GeneID: 84
Names
Common Name: | SAR1A | Type: | Gene |
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Chromosome: | 10 (NC_000010.11) | Locus: | NM_001142648.2 (SAR1A) |
HUGO Symbol: | SAR1A | Full Name: | secretion associated Ras related GTPase 1A |
Exons: | 8 | Introns: | 6 |
Description:
The SAR1A gene encodes a small GTP-binding protein (G protein) with a key function in intracellular vesicle trafficking. It is involved in transport from the endoplasmic reticulum (ER) to the Golgi apparatus by regulating the budding of vesicles. This process requires the assembly of proteins coating the cytoplasmic face of the ER membrane.The SAR1 protein is activated by the guanine nucleotide exchange factor Sec 12, an integral ER protein, to expose an amphipathic helix that penetrates the ER membrane. Then, the activated protein (SAR1-GTP) mediates the membrane recruitment of the COP (coat protein) II components, forming COPII-coated vesicles. Moreover, GTP hydrolysis on SAR1 has been implicated in membrane fission. SAR1A participates in γ-globin expression and erythroid cell maturation after hydroxyurea treatmennt by regulating PI3 kinase/ERK and GATA-2/p21-dependent signal transduction pathways. Furthermore, activation of the Gia/JNK/Jun proteins is required for SAR1-mediated HbF induction. Polymorphisms in this gene associated with HbF levels in sickle cell patients.
Synonyms: SAR1 , Sara
Comments:
N/A
Number of entries/variants: 14
Sequence Viewer
Publications / Origin
- Takai Y, Sasaki T, Matozaki T, Small GTP-binding proteins., Physiol. Rev. , 81(1), 153-208, 2001 PubMed
- Barlowe C, COPII-dependent transport from the endoplasmic reticulum., Curr. Opin. Cell Biol. , 14(4), 417-22, 2002 PubMed
- Tang DC, Zhu J, Liu W, Chin K, Sun J, Chen L, Hanover JA, Rodgers GP, The hydroxyurea-induced small GTP-binding protein SAR modulates gamma-globin gene expression in human erythroid cells., Blood , 106(9), 3256-63, 2005 PubMed
- Fertrin KY, Costa FF, Genomic polymorphisms in sickle cell disease: implications for clinical diversity and treatment., Expert Rev Hematol , 3(4), 443-58, 2010 PubMed
- Zhu J, Chin K, Aerbajinai W, Kumkhaek C, Li H, Rodgers GP, Hydroxyurea-inducible SAR1 gene acts through the Giα/JNK/Jun pathway to regulate γ-globin expression., Blood , 124(7), 1146-56, 2014 PubMed
- Hanna MG, Mela I, Wang L, Henderson RM, Chapman ER, Edwardson JM, Audhya A, Sar1 GTPase Activity Is Regulated by Membrane Curvature., J. Biol. Chem. , 291(3), 1014-27, 2016 PubMed
A/A | Date | Curator(s) | Comments |
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1 | 2016-04-26 17:07:13 | The IthaGenes Curation Team | Created |
2 | 2016-10-24 15:55:41 | The IthaGenes Curation Team | Reviewed. Gene description updated. Reference added. |
3 | 2017-01-30 11:28:33 | The IthaGenes Curation Team | Reviewed. Gene description updated. Reference added. |
4 | 2017-07-17 16:12:08 | The IthaGenes Curation Team | Reviewed. Gene information updated. Reference added. |