GeneID: 272
Names
| Common Name: | SEC31B | Type: | Gene |
|---|---|---|---|
| Chromosome: | 10 (NC_000010.11) | Locus: | NM_015490.4 (SEC31B) |
| HUGO Symbol: | SEC31B | Full Name: | SEC31 homolog B, COPII coat complex component |
| Exons: | 26 | Introns: | 25 |
Description:
The encoded protein is an orthologue of yeast Sec31p, a component of the coat protein complex II (COPII) that mediates vesicle budding and cargo export from the endoplasmic reticulum. A variation in SEC31B associated with Hb F response to hydroxyurea (HU) in sickle cell disease cohorts. The molecular mechanisms involved in HU-mediated regulation of γ-globin expression are not elucidated. Notably, the small GTPase SAR1A [GeneID: 84] that is involved in the initiation of COPII vesicle budding has been shown to participate in γ-globin expression and erythroid cell maturation after HU treatment by regulating PI3 kinase/ERK and GATA-2/p21-dependent signal transduction pathways.
Synonyms: SEC31L2 , SEC31B-1
Comments:
N/A
Number of entries/variants: 1
Publications / Origin
- Tang BL, Zhang T, Low DY, Wong ET, Horstmann H, Hong W, Mammalian homologues of yeast sec31p. An ubiquitously expressed form is localized to endoplasmic reticulum (ER) exit sites and is essential for ER-Golgi transport., J. Biol. Chem., 275(18), 13597-604, 2000
- 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
- Stankewich MC, Stabach PR, Morrow JS, Human Sec31B: a family of new mammalian orthologues of yeast Sec31p that associate with the COPII coat., J. Cell. Sci., 119(0), 958-69, 2006
- Sheehan VA, Crosby JR, Sabo A, Mortier NA, Howard TA, Muzny DM, Dugan-Perez S, Aygun B, Nottage KA, Boerwinkle E, Gibbs RA, Ware RE, Flanagan JM, Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia., PLoS ONE , 9(10), e110740, 2014