{ "uniprot_canonical_ac": "P12829-1", "uniprot_ac": "P12829", "uniprot_id": "MYL4_HUMAN", "mass": { "chemical_mass": 21565.0, "monoisotopic_mass": 21565.0 }, "refseq": { "ac": "NP_001002841", "name": "myosin light chain 4", "summary": "Myosin is a hexameric ATPase cellular motor protein. It is composed of two myosin heavy chains, two nonphosphorylatable myosin alkali light chains, and two phosphorylatable myosin regulatory light chains. This gene encodes a myosin alkali light chain that is found in embryonic muscle and adult atria. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002841" }, "gene_names": [ { "name": "MYL4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P12829", "id": "P12829" }, { "name": "ALC1; AMLC; GT1; PRO1957", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002841", "id": "NP_001002841" }, { "name": "MLC1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P12829", "id": "P12829" }, { "name": "MYL4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002841", "id": "NP_001002841" }, { "name": "PRO1957", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P12829", "id": "P12829" } ], "protein_names": [ { "name": "Myosin light chain 4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P12829" }, { "name": "Myosin light chain 1, embryonic muscle/atrial isoform", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12829" }, { "name": "Myosin light chain alkali GT-1 isoform", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12829" }, { "name": "myosin light chain 4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002841", "id": "NP_001002841" }, { "name": "myosin, light polypeptide 4, alkali; atrial, embryonic; myosin, atrial/fetal muscle, light chain; myosin, light chain 4, alkali; atrial, embryonic; atrial myosin light chain 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002841", "id": "NP_001002841" } ], "function": [ { "annotation": "A novel, heterozygous p.Glu11Lys mutation in the atrial-specific myosin light chain gene MYL4, caused atrial fibrillation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001002841", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002841" }, { "database": "PubMed", "id": "27066836", "url": "https://glygen.org/publication/PubMed/27066836" } ] }, { "annotation": "A recessive frameshift mutation in MYL4 causes early-onset atrial fibrillation.", "evidence": [ { "database": "RefSeq", "id": "NP_001002841", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002841" }, { "database": "PubMed", "id": "25807286", "url": "https://glygen.org/publication/PubMed/25807286" } ] }, { "annotation": "Metastable Atrial State Underlies the Primary Genetic Substrate for MYL4 Mutation-Associated Atrial Fibrillation.", "evidence": [ { "database": "RefSeq", "id": "NP_001002841", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002841" }, { "database": "PubMed", "id": "31735076", "url": "https://glygen.org/publication/PubMed/31735076" } ] }, { "annotation": "Myosin is a hexameric ATPase cellular motor protein. It is composed of two myosin heavy chains, two nonphosphorylatable myosin alkali light chains, and two phosphorylatable myosin regulatory light chains. This gene encodes a myosin alkali light chain that is found in embryonic muscle and adult atria. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001002841", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002841" } ] }, { "annotation": "Regulatory light chain of myosin. Does not bind calcium.", "evidence": [ { "database": "UniProtKB", "id": "P12829", "url": "https://www.uniprot.org/uniprot/P12829#function" } ] }, { "annotation": "Relationship between Serum miR-106 and MYL4 Levels and the Prevalence, Risk Stratification, and Prognosis of Atrial Fibrillation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001002841", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002841" }, { "database": "PubMed", "id": "35874900", "url": "https://glygen.org/publication/PubMed/35874900" } ] }, { "annotation": "The authors describe in a population approach a loss of function mutation in the myosin gene MYL4 that, in the homozygous state, is completely penetrant for early-onset AF. The finding may provide novel mechanistic insight into the pathophysiology of this complex arrhythmia.", "evidence": [ { "database": "RefSeq", "id": "NP_001002841", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002841" }, { "database": "PubMed", "id": "27742809", "url": "https://glygen.org/publication/PubMed/27742809" } ] } ], "disease": [ { "disease_id": "MONDO:0015001", "recommended_name": { "id": "MONDO:0015001", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015001", "name": "atrial fibrillation, familial, 18", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the MYL4 gene." }, "synonyms": [ { "id": "MONDO:0015001", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015001", "name": "ATFB18", "description": "" }, { "id": "MONDO:0015001", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015001", "name": "MYL4 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0015001", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015001", "name": "atrial fibrillation, familial, 18", "description": "" }, { "id": "MONDO:0015001", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015001", "name": "atrial fibrillation, familial, 18; ATFB18", "description": "" }, { "id": "MONDO:0015001", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015001", "name": "atrial fibrillation, familial, type 18", "description": "" }, { "id": "MONDO:0015001", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015001", "name": "familial atrial fibrillation caused by mutation in MYL4", "description": "" }, { "id": "MIM:617280", "resource": "MIM", "url": "https://www.omim.org/entry/617280", "name": "Atrial fibrillation, familial, 18", "description": "Atrial fibrillation, familial, 18" } ], "evidence": [ { "id": "617280", "database": "MIM", "url": "https://www.omim.org/entry/617280" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "67.24", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198336", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198336" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "67.64", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198336", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198336" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "62.37", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198336", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198336" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198336", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198336" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "67.5", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198336", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198336" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "57.62", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198336", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198336" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "58.98", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198336", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198336" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "60.62", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198336", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198336" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "80.04", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198336", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198336" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "59.38", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198336", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198336" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "53.67", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198336", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198336" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "59.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198336", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198336" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "64.69", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198336", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198336" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P12829", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12829" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial 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"DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", 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"id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"https://www.ensembl.org/id/ENST00000576874.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000458907.1", "url": "https://www.ensembl.org/id/ENSP00000458907.1" } ] } }, { "isoform_ac": "I3L1R3-1", "url": "", "sequence": { "sequence": "MAPKKPEPKKEAAKPAPAPAPAPAPAPAPAPEAPKEPAFDPKSVKSSKRPFHCLTGPRLER", "length": 61, "header": "tr|I3L1R3-1|I3L1R3_HUMAN Computationally mapped isoform of Myosin light chain 4 OS=Homo sapiens OX=9606 GN=MYL4 PE=1 SV=1 CANONICAL=P12829-1" }, "locus": { "chromosome": "17", "start_pos": 47219951, "end_pos": 47209423, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000571981.5", "url": "https://www.ensembl.org/id/ENST00000571981.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000459035.1", "url": "https://www.ensembl.org/id/ENSP00000459035.1" } ] } }, { "isoform_ac": "I3L3U1-1", "url": "", "sequence": { "sequence": "MAPKKPEPKKEAAKPAPAPAPAPAPAPAPAPEAPKEPAFDPKSVKIDFTADQIEEFKEAFSLFDRTPTGEMKITYGQCGDVLRALGQNPTNAEVLRVLGKPKPEAHFPQQGAGHL", "length": 115, "header": "tr|I3L3U1-1|I3L3U1_HUMAN Computationally mapped isoform of Myosin light chain 4 OS=Homo sapiens OX=9606 GN=MYL4 PE=1 SV=1 CANONICAL=P12829-1" }, "locus": { "chromosome": "17", "start_pos": 47221763, "end_pos": 47209423, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000573747.6", "url": "https://www.ensembl.org/id/ENST00000573747.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000460734.1", "url": "https://www.ensembl.org/id/ENSP00000460734.1" } ] } }, { "isoform_ac": "I3L4B1-1", "url": "", "sequence": { "sequence": "XLGKPKPEEMNVKMLDFETFLPILQHISRNKEQGTYEDFVEGLRVFDKESNGTVMGAELRHVLATLGEKMTEAEVEQLLAGQEDANGCINYEAFVKHIMSG", "length": 101, "header": "tr|I3L4B1-1|I3L4B1_HUMAN Computationally mapped isoform of Myosin light chain 4 OS=Homo sapiens OX=9606 GN=MYL4 PE=1 SV=1 CANONICAL=P12829-1" }, "locus": { "chromosome": "17", "start_pos": 47223040, "end_pos": 47220030, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000570671.1", "url": "https://www.ensembl.org/id/ENST00000570671.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000461121.1", "url": "https://www.ensembl.org/id/ENSP00000461121.1" } ] } }, { "isoform_ac": "I3L532-1", "url": "", "sequence": { "sequence": "MAPKKPEPKKEAAKPAPAPAPAPAPAPAPAPEAPKEPAFDPKSVKIDFTADQIEGEYGQPHLSVSIALSWRRRRRRKKRRSSCPHEFKEAFSLFDRTPTGEMKITYGQCGDVLRALGQNPTNAEVLRVLGKPKPEEMNVKMLDFETFLPILQHISRNKEQGTYEDFVEGLRVF", "length": 173, "header": "tr|I3L532-1|I3L532_HUMAN Computationally mapped isoform of Myosin light chain 4 OS=Homo sapiens OX=9606 GN=MYL4 PE=1 SV=1 CANONICAL=P12829-1" }, "locus": { "chromosome": "17", "start_pos": 47221794, "end_pos": 47209423, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000572303.1", "url": "https://www.ensembl.org/id/ENST00000572303.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000461747.1", "url": "https://www.ensembl.org/id/ENSP00000461747.1" } ] } }, { "isoform_ac": "P12829-1", "url": "", "sequence": { "sequence": "MAPKKPEPKKEAAKPAPAPAPAPAPAPAPAPEAPKEPAFDPKSVKIDFTADQIEEFKEAFSLFDRTPTGEMKITYGQCGDVLRALGQNPTNAEVLRVLGKPKPEEMNVKMLDFETFLPILQHISRNKEQGTYEDFVEGLRVFDKESNGTVMGAELRHVLATLGEKMTEAEVEQLLAGQEDANGCINYEAFVKHIMSG", "length": 197, "header": "sp|P12829-1|MYL4_HUMAN Isoform 1 of Myosin light chain 4 OS=Homo sapiens OX=9606 GN=MYL4 PE=1 SV=3 CANONICAL=P12829-1" }, "locus": { "chromosome": "17", "start_pos": 47223039, "end_pos": 47209423, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000393450.5", "url": "https://www.ensembl.org/id/ENST00000393450.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000377096.1", "url": "https://www.ensembl.org/id/ENSP00000377096.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 196, "end_pos": 196, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P12829", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12829" }, { "database": "PubMed", "id": "11557734", "url": "https://glygen.org/publication/PubMed/11557734" } ], "site_lbl": "Ser196" }, { "start_pos": 66, "end_pos": 66, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P12829", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12829" }, { "database": "PubMed", "id": "11557734", "url": "https://glygen.org/publication/PubMed/11557734" }, { "database": "phospho.ELM", "id": "P12829", "url": "http://phospho.elm.eu.org/byAccession/P12829.html" } ], "site_lbl": "Thr66" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Regulation of contraction in striated muscle.", "journal": "Physiological reviews", "date": "2000", "authors": "Gordon AM, Homsher E, Regnier M", "evidence": [ { "database": "Reactome", "id": "R-HSA-390522", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390522" } ], "reference": [ { "type": "PubMed", "id": "10747208", "url": "https://glygen.org/publication/PubMed/10747208" } ] }, { "title": "Proteomic analysis of pharmacologically preconditioned cardiomyocytes reveals novel phosphorylation of myosin light chain 1.", "journal": "Circulation research", "date": "2001", "authors": "Arrell DK, Neverova I, Fraser H, Marban E, Van Eyk JE", "evidence": [ { "database": "iPTMnet", "id": "P12829", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12829" } ], "reference": [ { "type": "PubMed", "id": "11557734", "url": "https://glygen.org/publication/PubMed/11557734" } ] }, { "title": "The human embryonic myosin alkali light chain gene: use of alternative promoters and 3' non-coding regions.", "journal": "Nucleic Acids Res.", "date": "1991", "authors": "Rotter M, Zimmerman K, Poustka A, Soussi-Yanicostas N, Starzinski-Powitz A", "evidence": [ { "database": "UniProtKB", "id": "P12829", "url": "https://www.uniprot.org/uniprot/P12829" } ], "reference": [ { "type": "PubMed", "id": "2027757", "url": "https://glygen.org/publication/PubMed/2027757" } ] }, { "title": "Human embryonic/atrial myosin alkali light chain gene: characterization, sequence, and chromosomal location.", "journal": "Genomics", "date": "1990", "authors": "Seharaseyon J, Bober E, Hsieh C L, Fodor W L, Francke U, Arnold H H, Vanin E F", "evidence": [ { "database": "UniProtKB", "id": "P12829", "url": "https://www.uniprot.org/uniprot/P12829" } ], "reference": [ { "type": "PubMed", "id": "2129532", "url": "https://glygen.org/publication/PubMed/2129532" } ] }, { "title": "Heterogenic mRNAs with an identical protein-coding region of the human embryonic myosin alkali light chain in skeletal muscle cells.", "journal": "J. Mol. Biol.", "date": "1990", "authors": "Zimmermann K, Kautz S, Hajdu G, Winter C, Whalen RG, Starzinski-Powitz A", "evidence": [ { "database": "UniProtKB", "id": "P12829", "url": "https://www.uniprot.org/uniprot/P12829" } ], "reference": [ { "type": "PubMed", "id": "2308163", "url": "https://glygen.org/publication/PubMed/2308163" } ] }, { "title": "Alkali myosin light chains in man are encoded by a multigene family that includes the adult skeletal muscle, the embryonic or atrial, and nonsarcomeric isoforms.", "journal": "Gene", "date": "1988", "authors": "Seidel U, Bober E, Winter B, Lenz S, Lohse P, Goedde HW, Grzeschik KH, Arnold HH", "evidence": [ { "database": "UniProtKB", "id": "P12829", "url": "https://www.uniprot.org/uniprot/P12829" } ], "reference": [ { "type": "PubMed", "id": "2458299", "url": "https://glygen.org/publication/PubMed/2458299" } ] }, { "title": "Large-scale whole-genome sequencing of the Icelandic population.", "journal": "Nature genetics", "date": "2015", "authors": "Gudbjartsson DF, Helgason H, Gudjonsson SA, Zink F, Oddson A, Gylfason A, Besenbacher S, Magnusson G, Halldorsson BV, Hjartarson E, Sigurdsson GT, Stacey SN, Frigge ML, Holm H, Saemundsdottir J, Helgadottir HT, Johannsdottir H, Sigfusson G, Thorgeirsson G, Sverrisson JT, Gretarsdottir S, Walters GB, Rafnar T, Thjodleifsson B, Bjornsson ES, Olafsson S, Thorarinsdottir H, Steingrimsdottir T, Gudmundsdottir TS, Theodors A, Jonasson JG, Sigurdsson A, Bjornsdottir G, Jonsson JJ, Thorarensen O, Ludvigsson P, Gudbjartsson H, Eyjolfsson GI, Sigurdardottir O, Olafsson I, Arnar DO, Magnusson OT, Kong A, Masson G, Thorsteinsdottir U, Helgason A, Sulem P, Stefansson K", "evidence": [ { "database": "RefSeq", "id": "NP_001002841", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002841" } ], "reference": [ { "type": "PubMed", "id": "25807286", "url": "https://glygen.org/publication/PubMed/25807286" } ] }, { "title": "A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation.", "journal": "Nature communications", "date": "2016", "authors": "Orr N, Arnaout R, Gula LJ, Spears DA, Leong-Sit P, Li Q, Tarhuni W, Reischauer S, Chauhan VS, Borkovich M, Uppal S, Adler A, Coughlin SR, Stainier DYR, Gollob MH", "evidence": [ { "database": "UniProtKB", "id": "P12829", "url": "https://www.uniprot.org/uniprot/P12829" }, { "database": "RefSeq", "id": "NP_001002841", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002841" } ], "reference": [ { "type": "PubMed", "id": "27066836", "url": "https://glygen.org/publication/PubMed/27066836" } ] }, { "title": "A frameshift deletion in the sarcomere gene MYL4 causes early-onset familial atrial fibrillation.", "journal": "European heart journal", "date": "2017", "authors": "Gudbjartsson DF, Holm H, Sulem P, Masson G, Oddsson A, Magnusson OT, Saemundsdottir J, Helgadottir HT, Helgason H, Johannsdottir H, Gretarsdottir S, Gudjonsson SA, Njolstad I, Lochen ML, Baum L, Ma RC, Sigfusson G, Kong A, Thorgeirsson G, Sverrisson JT, Thorsteinsdottir U, Stefansson K, Arnar DO", "evidence": [ { "database": "RefSeq", "id": "NP_001002841", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002841" } ], "reference": [ { "type": "PubMed", "id": "27742809", "url": "https://glygen.org/publication/PubMed/27742809" } ] }, { "title": "A novel human myosin alkali light chain is developmentally regulated. Expression in fetal cardiac and skeletal muscle and in adult atria.", "journal": "Eur. J. Biochem.", "date": "1988", "authors": "Arnold H H, Lohse P, Seidel U, Bober E", "evidence": [ { "database": "UniProtKB", "id": "P12829", "url": "https://www.uniprot.org/uniprot/P12829" } ], "reference": [ { "type": "PubMed", "id": "2849544", "url": "https://glygen.org/publication/PubMed/2849544" } ] }, { "title": "Metastable Atrial State Underlies the Primary Genetic Substrate for MYL4 Mutation-Associated Atrial Fibrillation.", "journal": "Circulation", "date": "2020", "authors": "Ghazizadeh Z, Kiviniemi T, Olafsson S, Plotnick D, Beerens ME, Zhang K, Gillon L, Steinbaugh MJ, Barrera V, Sui SH, Werdich AA, Kapur S, Eranti A, Gunn J, Jalkanen J, Airaksinen J, Kleber AG, Hollmen M, MacRae CA", "evidence": [ { "database": "RefSeq", "id": "NP_001002841", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002841" } ], "reference": [ { "type": "PubMed", "id": "31735076", "url": "https://glygen.org/publication/PubMed/31735076" } ] }, { "title": "Molecular cloning and characterization of human atrial and ventricular myosin alkali light chain cDNA clones.", "journal": "J. 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Chem.", "date": "1988", "authors": "Kurabayashi M, Komuro I, Tsuchimochi H, Takaku F, Yazaki Y", "evidence": [ { "database": "UniProtKB", "id": "P12829", "url": "https://www.uniprot.org/uniprot/P12829" } ], "reference": [ { "type": "PubMed", "id": "3417683", "url": "https://glygen.org/publication/PubMed/3417683" } ] }, { "title": "Relationship between Serum miR-106 and MYL4 Levels and the Prevalence, Risk Stratification, and Prognosis of Atrial Fibrillation.", "journal": "Journal of immunology research", "date": "2022", "authors": "Liu Y, Zhou H, Tao Y, Xu Z, Lai H", "evidence": [ { "database": "RefSeq", "id": "NP_001002841", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002841" } ], "reference": [ { "type": "PubMed", "id": "35874900", "url": "https://glygen.org/publication/PubMed/35874900" } ] } ], "pathway": [ { "id": "R-HSA-390522", "name": "Striated Muscle Contraction", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390522", "resource": "Reactome", "description": 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