{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q96G97","secondaryAccessions":["G3XAE4","Q567S1","Q96SV1","Q9BSQ0"],"uniProtkbId":"BSCL2_HUMAN","entryAudit":{"firstPublicDate":"2005-04-26","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2009-11-24","entryVersion":185,"sequenceVersion":3},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"16574104"}],"value":"Seipin"}},"alternativeNames":[{"fullName":{"value":"Bernardinelli-Seip congenital lipodystrophy type 2 protein"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"18458148"},{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:15832"}],"value":"BSCL2"}}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9Z2E9"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19278620"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21533227"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27564575"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27879284"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30293840"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30970241"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31178403"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31708432"}],"value":"Mediates the formation of lipid droplets during the differentiation and maturation of adipocytes (PubMed:19278620, PubMed:21533227, PubMed:27564575, PubMed:30293840, PubMed:31708432). Together with LDAF1, defines the sites of lipid droplet formation in the endoplasmic reticulum and promotes the aggregation of triacylglycerol molecules to form the core of a lipid droplet (nucleation) in the endoplasmic reticulum and drive budding of lipid droplets into the cytoplasm (PubMed:31708432). BSCL2 and LDAF1 also regulate protein and lipid delivery from the endoplasmic reticulum into growing lipid droplets (PubMed:27879284, PubMed:31178403). During early adipogenesis, BSCL2 inhibits GPAT3 and GPAT4 activity, thereby preventing phosphatidic acid accumulation that could antagonize PPARG and block differentiation (By similarity). This inhibition is then relieved by ADIG during adipocyte maturation, allowing expansion of lipid droplets (By similarity). Regulates the maturation of ZFYVE1-positive nascent lipid droplets and the function of the RAB18-ZFYVE1 complex in mediating the formation of endoplasmic reticulum-lipid droplet contacts (PubMed:30970241). Binds anionic phospholipids including phosphatidic acid (PubMed:30293840)"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9Z2E9"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30293840"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30901948"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30970241"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31708432"}],"value":"Undecamer (an oligomer having 11 subunits) and dodecamer (an oligomer having 12 subunits) (By similarity). Undecamer; formation of an undecameric complex is essential for its function in lipid droplet formation (PubMed:30293840). Dodecamer with ADIG; forms a dodecameric complex with ADIG when adipocytes have differentiated and are undergoing maturation, antagonizing the activity of BSCL2 (By similarity). Interacts with LDAF1 to form an oligomeric complex (PubMed:30901948, PubMed:31708432). Interacts with RAB18 (PubMed:30970241). Interacts with ZFYVE1 in a RAB18-dependent manner (PubMed:30970241)"}],"commentType":"SUBUNIT"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30901948"}],"value":"Interacts with LDAF1 to form an oligomeric complex"}],"commentType":"SUBUNIT","molecule":"Isoform 3"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q96G97","intActId":"EBI-741806"},"interactantTwo":{"uniProtKBAccession":"Q9BZL3","geneName":"SMIM3","intActId":"EBI-741850"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96G97","intActId":"EBI-741806"},"interactantTwo":{"uniProtKBAccession":"Q96HH6","geneName":"TMEM19","intActId":"EBI-741829"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96G97-4","intActId":"EBI-10178113"},"interactantTwo":{"uniProtKBAccession":"P54252","geneName":"ATXN3","intActId":"EBI-946046"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96G97-4","intActId":"EBI-10178113"},"interactantTwo":{"uniProtKBAccession":"Q9HC96","geneName":"CAPN10","intActId":"EBI-3915761"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96G97-4","intActId":"EBI-10178113"},"interactantTwo":{"uniProtKBAccession":"Q9UNS2","geneName":"COPS3","intActId":"EBI-350590"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96G97-4","intActId":"EBI-10178113"},"interactantTwo":{"uniProtKBAccession":"P42857","geneName":"NSG1","intActId":"EBI-6380741"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96G97-4","intActId":"EBI-10178113"},"interactantTwo":{"uniProtKBAccession":"Q96CV9","geneName":"OPTN","intActId":"EBI-748974"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96G97-4","intActId":"EBI-10178113"},"interactantTwo":{"uniProtKBAccession":"P16284","geneName":"PECAM1","intActId":"EBI-716404"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96G97-4","intActId":"EBI-10178113"},"interactantTwo":{"uniProtKBAccession":"Q9H8W4","geneName":"PLEKHF2","intActId":"EBI-742388"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96G97-4","intActId":"EBI-10178113"},"interactantTwo":{"uniProtKBAccession":"Q9GZS3","geneName":"SKIC8","intActId":"EBI-358545"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96G97-4","intActId":"EBI-10178113"},"interactantTwo":{"uniProtKBAccession":"Q9BZL3","geneName":"SMIM3","intActId":"EBI-741850"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96G97-4","intActId":"EBI-10178113"},"interactantTwo":{"uniProtKBAccession":"H3BR10","geneName":"SMLR1","intActId":"EBI-10178109"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96G97-4","intActId":"EBI-10178113"},"interactantTwo":{"uniProtKBAccession":"Q96HH6","geneName":"TMEM19","intActId":"EBI-741829"},"numberOfExperiments":4,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27879284"}],"value":"Localizes at endoplasmic reticulum-lipid droplets (ER-LD) contact sites"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14981520"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16574104"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18458148"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27879284"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30901948"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31708432"}],"value":"Endoplasmic reticulum membrane","id":"SL-0097"},"topology":{"evidences":[{"evidenceCode":"ECO:0000255"}],"value":"Multi-pass membrane protein","id":"SL-9909"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27879284"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30970241"}],"value":"Lipid droplet","id":"SL-0154"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"isoformIds":["Q96G97-2"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"isoformIds":["Q96G97-3"],"sequenceIds":["VSP_051726","VSP_051727"],"isoformSequenceStatus":"Described"},{"name":{"value":"3"},"isoformIds":["Q96G97-4"],"sequenceIds":["VSP_044545"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11479539"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18458148"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18585921"}],"value":"Expressed in motor neurons in the spinal cord and cortical neurons in the frontal lobe (at protein level). Highly expressed in brain, testis and adipose tissue"}],"commentType":"TISSUE SPECIFICITY"},{"commentType":"DISEASE","disease":{"diseaseId":"Lipodystrophy, congenital generalized, 2","diseaseAccession":"DI-00355","acronym":"CGL2","description":"A form of congenital generalized lipodystrophy, a metabolic disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. Inheritance is autosomal recessive.","diseaseCrossReference":{"database":"MIM","id":"269700"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11479539"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27879284"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30901948"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Spastic paraplegia 17, autosomal dominant","diseaseAccession":"DI-01050","acronym":"SPG17","description":"A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG17 is characterized by prominent amyotrophy of the hand muscles, the presence of mild to severe pyramidal tract signs and spastic paraplegia. SPG17 is a motor neuron disease overlapping with distal spinal muscular atrophy type 5.","diseaseCrossReference":{"database":"MIM","id":"270685"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14981520"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17663003"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18585921"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24604904"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Neuronopathy, distal hereditary motor, autosomal dominant 13","diseaseAccession":"DI-05984","acronym":"HMND13","description":"A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. HMND13 is characterized by distal muscular atrophy primarily affecting the upper limbs. Lower limb involvement may occur at the same time or later. Clinical features are highly variable even within families, and include poor fine hand motor skills, difficulty walking, foot deformities, spasticity and hyperreflexia. Some HMND13 patients show axonal peripheral neuropathy and distal sensory impairment. HMND13 inheritance is autosomal dominant with incomplete penetrance.","diseaseCrossReference":{"database":"MIM","id":"619112"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14981520"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17663003"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Encephalopathy, progressive, with or without lipodystrophy","diseaseAccession":"DI-04174","acronym":"PELD","description":"A neurodegenerative disease characterized by developmental regression of motor and cognitive skills in the first years of life, often leading to death in the first decade, hyperactive behavior, seizures, tremor and ataxic gait. Patients may show a mild or typical lipodystrophic appearance.","diseaseCrossReference":{"database":"MIM","id":"615924"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23564749"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the seipin family"}],"commentType":"SIMILARITY"}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":398,"modifier":"EXACT"}},"description":"Seipin","featureId":"PRO_0000191679"},{"type":"Topological domain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":6,"modifier":"EXACT"}},"description":"Cytoplasmic","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9Z2E9"}]},{"type":"Transmembrane","location":{"start":{"value":7,"modifier":"EXACT"},"end":{"value":56,"modifier":"EXACT"}},"description":"Helical","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9Z2E9"}]},{"type":"Topological domain","location":{"start":{"value":57,"modifier":"EXACT"},"end":{"value":221,"modifier":"EXACT"}},"description":"Lumenal","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9Z2E9"}]},{"type":"Transmembrane","location":{"start":{"value":222,"modifier":"EXACT"},"end":{"value":261,"modifier":"EXACT"}},"description":"Helical","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9Z2E9"}]},{"type":"Topological domain","location":{"start":{"value":262,"modifier":"EXACT"},"end":{"value":398,"modifier":"EXACT"}},"description":"Cytoplasmic","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9Z2E9"}]},{"type":"Region","location":{"start":{"value":154,"modifier":"EXACT"},"end":{"value":170,"modifier":"EXACT"}},"description":"Hydrophobic helix","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9Z2E9"}]},{"type":"Region","location":{"start":{"value":281,"modifier":"EXACT"},"end":{"value":398,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Modified residue","location":{"start":{"value":289,"modifier":"EXACT"},"end":{"value":289,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"24275569"}]},{"type":"Modified residue","location":{"start":{"value":346,"modifier":"EXACT"},"end":{"value":346,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q5FVJ6"}]},{"type":"Modified residue","location":{"start":{"value":351,"modifier":"EXACT"},"end":{"value":351,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q5FVJ6"}]},{"type":"Modified residue","location":{"start":{"value":372,"modifier":"EXACT"},"end":{"value":372,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"24275569"}]},{"type":"Glycosylation","location":{"start":{"value":88,"modifier":"EXACT"},"end":{"value":88,"modifier":"EXACT"}},"description":"N-linked (GlcNAc...) asparagine","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14981520"}],"featureId":""},{"type":"Disulfide bond","location":{"start":{"value":74,"modifier":"EXACT"},"end":{"value":82,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9Z2E9"}]},{"type":"Alternative sequence","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":1,"modifier":"EXACT"}},"description":"in isoform 3","evidences":[{"evidenceCode":"ECO:0000305"}],"featureId":"VSP_044545","alternativeSequence":{"originalSequence":"M","alternativeSequences":["MSTEKVDQKEEAGEKEVCGDQIKGPDKEEEPPAAASHGQGWRPGGRAARNARPEPGARHPALPAM"]}},{"type":"Alternative sequence","location":{"start":{"value":225,"modifier":"EXACT"},"end":{"value":287,"modifier":"EXACT"}},"description":"in isoform 2","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"14702039"}],"featureId":"VSP_051726","alternativeSequence":{"originalSequence":"YLLYNFPMTCAFIGVASNFTFLSVIVLFSYMQWVWGGIWPRHRFSLQVNIRKRDNSRKEVQRR","alternativeSequences":["LTSEKETIPGRKSNEGSLLISQGLKARRSQLRNQMLQRMVRALKIPQGQRVSCPRRRNQISSP"]}},{"type":"Alternative sequence","location":{"start":{"value":288,"modifier":"EXACT"},"end":{"value":398,"modifier":"EXACT"}},"description":"in isoform 2","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"14702039"}],"featureId":"VSP_051727","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":88,"modifier":"EXACT"},"end":{"value":88,"modifier":"EXACT"}},"description":"in SPG17 and HMND13; 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