Sar1b secretion associated Ras related GTPase 1B [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sar1bprovided by MGI
Official Full Name: secretion associated Ras related GTPase 1Bprovided by MGI
Primary source: MGI:MGI:1913647
See related: Ensembl:ENSMUSG00000020386 AllianceGenome:MGI:1913647
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: CMRD; Sarb; Sara2; Sara1b; 2310075M17Rik; 2900019I22Rik
Summary: Predicted to enable G protein activity and amino acid sensor activity. Involved in lipid export from cell and lipoprotein transport. Predicted to be located in cytosol. Predicted to be part of COPII vesicle coat. Predicted to be active in endoplasmic reticulum exit site and lysosomal membrane. Is expressed in cerebral cortex intermediate zone; cerebral cortex subventricular zone; cerebral cortex ventricular layer; cortical plate; and cortical preplate. Used to study chylomicron retention disease. Human ortholog(s) of this gene implicated in chylomicron retention disease. Orthologous to human SAR1B (secretion associated Ras related GTPase 1B). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in liver E18 (RPKM 51.6), bladder adult (RPKM 37.1) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 B1.3; 11 31.41 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (51654490..51682780)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (51763663..51791953)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Sar1b mutant mice recapitulate gastrointestinal abnormalities associated with chylomicron retention disease.
Title: Sar1b mutant mice recapitulate gastrointestinal abnormalities associated with chylomicron retention disease.
Functional overlap between the mammalian Sar1a and Sar1b paralogs in vivo.
Title: Functional overlap between the mammalian Sar1a and Sar1b paralogs in vivo.
High-fat diet reveals the impact of Sar1b defects on lipid and lipoprotein profile and cholesterol metabolism.
Title: High-fat diet reveals the impact of Sar1b defects on lipid and lipoprotein profile and cholesterol metabolism.
Receptor-Mediated ER Export of Lipoproteins Controls Lipid Homeostasis in Mice and Humans.
Title: Receptor-Mediated ER Export of Lipoproteins Controls Lipid Homeostasis in Mice and Humans.
Inhibition of Sar1b, the Gene Implicated in Chylomicron Retention Disease, Impairs Migration and Morphogenesis of Developing Cortical Neurons.
Title: Inhibition of Sar1b, the Gene Implicated in Chylomicron Retention Disease, Impairs Migration and Morphogenesis of Developing Cortical Neurons.
Data suggest the importance of small Sar1b GTPase (Sar1b) in organs involved in lipid transport and/or calcium trafficking such as the liver, intestine, skeletal muscle and heart.
Title: Tissue distribution and regulation of the small Sar1b GTPase in mice.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2) 1 citation
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables G protein activity	ISO Inferred from Sequence Orthology more info
enables G protein activity	ISS Inferred from Sequence or Structural Similarity more info
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables amino acid sensor activity	IEA Inferred from Electronic Annotation more info
enables amino acid sensor activity	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in COPII vesicle coating	ISO Inferred from Sequence Orthology more info
involved_in COPII vesicle coating	ISS Inferred from Sequence or Structural Similarity more info
involved_in COPII-coated vesicle cargo loading	ISO Inferred from Sequence Orthology more info
involved_in COPII-coated vesicle cargo loading	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to leucine starvation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to leucine starvation	ISO Inferred from Sequence Orthology more info
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	ISO Inferred from Sequence Orthology more info
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular protein transport	IEA Inferred from Electronic Annotation more info
involved_in lipid export from cell	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipid homeostasis	ISO Inferred from Sequence Orthology more info
involved_in lipid homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in lipoprotein transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipoprotein transport	ISO Inferred from Sequence Orthology more info
involved_in lipoprotein transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in membrane organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of TORC1 signaling	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of TORC1 signaling	ISO Inferred from Sequence Orthology more info
involved_in regulation of COPII vesicle coating	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of TORC1 signaling	ISO Inferred from Sequence Orthology more info
involved_in regulation of lipid transport	ISO Inferred from Sequence Orthology more info
involved_in regulation of lipid transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in vesicle organization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of COPII vesicle coat	IBA Inferred from Biological aspect of Ancestor more info
part_of COPII vesicle coat	ISO Inferred from Sequence Orthology more info
part_of COPII vesicle coat	ISS Inferred from Sequence or Structural Similarity more info
located_in Golgi cisterna membrane	IEA Inferred from Electronic Annotation more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
is_active_in endoplasmic reticulum exit site	IBA Inferred from Biological aspect of Ancestor more info
is_active_in endoplasmic reticulum exit site	ISO Inferred from Sequence Orthology more info
is_active_in endoplasmic reticulum exit site	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in lysosomal membrane	IEA Inferred from Electronic Annotation more info
is_active_in lysosomal membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: small COPII coat GTPase SAR1B

Names: GTP-binding protein SAR1b; SAR1 gene homolog B; SAR1a gene homolog 2; SAR1b gene homolog

NP_079811.1

EC 3.6.5.2

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.