UniProtKB - Q9Z2E9 (BSCL2_MOUSE)
Protein
Seipin
Gene
Bscl2
Organism
Mus musculus (Mouse)
Status
Functioni
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 TMEM159/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).By similarity4 Publications
GO - Molecular functioni
- phospholipid binding Source: MGI
GO - Biological processi
- adipose tissue development Source: MGI
- cytosolic lipolysis Source: MGI
- fat cell differentiation Source: UniProtKB
- lipid droplet formation Source: MGI
- lipid droplet organization Source: MGI
- lipid storage Source: MGI
- negative regulation of catalytic activity Source: MGI
- negative regulation of lipid catabolic process Source: UniProtKB
- positive regulation of cold-induced thermogenesis Source: YuBioLab
- regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction Source: MGI
- regulation of phosphatidic acid biosynthetic process Source: MGI
- spermatid differentiation Source: MGI
Keywordsi
Biological process | Lipid degradation, Lipid metabolism |
Names & Taxonomyi
Protein namesi | Recommended name: SeipinAlternative name(s): Bernardinelli-Seip congenital lipodystrophy type 2 protein homolog |
Gene namesi | ORF Names:MNCb-2630 |
Organismi | Mus musculus (Mouse) |
Taxonomic identifieri | 10090 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Myomorpha › Muroidea › Muridae › Murinae › Mus › Mus |
Proteomesi |
|
Organism-specific databases
MGIi | MGI:1298392, Bscl2 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein Sequence analysis
Other locations
- Lipid droplet By similarity
Note: Localizes at endoplasmic reticulum-lipid droplets (ER-LD) contact sites.By similarity
Cytosol
- cytosol Source: GOC
Endoplasmic reticulum
- endoplasmic reticulum Source: MGI
- endoplasmic reticulum membrane Source: UniProtKB
- integral component of endoplasmic reticulum membrane Source: UniProtKB
Other locations
- lipid droplet Source: MGI
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 27 | CytoplasmicSequence analysisAdd BLAST | 27 | |
Transmembranei | 28 – 48 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 49 – 242 | LumenalSequence analysisAdd BLAST | 194 | |
Transmembranei | 243 – 263 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 264 – 383 | CytoplasmicSequence analysisAdd BLAST | 120 |
Keywords - Cellular componenti
Endoplasmic reticulum, Lipid droplet, MembranePathology & Biotechi
Disruption phenotypei
Mutant mice display increased early postnatal mortality rate, reduction of total body fat mass, nearly total absence of gonadal fat and great reduction in subcutaneous fat. Mice have enlarged visceral organs, markedly steatotic liver, decreased adipocyte size and number, and display decreased levels of plasma adiponectin and leptin, glucose intolerance and insulin resistance but not hypertriglyceridemia.2 Publications
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000191680 | 1 – 383 | SeipinAdd BLAST | 383 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 88 | N-linked (GlcNAc...) asparagineBy similarity | 1 | |
Glycosylationi | 242 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 289 | PhosphoserineBy similarity | 1 | |
Modified residuei | 342 | PhosphoserineBy similarity | 1 | |
Modified residuei | 345 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
Glycoprotein, PhosphoproteinProteomic databases
EPDi | Q9Z2E9 |
jPOSTi | Q9Z2E9 |
MaxQBi | Q9Z2E9 |
PaxDbi | Q9Z2E9 |
PeptideAtlasi | Q9Z2E9 |
PRIDEi | Q9Z2E9 |
PTM databases
GlyConnecti | 2691, 3 N-Linked glycans (1 site) |
GlyGeni | Q9Z2E9, 2 sites |
iPTMneti | Q9Z2E9 |
PhosphoSitePlusi | Q9Z2E9 |
Expressioni
Tissue specificityi
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.4 Publications
Inductioni
Up-regulated during in vitro adipocyte differentiation.3 Publications
Gene expression databases
Bgeei | ENSMUSG00000071657, Expressed in mammary gland and 289 other tissues |
ExpressionAtlasi | Q9Z2E9, baseline and differential |
Genevisiblei | Q9Z2E9, MM |
Interactioni
Subunit structurei
Undecamer (an oligomer having eleven subunits) (By similarity). Oligomerization is important for its function in lipid droplet formation (By similarity).
Interacts with TMEM159/LDAF1 to form an oligomeric complex (By similarity).
Interacts with RAB18 (By similarity).
Interacts with ZFYVE1 in a RAB18-dependent manner (By similarity).
By similarityProtein-protein interaction databases
BioGRIDi | 199989, 1 interactor |
STRINGi | 10090.ENSMUSP00000127685 |
Miscellaneous databases
RNActi | Q9Z2E9, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the seipin family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG4200, Eukaryota |
GeneTreei | ENSGT00390000011639 |
HOGENOMi | CLU_049458_1_1_1 |
InParanoidi | Q9Z2E9 |
OMAi | IWPRHRL |
OrthoDBi | 1390748at2759 |
TreeFami | TF314000 |
Family and domain databases
InterProi | View protein in InterPro IPR009617, Seipin |
PANTHERi | PTHR21212, PTHR21212, 1 hit |
Pfami | View protein in Pfam PF06775, Seipin, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All
Q9Z2E9-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MVNDPPVPAL LWAQEVGHVL AGRARRLMLQ FGVLFCTILL LLWVSVFLYG
60 70 80 90 100
SFYYSYMPTV SHLSPVHFHY RTDCDSSTAS LCSFPVANVS LAKSGRDRVL
110 120 130 140 150
MYGQPYRVTL ELELPESPVN QDLGMFLVTV SCYTRGGRII STSSRSVMLH
160 170 180 190 200
YRSQLLQVLD TLLFSSLLLF GFAEQKQLLE VELYSDYREN SYVPTTGAII
210 220 230 240 250
EIHSKRIQMY GAYLRIHAHF TGLRYLLYNF PMTCAFVGVA SNFTFLSVIV
260 270 280 290 300
LFSYMQWVWG AVWPRHRFSL QVNIRQRDNS HHGAPRRISR HQPGQESTQQ
310 320 330 340 350
SDVTEDGESP EDPSGTEGQL SEEEKPEKRP LNGEEEQEPE ASDGSWEDAA
360 370 380
LLTEANPPTS ASASALAPET LGSLRQRPTC SSS
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE0CXJ2 | E0CXJ2_MOUSE | Seipin | Bscl2 | 213 | Annotation score: | ||
F6US45 | F6US45_MOUSE | Seipin | Bscl2 | 134 | Annotation score: | ||
A0A0R4J225 | A0A0R4J225_MOUSE | Seipin | Bscl2 | 443 | Annotation score: |
Sequence cautioni
The sequence AAH61689 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence BAA95071 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAE34722 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 341 | A → V in BAA92759 (PubMed:10679242).Curated | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF069954 mRNA Translation: AAC77923.2 AB030196 mRNA Translation: BAA92759.1 AB041588 mRNA Translation: BAA95071.1 Different initiation. AK151606 mRNA Translation: BAE30545.1 AK155753 mRNA Translation: BAE33418.1 AK158901 mRNA Translation: BAE34722.1 Different initiation. AK170183 mRNA Translation: BAE41621.1 BC043023 mRNA Translation: AAH43023.2 BC061689 mRNA Translation: AAH61689.1 Different initiation. |
CCDSi | CCDS70931.1 |
RefSeqi | NP_001129536.1, NM_001136064.3 NP_001277752.1, NM_001290823.1 NP_032170.3, NM_008144.5 XP_006526754.1, XM_006526691.1 |
Genome annotation databases
Ensembli | ENSMUST00000086058; ENSMUSP00000083224; ENSMUSG00000071657 ENSMUST00000159634; ENSMUSP00000125422; ENSMUSG00000071657 ENSMUST00000160556; ENSMUSP00000123976; ENSMUSG00000071657 |
GeneIDi | 14705 |
KEGGi | mmu:14705 |
UCSCi | uc008gni.2, mouse |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF069954 mRNA Translation: AAC77923.2 AB030196 mRNA Translation: BAA92759.1 AB041588 mRNA Translation: BAA95071.1 Different initiation. AK151606 mRNA Translation: BAE30545.1 AK155753 mRNA Translation: BAE33418.1 AK158901 mRNA Translation: BAE34722.1 Different initiation. AK170183 mRNA Translation: BAE41621.1 BC043023 mRNA Translation: AAH43023.2 BC061689 mRNA Translation: AAH61689.1 Different initiation. |
CCDSi | CCDS70931.1 |
RefSeqi | NP_001129536.1, NM_001136064.3 NP_001277752.1, NM_001290823.1 NP_032170.3, NM_008144.5 XP_006526754.1, XM_006526691.1 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 199989, 1 interactor |
STRINGi | 10090.ENSMUSP00000127685 |
PTM databases
GlyConnecti | 2691, 3 N-Linked glycans (1 site) |
GlyGeni | Q9Z2E9, 2 sites |
iPTMneti | Q9Z2E9 |
PhosphoSitePlusi | Q9Z2E9 |
Proteomic databases
EPDi | Q9Z2E9 |
jPOSTi | Q9Z2E9 |
MaxQBi | Q9Z2E9 |
PaxDbi | Q9Z2E9 |
PeptideAtlasi | Q9Z2E9 |
PRIDEi | Q9Z2E9 |
Protocols and materials databases
Antibodypediai | 28672, 167 antibodies |
Genome annotation databases
Ensembli | ENSMUST00000086058; ENSMUSP00000083224; ENSMUSG00000071657 ENSMUST00000159634; ENSMUSP00000125422; ENSMUSG00000071657 ENSMUST00000160556; ENSMUSP00000123976; ENSMUSG00000071657 |
GeneIDi | 14705 |
KEGGi | mmu:14705 |
UCSCi | uc008gni.2, mouse |
Organism-specific databases
CTDi | 26580 |
MGIi | MGI:1298392, Bscl2 |
Phylogenomic databases
eggNOGi | KOG4200, Eukaryota |
GeneTreei | ENSGT00390000011639 |
HOGENOMi | CLU_049458_1_1_1 |
InParanoidi | Q9Z2E9 |
OMAi | IWPRHRL |
OrthoDBi | 1390748at2759 |
TreeFami | TF314000 |
Miscellaneous databases
BioGRID-ORCSi | 14705, 2 hits in 17 CRISPR screens |
ChiTaRSi | Bscl2, mouse |
PROi | PR:Q9Z2E9 |
RNActi | Q9Z2E9, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSMUSG00000071657, Expressed in mammary gland and 289 other tissues |
ExpressionAtlasi | Q9Z2E9, baseline and differential |
Genevisiblei | Q9Z2E9, MM |
Family and domain databases
InterProi | View protein in InterPro IPR009617, Seipin |
PANTHERi | PTHR21212, PTHR21212, 1 hit |
Pfami | View protein in Pfam PF06775, Seipin, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | BSCL2_MOUSE | |
Accessioni | Q9Z2E9Primary (citable) accession number: Q9Z2E9 Secondary accession number(s): Q3TY41 Q9JMF1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 26, 2005 |
Last sequence update: | October 1, 2000 | |
Last modified: | December 2, 2020 | |
This is version 123 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- MGD cross-references
Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families