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

Gene ID: 14705, updated on 2-Nov-2024

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 adipose tissue development; cytosolic lipolysis; and lipid droplet formation. Located in endoplasmic reticulum. Is expressed in brown fat; early conceptus; and secondary oocyte. Used to study congenital generalized lipodystrophy type 2 and male infertility. Human ortholog(s) of this gene implicated in autosomal dominant distal hereditary motor neuronopathy 13; 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, Nov 2024]
Expression
Broad expression in testis adult (RPKM 197.2), mammary gland adult (RPKM 117.3) and 23 other tissues See more
Orthologs
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Genomic context

See Bscl2 in Genome Data Viewer
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_000085.7Genomic Context describing neighboring genes Neighboring gene zinc finger and BTB domain containing 3 Neighboring gene tetratricopeptide repeat domain 9C Neighboring gene STARR-seq mESC enhancer starr_45496 Neighboring gene heterogeneous nuclear ribonucleoprotein U-like 2 Neighboring gene guanine nucleotide binding protein (G protein), gamma 3 Neighboring gene LRRN4 C-terminal like Neighboring gene STARR-seq mESC enhancer starr_45500 Neighboring gene UBX domain protein 1

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 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 formation ISS
Inferred from Sequence or Structural Similarity
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
 
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 cytosol IEA
Inferred from Electronic Annotation
more info
 
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 endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in lipid droplet IEA
Inferred from Electronic Annotation
more info
 
located_in lipid droplet ISO
Inferred from Sequence Orthology
more info
 

General protein information

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)

  1. NM_001136064.3NP_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:352417
    PHA00666; putative protease
    pfam06775
    Location:99302
    Seipin; Putative adipose-regulatory protein (Seipin)
  2. NM_001290823.1NP_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:285349
    PTZ00415; transmission-blocking target antigen s230; Provisional
    pfam06775
    Location:39243
    Seipin; Putative adipose-regulatory protein (Seipin)
  3. NM_008144.5NP_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:352417
    PHA00666; putative protease
    pfam06775
    Location:99302
    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

  1. NC_000085.7 Reference GRCm39 C57BL/6J

    Range
    8814831..8826047
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006526691.3XP_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:285349
    PTZ00415; transmission-blocking target antigen s230; Provisional
    pfam06775
    Location:39243
    Seipin; Putative adipose-regulatory protein (Seipin)
  2. XM_030250754.1XP_030106614.1  seipin isoform X1

    UniProtKB/Swiss-Prot
    Q3TY41, Q3U1S5, Q810B0, Q9JJC2, Q9JMF1, Q9Z2E9
    Related
    ENSMUST00000162071.8
    Conserved Domains (2) summary
    PTZ00415
    Location:285349
    PTZ00415; transmission-blocking target antigen s230; Provisional
    pfam06775
    Location:39243
    Seipin; Putative adipose-regulatory protein (Seipin)