SAR1B

SAR1B
Identifiers
Aliases	SAR1B, ANDD, CMRD, GTBPB, SARA2, secretion associated Ras related GTPase 1B
External IDs	OMIM: 607690 MGI: 1913647 HomoloGene: 90905 GeneCards: SAR1B
Gene location (Human)
Chr.	Chromosome 5 (human)
End	134,649,271 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	51,682,752 bp
RNA expression pattern
	Top expressed in
	biceps brachii; ; vastus lateralis muscle; ; corpus callosum; ; jejunal mucosa; ; deltoid muscle; ; liver; ; quadriceps femoris muscle; ; gastrocnemius muscle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	nucleotide binding; GTP binding; metal ion binding; GO:0006184 GTPase activity;
Cellular component	cytosol; Golgi apparatus; endoplasmic reticulum membrane; membrane; intracellular anatomical structure; Golgi cisterna membrane; endoplasmic reticulum; ER to Golgi transport vesicle membrane; COPII vesicle coat; endoplasmic reticulum exit site;
Biological process	antigen processing and presentation of exogenous peptide antigen via MHC class II; antigen processing and presentation of peptide antigen via MHC class I; endoplasmic reticulum to Golgi vesicle-mediated transport; COPII vesicle coating; protein transport; intracellular protein transport; vesicle-mediated transport; regulation of COPII vesicle coating; vesicle organization; membrane organization; positive regulation of protein exit from endoplasmic reticulum;
	Sources:Amigo / QuickGO
Orthologs
	51128
	66397
	ENSG00000152700
	ENSMUSG00000020386
	Q9Y6B6
	Q9CQC9
	NM_016103; NM_001033503
	NM_025535
	NP_001028675; NP_057187
	NP_079811
	Wikidata
View/Edit Human	View/Edit Mouse

SAR1 gene homolog B (S. cerevisiae), also known as SAR1B, is a protein which in humans is encoded by the SAR1B gene.^[5]^[6]

Function[]

SAR1B belongs to the Sar1-ADP ribosylation factor family of small GTPases,^[7] which govern the intracellular trafficking of proteins in coat protein (COP)-coated vesicles.^[8]

Clinical significance[]

Mutations in the SAR1B gene are associated with chylomicron retention disease (also known as Anderson disease) which is an autosomal recessive disorder of severe fat malabsorption.^[9]

References[]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000152700 - Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000020386 - Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: SAR1B SAR1 gene homolog B (S. cerevisiae)".
^ He H, Dai F, Yu L, She X, Zhao Y, Jiang J, Chen X, Zhao S (2002). "Identification and characterization of nine novel human small GTPases showing variable expressions in liver cancer tissues". Gene Expression. 10 (5–6): 231–42. doi:10.3727/000000002783992406. PMC 5977521. PMID 12450215.
^ Takai Y, Sasaki T, Matozaki T (January 2001). "Small GTP-binding proteins". Physiological Reviews. 81 (1): 153–208. doi:10.1152/physrev.2001.81.1.153. PMID 11152757.
^ Schekman R, Orci L (March 1996). "Coat proteins and vesicle budding". Science. 271 (5255): 1526–33. Bibcode:1996Sci...271.1526S. doi:10.1126/science.271.5255.1526. PMID 8599108. S2CID 30752342.
^ Jones B, Jones EL, Bonney SA, Patel HN, Mensenkamp AR, Eichenbaum-Voline S, Rudling M, Myrdal U, Annesi G, Naik S, Meadows N, Quattrone A, Islam SA, Naoumova RP, Angelin B, Infante R, Levy E, Roy CC, Freemont PS, Scott J, Shoulders CC (May 2003). "Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders". Nature Genetics. 34 (1): 29–31. doi:10.1038/ng1145. PMID 12692552. S2CID 10543077.

Further reading[]

Jardim DL, da Cunha AF, Duarte Ada S, dos Santos CO, Saad ST, Costa FF (May 2005). "Expression of Sara2 human gene in erythroid progenitors". Journal of Biochemistry and Molecular Biology. 38 (3): 328–33. doi:10.5483/bmbrep.2005.38.3.328. PMID 15943909.
Jones B, Jones EL, Bonney SA, Patel HN, Mensenkamp AR, Eichenbaum-Voline S, Rudling M, Myrdal U, Annesi G, Naik S, Meadows N, Quattrone A, Islam SA, Naoumova RP, Angelin B, Infante R, Levy E, Roy CC, Freemont PS, Scott J, Shoulders CC (May 2003). "Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders". Nature Genetics. 34 (1): 29–31. doi:10.1038/ng1145. PMID 12692552. S2CID 10543077.
Aguglia U, Annesi G, Pasquinelli G, Spadafora P, Gambardella A, Annesi F, Pasqua AA, Cavalcanti F, Crescibene L, Bagalà A, Bono F, Oliveri RL, Valentino P, Zappia M, Quattrone A (February 2000). "Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjögren syndrome". Annals of Neurology. 47 (2): 260–4. doi:10.1002/1531-8249(200002)47:2<260::AID-ANA21>3.0.CO;2-V. PMID 10665502.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.

This article on a gene on human chromosome 5 is a stub. You can help Wikipedia by .

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000152700 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000020386 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: SAR1B SAR1 gene homolog B (S. cerevisiae)".

[pmid12450215-6] He H, Dai F, Yu L, She X, Zhao Y, Jiang J, Chen X, Zhao S (2002). "Identification and characterization of nine novel human small GTPases showing variable expressions in liver cancer tissues". Gene Expression. 10 (5–6): 231–42. doi:10.3727/000000002783992406. PMC 5977521. PMID 12450215.

[pmid11152757-7] Takai Y, Sasaki T, Matozaki T (January 2001). "Small GTP-binding proteins". Physiological Reviews. 81 (1): 153–208. doi:10.1152/physrev.2001.81.1.153. PMID 11152757.

[pmid8599108-8] Schekman R, Orci L (March 1996). "Coat proteins and vesicle budding". Science. 271 (5255): 1526–33. Bibcode:1996Sci...271.1526S. doi:10.1126/science.271.5255.1526. PMID 8599108. S2CID 30752342.

[pmid12692552-9] Jones B, Jones EL, Bonney SA, Patel HN, Mensenkamp AR, Eichenbaum-Voline S, Rudling M, Myrdal U, Annesi G, Naik S, Meadows N, Quattrone A, Islam SA, Naoumova RP, Angelin B, Infante R, Levy E, Roy CC, Freemont PS, Scott J, Shoulders CC (May 2003). "Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders". Nature Genetics. 34 (1): 29–31. doi:10.1038/ng1145. PMID 12692552. S2CID 10543077.

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