Bscl2 BSCL2 lipid droplet biogenesis associated, seipin [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Bscl2provided by RGD
Official Full Name: BSCL2 lipid droplet biogenesis associated, seipinprovided by RGD
Primary source: RGD:1308135
See related: Ensembl:ENSRNOG00000052393 AllianceGenome:RGD:1308135
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Predicted to enable phospholipid binding activity. Predicted to be involved in several processes, including lipid droplet formation; positive regulation of cold-induced thermogenesis; and regulation of lipid metabolic process. Predicted to act upstream of or within several processes, including adipose tissue development; cytosolic lipolysis; and regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction. Predicted to be located in endoplasmic reticulum membrane and lipid droplet. Predicted to be integral component of endoplasmic reticulum membrane. Used to study azoospermia. Human ortholog(s) of this gene implicated in congenital generalized lipodystrophy type 2; hereditary spastic paraplegia; hereditary spastic paraplegia 17; and lipodystrophy. Orthologous to human BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in Testes (RPKM 366.5), Kidney (RPKM 280.9) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 1q43

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	1	NC_086019.1 (215160764..215172540)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	1	NC_051336.1 (205731828..205743430)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	1	NC_005100.4 (225035956..225046137)

Chromosome 1 - NC_086019.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Seipin overexpression attenuates cerebral ischemia-reperfusion injury via preventing apoptosis and autophagy.
Title: Seipin overexpression attenuates cerebral ischemia-reperfusion injury via preventing apoptosis and autophagy.
miR1873p inhibitor attenuates cerebral ischemia/reperfusion injury by regulating Seipinmediated autophagic flux.
Title: miR‑187‑3p inhibitor attenuates cerebral ischemia/reperfusion injury by regulating Seipin‑mediated autophagic flux.
we generated a Bscl2/seipin knockout (SKO) rat using the method with ENU (N-ethyl-N-nitrosourea) mutagenesis. SKO rats showed total lack of white adipose tissues including mechanical fat such as bone marrow and retro-orbital fats
Title: Seipin is necessary for normal brain development and spermatogenesis in addition to adipogenesis.
Localization, cDNA sequence and genomic organization of the rat and sequence analysis in inbred rat models of Type 2 diabetes mellitus.
Title: Localization, cDNA sequence and genomic organization of the rat seipin gene (Bscl2) and sequence analysis in inbred rat models of Type 2 diabetes mellitus.

Submit: New GeneRIF Correction

General gene information

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Markers

BG381397 (e-PCR)
- UniSTS:249880

UniSTS:498224 (e-PCR)
- UniSTS:498224

Bscl2 (e-PCR), detects polymorphism
- UniSTS:498224

RH129317 (e-PCR)
- UniSTS:212624

RH142166 (e-PCR)
- UniSTS:231418

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info
enables phospholipid binding	IEA Inferred from Electronic Annotation more info
enables phospholipid binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within adipose tissue development	ISO Inferred from Sequence Orthology more info
involved_in biological_process	ND No biological Data available more info
acts_upstream_of_or_within cytosolic lipolysis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within fat cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in fat cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in fat cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in lipid droplet formation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within lipid droplet formation	ISO Inferred from Sequence Orthology more info
involved_in lipid droplet formation	ISO Inferred from Sequence Orthology more info
involved_in lipid droplet formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in lipid droplet organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within lipid droplet organization	ISO Inferred from Sequence Orthology more info
involved_in lipid droplet organization	ISO Inferred from Sequence Orthology more info
involved_in lipid droplet organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in lipid storage	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within lipid storage	ISO Inferred from Sequence Orthology more info
involved_in lipid storage	ISO Inferred from Sequence Orthology more info
involved_in lipid storage	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within maintenance of location in cell	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of lipid catabolic process	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in regulation of phosphatidic acid biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within spermatid differentiation	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in lipid droplet	IEA Inferred from Electronic Annotation more info
located_in lipid droplet	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: seipin

Names: BSCL2, seipin lipid droplet biogenesis associated; Berardinelli-Seip congenital lipodystrophy 2 (seipin); bernardinelli-Seip congenital lipodystrophy type 2 protein homolog

NCBI Reference Sequences (RefSeq)

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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)

NM_001012171.2 → NP_001012171.2 seipin

Status: VALIDATED

Source sequence(s)

BC089942, BF393055, JAXUCZ010000001

UniProtKB/TrEMBL

A0A8I5Y6M7, A6HZV3

Related

ENSRNOP00000077692.1, ENSRNOT00000106351.1

Conserved Domains (1) summary

pfam06775
Location:99 → 303

Seipin; Putative adipose-regulatory protein (Seipin)

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086019.1 Reference GRCr8

Range

215160764..215172540

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_063268356.1 → XP_063124426.1 seipin isoform X2

UniProtKB/TrEMBL

A0A8I5Y6M7, A6HZV3
XM_063268354.1 → XP_063124424.1 seipin isoform X2

UniProtKB/TrEMBL

A0A8I5Y6M7, A6HZV3
XM_039084117.2 → XP_038940045.1 seipin isoform X1

UniProtKB/Swiss-Prot

Q5FVJ6

UniProtKB/TrEMBL

A6HZV5

Conserved Domains (1) summary

pfam06775
Location:39 → 243

Seipin; Putative adipose-regulatory protein (Seipin)