SAR1B - secretion associated Ras related GTPase 1B Gene

Homo sapiens

Also known as ANDD; CMRD; GTBPB; SARA2

Gene ID: 51128 | Gene type: protein coding

About SAR1B

Cytogenetic location: 5q31.1 Genomic coordinates (GRCh38): 5:134,601,149-134,632,828 (from NCBI)

This gene has 11 transcripts (splice variants), 119 orthologues, 30 paralogues and is associated with 2 phenotypes. Ubiquitous expression in liver (RPKM 17.3), small intestine (RPKM 16.1) and 25 other tissues.

Summary

The protein encoded by this gene is a small GTPase that acts as a homodimer. The encoded protein is activated by the guanine nucleotide exchange factor PREB and is involved in protein transport from the endoplasmic reticulum to the Golgi. This protein is part of the COPII coat complex. Defects in this gene are a cause of chylomicron retention disease (CMRD), also known as Anderson disease (ANDD). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010]

SAR1B Products(2)

mRNA	Protein	Name
NM_001033503.3	NP_001028675.1	GTP-binding protein SAR1b
NM_016103.4	NP_057187.1	GTP-binding protein SAR1b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables G protein activity	IDA IDA: Inferred from direct assay	32358066	GOA
enables amino acid sensor activity	IDA IDA: Inferred from direct assay	34290409	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in COPII vesicle coating	IDA IDA: Inferred from direct assay	32358066	GOA
involved in COPII vesicle coating	IMP IMP: Inferred from mutant phenotype	23433038	GOA
involved in COPII-coated vesicle cargo loading	IDA IDA: Inferred from direct assay	32358066	GOA
involved in COPII-coated vesicle cargo loading	IMP IMP: Inferred from mutant phenotype	23433038	GOA
involved in cellular response to leucine starvation	IMP IMP: Inferred from mutant phenotype	34290409	GOA
involved in endoplasmic reticulum to Golgi vesicle-mediated transport	IDA IDA: Inferred from direct assay	32358066	GOA
involved in endoplasmic reticulum to Golgi vesicle-mediated transport	IMP IMP: Inferred from mutant phenotype	23433038	GOA
involved in lipid homeostasis	IDA IDA: Inferred from direct assay	34015269	GOA
involved in lipoprotein transport	IDA IDA: Inferred from direct assay	32358066	GOA
involved in negative regulation of TORC1 signaling	IMP IMP: Inferred from mutant phenotype	34290409	GOA
involved in regulation of TORC1 signaling	IDA IDA: Inferred from direct assay	34290409	GOA
involved in regulation of lipid transport	IDA IDA: Inferred from direct assay	34015269	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of COPII vesicle coat	IDA IDA: Inferred from direct assay	32358066	GOA
located in cytosol	IDA IDA: Inferred from direct assay	34290409	GOA
is active in endoplasmic reticulum exit site	IDA IDA: Inferred from direct assay	33186557	GOA
is active in endoplasmic reticulum exit site	IMP IMP: Inferred from mutant phenotype	23433038	GOA
is active in lysosomal membrane	IDA IDA: Inferred from direct assay	34290409	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SAR1B Protein Structure

Arf

0
100
198 a.a.

Protein Preferred Names

Protein Names

GTP-binding protein SAR1b

2310075M17Rik

SAR1B Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	SAR1B	Q9Y6B6	CIDEB	Homo sapiens	Q9UHD4	Y2H Prey Pooling	32296183
Intra	SAR1B	Q9Y6B6	CIDEB	Homo sapiens	Q9UHD4	Y2H Array	32296183
Intra	SAR1B	Q9Y6B6	TMEM14B	Homo sapiens	Q9NUH8	Y2H Prey Pooling	32296183
Intra	SAR1B	Q9Y6B6	TMEM14B	Homo sapiens	Q9NUH8	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Chylomicron Retention Disease

CMRD	Anderson Disease
Lipid Transport Defect Of Intestine	Hypobetalipoproteinemia With Accumulation Of Apolipoprotein B-Like Protein In Intestinal Cells
Andd	Anderson Syndrome
Crd	Andersons Disease
Malabsorption Syndrome

Hypobetalipoproteinemia, Familial, 1

Hypobetalipoproteinemia	Familial Hypobetalipoproteinemia 1
Familial Hypobetalipoproteinemia	FHBL1
Hypobetalipoproteinemia, Familial	Fhbl
Acanthocytosis With Hypobetalipoproteinemia	Hypobetalipoproteinemias
Hypobetalipoproteinemia, Normotriglyceridemic	Hypo-Beta-Lipoproteinemia
Hypobetalipoprotéinemia, Familial	Normotriglyceridemic Hypobetalipoproteinemia
Hypobetalipoproteinemia, Familial, Type 1

Craniolenticulosutural Dysplasia

Boyadjiev-Jabs Syndrome	CLSD
Cranio-Lenticulo-Sutural Dysplasia	Cranio-Lenticulo-Sutural Dysplasia, Clsd

Anemia, Congenital Dyserythropoietic, Type Ii

Congenital Dyserythropoietic Anemia Type Ii	CDAN2
Cda Ii	Hereditary Erythroblastic Multinuclearity With Positive Acidified-Serum Test
Cda Type Ii	Congenital Dyserythropoietic Anemia Type 2
Hereditary Erythroblastic Multinuclearity With A Positive Acidified-Serum Test	Sec23b-Cdg
Congenital Dyserythropoietic Anemia, Type Ii	Dyserythropoietic Anemia, Hempas Type
Hempas	Cda Type 2
Dyserythropoietic Anemia, Congenital, Type Ii	Cda, Type Ii
Congenital Dyserythropoietic Anaemia Type 2	Congenital Dyserythropoietic Anaemia Type Ii
Anemia, Dyserythropoietic, Congenital Type 2	Hempas Anemia
Dyserythropoietic Anemia, Congenital Type 2	Anemia, Congenital Dyserythropoietic, 2
Dyserythropoietic Anemia Hempas Type	Anemia, Dyserythropoietic Congenital, Type Ii
Anemia, Dyserythropoietic, Congenital, Type Ii

Hypolipoproteinemia

Hypolipoproteinaemia	Lipoprotein Deficiencies
Lipoprotein Disorder	Hypolipoproteinemias
Lipoprotein	Lipoprotein Deficiency
Hypolipidaemia	Lipoprotein Deficiency Disorder
High-Density Lipoid Deficiency	High-Density Lipoprotein Deficiency
Dyslipidaemia, Depressed Hdl Cholesterol

Marinesco-Sjogren Syndrome

Marinesco-Sjögren Syndrome	MSS
Marinesco-Garland Syndrome	Garland-Moorhouse Syndrome
Hereditary Oligophrenic Cerebello-Lental Degeneration	Oligophrenic Cerebellolenticular Degeneration
Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism	Marinesco-Sjogren Syndrome-Myopathy
Marinesco-Sjogren-Garland Syndrome	Marinesco-Sjoegren Syndrome

Abetalipoproteinemia

Acanthocytosis	ABL
Bassen-Kornzweig Syndrome	Mtp Deficiency
Familial Hypobetalipoproteinemia	Abetalipoproteinaemia
Microsomal Triglyceride Transfer Protein Deficiency	Microsomal Triglyceride Transfer Protein Deficiency Disease
Abetalipoproteinemia Neuropathy	Apolipoprotein B Deficiency
Bassen-Kornzweig Disease	Betalipoprotein Deficiency Disease
Congenital Betalipoprotein Deficiency Syndrome	Homozygous Familial Hypobetalipoproteinemia
Fhbl	Bassen Kornzweig Syndrome
Hypobetalipoproteinemia, Familial	Hypobetalipoproteinemia
Hypobetalipoproteinemias	Hypobetalipoproteinemia, Familial, Apolipoprotein B

Hypobetalipoproteinemia, Familial, 2

Familial Hypobetalipoproteinemia 2	FHBL2
Hypolipidemia, Familial, Combined	Combined Familial Hypolipidemia
Combined Hypobetalipoproteinemia Familial	Hypobetalipoproteinemia, Familial, Type 2

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12443	SAR1B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SAR1B	RGD	RGD:1305590
Canis familiaris	SAR1B	VGNC	VGNC:45865
Bos taurus	SAR1B	VGNC	VGNC:34287
Macaca mulatta	SAR1B	VGNC	VGNC:76970
Felis catus	SAR1B	VGNC	VGNC:64873
Mus musculus	SAR1B	MGD	MGI:1913647

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