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    BSCL2 BSCL2 lipid droplet biogenesis associated, seipin [ Homo sapiens (human) ]

    Gene ID: 26580, updated on 28-Jun-2021

    Summary

    Official Symbol
    BSCL2provided by HGNC
    Official Full Name
    BSCL2 lipid droplet biogenesis associated, seipinprovided by HGNC
    Primary source
    HGNC:HGNC:15832
    See related
    Ensembl:ENSG00000168000 MIM:606158
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HMN5; PELD; HMN5C; SPG17; GNG3LG
    Summary
    This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011]
    Expression
    Broad expression in testis (RPKM 67.3), brain (RPKM 64.7) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See BSCL2 in Genome Data Viewer
    Location:
    11q12.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (62690262..62709537, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (62457734..62477009, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene UBX domain protein 1 Neighboring gene HNRNPUL2-BSCL2 readthrough (NMD candidate) Neighboring gene LRRN4 C-terminal like Neighboring gene G protein subunit gamma 3 Neighboring gene heterogeneous nuclear ribonucleoprotein U like 2 Neighboring gene tetratricopeptide repeat domain 9C

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Readthrough HNRNPUL2-BSCL2

    Readthrough gene: HNRNPUL2-BSCL2, Included gene: HNRNPUL2

    Homology

    Clone Names

    • MGC4694, FLJ16651

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phospholipid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in fat cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in lipid catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lipid droplet formation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in lipid droplet formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lipid droplet organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in lipid droplet organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lipid storage IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in lipid storage IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of lipid catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 

    General protein information

    Preferred Names
    seipin
    Names
    BSCL2, seipin lipid droplet biogenesis associated
    Berardinelli-Seip congenital lipodystrophy 2 (seipin)
    Bernardinelli-Seip congenital lipodystrophy type 2 protein

    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.

    Genomic

    1. NG_008461.1 RefSeqGene

      Range
      6868..24313
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_235

    mRNA and Protein(s)

    1. NM_001122955.4NP_001116427.1  seipin isoform 1

      See identical proteins and their annotated locations for NP_001116427.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AF052149, AP001458
      Consensus CDS
      CCDS44627.1
      UniProtKB/Swiss-Prot
      Q96G97
      UniProtKB/TrEMBL
      A0A024R540
      Related
      ENSP00000354032.5, ENST00000360796.10
      Conserved Domains (2) summary
      PHA03169
      Location:357412
      PHA03169; hypothetical protein; Provisional
      pfam06775
      Location:103307
      Seipin; Putative adipose-regulatory protein (Seipin)
    2. NM_001130702.2NP_001124174.2  seipin isoform 3

      See identical proteins and their annotated locations for NP_001124174.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has multiple differences, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 3) is shorter at the N-terminus and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK027524, DB296305
      Consensus CDS
      CCDS55769.1
      UniProtKB/Swiss-Prot
      Q96G97
      Related
      ENSP00000278893.7, ENST00000278893.11
      Conserved Domains (1) summary
      pfam06775
      Location:39224
      Seipin; Putative adipose-regulatory protein (Seipin)
    3. NM_001386027.1NP_001372956.1  seipin isoform 4

      Status: REVIEWED

      Source sequence(s)
      AP001458
      Related
      ENSP00000385332.1, ENST00000405837.5
      Conserved Domains (2) summary
      PHA03169
      Location:355414
      PHA03169; hypothetical protein; Provisional
      pfam06775
      Location:103307
      Seipin; Putative adipose-regulatory protein (Seipin)
    4. NM_001386028.1NP_001372957.1  seipin isoform 1

      Status: REVIEWED

      Source sequence(s)
      AP001458
      Related
      ENSP00000505838.1, ENST00000679883.1
      Conserved Domains (2) summary
      PHA03169
      Location:357412
      PHA03169; hypothetical protein; Provisional
      pfam06775
      Location:103307
      Seipin; Putative adipose-regulatory protein (Seipin)
    5. NM_032667.6NP_116056.3  seipin isoform 2

      See identical proteins and their annotated locations for NP_116056.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 5' exon and uses a downstream AUG start codon, as compared to variant 1. The resulting isoform (2) has a shorter N-terminus, as compared to isoform 1.
      Source sequence(s)
      AK027524, BC041640, DB296305
      Consensus CDS
      CCDS8031.1
      UniProtKB/Swiss-Prot
      Q96G97
      UniProtKB/TrEMBL
      A0A024R549
      Related
      ENSP00000384080.3, ENST00000407022.7
      Conserved Domains (2) summary
      PHA03169
      Location:293348
      PHA03169; hypothetical protein; Provisional
      pfam06775
      Location:39243
      Seipin; Putative adipose-regulatory protein (Seipin)

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      62690262..62709537 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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