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SAR1B - secretion associated Ras related GTPase 1B Gene

Also Known as ANDD; CMRD; GTBPB; SARA2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51128

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	Références	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	Références	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	Références	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS12443	SAR1B Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	SAR1B	NCBI