WB, IP
H M R
Endogenous
140-150
Rabbit
#Q8TEV9
140775
Product Information
Product Usage Information
| Application | Dilution |
|---|---|
| Western Blotting | 1:1000 |
| Immunoprecipitation | 1:50 |
Storage
Specificity / Sensitivity
Species Reactivity:
Human, Mouse, Rat
Source / Purification
Polyclonal antibodies are produced by immunizing animals with a synthetic peptide corresponding to residues surrounding Ala540 of human SMCR8 protein. Antibodies are purified by protein A and peptide affinity chromatography.
Background
SMCR8 (Smith-Magenis chromosome region 8) was characterized as a member of the DENN (differentially expressed in normal and neoplastic cells) domain family that typically function in intracellular membrane trafficking as guanine exchange factors for Rab GTPases (1). Deletion of the SMCR8 gene was found in patients having Smith-Magenis syndrome, a rare developmental disorder (2,3). SMCR8 interacts with another DENN protein C9orf72, and the WD repeat containing protein WDR41, that function as a guanine exchange factor for Rab8a and Rab39b and regulate autophagy (4). Interestingly, C9orf72 is also associated with neurodegenerative diseases including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) (5,6). C9orf72 and SMCR8 were found to have multifaceted roles in autophagy and lysosomal signaling (reviewed 7). SMCR8 can be phosphorylated by kinases with roles in autophagy including TBK1 and ULK1 (4). Indeed, the complex containing C9orf72, SMCR8, and WDR41 associates with the ULK1 complex essential for initiation of autophagy (8). Furthermore, SMCR8 was found in an RNAi screen as a regulator of ULK1 activity and both initiation and maturation of autophagosomes (9). Knockdown of SMCR8 in vivo has led to inflammatory and autoimmune phenotypes as well as inhibition of autophagy, elevated activity of mTORC1 and Akt, and decreased lysosomal biogenesis (10-13).
- Zhang, D. et al. (2012) Front Genet 3, 283.
- Smith, A.C. et al. (1986) Am J Med Genet 24, 393-414.
- Greenberg, F. et al. (1991) Am J Hum Genet 49, 1207-18.
- Sellier, C. et al. (2016) EMBO J 35, 1276-97.
- DeJesus-Hernandez, M. et al. (2011) Neuron 72, 245-56.
- Renton, A.E. et al. (2011) Neuron 72, 257-68.
- Jung, J. and Behrends, C. (2017) Small GTPases, 1-9.
- Sullivan, P.M. et al. (2016) Acta Neuropathol Commun 4, 51.
- Jung, J. et al. (2017) Elife 6, pii: e23063. doi: 10.7554/eLife.23063.
- Yang, M. et al. (2016) Sci Adv 2, e1601167.
- Zhang, Y. et al. (2018) Genes Dev 32, 929-43.
- Lan, Y. et al. (2019) Autophagy 15, 871-85.
- McAlpine, W. et al. (2018) Proc Natl Acad Sci U S A 115, E11523-31.
Species Reactivity
Species reactivity is determined by testing in at least one approved application (e.g., western blot).
Western Blot Buffer
IMPORTANT: For western blots, incubate membrane with diluted primary antibody in 5% w/v BSA, 1X TBS, 0.1% Tween® 20 at 4°C with gentle shaking, overnight.
Applications Key
WB: Western Blotting IP: Immunoprecipitation
Cross-Reactivity Key
H: human M: mouse R: rat Hm: hamster Mk: monkey Vir: virus Mi: mink C: chicken Dm: D. melanogaster X: Xenopus Z: zebrafish B: bovine Dg: dog Pg: pig Sc: S. cerevisiae Ce: C. elegans Hr: horse GP: Guinea Pig Rab: rabbit All: all species expected
Trademarks and Patents
限制使用
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