Bscl2 BSCL2 lipid droplet biogenesis associated, seipin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Bscl2provided by MGI
Official Full Name: BSCL2 lipid droplet biogenesis associated, seipinprovided by MGI
Primary source: MGI:MGI:1298392
See related: Ensembl:ENSMUSG00000071657 AllianceGenome:MGI:1298392
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gng3lg; 2900097C17Rik
Summary: Predicted to enable phospholipid binding activity. Involved in several processes, including fat cell differentiation; positive regulation of cold-induced thermogenesis; and regulation of lipid metabolic process. Acts upstream of or within several processes, including cytosolic lipolysis; lipid droplet formation; and regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction. Located in endoplasmic reticulum. Is expressed in early conceptus and secondary oocyte. Used to study congenital generalized lipodystrophy type 2 and male infertility. Human ortholog(s) of this gene implicated in congenital generalized lipodystrophy type 2; hereditary spastic paraplegia; hereditary spastic paraplegia 17; and lipodystrophy. Orthologous to human BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in testis adult (RPKM 197.2), mammary gland adult (RPKM 117.3) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 A; 19 5.76 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (8814831..8826047)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (8837467..8848683)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Effects of Seipin on Mouse Mesenchymal Stem Cell Osteo-Adipogenic Balance.
Title: Effects of Seipin on Mouse Mesenchymal Stem Cell Osteo-Adipogenic Balance.
Mice deficient in ER protein seipin have reduced adrenal cholesteryl ester lipid droplet formation and utilization.
Title: Mice deficient in ER protein seipin have reduced adrenal cholesteryl ester lipid droplet formation and utilization.
BSCL2/Seipin deficiency in hearts causes cardiac energy deficit and dysfunction via inducing excessive lipid catabolism.
Title: BSCL2/Seipin deficiency in hearts causes cardiac energy deficit and dysfunction via inducing excessive lipid catabolism.
Seipin localizes at endoplasmic-reticulum-mitochondria contact sites to control mitochondrial calcium import and metabolism in adipocytes.
Title: Seipin localizes at endoplasmic-reticulum-mitochondria contact sites to control mitochondrial calcium import and metabolism in adipocytes.
Berardinelli-Seip congenital lipodystrophy 2/SEIPIN determines brown adipose tissue maintenance and thermogenic programing.
Title: Berardinelli-Seip congenital lipodystrophy 2/SEIPIN determines brown adipose tissue maintenance and thermogenic programing.
Ablation of Bscl2/seipin in hepatocytes does not cause metabolic dysfunction in congenital generalised lipodystrophy.
Title: Ablation of Bscl2/seipin in hepatocytes does not cause metabolic dysfunction in congenital generalised lipodystrophy.
Targeting ATGL to rescue BSCL2 lipodystrophy and its associated cardiomyopathy.
Title: Targeting ATGL to rescue BSCL2 lipodystrophy and its associated cardiomyopathy.
the effects of SEIPIN on triglyceride and PGC-1alpha are dependent on calcium concentrations, signifying regulatory activity on hepatic lipometabolism through alterations in the intracellular calcium level.
Title: SEIPIN overexpression in the liver may alleviate hepatic steatosis by influencing the intracellular calcium level.
neuronal seipin deletion causes hyperphosphorylation and aggregation of tau protein leading to axonal atrophy through reduced PPARgamma to enhance GSK3beta and Akt/mTOR signaling; systemic seipin deletion-induced insulin resistance causes tau hyperphosphorylation via cascading JNK pathway.
Title: Seipin deletion in mice enhances phosphorylation and aggregation of tau protein through reduced neuronal PPARγ and insulin resistance.
Study links BSCL2 lipodystrophy to reduced triglycerides but excess glycogen in hypertrophic skeletal muscle. Incomplete fatty acid oxidation in muscle of Bscl2-/- mice results in insulin resistance, while hyperinsulinemia may trigger excessive muscle glycogen synthesis and growth. Also, circulating fatty acids level in BSCL2 lipodystrophy are a key determinant of oxidative muscle insulin sensitivity and glucose uptake.
Title: Novel metabolic disorders in skeletal muscle of Lipodystrophic Bscl2/Seipin deficient mice.

Submit: New GeneRIF Correction See all GeneRIFs (48)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (8) 1 citation
Endonuclease-mediated (7) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI046355 (e-PCR)
- UniSTS:160788

UniSTS:498224 (e-PCR)
- UniSTS:498224

Bscl2 (e-PCR), detects polymorphism
- UniSTS:498224

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables phospholipid binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within adipose tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cytosolic lipolysis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within fat cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fat cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lipid catabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within lipid droplet formation	IDA Inferred from Direct Assay more info	PubMed
involved_in lipid droplet formation	ISO Inferred from Sequence Orthology more info
involved_in lipid droplet organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within lipid droplet organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipid droplet organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipid droplet organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in lipid storage	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within lipid storage	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipid storage	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within maintenance of location in cell	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of catalytic activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of lipid catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cold-induced thermogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of phosphatidic acid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spermatid differentiation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in lipid droplet	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: seipin

Names: Berardinelli-Seip congenital lipodystrophy 2 (seipin); Berardinelli-Seip congenital lipodystrophy 2 homolog (seipin); Bernardinelli-Seip congenital lipodystrophy 2 homolog; G protein gamma 3 linked; bernardinelli-Seip congenital lipodystrophy type 2 protein homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001136064.3 → NP_001129536.1 seipin isoform 1

See identical proteins and their annotated locations for NP_001129536.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) is the longer transcript and encodes the longer isoform (1). Variants 1 and 2 encode the same isoform (1).

Source sequence(s)

AC129217, BC061689, CK618551

Consensus CDS

CCDS29551.2

UniProtKB/TrEMBL

A0A0R4J225

Related

ENSMUSP00000127685.2, ENSMUST00000171649.8

Conserved Domains (2) summary

PHA00666
Location:352 → 417

PHA00666; putative protease

pfam06775
Location:99 → 302

Seipin; Putative adipose-regulatory protein (Seipin)
NM_001290823.1 → NP_001277752.1 seipin isoform 2

See identical proteins and their annotated locations for NP_001277752.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.

Source sequence(s)

AC129217, AK151606, BY132247

Consensus CDS

CCDS70931.1

UniProtKB/Swiss-Prot

Q3TY41, Q3U1S5, Q810B0, Q9JJC2, Q9JMF1, Q9Z2E9

Related

ENSMUSP00000083224.7, ENSMUST00000086058.13

Conserved Domains (2) summary

PTZ00415
Location:285 → 349

PTZ00415; transmission-blocking target antigen s230; Provisional

pfam06775
Location:39 → 243

Seipin; Putative adipose-regulatory protein (Seipin)
NM_008144.5 → NP_032170.3 seipin isoform 1

See identical proteins and their annotated locations for NP_032170.3

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (1).

Source sequence(s)

AC129217, AK158901

Consensus CDS

CCDS29551.2

UniProtKB/TrEMBL

A0A0R4J225

Conserved Domains (2) summary

PHA00666
Location:352 → 417

PHA00666; putative protease

pfam06775
Location:99 → 302

Seipin; Putative adipose-regulatory protein (Seipin)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000085.7 Reference GRCm39 C57BL/6J

Range

8814831..8826047

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006526691.3 → XP_006526754.1 seipin isoform X1

See identical proteins and their annotated locations for XP_006526754.1

UniProtKB/Swiss-Prot

Q3TY41, Q3U1S5, Q810B0, Q9JJC2, Q9JMF1, Q9Z2E9

Conserved Domains (2) summary

PTZ00415
Location:285 → 349

PTZ00415; transmission-blocking target antigen s230; Provisional

pfam06775
Location:39 → 243

Seipin; Putative adipose-regulatory protein (Seipin)
XM_030250754.1 → XP_030106614.1 seipin isoform X1

UniProtKB/Swiss-Prot

Q3TY41, Q3U1S5, Q810B0, Q9JJC2, Q9JMF1, Q9Z2E9

Related

ENSMUST00000162071.8

Conserved Domains (2) summary

PTZ00415
Location:285 → 349

PTZ00415; transmission-blocking target antigen s230; Provisional

pfam06775
Location:39 → 243

Seipin; Putative adipose-regulatory protein (Seipin)