InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RAPSN

Summary

InnateDB Protein

IDBP-43432.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

RAPSN

Protein Name

receptor-associated protein of the synapse

Synonyms

RAPSYN; RNF205;

Species

Homo sapiens

Ensembl Protein

ENSP00000298853

InnateDB Gene

IDBG-43428 (RAPSN)

Protein Structure

UniProt Annotation

Function

Postsynaptic protein required for clustering of nicotinic acetylcholine receptors (nAChRs) at the neuromuscular junction. It may link the receptor to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin.

Subcellular Localization

Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell junction, synapse, postsynaptic cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Note=Cytoplasmic surface of postsynaptic membranes.

Disease Associations

Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931]: A post-synaptic congenital myasthenic syndrome. Congenital myasthenic syndromes (CMS) are inherited disorders of neuromuscular transmission that stem from mutations in presynaptic, synaptic, or postsynaptic proteins. {ECO:0000269PubMed:11791205, ECO:0000269PubMed:12730725, ECO:0000269PubMed:12796535, ECO:0000269PubMed:12929188, ECO:0000269PubMed:14504330, ECO:0000269PubMed:15036330, ECO:0000269PubMed:15328566, ECO:0000269PubMed:16931511, ECO:0000269PubMed:17594401}. Note=The disease is caused by mutations affecting the gene represented in this entry.Fetal akinesia deformation sequence (FADS) [MIM:208150]: Rare condition characterized by decreased intrauterine fetal movement, congenital limb contractures, pulmonary hypoplasia, polyhydramnios and craniofacial abnormalities. {ECO:0000269PubMed:18179903, ECO:0000269PubMed:18252226}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	7 [view]
Protein-Protein	7 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0008270	zinc ion binding
GO:0033130	acetylcholine receptor binding

Biological Process

GO:0007268	synaptic transmission
GO:0007271	synaptic transmission, cholinergic

Cellular Component

GO:0005856	cytoskeleton
GO:0030054	cell junction
GO:0045211	postsynaptic membrane

Protein Structure and Domains

PDB ID

InterPro

IPR001237 43kDa postsynaptic protein
IPR001841 Zinc finger, RING-type
IPR013026 Tetratricopeptide repeat-containing domain
IPR019568 Rapsyn, myristoylation/linker region, N-terminal
IPR019734 Tetratricopeptide repeat

PFAM

PF13639
PF14634
PF10579
PF13174
PF13176
PF13181

PRINTS

PR00217

PIRSF

SMART

SM00184
SM00028

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt