| 释义 |
- Function
- Clinical significance
- References
- Further reading
{{Infobox_gene}}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. ^{{cite web | title = Entrez Gene: SAR1B SAR1 gene homolog B (S. cerevisiae)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51128| accessdate = }}
2. ^{{cite journal | vauthors = He H, Dai F, Yu L, She X, Zhao Y, Jiang J, Chen X, Zhao S | title = Identification and characterization of nine novel human small GTPases showing variable expressions in liver cancer tissues | journal = Gene Expression | volume = 10 | issue = 5–6 | pages = 231–42 | year = 2002 | pmid = 12450215 | doi = }}
3. ^{{cite journal | vauthors = Takai Y, Sasaki T, Matozaki T | title = Small GTP-binding proteins | journal = Physiological Reviews | volume = 81 | issue = 1 | pages = 153–208 | date = January 2001 | pmid = 11152757 | doi = }}
4. ^{{cite journal | vauthors = Schekman R, Orci L | title = Coat proteins and vesicle budding | journal = Science | volume = 271 | issue = 5255 | pages = 1526–33 | date = March 1996 | pmid = 8599108 | doi = 10.1126/science.271.5255.1526 }}
5. ^{{cite journal | vauthors = 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 | title = Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders | journal = Nature Genetics | volume = 34 | issue = 1 | pages = 29–31 | date = May 2003 | pmid = 12692552 | doi = 10.1038/ng1145 }}
Further reading {{refbegin | 2}}- {{cite journal | vauthors = Jardim DL, da Cunha AF, Duarte Ada S, dos Santos CO, Saad ST, Costa FF | title = Expression of Sara2 human gene in erythroid progenitors | journal = Journal of Biochemistry and Molecular Biology | volume = 38 | issue = 3 | pages = 328–33 | date = May 2005 | pmid = 15943909 | doi = }}
- {{cite journal | vauthors = 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 | title = Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders | journal = Nature Genetics | volume = 34 | issue = 1 | pages = 29–31 | date = May 2003 | pmid = 12692552 | doi = 10.1038/ng1145 }}
- {{cite journal | vauthors = 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 | title = Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjögren syndrome | journal = Annals of Neurology | volume = 47 | issue = 2 | pages = 260–4 | date = February 2000 | pmid = 10665502 | doi = 10.1002/1531-8249(200002)47:2<260::AID-ANA21>3.0.CO;2-V }}
- {{cite journal | vauthors = Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S | title = Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library | journal = Gene | volume = 200 | issue = 1–2 | pages = 149–56 | date = October 1997 | pmid = 9373149 | doi = 10.1016/S0378-1119(97)00411-3 }}
- {{cite journal | vauthors = Maruyama K, Sugano S | title = Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides | journal = Gene | volume = 138 | issue = 1-2 | pages = 171–4 | date = January 1994 | pmid = 8125298 | doi = 10.1016/0378-1119(94)90802-8 }}
{{refend}}{{PDB Gallery|geneid=51128}}{{Acid anhydride hydrolases}}{{GTPases}}{{Intracellular signaling peptides and proteins}}{{gene-5-stub}} |