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PMID:21187406

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Citation

Valkova, C, Albrizio, M, Röder, IV, Schwake, M, Betto, R, Rudolf, R and Kaether, C (2011) Sorting receptor Rer1 controls surface expression of muscle acetylcholine receptors by ER retention of unassembled alpha-subunits. Proc. Natl. Acad. Sci. U.S.A. 108:621-5

Abstract

The nicotinic acetylcholine receptor of skeletal muscle is composed of five subunits that are assembled in a stepwise manner. Quality control mechanisms ensure that only fully assembled receptors reach the cell surface. Here, we show that Rer1, a putative Golgi-ER retrieval receptor, is involved in the biogenesis of acetylcholine receptors. Rer1 is expressed in the early secretory pathway in the myoblast line C2C12 and in mouse skeletal muscle, and up-regulated during myogenesis. Upon down-regulation of Rer1 in C2C12 cells, unassembled acetylcholine receptor α-subunits escape from the ER and are transported to the plasma membrane and lysosomes, where they are degraded. As a result, the amount of fully assembled receptor at the cell surface is reduced. In vivo Rer1 knockdown and genetic inactivation of one Rer1 allele lead to significantly smaller neuromuscular junctions in mice. Our data show that Rer1 is a functionally important unique factor that controls surface expression of muscle acetylcholine receptors by localizing unassembled α-subunits to the early secretory pathway.

Links

PubMed PMC3021032 Online version:10.1073/pnas.1001624108

Keywords

Alleles; Animals; Cell Membrane/metabolism; Down-Regulation; Endoplasmic Reticulum/metabolism; Lysosomes/metabolism; Membrane Glycoproteins/physiology; Mice; Mice, Transgenic; Muscle, Skeletal/metabolism; Muscles/metabolism; Protein Transport; Receptors, Cholinergic/metabolism; Receptors, Cytoplasmic and Nuclear/genetics; Receptors, Cytoplasmic and Nuclear/physiology; Reverse Transcriptase Polymerase Chain Reaction; Up-Regulation

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

MOUSE:ACHA

enables

GO:0005515: protein binding

ECO:0000353: physical interaction evidence used in manual assertion

PR:Q9CQU3

F

Seeded From UniProt

complete

MOUSE:ACHA

located_in

GO:0009986: cell surface

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:CALR

located_in

GO:0005788: endoplasmic reticulum lumen

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:BIP

located_in

GO:0005793: endoplasmic reticulum-Golgi intermediate compartment

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:NICA

located_in

GO:0005783: endoplasmic reticulum

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:NICA

located_in

GO:0005886: plasma membrane

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:SC23A

located_in

GO:0030134: COPII-coated ER to Golgi transport vesicle

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:TGON1

located_in

GO:0005802: trans-Golgi network

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:GOGA2

located_in

GO:0005801: cis-Golgi network

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:ERD21

located_in

GO:0005801: cis-Golgi network

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:RER1

acts_upstream_of_or_within

GO:0007528: neuromuscular junction development

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:4329578

P

Seeded From UniProt

complete

MOUSE:RER1

located_in

GO:0009986: cell surface

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:RER1

located_in

GO:0005793: endoplasmic reticulum-Golgi intermediate compartment

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:RER1

acts_upstream_of_or_within

GO:0071340: skeletal muscle acetylcholine-gated channel clustering

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:4329578

P

Seeded From UniProt

complete

MOUSE:RER1

acts_upstream_of_or_within

GO:1903078: positive regulation of protein localization to plasma membrane

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:4329578

P

Seeded From UniProt

complete

MOUSE:LMAN1

located_in

GO:0005793: endoplasmic reticulum-Golgi intermediate compartment

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:RAB1B

located_in

GO:0005793: endoplasmic reticulum-Golgi intermediate compartment

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:CALR

part_of

GO:0005788: endoplasmic reticulum lumen

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:GOGA2

part_of

GO:0005801: cis-Golgi network

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:ERD21

part_of

GO:0005801: cis-Golgi network

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

Notes

See also

References

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