Dataset Information

RGS10L phosphorylation site determination Top-Down

ABSTRACT: The phosphorylation sites of 4 recombinant RGS10L variants were determined using Top-Down study.

INSTRUMENT(S): Orbitrap Fusion Lumos

ORGANISM(S): Escherichia Coli Mus Musculus (mouse)

SUBMITTER: Motoshi Suzuki

LAB HEAD: Kirk M. Druey

PROVIDER: PXD023752 | Pride | 2021-11-03

REPOSITORIES: Pride

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Dataset's files

Source:

			Action	DRS
	PI20-24676-L2-WTK-50ng-LoHi-ETD8.msf	Msf
	PI20-24676-L2-WTK-50ng-LoHi-ETD8.pdResult	Other
	PI20-24676-L2-WTK-50ng-LoHi-ETD8.raw	Raw
	PI20-24676-L2-WTK-50ng-LoHi-ETD8_1.puf	Other
	PI20-24676-L2-WTK-50ng-LoHi-ETD8_2.puf	Other

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Publications

Short stature and combined immunodeficiency associated with mutations in RGS10.

Chinn Ivan K IK Xie Zhihui Z Chan Eunice C EC Nagata Bianca M BM Koval Alexey A Chen Wei-Sheng WS Zhang Fan F Ganesan Sundar S Hong Diana N DN Suzuki Motoshi M Nardone Glenn G Moore Ian N IN Katanaev Vladimir L VL Balazs Andrea E AE Liu Chengyu C Lupski James R JR Orange Jordan S JS Druey Kirk M KM

Science signaling 20210727 693

We report the clinical and molecular phenotype of three siblings from one family, who presented with short stature and immunodeficiency and carried uncharacterized variants in <i>RGS10</i> (c.489_491del:p.E163del and c.G511T:p.A171S). This gene encodes regulator of G protein signaling 10 (RGS10), a member of a large family of GTPase-activating proteins (GAPs) that targets heterotrimeric G proteins to constrain the activity of G protein-coupled receptors, including receptors for chemoattractants. ...[more]

PMID: 34315806

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