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

Gene ID: 26580, updated on 8-Dec-2018

Summary

Official Symbol
BSCL2provided by HGNC
Official Full Name
BSCL2, seipin lipid droplet biogenesis associatedprovided 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; 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

Genomic context

See BSCL2 in Genome Data Viewer
Location:
11q12.3
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (62690262..62709619, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (62457734..62477091, 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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

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

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
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
fat cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
lipid catabolic process IEA
Inferred from Electronic Annotation
more info
 
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 storage IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipid storage IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of lipid catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Component Evidence Code Pubs
integral component of endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
seipin
Names
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Bernardinelli-Seip congenital lipodystrophy type 2 protein

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.

Genomic

  1. NG_008461.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001122955.3NP_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)
    BC093048, BG699373, DB296305
    Consensus CDS
    CCDS44627.1
    UniProtKB/Swiss-Prot
    Q96G97
    UniProtKB/TrEMBL
    A0A024R540
    Related
    ENSP00000354032.5, ENST00000360796.9
    Conserved Domains (1) summary
    pfam06775
    Location:103306
    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_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
    pfam06775
    Location:39243
    Seipin; Putative adipose-regulatory protein (Seipin)
    cl25865
    Location:292363
    Trypan_PARP; Procyclic acidic repetitive protein (PARP)

RNA

  1. NR_037948.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs at the 5' end, compared to variant 1. This variant (4) is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK315423, AP001458, BP370169, DB296305
  2. NR_037949.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs at the 5' end and uses an alternate splice site in an internal exon, compared to variant 1. This variant (5) is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AP001458, BC009866, BP370169, DB296305
    Related
    ENST00000405837.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    62690262..62709619 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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