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    Bscl2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) [ Mus musculus (house mouse) ]

    Gene ID: 14705, updated on 16-Oct-2021

    Summary

    Official Symbol
    Bscl2provided by MGI
    Official Full Name
    Berardinelli-Seip congenital lipodystrophy 2 (seipin)provided by MGI
    Primary source
    MGI:MGI:1298392
    See related
    Ensembl:ENSMUSG00000071657
    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; AI046355; 2900097C17Rik
    Expression
    Broad expression in testis adult (RPKM 197.2), mammary gland adult (RPKM 117.3) and 23 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Bscl2 in Genome Data Viewer
    Location:
    19 A; 19 5.76 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109 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)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 19 NC_000085.5 (8911957..8923173)

    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 heterogeneous nuclear ribonucleoprotein U-like 2 Neighboring gene guanine nucleotide binding protein (G protein), gamma 3 Neighboring gene LRRN4 C-terminal like Neighboring gene UBX domain protein 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    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

    Homology

    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
    PubMed 
    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
    PubMed 
    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
     
    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 
    acts_upstream_of_or_within regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction 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 
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in integral component of endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in integral component of endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    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

    Preferred Names
    seipin
    Names
    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)

    NEW Try the new Transcript table

    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/Swiss-Prot
      Q9Z2E9
      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
      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/Swiss-Prot
      Q9Z2E9
      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: Mus musculus Annotation Release 109 details...Open this link in a new tab

    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
      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

      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)
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