{ "uniprot_canonical_ac": "Q8MLV1-1", "uniprot_ac": "Q8MLV1", "uniprot_id": "LBR_DROME", "mass": { "chemical_mass": 83185.0, "monoisotopic_mass": 83185.0 }, "refseq": { "ac": "NP_611608", "name": "lamin B receptor, isoform A", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_611608" }, "gene_names": [ { "name": "LBR", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q8MLV1", "id": "Q8MLV1" }, { "name": "CG17952; dLBR; Dmel\\CG17952", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_611608", "id": "NP_611608" }, { "name": "CG17952", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8MLV1", "id": "Q8MLV1" }, { "name": "LBR", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_611608", "id": "NP_611608" } ], "protein_names": [ { "name": "Lamin-B receptor", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q8MLV1" }, { "name": "CG17952-PA; LBR-PA; lamin-B receptor; lamin B receptor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_611608", "id": "NP_611608" }, { "name": "dLBR", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8MLV1" }, { "name": "lamin B receptor, isoform A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_611608", "id": "NP_611608" } ], "function": [ { "annotation": "Anchors the lamina and the heterochromatin to the inner nuclear membrane.", "evidence": [ { "database": "UniProtKB", "id": "Q8MLV1", "url": "https://www.uniprot.org/uniprot/Q8MLV1#function" }, { "database": "PubMed", "id": "15054108", "url": "https://glygen.org/publication/PubMed/15054108" } ] } ], "disease": [ { "disease_id": "DOID:0111588", "recommended_name": { "id": "DOID:0111588", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111588", "name": "Greenberg dysplasia", "description": "An inherited metabolic disorder characterized by a defect in cholesterol biosynthesis resulting in fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers that has_material_basis_in homozygous or compound heterozygous mutation in LBR on chromosome 1q42.12." }, "synonyms": [ { "id": "DOID:0111588", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111588", "name": "GRBGD", "description": "" }, { "id": "DOID:0111588", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111588", "name": "Greenberg skeletal dysplasia", "description": "" }, { "id": "DOID:0111588", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111588", "name": "HEM dysplasia", "description": "" }, { "id": "DOID:0111588", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111588", "name": "Skeletal dysplasia, Greenberg type", "description": "" }, { "id": "DOID:0111588", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111588", "name": "hydrops-ectopic calcification-motheaten syndrome", "description": "" }, { "id": "DOID:0111588", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111588", "name": "hydrops, ectopic calcification, moth-eaten skeletal dysplasia", "description": "" }, { "id": "DOID:0111588", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111588", "name": "autosomal recessive lethal chondrodystrophy with congenital hydrops", "description": "" }, { "id": "MONDO:0008974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008974", "name": "Greenberg dysplasia", "description": "A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable." }, { "id": "MONDO:0008974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008974", "name": "Greenberg dysplasia", "description": "" }, { "id": "MONDO:0008974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008974", "name": "hem dysplasia", "description": "" }, { "id": "MONDO:0008974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008974", "name": "hydrops-ectopic calcification-motheaten syndrome", "description": "" }, { "id": "MONDO:0008974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008974", "name": "skeletal dysplasia, Greenberg type", "description": "" }, { "id": "MONDO:0008974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008974", "name": "GRBGD", "description": "" }, { "id": "MONDO:0008974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008974", "name": "Greenberg skeletal dysplasia", "description": "" }, { "id": "MONDO:0008974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008974", "name": "autosomal recessive lethal chondrodystrophy with congenital hydrops", "description": "" }, { "id": "MONDO:0008974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008974", "name": "chondrodystrophy, hydropic and prenatally lethal type", "description": "" }, { "id": "MONDO:0008974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008974", "name": "hem", "description": "" }, { "id": "MONDO:0008974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008974", "name": "hem skeletal dysplasia", "description": "" }, { "id": "MONDO:0008974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008974", "name": "hem/Greenberg dysplasia", "description": "" }, { "id": "MONDO:0008974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008974", "name": "hydrops, ectopic calcification, moth-eaten skeletal dysplasia", "description": "" }, { "id": "MONDO:0008974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008974", "name": "hydrops-ectopic calcification-moth-eaten skeletal dysplasia", "description": "" }, { "id": "MONDO:0008974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008974", "name": "moth-eaten skeletal dysplasia", "description": "" }, { "id": "MIM:215140", "resource": "MIM", "url": "https://www.omim.org/entry/215140", "name": "Greenberg dysplasia", "description": "Greenberg dysplasia" } ], "evidence": [ { "id": "0111588", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111588" } ] }, { "disease_id": "DOID:12236", "recommended_name": { "id": "DOID:12236", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts." }, "synonyms": [ { "id": "DOID:12236", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12236", "name": "primary biliary cirrhosis", "description": "" }, { "id": "DOID:12236", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12236", "name": "biliary liver cirrhosis", "description": "" }, { "id": "DOID:12236", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12236", "name": "cholestatic cirrhosis", "description": "" }, { "id": "DOID:12236", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12236", "name": "chronic nonsuppurative destructive cholangitis", "description": "" }, { "id": "MONDO:0007193", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007193", "name": "primary biliary cholangitis 1", "description": "" }, { "id": "MONDO:0007193", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007193", "name": "PBC1", "description": "" }, { "id": "MONDO:0007193", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007193", "name": "Pbc", "description": "" }, { "id": "MONDO:0007193", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007193", "name": "biliary cirrhosis, primary, 1", "description": "" } ], "evidence": [ { "id": "12236", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ] }, { "disease_id": "DOID:14692", "recommended_name": { "id": "DOID:14692", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14692", "name": "Smith-Lemli-Opitz syndrome", "description": "" }, "synonyms": [ { "id": "DOID:14692", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14692", "name": "Smith-Opitz-Inborn syndrome", "description": "" }, { "id": "DOID:14692", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14692", "name": "Rutledge lethal multiple congenital anomaly syndrome", "description": "" }, { "id": "MONDO:0010035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010035", "name": "Smith-Lemli-Opitz syndrome", "description": "Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems." }, { "id": "MONDO:0010035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010035", "name": "7-dehydrocholesterol reductase deficiency", "description": "" }, { "id": "MONDO:0010035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010035", "name": "RSH syndrome", "description": "" }, { "id": "MONDO:0010035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010035", "name": "Rutledge lethal multiple congenital anomaly syndrome", "description": "" }, { "id": "MONDO:0010035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010035", "name": "SLO syndrome", "description": "" }, { "id": "MONDO:0010035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010035", "name": "SLOS", "description": "" }, { "id": "MONDO:0010035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010035", "name": "Smith-Lemli-Opitz syndrome", "description": "" }, { "id": "MONDO:0010035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010035", "name": "Smith-Opitz-inborn syndrome", "description": "" }, { "id": "MONDO:0010035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010035", "name": "Smith Lemli Opitz syndrome", "description": "" }, { "id": "MONDO:0010035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010035", "name": "lethal acrodysgenital syndrome", "description": "" }, { "id": "MONDO:0010035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010035", "name": "polydactyly, sex reversal, renal hypoplasia, and unilobar lung", "description": "" }, { "id": "MONDO:0010035", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010035", "name": "polydactyly, sex reversal, renal hypoplasia, and unilobular lung", "description": "" }, { "id": "MIM:270400", "resource": "MIM", "url": "https://www.omim.org/entry/270400", "name": "Smith-Lemli-Opitz syndrome", "description": "Smith-Lemli-Opitz syndrome" } ], "evidence": [ { "id": "14692", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14692" } ] }, { "disease_id": "DOID:1702", "recommended_name": { "id": "DOID:1702", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1702", "name": "ichthyosis vulgaris", "description": "An ichthyosis that has_material_basis_in heterozygous mutation in the filaggrin gene (FLG) on chromosome 1q21 and is characterized by dead skin cells accumulate in thick, dry scales on your skin's surface." }, "synonyms": [ { "id": "DOID:1702", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1702", "name": "Dominant congenital ichthyosiform erythroderma", "description": "" }, { "id": "MONDO:0007810", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007810", "name": "autosomal dominant ichthyosis vulgaris", "description": "Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin. It often begins in early childhood. Treatment may include heavy duty moisturizers which contain chemicals that help the skin to shed normally, including lactic acid, salicylic acid, and urea. Ichthyosis vulgaris can be a nuisance, but it rarely affects overall health. The condition usually disappears during adulthood, but may return in later years. This condition is inherited in an autosomal dominant pattern." }, { "id": "MONDO:0007810", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007810", "name": "autosomal dominant ichthyosis vulgaris", "description": "" }, { "id": "MONDO:0007810", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007810", "name": "dominant congenital ichthyosiform erythroderma", "description": "" }, { "id": "MONDO:0007810", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007810", "name": "ichthyosis vulgaris, autosomal dominant", "description": "" }, { "id": "MONDO:0007810", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007810", "name": "dominant ichthyosis vulgaris", "description": "" }, { "id": "MONDO:0007810", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007810", "name": "ichthyosis simplex", "description": "" }, { "id": "MONDO:0007810", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007810", "name": "ichthyosis vulgaris", "description": "" }, { "id": "MIM:146700", "resource": "MIM", "url": "https://www.omim.org/entry/146700", "name": "Ichthyosis vulgaris", "description": "Ichthyosis vulgaris" } ], "evidence": [ { "id": "1702", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1702" } ] }, { "disease_id": "DOID:9074", "recommended_name": { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart." }, "synonyms": [ { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "Lupus Erythematosus, systemic", "description": "" }, { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "SLE - Lupus Erythematosus, systemic", "description": "" }, { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "disseminated lupus erythematosus", "description": "" }, { "id": "MONDO:0012361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012361", "name": "systemic lupus erythematosus, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012361", "name": "SLEB5", "description": "" }, { "id": "MONDO:0012361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012361", "name": "systemic lupus erythematosus, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012404", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012404", "name": "systemic lupus erythematosus, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012404", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012404", "name": "SLEB8", "description": "" }, { "id": "MONDO:0012404", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012404", "name": "systemic lupus erythematosus, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012403", "name": "systemic lupus erythematosus, susceptibility to, 7", "description": "" }, { "id": "MONDO:0012403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012403", "name": "SLEB7", "description": "" }, { "id": "MONDO:0012403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012403", "name": "systemic lupus erythematosus, susceptibility to, 7", "description": "" }, { "id": "MONDO:0012836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012836", "name": "systemic lupus erythematosus, susceptibility to, 12", "description": "" }, { "id": "MONDO:0012836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012836", "name": "SLEB12", "description": "" }, { "id": "MONDO:0012836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012836", "name": "systemic lupus erythematosus, susceptibility to, 12", "description": "" }, { "id": "MONDO:0013152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013152", "name": "systemic lupus erythematosus, susceptibility to, 14", "description": "" }, { "id": "MONDO:0013152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013152", "name": "SLEB14", "description": "" }, { "id": "MONDO:0013152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013152", "name": "systemic lupus erythematosus, susceptibility to, 14", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus", "description": "An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific." }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "SLE", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "SLE - lupus erythematosus, systemic", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "disseminated lupus erythematosus", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "lupus erythematosus, systemic", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus (disease)", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus susceptibility to", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus, susceptibility to", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "excess LMW-DNA", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "excess lymphocyte low molecular weight DNA", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "lupus nephritis, susceptibility to", "description": "" }, { "id": "MONDO:0010433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010433", "name": "systemic lupus erythematosus, susceptibility to, 15", "description": "" }, { "id": "MONDO:0010433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010433", "name": "SLEB15", "description": "" }, { "id": "MONDO:0010433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010433", "name": "systemic lupus erythematosus, susceptibility to, 15", "description": "" }, { "id": "MONDO:0012036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012036", "name": "systemic lupus erythematosus, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012036", "name": "SLEB4", "description": "" }, { "id": "MONDO:0012036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012036", "name": "systemic lupus erythematosus, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012369", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012369", "name": "systemic lupus erythematosus, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012369", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012369", "name": "SLEB6", "description": "" }, { "id": "MONDO:0012369", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012369", "name": "systemic lupus erythematosus, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012884", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012884", "name": "systemic lupus erythematosus, susceptibility to, 13", "description": "" }, { "id": "MONDO:0012884", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012884", "name": "SLEB13", "description": "" }, { "id": "MONDO:0012884", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012884", "name": "systemic lupus erythematosus, susceptibility to, 13", "description": "" }, { "id": "MONDO:0011560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011560", "name": "systemic lupus erythematosus, susceptibility to, 3", "description": "" }, { "id": "MONDO:0011560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011560", "name": "SLEB3", "description": "" }, { "id": "MONDO:0011560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011560", "name": "systemic lupus erythematosus, susceptibility to, 3", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "autosomal systemic lupus erythematosus type 16", "description": "An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3." }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "autosomal SLE", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "familial SLE", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "familial systemic lupus erythematosus", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "SLEB16", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "systemic lupus erythematosus 16", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "systemic lupus erythematosus type 16", "description": "" }, { "id": "MIM:152700", "resource": "MIM", "url": "https://www.omim.org/entry/152700", "name": "Systemic lupus erythematosus", "description": "Systemic lupus erythematosus" }, { "id": "MIM:609939", "resource": "MIM", "url": "https://www.omim.org/entry/609939", "name": "Systemic lupus erythematosus 6", "description": "Systemic lupus erythematosus 6" }, { "id": "MIM:614420", "resource": "MIM", "url": "https://www.omim.org/entry/614420", "name": "Systemic lupus erythematosus 16", "description": "Systemic lupus erythematosus 16" } ], "evidence": [ { "id": "9074", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ] }, { "disease_id": "DOID:9631", "recommended_name": { "id": "DOID:9631", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9631", "name": "Pelger-Huet anomaly", "description": "A hematopoietic system disease characterized by white blood cells with unusually shaped nuclei that has_material_basis_in heterozygous mutation in LBR on chromosome 1q42.12." }, "synonyms": [ { "id": "MONDO:0008214", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008214", "name": "Pelger-Huet anomaly", "description": "An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear." }, { "id": "MONDO:0008214", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008214", "name": "Pelger-Huet anomaly", "description": "" }, { "id": "MONDO:0008214", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008214", "name": "PHA", "description": "" }, { "id": "MONDO:0008214", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008214", "name": "Pelger Huet anomaly", "description": "" }, { "id": "MONDO:0008214", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008214", "name": "Pelger-Huet nuclear anomaly", "description": "" }, { "id": "MONDO:0008214", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008214", "name": "ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities", "description": "" }, { "id": "MIM:169400", "resource": "MIM", "url": "https://www.omim.org/entry/169400", "name": "Pelger-Huet anomaly", "description": "Pelger-Huet anomaly" } ], "evidence": [ { "id": "9631", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9631" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8MLV1", "url": "https://www.uniprot.org/uniprot/Q8MLV1" } ], "common_name": "Fruit fly" } ], "gene": [ { "name": "LBR", "url": "https://www.uniprot.org/uniprot/Q8MLV1", "locus": { "chromosome": "2R", "start_pos": 21724055, "end_pos": 21720495, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "FBgn0034657", "url": "https://www.ensembl.org/id/FBgn0034657" } ] } } ], "crossref": [ { "id": "FBgn0034657", "url": "https://bgee.org/?page=gene&gene_id=FBgn0034657", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "FBgn0034657", "url": "https://flybase.org/reports/FBgn0034657", "database": "FlyBase", "categories": [ "Organism-specific" ] }, { "id": "37482", "url": "https://www.ncbi.nlm.nih.gov/gene/37482", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "Q8MLV1", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q8MLV1*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001171", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001171", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "dme:Dmel_CG17952", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG17952", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "Q8MLV1", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8MLV1", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "HSSWHRY", "url": "https://omabrowser.org/oma/group/HSSWHRY/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "275939at2759", "url": "http://www.orthodb.org/?query=275939at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR21257", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR21257", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR21257:SF54", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR21257:SF54", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF01222", "url": "http://pfam.xfam.org/family/PF01222", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_Q8MLV1", "url": "http://purl.obolibrary.org/obo/PR_Q8MLV1", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-DME-191273", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-191273", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_611608", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_611608", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "Q8MLV1", "url": "https://www.uniprot.org/uniprot/Q8MLV1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8MLV1-1", "url": "https://www.uniprot.org/uniprot/Q8MLV1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8MLV1-2", "url": "https://www.uniprot.org/uniprot/Q8MLV1-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MQHSPSTTTDHIHFAARFFDRNSYTMDRRLRRPRRTEDVSSGPLLAQSKQPSLLPVTRRTGSVTAAGATATATATAGPATRTRASPSRNKVVAPPSPDLGPRTRRSSRPRSSVGPLTGSGSGSSLPIKAAIKARTPIPEVSEVSSPIRLSTSNLPMTLTTNTSSGAPNKAFNTSSVNSGNSFSRTTTSSTTTTTERIEIRAEGDGEVDTDSIRKRITERLRRSVSKTISNLAGTPVTNTEEGSRYSRSVSRSVYDDEKSSKRSYSTGEEDIDEEDELEEDQFRSFNVTRKSATPAEISCRQLKAPREFGGWLGAFLFLLLLPTAVYYLTWSCTARNACQFKHLNLGILLDVNYLTRQVFQPRVVGAFAAYQVVVFLLVALLPGRRVHLTRETYKFNCLAVSLTLLIASGVAEYLKYPVVTFVLRHYLRFCIFGLVGAFVAAAWSYWLVDTAKYNVLRQTLTNDYGRTGSFVVDFALGRQLNPKWLGRVDWKQFQYRLSLVTTLIYATCYIYQTLVWPQKPQLGEQEGYLYQAKYYWNNVNYDPATLFSASCLLFYVLDAIIFEHHLSSSFELQHEGYGCLLLLRYAATPYLLTAVTKYFYEQRVPISCWYAPLAVAALLSLGLLVKRFSCAYKYKYRLNSQSPIFANIETIHTYQGSRLLLSGMWGWVRQPNYLGDIVALLALAAPMALRPAWPPVLGLSLIILLLLHRATRANARNQARYHSSWQRYSTQVRSYILPRVY", "length": 741, "header": "sp|Q8MLV1-1|LBR_DROME Isoform 1 of Lamin-B receptor OS=Drosophila melanogaster OX=7227 GN=LBR PE=1 SV=1 CANONICAL=Q8MLV1-1" }, "isoforms": [ { "isoform_ac": "Q8MLV1-1", "url": "", "sequence": { "sequence": "MQHSPSTTTDHIHFAARFFDRNSYTMDRRLRRPRRTEDVSSGPLLAQSKQPSLLPVTRRTGSVTAAGATATATATAGPATRTRASPSRNKVVAPPSPDLGPRTRRSSRPRSSVGPLTGSGSGSSLPIKAAIKARTPIPEVSEVSSPIRLSTSNLPMTLTTNTSSGAPNKAFNTSSVNSGNSFSRTTTSSTTTTTERIEIRAEGDGEVDTDSIRKRITERLRRSVSKTISNLAGTPVTNTEEGSRYSRSVSRSVYDDEKSSKRSYSTGEEDIDEEDELEEDQFRSFNVTRKSATPAEISCRQLKAPREFGGWLGAFLFLLLLPTAVYYLTWSCTARNACQFKHLNLGILLDVNYLTRQVFQPRVVGAFAAYQVVVFLLVALLPGRRVHLTRETYKFNCLAVSLTLLIASGVAEYLKYPVVTFVLRHYLRFCIFGLVGAFVAAAWSYWLVDTAKYNVLRQTLTNDYGRTGSFVVDFALGRQLNPKWLGRVDWKQFQYRLSLVTTLIYATCYIYQTLVWPQKPQLGEQEGYLYQAKYYWNNVNYDPATLFSASCLLFYVLDAIIFEHHLSSSFELQHEGYGCLLLLRYAATPYLLTAVTKYFYEQRVPISCWYAPLAVAALLSLGLLVKRFSCAYKYKYRLNSQSPIFANIETIHTYQGSRLLLSGMWGWVRQPNYLGDIVALLALAAPMALRPAWPPVLGLSLIILLLLHRATRANARNQARYHSSWQRYSTQVRSYILPRVY", "length": 741, "header": "sp|Q8MLV1-1|LBR_DROME Isoform 1 of Lamin-B receptor OS=Drosophila melanogaster OX=7227 GN=LBR PE=1 SV=1 CANONICAL=Q8MLV1-1" }, "locus": { "chromosome": "2R", "start_pos": 21723654, "end_pos": 21720902, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0071713", "url": "https://www.ensembl.org/id/FBtr0071713" }, { "database": "Ensembl Peptide", "id": "FBpp0071630", "url": "https://www.ensembl.org/id/FBpp0071630" } ] } }, { "isoform_ac": "Q8MLV1-2", "url": "", "sequence": { "sequence": "MDRRLRRPRRTEDVSSGPLLAQSKQPSLLPVTRRTGSVTAAGATATATATAGPATRTRASPSRNKVVAPPSPDLGPRTRRSSRPRSSVGPLTGSGSGSSLPIKAAIKARTPIPEVSEVSSPIRLSTSNLPMTLTTNTSSGAPNKAFNTSSVNSGNSFSRTTTSSTTTTTERIEIRAEGDGEVDTDSIRKRITERLRRSVSKTISNLAGTPVTNTEEGSRYSRSVSRSVYDDEKSSKRSYSTGEEDIDEEDELEEDQFRSFNVTRKSATPAEISCRQLKAPREFGGWLGAFLFLLLLPTAVYYLTWSCTARNACQFKHLNLGILLDVNYLTRQVFQPRVVGAFAAYQVVVFLLVALLPGRRVHLTRETYKFNCLAVSLTLLIASGVAEYLKYPVVTFVLRHYLRFCIFGLVGAFVAAAWSYWLVDTAKYNVLRQTLTNDYGRTGSFVVDFALGRQLNPKWLGRVDWKQFQYRLSLVTTLIYATCYIYQTLVWPQKPQLGEQEGYLYQAKYYWNNVNYDPATLFSASCLLFYVLDAIIFEHHLSSSFELQHEGYGCLLLLRYAATPYLLTAVTKYFYEQRVPISCWYAPLAVAALLSLGLLVKRFSCAYKYKYRLNSQSPIFANIETIHTYQGSRLLLSGMWGWVRQPNYLGDIVALLALAAPMALRPAWPPVLGLSLIILLLLHRATRANARNQARYHSSWQRYSTQVRSYILPRVY", "length": 716, "header": "sp|Q8MLV1-2|LBR_DROME Isoform 2 of Lamin-B receptor OS=Drosophila melanogaster OX=7227 GN=LBR PE=1 SV=1 CANONICAL=Q8MLV1-1" }, "locus": { "chromosome": "2R", "start_pos": 21723654, "end_pos": 21720977, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0071712", "url": "https://www.ensembl.org/id/FBtr0071712" }, { "database": "Ensembl Peptide", "id": "FBpp0071629", "url": "https://www.ensembl.org/id/FBpp0071629" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "Q8MLV1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8MLV1" }, { "id": "33925313", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33925313" } ] } ], "phosphorylation": [ { "start_pos": 111, "end_pos": 111, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8MLV1", "url": "https://www.uniprot.org/uniprot/Q8MLV1" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "phospho.ELM", "id": "Q8MLV1", "url": "http://phospho.elm.eu.org/byAccession/Q8MLV1.html" }, { "database": "iPTMnet", "id": "Q8MLV1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8MLV1" } ], "site_lbl": "Ser111" }, { "start_pos": 135, "end_pos": 135, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q8MLV1", "url": "https://www.uniprot.org/uniprot/Q8MLV1" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "phospho.ELM", "id": "Q8MLV1", "url": "http://phospho.elm.eu.org/byAccession/Q8MLV1.html" }, { "database": "iPTMnet", "id": "Q8MLV1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8MLV1" } ], "site_lbl": "Thr135" }, { "start_pos": 144, "end_pos": 144, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8MLV1", "url": "https://www.uniprot.org/uniprot/Q8MLV1" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "phospho.ELM", "id": "Q8MLV1", "url": "http://phospho.elm.eu.org/byAccession/Q8MLV1.html" }, { "database": "iPTMnet", "id": "Q8MLV1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8MLV1" } ], "site_lbl": "Ser144" }, { "start_pos": 223, "end_pos": 223, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8MLV1", "url": "https://www.uniprot.org/uniprot/Q8MLV1" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "phospho.ELM", "id": "Q8MLV1", "url": "http://phospho.elm.eu.org/byAccession/Q8MLV1.html" }, { "database": "iPTMnet", "id": "Q8MLV1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8MLV1" } ], "site_lbl": "Ser223" }, { "start_pos": 225, "end_pos": 225, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8MLV1", "url": "https://www.uniprot.org/uniprot/Q8MLV1" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "phospho.ELM", "id": "Q8MLV1", "url": "http://phospho.elm.eu.org/byAccession/Q8MLV1.html" }, { "database": "iPTMnet", "id": "Q8MLV1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8MLV1" } ], "site_lbl": "Ser225" }, { "start_pos": 234, "end_pos": 234, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q8MLV1", "url": "https://www.uniprot.org/uniprot/Q8MLV1" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "phospho.ELM", "id": "Q8MLV1", "url": "http://phospho.elm.eu.org/byAccession/Q8MLV1.html" }, { "database": "iPTMnet", "id": "Q8MLV1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8MLV1" } ], "site_lbl": "Thr234" }, { "start_pos": 237, "end_pos": 237, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q8MLV1", "url": "https://www.uniprot.org/uniprot/Q8MLV1" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "phospho.ELM", "id": "Q8MLV1", "url": "http://phospho.elm.eu.org/byAccession/Q8MLV1.html" }, { "database": "iPTMnet", "id": "Q8MLV1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8MLV1" } ], "site_lbl": "Thr237" }, { "start_pos": 243, "end_pos": 243, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8MLV1", "url": "https://www.uniprot.org/uniprot/Q8MLV1" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "phospho.ELM", "id": "Q8MLV1", "url": "http://phospho.elm.eu.org/byAccession/Q8MLV1.html" }, { "database": "iPTMnet", "id": "Q8MLV1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8MLV1" } ], "site_lbl": "Ser243" }, { "start_pos": 246, "end_pos": 246, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8MLV1", "url": "https://www.uniprot.org/uniprot/Q8MLV1" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "phospho.ELM", "id": "Q8MLV1", "url": "http://phospho.elm.eu.org/byAccession/Q8MLV1.html" }, { "database": "iPTMnet", "id": "Q8MLV1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8MLV1" } ], "site_lbl": "Ser246" }, { "start_pos": 248, "end_pos": 248, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8MLV1", "url": "https://www.uniprot.org/uniprot/Q8MLV1" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "phospho.ELM", "id": "Q8MLV1", "url": "http://phospho.elm.eu.org/byAccession/Q8MLV1.html" }, { "database": "iPTMnet", "id": "Q8MLV1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8MLV1" } ], "site_lbl": "Ser248" }, { "start_pos": 250, "end_pos": 250, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8MLV1", "url": "https://www.uniprot.org/uniprot/Q8MLV1" }, { "database": "PubMed", "id": "18327897", "url": 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Hoskins RA, Galle RF, George RA, Lewis SE, Richards S, Ashburner M, Henderson SN, Sutton GG, Wortman JR, Yandell MD, Zhang Q, Chen LX, Brandon RC, Rogers YH, Blazej RG, Champe M, Pfeiffer BD, Wan KH, Doyle C, Baxter EG, Helt G, Nelson CR, Gabor GL, Abril JF, Agbayani A, An HJ, Andrews-Pfannkoch C, Baldwin D, Ballew RM, Basu A, Baxendale J, Bayraktaroglu L, Beasley EM, Beeson KY, Benos PV, Berman BP, Bhandari D, Bolshakov S, Borkova D, Botchan MR, Bouck J, Brokstein P, Brottier P, Burtis KC, Busam DA, Butler H, Cadieu E, Center A, Chandra I, Cherry JM, Cawley S, Dahlke C, Davenport LB, Davies P, de Pablos B, Delcher A, Deng Z, Mays AD, Dew I, Dietz SM, Dodson K, Doup LE, Downes M, Dugan-Rocha S, Dunkov BC, Dunn P, Durbin KJ, Evangelista CC, Ferraz C, Ferriera S, Fleischmann W, Fosler C, Gabrielian AE, Garg NS, Gelbart WM, Glasser K, Glodek A, Gong F, Gorrell JH, Gu Z, Guan P, Harris M, Harris NL, Harvey D, Heiman TJ, Hernandez JR, Houck J, Hostin D, Houston KA, Howland TJ, Wei MH, Ibegwam C, Jalali M, Kalush F, Karpen GH, Ke Z, Kennison JA, Ketchum KA, Kimmel BE, Kodira CD, Kraft C, Kravitz S, Kulp D, Lai Z, Lasko P, Lei Y, Levitsky AA, Li J, Li Z, Liang Y, Lin X, Liu X, Mattei B, McIntosh TC, McLeod MP, McPherson D, Merkulov G, Milshina NV, Mobarry C, Morris J, Moshrefi A, Mount SM, Moy M, Murphy B, Murphy L, Muzny DM, Nelson DL, Nelson DR, Nelson KA, Nixon K, Nusskern DR, Pacleb JM, Palazzolo M, Pittman GS, Pan S, Pollard J, Puri V, Reese MG, Reinert K, Remington K, Saunders RD, Scheeler F, Shen H, Shue BC, Siden-Kiamos I, Simpson M, Skupski MP, Smith T, Spier E, Spradling AC, Stapleton M, Strong R, Sun E, Svirskas R, Tector C, Turner R, Venter E, Wang AH, Wang X, Wang ZY, Wassarman DA, Weinstock GM, Weissenbach J, Williams SM, WoodageT, Worley KC, Wu D, Yang S, Yao QA, Ye J, Yeh RF, Zaveri JS, Zhan M, Zhang G, Zhao Q, Zheng L, Zheng XH, Zhong FN, Zhong W, Zhou X, Zhu S, Zhu X, Smith HO, Gibbs RA, Myers EW, Rubin GM, Venter JC", "evidence": [ { "database": 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Bettencourt BR, Celniker SE, de Grey AD, Drysdale RA, Harris NL, Richter J, Russo S, Schroeder AJ, Shu SQ, Stapleton M, Yamada C, Ashburner M, Gelbart WM, Rubin GM, Lewis SE", "evidence": [ { "database": "UniProtKB", "id": "Q8MLV1", "url": "https://www.uniprot.org/uniprot/Q8MLV1" } ], "reference": [ { "type": "PubMed", "id": "12537572", "url": "https://glygen.org/publication/PubMed/12537572" } ] }, { "title": "The lamin B receptor of Drosophila melanogaster.", "journal": "J. Cell Sci.", "date": "2004", "authors": "Krohne G., Weber D., Wagner N., Seitz S.", "evidence": [ { "database": "UniProtKB", "id": "Q8MLV1", "url": "https://www.uniprot.org/uniprot/Q8MLV1" } ], "reference": [ { "type": "PubMed", "id": "15054108", "url": "https://glygen.org/publication/PubMed/15054108" } ] }, { "title": "Phosphoproteome analysis of Drosophila melanogaster embryos.", "journal": "Journal of proteome research", "date": "2008", "authors": "Zhai B, Villen J, Beausoleil SA, Mintseris J, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q8MLV1", "url": "https://www.uniprot.org/uniprot/Q8MLV1" }, { "database": "iPTMnet", "id": "Q8MLV1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8MLV1" } ], "reference": [ { "type": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" } ] }, { "title": "Drosophila O-GlcNAcase Mutants Reveal an Expanded Glycoproteome and Novel Growth and Longevity Phenotypes.", "journal": "Cells", "date": 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