{ "uniprot_canonical_ac": "Q9Z2E9-1", "uniprot_ac": "Q9Z2E9", "uniprot_id": "BSCL2_MOUSE", "mass": { "chemical_mass": 43105.0, "monoisotopic_mass": 43105.0 }, "refseq": { "ac": "NP_001129536", "name": "seipin isoform 1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129536" }, "gene_names": [ { "name": "Bscl2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9Z2E9", "id": "Q9Z2E9" }, { "name": "2900097C17Rik; Gng3lg", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129536", "id": "NP_001129536" }, { "name": "Bscl2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129536", "id": "NP_001129536" }, { "name": "Gng3lg", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9Z2E9", "id": "Q9Z2E9" }, { "name": "MNCb-2630", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9Z2E9", "id": "Q9Z2E9" } ], "protein_names": [ { "name": "Seipin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9Z2E9" }, { "name": "Bernardinelli-Seip congenital lipodystrophy type 2 protein homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9Z2E9" }, { "name": "seipin isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129536", "id": "NP_001129536" }, { "name": "seipin; bernardinelli-Seip congenital lipodystrophy type 2 protein homolog; G protein gamma 3 linked; Bernardinelli-Seip congenital lipodystrophy 2 homolog; Berardinelli-Seip congenital lipodystrophy 2 homolog (seipin); Berardinelli-Seip congenital lipodystrophy 2 (seipin)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129536", "id": "NP_001129536" } ], "function": [ { "annotation": "BSCL2/Seipin deficiency in hearts causes cardiac energy deficit and dysfunction via inducing excessive lipid catabolism.", "evidence": [ { "database": "RefSeq", "id": "NP_001129536", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129536" }, { "database": "PubMed", "id": "35384404", "url": "https://glygen.org/publication/PubMed/35384404" } ] }, { "annotation": "Mice deficient in ER protein seipin have reduced adrenal cholesteryl ester lipid droplet formation and utilization.", "evidence": [ { "database": "RefSeq", "id": "NP_001129536", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129536" }, { "database": "PubMed", "id": "36332685", "url": "https://glygen.org/publication/PubMed/36332685" } ] }, { "annotation": "Plays a crucial role in the formation of lipid droplets (LDs) which are storage organelles at the center of lipid and energy homeostasis (By similarity).In association with LDAF1, defines the sites of LD formation in the ER (By similarity). Also required for growth and maturation of small nascent LDs into larger mature LDs (By similarity). Mediates the formation and/or stabilization of endoplasmic reticulum-lipid droplets (ER-LD) contacts, facilitating protein and lipid delivery from the ER into growing LDs (By similarity). Regulates the maturation of ZFYVE1-positive nascent LDs and the function of the RAB18-ZFYVE1 complex in mediating the formation of ER-LD contacts (By similarity). Binds anionic phospholipids including phosphatidic acid (By similarity). Plays an important role in the differentiation and development of adipocytes (PubMed:18458148, PubMed:19574402, PubMed:21551454, PubMed:22269949).", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2E9", "url": "https://www.uniprot.org/uniprot/Q9Z2E9#function" }, { "database": "UniProtKB", "id": "Q96G97", "url": "https://www.uniprot.org/uniprot/Q96G97#function" }, { "database": "PubMed", "id": "18458148", "url": "https://glygen.org/publication/PubMed/18458148" }, { "database": "PubMed", "id": "21551454", "url": "https://glygen.org/publication/PubMed/21551454" }, { "database": "PubMed", "id": "19574402", "url": "https://glygen.org/publication/PubMed/19574402" }, { "database": "PubMed", "id": "22269949", "url": "https://glygen.org/publication/PubMed/22269949" } ] }, { "annotation": "Seipin localizes at endoplasmic-reticulum-mitochondria contact sites to control mitochondrial calcium import and metabolism in adipocytes.", "evidence": [ { "database": "RefSeq", "id": "NP_001129536", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129536" }, { "database": "PubMed", "id": "35021082", "url": "https://glygen.org/publication/PubMed/35021082" } ] } ], "disease": [ { "disease_id": "DOID:0050585", "recommended_name": { "id": "DOID:0050585", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050585", "name": "congenital generalized lipodystrophy", "description": "A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance." }, "synonyms": [ { "id": "MONDO:0012071", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012071", "name": "congenital generalized lipodystrophy type 1", "description": "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene." }, { "id": "MONDO:0012071", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012071", "name": "AGPAT2 congenital generalised lipodystrophy (disease)", "description": "" }, { "id": "MONDO:0012071", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012071", "name": "AGPAT2 congenital generalized lipodystrophy (disease)", "description": "" }, { "id": "MONDO:0012071", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012071", "name": "BSCL1", "description": "" }, { "id": "MONDO:0012071", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012071", "name": "Berardinelli-Seip congenital lipodystrophy, type 1", "description": "" }, { "id": "MONDO:0012071", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012071", "name": "Brunzell syndrome AGPAT2-related", "description": "" }, { "id": "MONDO:0012071", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012071", "name": "CGL1", "description": "" }, { "id": "MONDO:0012071", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012071", "name": "congenital generalised lipodystrophy (disease) caused by mutation in AGPAT2", "description": "" }, { "id": "MONDO:0012071", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012071", "name": "congenital generalized lipodystrophy (disease) caused by mutation in AGPAT2", "description": "" }, { "id": "MONDO:0012071", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012071", "name": "congenital generalized lipodystrophy type 1", "description": "" }, { "id": "MONDO:0012071", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012071", "name": "AGPAT2-related Brunzell syndrome", "description": "" }, { "id": "MONDO:0012071", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012071", "name": "Berardinelli-Seip congenital lipodystrophy type 1", "description": "" }, { "id": "MONDO:0012071", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012071", "name": "Brunzell syndrome, AGPAT2-related", "description": "" }, { "id": "MONDO:0012071", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012071", "name": "lipodystrophy, Berardinelli-Seip congenital, type 1", "description": "" }, { "id": "MONDO:0012071", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012071", "name": "lipodystrophy, congenital generalized, type 1", "description": "" }, { "id": "MIM:608594", "resource": "MIM", "url": "https://www.omim.org/entry/608594", "name": "Congenital generalized lipodystrophy 1", "description": "Congenital generalized lipodystrophy 1" } ], "evidence": [ { "id": "0050585", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050585" } ] }, { "disease_id": "DOID:0110770", "recommended_name": { "id": "DOID:0110770", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110770", "name": "hereditary spastic paraplegia 17", "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12." }, "synonyms": [ { "id": "DOID:0110770", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110770", "name": "SPG17", "description": "" }, { "id": "DOID:0110770", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110770", "name": "Silver spastic paraplegia syndrome", "description": "" }, { "id": "DOID:0110770", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110770", "name": "Silver syndrome", "description": "" }, { "id": "DOID:0110770", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110770", "name": "autosomal dominant spastic paraplegia 17", "description": "" }, { "id": "DOID:0110770", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110770", "name": "autosomal dominant spastic paraplegia type 17", "description": "" }, { "id": "DOID:0110770", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110770", "name": "dHMN5B", "description": "" }, { "id": "DOID:0110770", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110770", "name": "distal hereditary motor neuropathy type 5B", "description": "" }, { "id": "DOID:0110770", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110770", "name": "spastic paraplegia with amyotrophy of hands and feet", "description": "" }, { "id": "DOID:0110770", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110770", "name": "spastic paraplegia-amyotrophy of hands and feet", "description": "" }, { "id": "MONDO:0010043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010043", "name": "hereditary spastic paraplegia 17", "description": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene." }, { "id": "MONDO:0010043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010043", "name": "BSCL2 hereditary spastic paraplegia", "description": "" }, { "id": "MONDO:0010043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010043", "name": "SPG17", "description": "" }, { "id": "MONDO:0010043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010043", "name": "Silver spastic paraplegia syndrome", "description": "" }, { "id": "MONDO:0010043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010043", "name": "Silver syndrome", "description": "" }, { "id": "MONDO:0010043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010043", "name": "autosomal dominant spastic paraplegia 17", "description": "" }, { "id": "MONDO:0010043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010043", "name": "autosomal dominant spastic paraplegia type 17", "description": "" }, { "id": "MONDO:0010043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010043", "name": "dHMN5B", "description": "" }, { "id": "MONDO:0010043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010043", "name": "distal hereditary motor neuropathy type 5B", "description": "" }, { "id": "MONDO:0010043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010043", "name": "hereditary spastic paraplegia caused by mutation in BSCL2", "description": "" }, { "id": "MONDO:0010043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010043", "name": "hereditary spastic paraplegia type 17", "description": "" }, { "id": "MONDO:0010043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010043", "name": "spastic paraplegia with amyotrophy of hands and feet", "description": "" }, { "id": "MONDO:0010043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010043", "name": "spastic paraplegia-amyotrophy of hands and feet", "description": "" }, { "id": "MONDO:0010043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010043", "name": "spastic paraplegia 17", "description": "" }, { "id": "MONDO:0010043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010043", "name": "spastic paraplegia 17, autosomal dominant", "description": "" }, { "id": "MIM:270685", "resource": "MIM", "url": "https://www.omim.org/entry/270685", "name": "Spastic paraplegia 17, autosomal dominant", "description": "Spastic paraplegia 17, autosomal dominant" } ], "evidence": [ { "id": "0110770", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110770" } ] }, { "disease_id": "DOID:0111136", "recommended_name": { "id": "DOID:0111136", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111136", "name": "congenital generalized lipodystrophy type 2", "description": "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3." }, "synonyms": [ { "id": "DOID:0111136", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111136", "name": "Berardinelli-Seip congenital lipodystrophy type 2", "description": "" }, { "id": "DOID:0111136", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111136", "name": "Berardinelli-Seip syndrome", "description": "" }, { "id": "DOID:0111136", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111136", "name": "Brunzell syndrome BSCL2-related", "description": "" }, { "id": "DOID:0111136", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111136", "name": "CGL2", "description": "" }, { "id": "DOID:0111136", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111136", "name": "congenital lipoatrophic diabetes", "description": "" }, { "id": "DOID:0111136", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111136", "name": "total lipodystrophy and acromegaloid gigantism", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "congenital generalized lipodystrophy type 2", "description": "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the BSCL2 gene." }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "BSCL2 congenital generalised lipodystrophy (disease)", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "BSCL2 congenital generalized lipodystrophy (disease)", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "Berardinelli-Seip congenital lipodystrophy type 2", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "Berardinelli-Seip syndrome", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "Brunzell syndrome BSCL2-related", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "CGL2", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "congenital generalised lipodystrophy (disease) caused by mutation in BSCL2", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "congenital generalized lipodystrophy (disease) caused by mutation in BSCL2", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "congenital lipoatrophic diabetes", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "total lipodystrophy and acromegaloid gigantism", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "BSCL2-related Brunzell syndrome", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "Berardinelli Seip congenital lipodystrophy type 2", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "Berardinelli syndrome", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "Berardinelli-Seip congenital lipodystrophy, type 2", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "Brunzell syndrome, BSCL2-related", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "Seip syndrome", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "lipoatrophic diabetes, congenital", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "lipodystrophy, Berardinelli-Seip congenital, type 2", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "lipodystrophy, congenital generalized, type 2", "description": "" }, { "id": "MONDO:0010020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010020", "name": "lipodystrophy, total, and acromegaloid gigantism", "description": "" }, { "id": "MIM:269700", "resource": "MIM", "url": "https://www.omim.org/entry/269700", "name": "Congenital generalized lipodystrophy 2", "description": "Congenital generalized lipodystrophy 2" } ], "evidence": [ { "id": "0111136", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111136" } ] }, { "disease_id": "DOID:12336", "recommended_name": { "id": "DOID:12336", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12336", "name": "male infertility", "description": "" }, "synonyms": [], "evidence": [ { "id": "12336", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12336" } ] }, { "disease_id": "DOID:14227", "recommended_name": { "id": "DOID:14227", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14227", "name": "azoospermia", "description": "A male infertility disease characterized by the absence of any measurable level of sperm in semen." }, "synonyms": [], "evidence": [ { "id": "14227", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14227" } ] }, { "disease_id": "DOID:2476", "recommended_name": { "id": "DOID:2476", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2476", "name": "hereditary spastic paraplegia", "description": "A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs." }, "synonyms": [ { "id": "DOID:2476", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2476", "name": "French settlement disease", "description": "" }, { "id": "DOID:2476", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2476", "name": "Strumpell-Lorrain disease", "description": "" }, { "id": "DOID:2476", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2476", "name": "familial spastic paraplegia", "description": "" }, { "id": "DOID:2476", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2476", "name": "hereditary spastic paraparesis", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "MASA syndrome", "description": "MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles." }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "Gareis-Mason syndrome", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "MASA syndrome", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "X-linked complicated hereditary spastic paraplegia type 1", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "X-linked corpus callosum agenesis", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "X-linked spastic paraplegia 1", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "hereditary spastic paraplegia 1", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "masa syndrome, X-linked recessive", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "spastic paraplegia, X-linked", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "CRASH syndrome", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "CRASH syndrome, X-linked recessive", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "Clasped thumb and intellectual disability", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "Clasped thumb and mental retardation", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "adducted thumb with intellectual disability", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "adducted thumb with mental retardation", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "intellectual disability aphasia shuffling Gait adducted thumbs (MASA)", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "intellectual disability, aphasia, shuffling Gait, and adducted thumbs", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "mental retardation aphasia shuffling Gait adducted thumbs (MASA)", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "mental retardation, aphasia, shuffling Gait, and adducted thumbs", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "spastic paraplegia 1", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "spastic paraplegia 1, X-linked", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "thumb congenital clasped with intellectual disability", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "thumb congenital clasped with mental retardation", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "thumb, congenital Clasped, with intellectual disability", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "thumb, congenital Clasped, with mental retardation", "description": "" }, { "id": "MIM:303350", "resource": "MIM", "url": "https://www.omim.org/entry/303350", "name": "MASA syndrome", 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"database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR21212:SF0", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR21212:SF0", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF06775", "url": "http://pfam.xfam.org/family/PF06775", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_Q9Z2E9", "url": "http://purl.obolibrary.org/obo/PR_Q9Z2E9", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001129536", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129536", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A0R4J225", "url": "https://www.uniprot.org/uniprot/A0A0R4J225", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0R4J225-1", "url": "https://www.uniprot.org/uniprot/A0A0R4J225-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E0CXJ2", "url": "https://www.uniprot.org/uniprot/E0CXJ2", "database": "UniProtKB", 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"tr|F6US45-1|F6US45_MOUSE Computationally mapped isoform of Seipin OS=Mus musculus OX=10090 GN=Bscl2 PE=1 SV=1 CANONICAL=Q9Z2E9-1" }, "locus": { "chromosome": "19", "start_pos": 8825304, "end_pos": 8823554, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000159653.2", "url": "https://www.ensembl.org/id/ENSMUST00000159653.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000123920.2", "url": "https://www.ensembl.org/id/ENSMUSP00000123920.2" } ] } }, { "isoform_ac": "Q9Z2E9-1", "url": "", "sequence": { "sequence": "MVNDPPVPALLWAQEVGHVLAGRARRLMLQFGVLFCTILLLLWVSVFLYGSFYYSYMPTVSHLSPVHFHYRTDCDSSTASLCSFPVANVSLAKSGRDRVLMYGQPYRVTLELELPESPVNQDLGMFLVTVSCYTRGGRIISTSSRSVMLHYRSQLLQVLDTLLFSSLLLFGFAEQKQLLEVELYSDYRENSYVPTTGAIIEIHSKRIQMYGAYLRIHAHFTGLRYLLYNFPMTCAFVGVASNFTFLSVIVLFSYMQWVWGAVWPRHRFSLQVNIRQRDNSHHGAPRRISRHQPGQESTQQSDVTEDGESPEDPSGTEGQLSEEEKPEKRPLNGEEEQEPEASDGSWEDAALLTEANPPTSASASALAPETLGSLRQRPTCSSS", "length": 383, "header": "sp|Q9Z2E9-1|BSCL2_MOUSE Isoform 1 of Seipin OS=Mus musculus OX=10090 GN=Bscl2 PE=1 SV=2 CANONICAL=Q9Z2E9-1" }, "locus": { "chromosome": "19", "start_pos": 8825946, "end_pos": 8818577, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000086058", "url": "https://www.ensembl.org/id/ENSMUST00000086058" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000083224", "url": "https://www.ensembl.org/id/ENSMUSP00000083224" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 242, "start_aa": "Asn", "end_pos": 242, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn242", "evidence": [ { "id": "Q9Z2E9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Z2E9#ptm_processing" } ] }, { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 88, "start_aa": "Asn", "end_pos": 88, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn88", "evidence": [ { "id": "2691", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2691" }, { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 88, "start_aa": "Asn", "end_pos": 88, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn88", "evidence": [ { "id": "2691", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2691" }, { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 88, "start_aa": "Asn", "end_pos": 88, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn88", "evidence": [ { "id": "2691", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2691" }, { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 88, "start_aa": "Asn", "end_pos": 88, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn88", "evidence": [ { "id": "Q9Z2E9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Z2E9#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 289, "end_pos": 289, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2E9", "url": "https://www.uniprot.org/uniprot/Q9Z2E9" } ], "site_lbl": "Ser289" }, { "start_pos": 342, "end_pos": 342, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2E9", "url": "https://www.uniprot.org/uniprot/Q9Z2E9" } ], "site_lbl": "Ser342" }, { "start_pos": 345, "end_pos": 345, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2E9", "url": "https://www.uniprot.org/uniprot/Q9Z2E9" } ], "site_lbl": "Ser345" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Growth suppression of Escherichia coli by induction of expression of mammalian genes with transmembrane or ATPase domains.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2000", "authors": "Ohta M., Inoue S., Sano H.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2E9", "url": "https://www.uniprot.org/uniprot/Q9Z2E9" } ], "reference": [ { "type": "PubMed", "id": "10679242", "url": "https://glygen.org/publication/PubMed/10679242" } ] }, { "title": "The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation.", "journal": "Diabetes", "date": "2008", "authors": "Grimsey N., Gray S.L., O'Rahilly S., Rochford J.J., Semple R.K., Virtue S., Dalla Nora E., Payne V.A., Tuthill A.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2E9", "url": "https://www.uniprot.org/uniprot/Q9Z2E9" } ], "reference": [ { "type": "PubMed", "id": "18458148", "url": "https://glygen.org/publication/PubMed/18458148" } ] }, { "title": "The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin plays a key role in adipocyte differentiation.", "journal": "Endocrinology", "date": "2009", "authors": "Chan L., Chen W., Chang B.H., Yechoor V.K., Li M.V., March K.L.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2E9", "url": "https://www.uniprot.org/uniprot/Q9Z2E9" } ], "reference": [ { "type": "PubMed", "id": "19574402", "url": "https://glygen.org/publication/PubMed/19574402" } ] }, { "title": "Seipin ablation in mice results in severe generalized lipodystrophy.", "journal": "Hum. Mol. Genet.", "date": "2011", "authors": "Liu G., Liu Y., Wang Y., Yang H., Peng X., Zhao L., Xu G., Tang Y., Cui X., Deng J., Ju S.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2E9", "url": "https://www.uniprot.org/uniprot/Q9Z2E9" } ], "reference": [ { "type": "PubMed", "id": "21551454", "url": "https://glygen.org/publication/PubMed/21551454" } ] }, { "title": "Berardinelli-seip congenital lipodystrophy 2/seipin is a cell-autonomous regulator of lipolysis essential for adipocyte differentiation.", "journal": "Mol. Cell. Biol.", "date": "2012", "authors": "Chan L., Li L., Yang Y., Chen W., Chang B., Mancini M.A., Saha P., Hartig S.M., Reddy V.T., Yechoor V.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2E9", "url": "https://www.uniprot.org/uniprot/Q9Z2E9" } ], "reference": [ { "type": "PubMed", "id": "22269949", "url": "https://glygen.org/publication/PubMed/22269949" } ] }, { "title": "Neuroanatomical characterisation of the expression of the lipodystrophy and motor-neuropathy gene Bscl2 in adult mouse brain.", "journal": "PLoS ONE", "date": "2012", "authors": "Rochford J.J., Ito D., Heisler L.K., Chan W.S., Dennis R.J., Garfield A.S.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2E9", "url": "https://www.uniprot.org/uniprot/Q9Z2E9" } ], "reference": [ { "type": "PubMed", "id": "23049863", "url": "https://glygen.org/publication/PubMed/23049863" } ] }, { "title": "Capturing site-specific heterogeneity with large-scale N-glycoproteome analysis.", "journal": "Nature communications", "date": "2019", "authors": "Riley NM, Hebert AS, Westphall MS, Coon JJ", "evidence": [ { "database": "GlyConnect", "id": "2691", "url": "https://glyconnect.expasy.org/browser/proteins/2691" } ], "reference": [ { "type": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" } ] }, { "title": "Seipin localizes at endoplasmic-reticulum-mitochondria contact sites to control mitochondrial calcium import and metabolism in adipocytes.", "journal": "Cell reports", "date": "2022", "authors": "Combot Y, Salo VT, Chadeuf G, Holtta M, Ven K, Pulli I, Ducheix S, Pecqueur C, Renoult O, Lak B, Li S, Karhinen L, Belevich I, Le May C, Rieusset J, Le Lay S, Croyal M, Tayeb KS, Vihinen H, Jokitalo E, Tornquist K, Vigouroux C, Cariou B, Magre J, Larhlimi A, Ikonen E, Prieur X", "evidence": [ { "database": "RefSeq", "id": "NP_001129536", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129536" } ], "reference": [ { "type": "PubMed", "id": "35021082", "url": "https://glygen.org/publication/PubMed/35021082" } ] }, { "title": "BSCL2/Seipin deficiency in hearts causes cardiac energy deficit and dysfunction via inducing excessive lipid catabolism.", "journal": "Clinical and translational medicine", "date": "2022", "authors": "Zhou H, Li J, Su H, Li J, Lydic TA, Young ME, Chen W", "evidence": [ { "database": "RefSeq", "id": "NP_001129536", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129536" } ], "reference": [ { "type": "PubMed", "id": "35384404", "url": "https://glygen.org/publication/PubMed/35384404" } ] }, { "title": "Mice deficient in ER protein seipin have reduced adrenal cholesteryl ester lipid droplet formation and utilization.", "journal": "Journal of lipid research", "date": "2022-12", "authors": "Shen Wen-Jun, Cortez Yuan, Singh Amar, Chen Weiqin, Azhar Salman, Kraemer Fredric B", "evidence": [ { "database": "RefSeq", "id": "NP_001129536", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129536" } ], "reference": [ { "type": 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