Mus musculus Protein: Bscl2
Summary
InnateDB Protein IDBP-619912.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Bscl2
Protein Name Bernardinelli-Seip congenital lipodystrophy 2 homolog (human)
Synonyms 2900097C17Rik; AI046355; Gng3lg;
Species Mus musculus
Ensembl Protein ENSMUSP00000127685
InnateDB Gene IDBG-141270 (Bscl2)
Protein Structure
UniProt Annotation
Function Is a regulator of lipid catabolism essential for adipocyte differentiation. Necessary for correct lipid storage and lipid droplets maintenance; may play a tissue-autonomous role in controlling lipid storage in adipocytes and in preventing ectopic lipid droplet formation in non-adipose tissues. May also be involved in the central regulation of energy homeostasis. {ECO:0000269PubMed:18458148, ECO:0000269PubMed:19574402, ECO:0000269PubMed:21551454, ECO:0000269PubMed:22269949}.
Subcellular Localization Endoplasmic reticulum membrane {ECO:0000269PubMed:19574402}; Multi-pass membrane protein {ECO:0000269PubMed:19574402}.
Disease Associations
Tissue Specificity Expressed in the paraventricular nucleus of the hypothalamus (PVN) and brainstem dorsal vagal complex (DVC) in oxytocin and catecholaminergic neurons (at protein level). Highest expression detected in subcutaneous and epididymal white adipose tissue, brown adipose tissue and testis. Also expressed in brain, skeletal muscle and adrenal gland, with lower levels detected in liver, heart, kidney, spleen, lung and small intestine. In brain, detected in piriform cortex, olfactory tubercle, islands of Calleja, lateral septal nucleus, medial septal nucleus, nucleus of the vertical limb of the diagonal band, nucleus of the horizontal limb of the diagonal band, preoptic area, paraventricular thalamic nucleus, lateral globus pallidus, supraoptic nucleus, suprachiasmatic nucleus, subfornical organ, paraventricular nucleus of the hypothalamus, zona incerta, dorsomedial nucleus of the hypothalamus, ventromedial nucleus of the hypothalamus, arcuate nucleus of the hypothalamus, basomedial amygdaloid nucleus, medial amygdaloid nucleus, medial habenular, pyramidal cell layer of the hippocampus, granular layer of the dentate gyrus, posterior hypothalamus, supramammilliary nucleus, premammillary nucleus, nucleus of Darkschewitsch, Edinger-Westphal nucleus, ventral tegmental area, dorsal raphe nucleus, periaqueductal gray, median raphe nucleus, lateral parabrachial nucleus, dorsal tegmental nucleus, laterodorsal tegmental nucleus, locus coeruleus, Barrington's nucleus, medial vestibular nucleus, ambiguous nucleus, dorsal vagal complex and hypoglossal nucleus. {ECO:0000269PubMed:18458148, ECO:0000269PubMed:19574402, ECO:0000269PubMed:23049863, ECO:0000269PubMed:9790771}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Predicted by orthology
Total 5 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
Biological Process
GO:0016042 lipid catabolic process
GO:0019915 lipid storage
GO:0034389 lipid particle organization
GO:0045444 fat cell differentiation
GO:0050995 negative regulation of lipid catabolic process
Cellular Component
GO:0030176 integral component of endoplasmic reticulum membrane
Protein Structure and Domains
PDB ID MGI:1298392
InterPro IPR009617 Adipose-regulatory protein, Seipin
PFAM PF06775
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9Z2E9
PhosphoSite PhosphoSite-Q9Z2E9
TrEMBL
UniProt Splice Variant
Entrez Gene 14705
UniGene Mm.345134
RefSeq NP_032170
MGI ID
MGI Symbol Bscl2
OMIM
CCDS CCDS29551
HPRD
IMGT
EMBL AB030196 AB041588 AF069954 AK151606 AK155753 AK158901 AK170183 BC043023 BC061689
GenPept AAC77923 AAH43023 AAH61689 BAA92759 BAA95071 BAE30545 BAE33418 BAE34722 BAE41621