UniProtKB - Q96G97 (BSCL2_HUMAN)
Seipin
BSCL2
Functioni
GO - Molecular functioni
- phospholipid binding Source: UniProtKB
GO - Biological processi
- fat cell differentiation Source: UniProtKB
- lipid catabolic process Source: UniProtKB-KW
- lipid droplet formation Source: UniProtKB
- lipid droplet organization Source: UniProtKB
- lipid storage Source: UniProtKB
- negative regulation of lipid catabolic process Source: UniProtKB
- positive regulation of cold-induced thermogenesis Source: YuBioLab
Keywordsi
Biological process | Lipid degradation, Lipid metabolism |
Enzyme and pathway databases
PathwayCommonsi | Q96G97 |
Protein family/group databases
TCDBi | 1.R.1.1.1, the membrane contact site (mcs) family |
Names & Taxonomyi
Protein namesi | Recommended name: SeipinAlternative name(s): Bernardinelli-Seip congenital lipodystrophy type 2 protein |
Gene namesi | Name:BSCL2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000168000.14 |
HGNCi | HGNC:15832, BSCL2 |
MIMi | 606158, gene |
neXtProti | NX_Q96G97 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane 6 Publications; Multi-pass membrane protein Sequence analysis
Other locations
- Lipid droplet 2 Publications
Note: Localizes at endoplasmic reticulum-lipid droplets (ER-LD) contact sites.1 Publication
Endoplasmic reticulum
- endoplasmic reticulum membrane Source: UniProtKB
- integral component of endoplasmic reticulum membrane Source: UniProtKB
Other locations
- lipid droplet Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 26 | CytoplasmicSequence analysisAdd BLAST | 26 | |
Transmembranei | 27 – 47 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 48 – 242 | LumenalSequence analysisAdd BLAST | 195 | |
Transmembranei | 243 – 263 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 264 – 398 | CytoplasmicSequence analysisAdd BLAST | 135 |
Keywords - Cellular componenti
Endoplasmic reticulum, Lipid droplet, MembranePathology & Biotechi
Involvement in diseasei
Congenital generalized lipodystrophy 2 (CGL2)3 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_022377 | 212 | A → P in CGL2; increases localization to nuclear envelope; no effect on its interaction with TMEM159/LDAF1; no rescue of aberrant lipid droplet formation in BSCL2-knockdown cells. 3 PublicationsCorresponds to variant dbSNP:rs137852971EnsemblClinVar. | 1 |
Spastic paraplegia 17, autosomal dominant (SPG17)4 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_022375 | 88 | N → S in SPG17 and HMN5A; does not affect protein subcellular location. 3 PublicationsCorresponds to variant dbSNP:rs137852972EnsemblClinVar. | 1 | |
Natural variantiVAR_022376 | 90 | S → L in SPG17 and HMN5A; also found in patients with hereditary motor and sensory neuropathy type 2; does not affect the function in lipid storage. 4 PublicationsCorresponds to variant dbSNP:rs137852973EnsemblClinVar. | 1 |
Neuronopathy, distal hereditary motor, 5A (HMN5A)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_022375 | 88 | N → S in SPG17 and HMN5A; does not affect protein subcellular location. 3 PublicationsCorresponds to variant dbSNP:rs137852972EnsemblClinVar. | 1 | |
Natural variantiVAR_022376 | 90 | S → L in SPG17 and HMN5A; also found in patients with hereditary motor and sensory neuropathy type 2; does not affect the function in lipid storage. 4 PublicationsCorresponds to variant dbSNP:rs137852973EnsemblClinVar. | 1 |
Encephalopathy, progressive, with or without lipodystrophy (PELD)1 Publication
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 67 | H → R: Loss of oligomerization and function in lipid droplet formation; when associated with A-70; A-151; D-156; D-169 and A-175. 1 Publication | 1 | |
Mutagenesisi | 70 | Y → A: Loss of oligomerization and function in lipid droplet formation; when associated with R-67; A-151; D-156; D-169 and A-175. 1 Publication | 1 | |
Mutagenesisi | 151 | Y → A: Loss of oligomerization and function in lipid droplet biogenesis; when associated with R-67; A-70; D-156; D-169 and A-175. 1 Publication | 1 | |
Mutagenesisi | 156 | L → D: Loss of oligomerization and function in lipid droplet formation; when associated with R-67; A-70; A-151; D-169 and A-175. 1 Publication | 1 | |
Mutagenesisi | 169 | L → D: Loss of oligomerization and function in lipid droplet formation; when associated with R-67; A-70; A-151; D-156 and A-175. 1 Publication | 1 | |
Mutagenesisi | 175 | Q → A: Loss of oligomerization and function in lipid droplet formation; when associated with R-67; A-70; A-151; D-156 and D-169. 1 Publication | 1 |
Keywords - Diseasei
Congenital generalized lipodystrophy, Diabetes mellitus, Disease mutation, Hereditary spastic paraplegia, Neurodegeneration, NeuropathyOrganism-specific databases
DisGeNETi | 26580 |
GeneReviewsi | BSCL2 |
MalaCardsi | BSCL2 |
MIMi | 269700, phenotype 270685, phenotype 600794, phenotype 615924, phenotype |
OpenTargetsi | ENSG00000168000 |
Orphaneti | 100998, Autosomal dominant spastic paraplegia type 17 528, Berardinelli-Seip congenital lipodystrophy 139536, Distal hereditary motor neuropathy type 5 363400, Severe neurodegenerative syndrome with lipodystrophy |
PharmGKBi | PA25432 |
Miscellaneous databases
Pharosi | Q96G97, Tbio |
Polymorphism and mutation databases
BioMutai | BSCL2 |
DMDMi | 269849705 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000191679 | 1 – 398 | SeipinAdd BLAST | 398 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 88 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 242 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 289 | PhosphoserineCombined sources | 1 | |
Modified residuei | 346 | PhosphoserineBy similarity | 1 | |
Modified residuei | 351 | PhosphoserineBy similarity | 1 | |
Modified residuei | 372 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
Glycoprotein, PhosphoproteinProteomic databases
EPDi | Q96G97 |
jPOSTi | Q96G97 |
MassIVEi | Q96G97 |
PaxDbi | Q96G97 |
PeptideAtlasi | Q96G97 |
PRIDEi | Q96G97 |
ProteomicsDBi | 33726 76606 [Q96G97-2] 76607 [Q96G97-3] |
PTM databases
CarbonylDBi | Q96G97 |
GlyConnecti | 1728, 7 N-Linked glycans (1 site) |
GlyGeni | Q96G97, 2 sites |
iPTMneti | Q96G97 |
PhosphoSitePlusi | Q96G97 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000168000, Expressed in testis and 122 other tissues |
ExpressionAtlasi | Q96G97, baseline and differential |
Genevisiblei | Q96G97, HS |
Organism-specific databases
HPAi | ENSG00000168000, Low tissue specificity |
Interactioni
Subunit structurei
Undecamer (an oligomer having eleven subunits) (PubMed:30293840). Oligomerization is important for its function in lipid droplet formation (PubMed:30293840).
Interacts with TMEM159/LDAF1 to form an oligomeric complex (PubMed:31708432, PubMed:30901948).
Interacts with RAB18 (PubMed:30970241).
Interacts with ZFYVE1 in a RAB18-dependent manner (PubMed:30970241).
4 PublicationsBinary interactionsi
Hide detailsQ96G97
With | #Exp. | IntAct |
---|---|---|
SMIM3 [Q9BZL3] | 4 | EBI-741806,EBI-741850 |
TMEM19 [Q96HH6] | 4 | EBI-741806,EBI-741829 |
Isoform 3 [Q96G97-4]
Protein-protein interaction databases
BioGRIDi | 117749, 80 interactors |
CORUMi | Q96G97 |
IntActi | Q96G97, 35 interactors |
MINTi | Q96G97 |
STRINGi | 9606.ENSP00000354032 |
Miscellaneous databases
RNActi | Q96G97, protein |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG4200, Eukaryota |
GeneTreei | ENSGT00390000011639 |
HOGENOMi | CLU_049458_1_1_1 |
InParanoidi | Q96G97 |
PhylomeDBi | Q96G97 |
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 |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 14 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MVNDPPVPAL LWAQEVGQVL AGRARRLLLQ FGVLFCTILL LLWVSVFLYG
60 70 80 90 100
SFYYSYMPTV SHLSPVHFYY RTDCDSSTTS LCSFPVANVS LTKGGRDRVL
110 120 130 140 150
MYGQPYRVTL ELELPESPVN QDLGMFLVTI SCYTRGGRII STSSRSVMLH
160 170 180 190 200
YRSDLLQMLD TLVFSSLLLF GFAEQKQLLE VELYADYREN SYVPTTGAII
210 220 230 240 250
EIHSKRIQLY GAYLRIHAHF TGLRYLLYNF PMTCAFIGVA SNFTFLSVIV
260 270 280 290 300
LFSYMQWVWG GIWPRHRFSL QVNIRKRDNS RKEVQRRISA HQPGPEGQEE
310 320 330 340 350
STPQSDVTED GESPEDPSGT EGQLSEEEKP DQQPLSGEEE LEPEASDGSG
360 370 380 390
SWEDAALLTE ANLPAPAPAS ASAPVLETLG SSEPAGGALR QRPTCSSS
Computationally mapped potential isoform sequencesi
There are 14 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketJ3KQ12 | J3KQ12_HUMAN | Seipin | BSCL2 hCG_2020143 | 464 | Annotation score: | ||
H7BXM1 | H7BXM1_HUMAN | Seipin | BSCL2 | 277 | Annotation score: | ||
E9PIU3 | E9PIU3_HUMAN | Seipin | BSCL2 | 226 | Annotation score: | ||
E9PSB5 | E9PSB5_HUMAN | Seipin | BSCL2 | 123 | Annotation score: | ||
E9PRU2 | E9PRU2_HUMAN | Seipin | BSCL2 | 99 | Annotation score: | ||
F8W7Q8 | F8W7Q8_HUMAN | Seipin | BSCL2 | 223 | Annotation score: | ||
E9PR78 | E9PR78_HUMAN | Seipin | BSCL2 | 111 | Annotation score: | ||
H7BYY0 | H7BYY0_HUMAN | Seipin | BSCL2 | 79 | Annotation score: | ||
H7C2D5 | H7C2D5_HUMAN | Seipin | BSCL2 | 150 | Annotation score: | ||
E9PJK0 | E9PJK0_HUMAN | Seipin | BSCL2 | 93 | Annotation score: | ||
There are more potential isoformsShow all |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_022375 | 88 | N → S in SPG17 and HMN5A; does not affect protein subcellular location. 3 PublicationsCorresponds to variant dbSNP:rs137852972EnsemblClinVar. | 1 | |
Natural variantiVAR_022376 | 90 | S → L in SPG17 and HMN5A; also found in patients with hereditary motor and sensory neuropathy type 2; does not affect the function in lipid storage. 4 PublicationsCorresponds to variant dbSNP:rs137852973EnsemblClinVar. | 1 | |
Natural variantiVAR_022377 | 212 | A → P in CGL2; increases localization to nuclear envelope; no effect on its interaction with TMEM159/LDAF1; no rescue of aberrant lipid droplet formation in BSCL2-knockdown cells. 3 PublicationsCorresponds to variant dbSNP:rs137852971EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_044545 | 1 | M → MSTEKVDQKEEAGEKEVCGD QIKGPDKEEEPPAAASHGQG WRPGGRAARNARPEPGARHP ALPAM in isoform 3. Curated | 1 | |
Alternative sequenceiVSP_051726 | 225 – 287 | YLLYN…EVQRR → LTSEKETIPGRKSNEGSLLI SQGLKARRSQLRNQMLQRMV RALKIPQGQRVSCPRRRNQI SSP in isoform 2. 1 PublicationAdd BLAST | 63 | |
Alternative sequenceiVSP_051727 | 288 – 398 | Missing in isoform 2. 1 PublicationAdd BLAST | 111 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK027524 mRNA Translation: BAB55175.1 AK075317 mRNA Translation: BAC11543.1 AF052149 mRNA No translation available. CH471076 Genomic DNA Translation: EAW74070.1 CH471076 Genomic DNA Translation: EAW74074.1 AP001458 Genomic DNA No translation available. BC004911 mRNA Translation: AAH04911.1 BC012140 mRNA Translation: AAH12140.1 BC041640 mRNA Translation: AAH41640.1 BC093048 mRNA Translation: AAH93048.1 |
CCDSi | CCDS44627.1 [Q96G97-4] CCDS55769.1 [Q96G97-3] CCDS8031.1 [Q96G97-2] |
RefSeqi | NP_001116427.1, NM_001122955.3 [Q96G97-4] NP_001124174.2, NM_001130702.2 [Q96G97-3] NP_116056.3, NM_032667.6 [Q96G97-2] |
Genome annotation databases
Ensembli | ENST00000278893; ENSP00000278893; ENSG00000168000 [Q96G97-3] ENST00000360796; ENSP00000354032; ENSG00000168000 [Q96G97-4] ENST00000403550; ENSP00000385561; ENSG00000168000 [Q96G97-2] ENST00000407022; ENSP00000384080; ENSG00000168000 [Q96G97-2] ENST00000421906; ENSP00000413209; ENSG00000168000 [Q96G97-2] |
GeneIDi | 26580 |
KEGGi | hsa:26580 |
UCSCi | uc001nup.4, human [Q96G97-2] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK027524 mRNA Translation: BAB55175.1 AK075317 mRNA Translation: BAC11543.1 AF052149 mRNA No translation available. CH471076 Genomic DNA Translation: EAW74070.1 CH471076 Genomic DNA Translation: EAW74074.1 AP001458 Genomic DNA No translation available. BC004911 mRNA Translation: AAH04911.1 BC012140 mRNA Translation: AAH12140.1 BC041640 mRNA Translation: AAH41640.1 BC093048 mRNA Translation: AAH93048.1 |
CCDSi | CCDS44627.1 [Q96G97-4] CCDS55769.1 [Q96G97-3] CCDS8031.1 [Q96G97-2] |
RefSeqi | NP_001116427.1, NM_001122955.3 [Q96G97-4] NP_001124174.2, NM_001130702.2 [Q96G97-3] NP_116056.3, NM_032667.6 [Q96G97-2] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6DS5 | electron microscopy | 3.80 | A/B/C/D/E/F/G/H/I/J/K | 2-398 | [»] | |
SMRi | Q96G97 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 117749, 80 interactors |
CORUMi | Q96G97 |
IntActi | Q96G97, 35 interactors |
MINTi | Q96G97 |
STRINGi | 9606.ENSP00000354032 |
Protein family/group databases
TCDBi | 1.R.1.1.1, the membrane contact site (mcs) family |
PTM databases
CarbonylDBi | Q96G97 |
GlyConnecti | 1728, 7 N-Linked glycans (1 site) |
GlyGeni | Q96G97, 2 sites |
iPTMneti | Q96G97 |
PhosphoSitePlusi | Q96G97 |
Polymorphism and mutation databases
BioMutai | BSCL2 |
DMDMi | 269849705 |
Proteomic databases
EPDi | Q96G97 |
jPOSTi | Q96G97 |
MassIVEi | Q96G97 |
PaxDbi | Q96G97 |
PeptideAtlasi | Q96G97 |
PRIDEi | Q96G97 |
ProteomicsDBi | 33726 76606 [Q96G97-2] 76607 [Q96G97-3] |
Protocols and materials databases
Antibodypediai | 28672, 167 antibodies |
DNASUi | 26580 |
Genome annotation databases
Ensembli | ENST00000278893; ENSP00000278893; ENSG00000168000 [Q96G97-3] ENST00000360796; ENSP00000354032; ENSG00000168000 [Q96G97-4] ENST00000403550; ENSP00000385561; ENSG00000168000 [Q96G97-2] ENST00000407022; ENSP00000384080; ENSG00000168000 [Q96G97-2] ENST00000421906; ENSP00000413209; ENSG00000168000 [Q96G97-2] |
GeneIDi | 26580 |
KEGGi | hsa:26580 |
UCSCi | uc001nup.4, human [Q96G97-2] |
Organism-specific databases
CTDi | 26580 |
DisGeNETi | 26580 |
EuPathDBi | HostDB:ENSG00000168000.14 |
GeneCardsi | BSCL2 |
GeneReviewsi | BSCL2 |
HGNCi | HGNC:15832, BSCL2 |
HPAi | ENSG00000168000, Low tissue specificity |
MalaCardsi | BSCL2 |
MIMi | 269700, phenotype 270685, phenotype 600794, phenotype 606158, gene 615924, phenotype |
neXtProti | NX_Q96G97 |
OpenTargetsi | ENSG00000168000 |
Orphaneti | 100998, Autosomal dominant spastic paraplegia type 17 528, Berardinelli-Seip congenital lipodystrophy 139536, Distal hereditary motor neuropathy type 5 363400, Severe neurodegenerative syndrome with lipodystrophy |
PharmGKBi | PA25432 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4200, Eukaryota |
GeneTreei | ENSGT00390000011639 |
HOGENOMi | CLU_049458_1_1_1 |
InParanoidi | Q96G97 |
PhylomeDBi | Q96G97 |
TreeFami | TF314000 |
Enzyme and pathway databases
PathwayCommonsi | Q96G97 |
Miscellaneous databases
BioGRID-ORCSi | 26580, 18 hits in 846 CRISPR screens |
ChiTaRSi | BSCL2, human |
GeneWikii | BSCL2 |
GenomeRNAii | 26580 |
Pharosi | Q96G97, Tbio |
PROi | PR:Q96G97 |
RNActi | Q96G97, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000168000, Expressed in testis and 122 other tissues |
ExpressionAtlasi | Q96G97, baseline and differential |
Genevisiblei | Q96G97, HS |
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_HUMAN | |
Accessioni | Q96G97Primary (citable) accession number: Q96G97 Secondary accession number(s): G3XAE4 Q9BSQ0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 26, 2005 |
Last sequence update: | November 24, 2009 | |
Last modified: | December 2, 2020 | |
This is version 160 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations