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BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) [ Homo sapiens (human) ]

Gene ID: 26580, updated on 11-Sep-2014
Official Symbol
BSCL2provided by HGNC
Official Full Name
Berardinelli-Seip congenital lipodystrophy 2 (seipin)provided by HGNC
Primary source
HGNC:HGNC:15832
See related
Ensembl:ENSG00000168000; HPRD:05858; MIM:606158; Vega:OTTHUMG00000150624
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]
See BSCL2 in Epigenomics, MapViewer
Location:
11q13
Exon count:
13
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 Neighboring gene LRRN4 C-terminal like Neighboring gene guanine nucleotide binding protein (G protein), gamma 3 Neighboring gene heterogeneous nuclear ribonucleoprotein U-like 2 Neighboring gene tetratricopeptide repeat domain 9C

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 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...
Products Interactant Other Gene Complex Source Pubs Description

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
 
Process Evidence Code Pubs
cell death IEA
Inferred from Electronic Annotation
more info
 
fat cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
lipid catabolic process IEA
Inferred from Electronic Annotation
more info
 
lipid particle organization IMP
Inferred from Mutant Phenotype
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
 
Component Evidence Code Pubs
integral component of endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
seipin
Names
seipin
Bernardinelli-Seip congenital lipodystrophy type 2 protein

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 

    Range
    4956..24313
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001122955.3NP_001116427.1  seipin isoform 1

    See proteins identical to 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/TrEMBL
    A0A024R540
    UniProtKB/Swiss-Prot
    Q96G97
    Related
    ENSP00000354032, OTTHUMP00000198004, ENST00000360796, OTTHUMT00000319182
    Conserved Domains (1) summary
    pfam06775
    Location:101307
    Seipin; Putative adipose-regulatory protein (Seipin)
  2. NM_001130702.2NP_001124174.2  seipin isoform 3

    See proteins identical to 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, OTTHUMP00000198009, ENST00000278893, OTTHUMT00000319187
    Conserved Domains (1) summary
    pfam06775
    Location:37224
    Seipin; Putative adipose-regulatory protein (Seipin)
  3. NM_032667.6NP_116056.3  seipin isoform 2

    See proteins identical to 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/TrEMBL
    A0A024R549
    UniProtKB/Swiss-Prot
    Q96G97
    Related
    ENSP00000384080, OTTHUMP00000198006, ENST00000407022, OTTHUMT00000319184
    Conserved Domains (2) summary
    pfam05395
    Location:264360
    DARPP-32; Protein phosphatase inhibitor 1/DARPP-32
    pfam06775
    Location:37243
    Seipin; Putative adipose-regulatory protein (Seipin)

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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000011.10 

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

Alternate HuRef

Genomic

  1. AC_000143.1 

    Range
    58786515..58805891
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 

    Range
    62340845..62360176
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)