFRLQGGKDFNMPLTISRITPGSKAAQSQLSQGDLVVAIDGVNTDTMTHLEAQNKIKSASYNLSLTLQKSKRPIPISTTAPPVQTPLPVIPHQKDPALDTNGSLVAPSPSPEARASPGTPGTPELRPTFSPAFSRPSAFSSLAEASDPGPPRASLRAKTSPEGARDLLGPKALPGSSQPRQYNNPIGLYSAETLREMAQMYQMSLRGKASGVGLPGGADYQERFNPSALKDSALSTHKPIEVKGLGGKATIIHAQYNTPISMYSQDAIMDAIAGQAQAQGSDFSGSLPIKDLAVDSASPVYQAVIKSQNKPEDEADEWARRSSNLQSRSFRILAQMTGTEFMQDPDEEALRRSRPQASSYSPAVAASSAPATHTSYSEGPAAPAPKPRVVTTASIRPSVYQPVPASTYSPSPGANYSPTPYTPSPAPAYTPSPAPAYTPSPVPTYTPSPAPAYTPSPAPNYNPAPSVAYSGGPAEPASRPPWVTDDSFSQKFAPGKSTTSISKQTLPRGGPAYTPAGPQVPPLARGTVQRAERFPASSRTPLCGHCNNVIRGPFLVAMGRSWHPEEFTCAYCKTSLADVCFVEEQNNVYCERCYEQFFAPLCAKCNTKIMGEVMHALRQTWHTTCFVCAACKKPFGNSLFHMEDGEPYCEKDYINLFSTKCHGCDFPVEAGDKFIEALGHTWHDTCFICAVCHVNLEGQPFYSKKDRPLCKKHAHTINL", "length": 732, "header": "sp|O75112-7|LDB3_HUMAN Isoform 7 of LIM domain-binding protein 3 OS=Homo sapiens OX=9606 GN=LDB3 PE=1 SV=2 CANONICAL=O75112-1" }, "locus": { "chromosome": "10", "start_pos": 86732973, "end_pos": 86668692, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000623056.4", "url": "https://www.ensembl.org/id/ENST00000623056.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000485500.1", "url": "https://www.ensembl.org/id/ENSP00000485500.1" } ] } }, { "isoform_ac": "V5T7C5-1", "url": "", "sequence": { "sequence": "MSYSVTLTGPGPWGFRLQGGKDFNMPLTISRITPGSKAAQSQLSQGDLVVAIDGVNTDTMTHLEAQNKIKSASYNLSLTLQKSKRPIPISTTAPPVQTPLPVIPHQKDPALDTNGSLVAPSPSPEARASPGTPGTPELRPTFSPAFSRPSAFSSLAEASDPGPPRASLRAKTSPEGARDLLGPKALPGSSQPRQYNNPIGLYSAETLREMAQMYQMSLRGKASGVGLPGGSLPIKDLAVDSASPVYQAVIKSQNKPEDEADEWARRSSNLQSRSFRILAQMTGTEFMQDPDEEALRRSRPQASSYSPAVAASSAPATHTSYSEGPAAPAPKPRVVTTASIRPSVYQPVPASTYSPSPGANYSPTPYTPSPAPAYTPSPAPAYTPSPVPTYTPSPAPAYTPSPAPNYNPAPSVAYSGGPAEPASRPPWVTDDSFSQKFAPGKSTTSISKQTLPRGGPAYTPAGPQVPPLARGTVQRAERFPASSRTPLCGHCNNVIRGPFLVAMGRSWHPEEFTCAYCKTSLADVCFVEEQNNVYCERCYEQFFAPLCAKCNTKIMGEVMHALRQTWHTTCFVCAACKKPFGNSLFHMEDGEPYCEKDYINLFSTKCHGCDFPVEAGDKFIEALGHTWHDTCFICAVCHVNLEGQPFYSKKDRPLCKKHAHTINL", "length": 664, "header": "tr|V5T7C5-1|V5T7C5_HUMAN Computationally mapped isoform of LIM domain binding 3 OS=Homo sapiens OX=9606 GN=LDB3 PE=1 SV=1 CANONICAL=O75112-1" }, "locus": { "chromosome": "10", "start_pos": 86732973, "end_pos": 86668692, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000688001.1", "url": "https://www.ensembl.org/id/ENST00000688001.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508987.1", "url": "https://www.ensembl.org/id/ENSP00000508987.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O75112", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75112" }, { "id": "23271734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23271734" } ] } ], "phosphorylation": [ { "start_pos": 121, "end_pos": 121, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75112", "url": "https://www.uniprot.org/uniprot/O75112" } ], "site_lbl": "Ser121" }, { "start_pos": 123, "end_pos": 123, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75112", "url": "https://www.uniprot.org/uniprot/O75112" } ], "site_lbl": "Ser123" }, { "start_pos": 217, "end_pos": 217, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75112", "url": "https://www.uniprot.org/uniprot/O75112" } ], "site_lbl": "Ser217" }, { "start_pos": 223, "end_pos": 223, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75112", "url": "https://www.uniprot.org/uniprot/O75112" } ], "site_lbl": "Ser223" }, { "start_pos": 44, "end_pos": 44, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75112", "url": "https://www.uniprot.org/uniprot/O75112" } ], "site_lbl": "Ser44" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "ZASP: a new Z-band alternatively spliced PDZ-motif protein.", "journal": "J. Cell Biol.", "date": "1999", "authors": "Faulkner G, Pallavicini A, Formentin E, Comelli A, Ievolella C, Trevisan S, Bortoletto G, Scannapieco P, Salamon M, Mouly V, Valle G, Lanfranchi G", "evidence": [ { "database": "UniProtKB", "id": "O75112", "url": "https://www.uniprot.org/uniprot/O75112" } ], "reference": [ { "type": "PubMed", "id": "10427098", "url": "https://glygen.org/publication/PubMed/10427098" } ] }, { "title": "Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins.", "journal": "J. Biol. Chem.", "date": "2002", "authors": "Frey N, Olson EN", "evidence": [ { "database": "UniProtKB", "id": "O75112", "url": "https://www.uniprot.org/uniprot/O75112" } ], "reference": [ { "type": "PubMed", "id": "11842093", "url": "https://glygen.org/publication/PubMed/11842093" } ] }, { "title": "A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Arimura T, Hayashi T, Terada H, Lee SY, Zhou Q, Takahashi M, Ueda K, Nouchi T, Hohda S, Shibutani M, Hirose M, Chen J, Park JE, Yasunami M, Hayashi H, Kimura A", "evidence": [ { "database": "UniProtKB", "id": "O75112", "url": "https://www.uniprot.org/uniprot/O75112" } ], "reference": [ { "type": "PubMed", "id": "14660611", "url": "https://glygen.org/publication/PubMed/14660611" } ] }, { "title": "Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction.", "journal": "Journal of the American College of Cardiology", "date": "2003", "authors": "Vatta M, Mohapatra B, Jimenez S, Sanchez X, Faulkner G, Perles Z, Sinagra G, Lin JH, Vu TM, Zhou Q, Bowles KR, Di Lenarda A, Schimmenti L, Fox M, Chrisco MA, Murphy RT, McKenna W, Elliott P, Bowles NE, Chen J, Valle G, Towbin JA", "evidence": [ { "database": "UniProtKB", "id": "O75112", "url": "https://www.uniprot.org/uniprot/O75112" } ], "reference": [ { "type": "PubMed", "id": "14662268", "url": "https://glygen.org/publication/PubMed/14662268" } ] }, { "title": "Solution structure of ZASP PDZ domain; implications for sarcomere ultrastructure and enigma family redundancy.", "journal": "Structure", "date": "2004", "authors": "Au Yunghan, Atkinson R Andrew, Guerrini Remo, Kelly Geoff, Joseph Catherine, Martin Steven R, Muskett Frederick W, Pallavicini Alberto, Faulkner Georgine, Pastore Annalisa", "evidence": [ { "database": "UniProtKB", "id": "O75112", "url": "https://www.uniprot.org/uniprot/O75112" } ], "reference": [ { "type": "PubMed", "id": "15062084", "url": "https://glygen.org/publication/PubMed/15062084" } ] }, { "title": "Mutations in ZASP define a novel form of muscular dystrophy in humans.", "journal": "Ann. Neurol.", "date": "2005", "authors": "Selcen Duygu, Engel Andrew G", "evidence": [ { "database": "UniProtKB", "id": "O75112", "url": "https://www.uniprot.org/uniprot/O75112" } ], "reference": [ { "type": "PubMed", "id": "15668942", "url": "https://glygen.org/publication/PubMed/15668942" } ] }, { "title": "Z-band alternatively spliced PDZ motif protein (ZASP) is the major O-linked beta-N-acetylglucosamine-substituted protein in human heart myofibrils.", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "Leung MC, Hitchen PG, Ward DG, Messer AE, Marston SB", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75112", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75112" } ], "reference": [ { "type": "PubMed", "id": "23271734", "url": "https://glygen.org/publication/PubMed/23271734" } ] }, { "title": "Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.", "journal": "Cell", "date": "2016", "authors": "Yang Xinping, Coulombe-Huntington Jasmin, Kang Shuli, Sheynkman Gloria M, Hao Tong, Richardson Aaron, Sun Song, Yang Fan, Shen Yun A, Murray Ryan R, Spirohn Kerstin, Begg Bridget E, Duran-Frigola Miquel, MacWilliams Andrew, Pevzner Samuel J, Zhong Quan, Trigg Shelly A, Tam Stanley, Ghamsari Lila, Sahni Nidhi, Yi Song, Rodriguez Maria D, Balcha Dawit, Tan Guihong, Costanzo Michael, Andrews Brenda, Boone Charles, Zhou Xianghong J, Salehi-Ashtiani Kourosh, Charloteaux Benoit, Chen Alyce A, Calderwood Michael A, Aloy Patrick, Roth Frederick P, Hill David E, Iakoucheva Lilia M, Xia Yu, Vidal Marc", "evidence": [ { "database": "UniProtKB", "id": "A0A0S2Z521", "url": "https://www.uniprot.org/uniprot/A0A0S2Z521" } ], "reference": [ { "type": "PubMed", "id": "26871637", "url": "https://glygen.org/publication/PubMed/26871637" } ] }, { "title": "Alterations of protein expression of phospholamban, ZASP and plakoglobin in human atria in subgroups of seniors.", "journal": "Scientific reports", "date": "2019", "authors": "Gergs U, Mangold W, Langguth F, Hatzfeld M, Hauptmann S, Bushnaq H, Simm A, Silber RE, Neumann J", "evidence": [ { "database": "RefSeq", "id": "NP_001073583", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073583" } ], "reference": [ { "type": "PubMed", "id": "30948763", "url": "https://glygen.org/publication/PubMed/30948763" } ] }, { "title": "Impact of LDB3 gene polymorphisms on clinical presentation and implantable cardioverter defibrillator (ICD) implantation in Chinese patients with idiopathic dilated cardiomyopathy.", "journal": "Journal of Zhejiang University. Science. B", "date": "2019", "authors": "Wang DF, Lyu JL, Fang J, Chen J, Chen WW, Huang JQ, Xia SD, Jin JM, Dong FH, Cheng HQ, Xu YK, Guo XG", "evidence": [ { "database": "RefSeq", "id": "NP_001073583", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073583" } ], "reference": [ { "type": "PubMed", "id": "31379146", "url": "https://glygen.org/publication/PubMed/31379146" } ] }, { "title": "Protein aggregates and autophagy involvement in a family with a mutation in Z-band alternatively spliced PDZ-motif protein.", "journal": "Neuromuscular disorders : NMD", "date": "2021", "authors": "Cassandrini D, Merlini L, Pilla F, Cenni V, Santi S, Faldini C, Santorelli FM, Sabatelli P", "evidence": [ { "database": "RefSeq", "id": "NP_001073583", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073583" } ], "reference": [ { "type": "PubMed", "id": "33308939", "url": "https://glygen.org/publication/PubMed/33308939" } ] }, { "title": "Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy.", "journal": "European journal of human genetics : EJHG", "date": "2022-10-17", "authors": "Koopmann Tamara T, Jamshidi Yalda, Naghibi-Sistani Mohammad, van der Klift Heleen M, Birjandi Hassan, Al-Hassnan Zuhair, Alwadai Abdullah, Zifarelli Giovanni, Karimiani Ehsan G, Sedighzadeh Sahar, Bahreini Amir, Nouri Nayereh, Peter Merlene, Watanabe Kyoko, van Duyvenvoorde Hermine A, Ruivenkamp Claudia A L, Teunissen Aalbertine K K, Ten Harkel Arend D J, van Duinen Sjoerd G, Haak Monique C, Prada Carlos E, Santen Gijs W E, Maroofian Reza", "evidence": [ { "database": "RefSeq", "id": "NP_001073583", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073583" } ], "reference": [ { "type": "PubMed", "id": "36253531", "url": "https://glygen.org/publication/PubMed/36253531" } ] } ], "pathway": [ { "id": "hsa:11155", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:11155", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A096MJ01-1", "protein_name": "LIM domain binding 3", "gene_name": "Ldb3", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MGAARADISVDSILSQLFLGALHSLTRQQGTQQARPEEATAVGTSMSYSVTLTGPGPWGFRLQGGKDFNMPLTISRITPGSKAAQSQLSQGDLVVAIDGVNTDTMTHLEAQNKIKSASYNLSLTLQKSKRPIPISTTAPPIQSPLPVIPHQKDPSLDTNSSLATPSPSPEARASPGTSGTLEFGDTFSSSFSQTSVCTSHMEASGPVLPLGSPVAKASSEGTQGSVSPKVLPGPSQPRLYNNPIGLYSAETLREMAQMYQMSLRGKASGAGLLGGSLPVKDLAVDSASPVYQAVIKTQSKPEDEADEWARRSSNLQSRSFRILAQMTGTEYMQDPDEEALRRSSTPIEHAPVCTSQATSPLLPASAPSPAAASPIAASPTLATAAAAHAVAASAAGPASSPVENPRPQASAYSPAAATSPAPAAHTSYSEGPAAPAPKPRVVTTASIRPSVYQPVPASPYSPSPGANYSPTPYTPSPAPAYTPSPAPTYTPSPAPTYSPSPAPAYTPSPAPNYNPTPSAAYSGGPSESASRPPWVTDDSFSQKFAPGKSTTSVSKQTLPRGAPAYNPTGPQVTPLARGTFQRAERFPASSRTPLCGHCNNVIRGPFLVAMGRSWHPEEFNCAYCKTSLADVCFVEEQNNVYCERCYEQFFAPICAKCNTKIMGEVMHALRQTWHTTCFICAACKKPFGNSLFHMEDGEPYCEKDYINLFSTKCHGCDFPVEAGDKFIEALGHTWHDTCFICAVCHVNLEGQPFYSKKDKPLCKKHAHAINV", "length": 771 }, "evidence": [ { "id": "45920930", "url": 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"categories": [ { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O75112", "url": "https://www.uniprot.org/uniprot/O75112" } ], "pmid": "" }, { "name": "muscle alpha-actinin binding", "id": "GO:0051371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051371", "evidence": [ { "database": "UniProtKB", "id": "O75112", "url": "https://www.uniprot.org/uniprot/O75112" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "O75112", "url": "https://www.uniprot.org/uniprot/O75112" } ], "pmid": "" }, { "name": "protein kinase C binding", "id": "GO:0005080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005080", "evidence": [ { "database": "UniProtKB", "id": "O75112", "url": "https://www.uniprot.org/uniprot/O75112" } ], "pmid": "" }, { "name": "cytoskeletal protein binding", "id": "GO:0008092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008092", "evidence": [ { "database": "UniProtKB", "id": "O75112", "url": "https://www.uniprot.org/uniprot/O75112" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "O75112", "url": "https://www.uniprot.org/uniprot/O75112" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "O75112", "url": "https://www.uniprot.org/uniprot/O75112" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "O75112", "url": "https://www.uniprot.org/uniprot/O75112" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "O75112", "url": "https://www.uniprot.org/uniprot/O75112" } ], "pmid": "" }, { "name": "stress fiber", "id": "GO:0001725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001725", "evidence": [ { "database": "UniProtKB", "id": "O75112", "url": "https://www.uniprot.org/uniprot/O75112" } ], "pmid": "" }, { "name": "pseudopodium", "id": "GO:0031143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031143", "evidence": [ { "database": "UniProtKB", "id": "O75112", "url": "https://www.uniprot.org/uniprot/O75112" } ], "pmid": "" }, { "name": "filamentous actin", "id": "GO:0031941", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031941", "evidence": [ { "database": "UniProtKB", "id": "O75112", "url": "https://www.uniprot.org/uniprot/O75112" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "O75112", "url": "https://www.uniprot.org/uniprot/O75112" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "O75112", "url": "https://www.uniprot.org/uniprot/O75112" } ], "pmid": "" }, { "name": "sarcomere organization", "id": "GO:0045214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045214", "evidence": [ { "database": "UniProtKB", "id": "O75112", "url": "https://www.uniprot.org/uniprot/O75112" } ], "pmid": "" }, { "name": "muscle structure development", "id": "GO:0061061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061061", "evidence": [ { "database": "UniProtKB", "id": "O75112", "url": "https://www.uniprot.org/uniprot/O75112" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { 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