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

    Gene ID: 14705, updated on 16-Mar-2019

    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

    Genomic context

    See Bscl2 in Genome Data Viewer
    Location:
    19 A; 19 5.76 cM
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 19 NC_000085.6 (8837467..8848683)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 19 NC_000085.5 (8911957..8923173)

    Chromosome 19 - NC_000085.6Genomic 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 FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (7)  1 citation
    • Endonuclease-mediated (2) 

    Pathways from BioSystems

    • Adipogenesis genes, organism-specific biosystem (from WikiPathways)
      Adipogenesis genes, organism-specific biosystemThe different classes of factors involved in adipogenesis are shown. Adipogenesis is the process by which fat cells differentiate from predadipocytes to adipocytes (fat cells). Adipose tissue, compos...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    adipose tissue development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cytosolic lipolysis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    fat cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    lipid catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    lipid droplet formation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lipid droplet organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    lipid droplet organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    lipid droplet organization ISO
    Inferred from Sequence Orthology
    more info
     
    lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    lipid storage IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    lipid storage IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    lipid storage ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of lipid catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cold-induced thermogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    spermatid differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    integral component of endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    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
    bscl2

    NCBI Reference Sequences (RefSeq)

    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
      ENSMUSP00000127685.1, ENSMUST00000171649.7
      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
      ENSMUSP00000083224.6, ENSMUST00000086058.12
      Conserved Domains (2) summary
      PHA00666
      Location:292357
      PHA00666; putative protease
      pfam06775
      Location:39242
      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 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000085.6 Reference GRCm38.p4 C57BL/6J

      Range
      8837467..8848683
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006526691.1XP_006526754.1  seipin isoform X1

      See identical proteins and their annotated locations for XP_006526754.1

      UniProtKB/Swiss-Prot
      Q9Z2E9
      Conserved Domains (2) summary
      PHA00666
      Location:292357
      PHA00666; putative protease
      pfam06775
      Location:39242
      Seipin; Putative adipose-regulatory protein (Seipin)
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