SAR1B

Secretion associated, Ras related GTPase 1B
PDB rendering based on 1f6b.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 1f6b​, 2fa9​, 2fmx​
Identifiers
Symbols	SAR1B ; ANDD; CMRD; GTBPB; SARA2
External IDs	OMIM: 607690 MGI: 1913647 HomoloGene: 90905 GeneCards: SAR1B Gene
Gene ontology Molecular function • GTPase activity • GTP binding • metal ion binding Cellular component • endoplasmic reticulum membrane • cytosol • ER to Golgi transport vesicle membrane • Golgi cisterna membrane Biological process • antigen processing and presentation of peptide antigen via MHC class I • intracellular protein transport • ER to Golgi vesicle-mediated transport • protein N-linked glycosylation via asparagine • antigen processing and presentation of exogenous peptide antigen via MHC class II • post-translational protein modification • cellular protein metabolic process • small molecule metabolic process • COPII vesicle coating • membrane organization Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	51128	66397
Ensembl	ENSG00000152700	ENSMUSG00000020386
UniProt	Q9Y6B6	Q9CQC9
RefSeq (mRNA)	NM_001033503	NM_025535
RefSeq (protein)	NP_001028675	NP_079811
Location (UCSC)	Chr 5: 134.6 – 134.65 Mb	Chr 11: 51.76 – 51.79 Mb
PubMed search

SAR1 gene homolog B (S. cerevisiae), also known as SAR1B, is a protein which in humans is encoded by the SAR1B gene.^[1][2]

Function

SAR1B belongs to the Sar1-ADP ribosylation factor family of small GTPases,^[3] which govern the intracellular trafficking of proteins in coat protein (COP)-coated vesicles.^[4]

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.^[5]

References

1. "Entrez Gene: SAR1B SAR1 gene homolog B (S. cerevisiae)".
2. 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 Expr. 10 (5–6): 231–42. PMID 12450215.
3. Takai Y, Sasaki T, Matozaki T (January 2001). "Small GTP-binding proteins". Physiol. Rev. 81 (1): 153–208. PMID 11152757.
4. Schekman R, Orci L (March 1996). "Coat proteins and vesicle budding". Science 271 (5255): 1526–33. doi:10.1126/science.271.5255.1526. PMID 8599108.
5. 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". Nat. Genet. 34 (1): 29–31. doi:10.1038/ng1145. PMID 12692552.

Further reading

• Jardim DL, da Cunha AF, Duarte Ada S, et al. (2005). "Expression of Sara2 human gene in erythroid progenitors". J. Biochem. Mol. Biol. 38 (3): 328–33. PMID 15943909.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Jones B, Jones EL, Bonney SA, et al. (2003). "Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders". Nat. Genet. 34 (1): 29–31. doi:10.1038/ng1145. PMID 12692552.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Aguglia U, Annesi G, Pasquinelli G, et al. (2000). "Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjögren syndrome". Ann. Neurol. 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, et al. (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 (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.