Gene Ontology Classifications

Symbol
Name
ID

Rapsn
receptor-associated protein of the synapse
MGI:99422

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Automated description from the Alliance of Genome Resources (Release 7.4.0)

Enables acetylcholine receptor binding activity and protein-macromolecule adaptor activity. A structural constituent of postsynaptic specialization. Involved in neurotransmitter receptor localization to postsynaptic specialization membrane and skeletal muscle acetylcholine-gated channel clustering. Acts upstream of or within positive regulation of motor neuron apoptotic process. Located in Golgi apparatus; plasma membrane; and synapse. Is active in neuromuscular junction and postsynaptic specialization membrane. Is expressed in several structures, including central nervous system; embryo mesenchyme; forelimb bud; limb; and skeletal musculature. Used to study congenital myasthenic syndrome 11. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 11 and fetal akinesia deformation sequence syndrome 2. Orthologous to human RAPSN (receptor associated protein of the synapse).

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Aspect

Category

Evidence

Gene Ontology Evidence Code Abbreviations:

Experimental:

EXP: Inferred from experiment
HMP: Inferred from high throughput mutant phenotype
HGI: Inferred from high throughput genetic interaction
HDA: Inferred from high throughput direct assay
HEP: Inferred from high throughput expression pattern
IDA: Inferred from direct assay
IEP: Inferred from expression pattern
IGI: Inferred from genetic interaction
IMP: Inferred from mutant phenotype
IPI: Inferred from physical interaction

Homology:

IAS: Inferred from ancestral sequence
IBA: Inferred from biological aspect of ancestor
IBD: Inferred from biological aspect of descendant
IKR: Inferred from key residues
IMR: Inferred from missing residues
IRD: Inferred from rapid divergence
ISA: Inferred from sequence alignment
ISM: Inferred from sequence model
ISO: Inferred from sequence orthology
ISS: Inferred from sequence or structural similarity

Automated:

IEA: Inferred from electronic annotation
RCA: Reviewed computational analysis

Other:

IC: Inferred by curator
NAS: Non-traceable author statement
ND: No biological data available
TAS: Traceable author statement

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Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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