{ "uniprot_canonical_ac": "P05976-1", "uniprot_ac": "P05976", "uniprot_id": "MYL1_HUMAN", "mass": { "chemical_mass": 21145.0, "monoisotopic_mass": 21145.0 }, "refseq": { "ac": "NP_524144", "name": "myosin light chain 1/3, skeletal muscle isoform isoform 1f", "summary": "Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain expressed in fast skeletal muscle. Two transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_524144" }, "gene_names": [ { "name": "MYL1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P05976", "id": "P05976" }, { "name": "CMYP14; MLC-1; MLC1; MLC1/3; MLC1F; MLC3F; MYOFTA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_524144", "id": "NP_524144" }, { "name": "MYL1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_524144", "id": "NP_524144" } ], "protein_names": [ { "name": "Myosin light chain 1/3, skeletal muscle isoform", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P05976" }, { "name": "MLC1/MLC3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05976" }, { "name": "MLC1F/MLC3F", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05976" }, { "name": "Myosin light chain A1/A2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05976" }, { "name": "Myosin light chain alkali 1/2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05976" }, { "name": "myosin light chain 1/3, skeletal muscle isoform isoform 1f", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_524144", "id": "NP_524144" }, { "name": "myosin, light polypeptide 1, alkali; skeletal, fast; A1 catalytic; A2 catalytic; MLC1/MLC3; MLC1F/MLC3F; myosin light chain A1/A2; myosin light chain alkali 1/2; myosin, light chain 1, alkali; skeletal, fast", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_524144", "id": "NP_524144" } ], "function": [ { "annotation": "Analysis of myosin genes in HNSCC and identify MYL1 as a specific poor prognostic biomarker, promotes tumor metastasis and correlates with tumor immune infiltration in HNSCC. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_524144", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_524144" }, { "database": "PubMed", "id": "37679666", "url": "https://glygen.org/publication/PubMed/37679666" } ] }, { "annotation": "MYBPC2 and MYL1 as Significant Gene Markers for Rhabdomyosarcoma.", "evidence": [ { "database": "RefSeq", "id": "NP_524144", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_524144" }, { "database": "PubMed", "id": "33499774", "url": "https://glygen.org/publication/PubMed/33499774" } ] }, { "annotation": "MYL2 as a potential predictive biomarker for rhabdomyosarcoma.", "evidence": [ { "database": "RefSeq", "id": "NP_524144", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_524144" }, { "database": "PubMed", "id": "34596111", "url": "https://glygen.org/publication/PubMed/34596111" } ] }, { "annotation": "Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain expressed in fast skeletal muscle. Two transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_524144", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_524144" } ] }, { "annotation": "Non-regulatory myosin light chain required for proper formation and/or maintenance of myofibers, and thus appropriate muscle function.", "evidence": [ { "database": "UniProtKB", "id": "P05976", "url": "https://www.uniprot.org/uniprot/P05976#function" }, { "database": "PubMed", "id": "30215711", "url": "https://glygen.org/publication/PubMed/30215711" } ] }, { "annotation": "Our data implicate MYL1 as a crucial protein for adequate skeletal muscle function and that MYL1 deficiency is associated with severe congenital myopathy.", "evidence": [ { "database": "RefSeq", "id": "NP_524144", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_524144" }, { "database": "PubMed", "id": "30215711", "url": "https://glygen.org/publication/PubMed/30215711" } ] }, { "annotation": "These results support the concept of the ATP-induced transient interaction of the essential light chain-1 N-terminus with the motor domain of the myosin head.", "evidence": [ { "database": "RefSeq", "id": "NP_524144", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_524144" }, { "database": "PubMed", "id": "29102634", "url": "https://glygen.org/publication/PubMed/29102634" } ] } ], "disease": [ { "disease_id": "DOID:0081346", "recommended_name": { "id": "DOID:0081346", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081346", "name": "congenital myopathy 14", "description": "A congenital myopathy that is characterized by onset of severe muscle weakness apparent at birth and sometimes in utero and that has_material_basis_in homozygous mutation in the MYL1 gene on chromosome 2q32. Affected infants have difficulty breathing independently and usually require mechanical ventilation for variable lengths of time." }, "synonyms": [ { "id": "MONDO:0034109", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0034109", "name": "congenital myopathy with reduced type 2 muscle fibers", "description": "" }, { "id": "MONDO:0034109", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0034109", "name": "myopathy, congenital, with fast-twitch (type II) fiber atrophy", "description": "" }, { "id": "MONDO:0034109", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0034109", "name": "myopathy, congenital, with fast-twitch (type II) fibre atrophy", "description": "" }, { "id": "MIM:618414", "resource": "MIM", "url": "https://www.omim.org/entry/618414", "name": "Congenital myopathy 14", "description": "Congenital myopathy 14" } ], "evidence": [ { "id": "618414", "database": "MIM", "url": "https://www.omim.org/entry/618414" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "57.72", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168530", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168530" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "80.47", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168530", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168530" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "27.66", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000168530", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168530" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "61.44", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168530", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168530" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "74.89", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168530", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168530" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "16.94", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000168530", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168530" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168530", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168530" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "44.49", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000168530", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168530" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "64.38", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168530", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168530" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168530", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168530" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "44.66", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168530", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168530" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "57.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168530", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168530" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "57.64", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168530", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168530" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P05976", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05976" } ], "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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"description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, 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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", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", 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that arises in the head or neck region. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05976" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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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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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P05976", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05976" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, 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"https://www.uniprot.org/uniprot/P05976-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAPKKDVKKPVAAAAAAPAPAPAPAPAPAPAKPKEEKIDLSAIKIEFSKEQQDEFKEAFLLFDRTGDSKITLSQVGDVLRALGTNPTNAEVRKVLGNPSNEELNAKKIEFEQFLPMMQAISNNKDQATYEDFVEGLRVFDKEGNGTVMGAELRHVLATLGEKMKEEEVEALMAGQEDSNGCINYEAFVKHIMSI", "length": 194, "header": "sp|P05976-1|MYL1_HUMAN Isoform 1 of Myosin light chain 1/3, skeletal muscle isoform OS=Homo sapiens OX=9606 GN=MYL1 PE=1 SV=3 CANONICAL=P05976-1" }, "isoforms": [ { "isoform_ac": "P05976-1", "url": "", "sequence": { "sequence": "MAPKKDVKKPVAAAAAAPAPAPAPAPAPAPAKPKEEKIDLSAIKIEFSKEQQDEFKEAFLLFDRTGDSKITLSQVGDVLRALGTNPTNAEVRKVLGNPSNEELNAKKIEFEQFLPMMQAISNNKDQATYEDFVEGLRVFDKEGNGTVMGAELRHVLATLGEKMKEEEVEALMAGQEDSNGCINYEAFVKHIMSI", "length": 194, "header": "sp|P05976-1|MYL1_HUMAN Isoform 1 of Myosin light chain 1/3, skeletal muscle isoform OS=Homo sapiens OX=9606 GN=MYL1 PE=1 SV=3 CANONICAL=P05976-1" }, "locus": { "chromosome": "2", "start_pos": 210315042, "end_pos": 210291049, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000352451.4", "url": "https://www.ensembl.org/id/ENST00000352451.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000307280.4", "url": "https://www.ensembl.org/id/ENSP00000307280.4" } ] } }, { "isoform_ac": "P05976-2", "url": "", "sequence": { "sequence": "MSFSADQIAEFKEAFLLFDRTGDSKITLSQVGDVLRALGTNPTNAEVRKVLGNPSNEELNAKKIEFEQFLPMMQAISNNKDQATYEDFVEGLRVFDKEGNGTVMGAELRHVLATLGEKMKEEEVEALMAGQEDSNGCINYEAFVKHIMSI", "length": 150, "header": "sp|P05976-2|MYL1_HUMAN Isoform 2 of Myosin light chain 1/3, skeletal muscle isoform OS=Homo sapiens OX=9606 GN=MYL1 PE=1 SV=3 CANONICAL=P05976-1" }, "locus": { "chromosome": "2", "start_pos": 210303544, "end_pos": 210291049, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000341685.8", "url": "https://www.ensembl.org/id/ENST00000341685.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000343321.4", "url": "https://www.ensembl.org/id/ENSP00000343321.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P05976", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P05976" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" } ] } ], "phosphorylation": [ { "start_pos": 71, "end_pos": 71, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P05976", "url": "https://www.uniprot.org/uniprot/P05976" } ], "site_lbl": "Thr71" }, { "start_pos": 73, "end_pos": 73, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P05976", "url": "https://www.uniprot.org/uniprot/P05976" } ], "site_lbl": "Ser73" }, { "start_pos": 87, "end_pos": 87, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P05976", "url": "https://www.uniprot.org/uniprot/P05976" } ], "site_lbl": "Thr87" }, { "start_pos": 99, "end_pos": 99, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P05976", "url": "https://www.uniprot.org/uniprot/P05976" } ], "site_lbl": "Ser99" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "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": "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": "P05976", "url": "https://www.uniprot.org/uniprot/P05976" } ], "reference": [ { "type": "PubMed", "id": "2458299", "url": "https://glygen.org/publication/PubMed/2458299" } ] }, { "title": "Identification of the functional promoter regions in the human gene encoding the myosin alkali light chains MLC1 and MLC3 of fast skeletal muscle.", "journal": "J. Biol. Chem.", "date": "1989", "authors": "Seidel U, Arnold H H", "evidence": [ { "database": "UniProtKB", "id": "P05976", "url": "https://www.uniprot.org/uniprot/P05976" } ], "reference": [ { "type": "PubMed", "id": "2777779", "url": "https://glygen.org/publication/PubMed/2777779" } ] }, { "title": "Transient interaction between the N-terminal extension of the essential light chain-1 and motor domain of the myosin head during the ATPase cycle.", "journal": "Biochemical and biophysical research communications", "date": "2018", "authors": "Logvinova DS, Matyushenko AM, Nikolaeva OP, Levitsky DI", "evidence": [ { "database": "RefSeq", "id": "NP_524144", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_524144" } ], "reference": [ { "type": "PubMed", "id": "29102634", "url": "https://glygen.org/publication/PubMed/29102634" } ] }, { "title": "Bi-allelic mutations in MYL1 cause a severe congenital myopathy.", "journal": "Human molecular genetics", "date": "2018", "authors": "Ravenscroft G, Zaharieva IT, Bortolotti CA, Lambrughi M, Pignataro M, Borsari M, Sewry CA, Phadke R, Haliloglu G, Ong R, Goullee H, Whyte T, Consortium UK, Manzur A, Talim B, Kaya U, Osborn DPS, Forrest ARR, Laing NG, Muntoni F", "evidence": [ { "database": "UniProtKB", "id": "P05976", "url": "https://www.uniprot.org/uniprot/P05976" }, { "database": "RefSeq", "id": "NP_524144", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_524144" } ], "reference": [ { "type": "PubMed", "id": "30215711", "url": "https://glygen.org/publication/PubMed/30215711" } ] }, { "title": "MYBPC2 and MYL1 as Significant Gene Markers for Rhabdomyosarcoma.", "journal": "Technology in cancer research & treatment", "date": "2021", "authors": "Chen Z, Li XY, Guo P, Wang DL", "evidence": [ { "database": "RefSeq", "id": "NP_524144", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_524144" } ], "reference": [ { "type": "PubMed", "id": "33499774", "url": "https://glygen.org/publication/PubMed/33499774" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P05976", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P05976" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "MYL2 as a potential predictive biomarker for rhabdomyosarcoma.", "journal": "Medicine", "date": "2021", "authors": "Wang J, Gao S, Dong K, Guo P, Shan MJ", "evidence": [ { "database": "RefSeq", "id": "NP_524144", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_524144" } ], "reference": [ { "type": "PubMed", "id": "34596111", "url": "https://glygen.org/publication/PubMed/34596111" } ] }, { "title": "The complete nucleotide sequences of cDNA clones coding for human myosin light chains 1 and 3.", "journal": "Nucleic Acids Res.", "date": "1987", "authors": "Seidel U, Bober E, Winter B, Lenz S, Lohse P, Arnold H H", "evidence": [ { "database": "UniProtKB", "id": "P05976", "url": "https://www.uniprot.org/uniprot/P05976" } ], "reference": [ { "type": "PubMed", "id": "3601661", "url": "https://glygen.org/publication/PubMed/3601661" } ] }, { "title": "Analysis of myosin genes in HNSCC and identify MYL1 as a specific poor prognostic biomarker, promotes tumor metastasis and correlates with tumor immune infiltration in HNSCC.", "journal": "BMC cancer", "date": "2023-09-07", "authors": "Li Ce, Guan Rui, Li Wenming, Wei Dongmin, Cao Shengda, Chang Fen, Wei Qun, Wei Ran, Chen Long, Xu Chenyang, Wu Kainan, Lei Dapeng", "evidence": [ { "database": "RefSeq", "id": "NP_524144", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_524144" } ], "reference": [ { "type": "PubMed", "id": "37679666", "url": "https://glygen.org/publication/PubMed/37679666" } ] } ], "pathway": [ { "id": "hsa:4632", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4632", "resource": "KEGG Pathway" }, { "id": "R-HSA-390522", "name": "Striated Muscle Contraction", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390522", "resource": "Reactome", "description": "Striated Muscle Contraction" } ], "orthologs": [ { "uniprot_canonical_ac": "P02600-1", "protein_name": "Myosin light chain 1/3, skeletal muscle isoform", "gene_name": "Myl1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAPKKDVKKPAAAAPAPAPAPAPAPAKPKEEKIDLSAIKIEFSKEQQEEFKEAFLLFDRTGECKITLSQVGDVLRALGTNPTNAEVKKVLGNPSNEEMNAKKIEFEQFLPMMQAISNNKDQGGYEDFVEGLRVFDKEGNGTVMGAELRHVLATLGEKMKEEEVEALLAGQEDSNGCINYEAFVKHIMSV", "length": 189 }, "evidence": [ { "id": "45916956", "url": "http://www.informatics.jax.org/homology/45916956", "database": "MGI" }, { "id": "P05976", "url": "https://omabrowser.org/oma/group/P05976/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P05977-1", "protein_name": "Myosin light chain 1/3, skeletal muscle isoform", "gene_name": "Myl1", "tax_id": 10090, 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