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FLASH GENE

Symbol

RAPSN

contributors: mct - updated : 09-07-2010

HGNC name	receptor-associated protein of the synapse
HGNC id	9863

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005055 8 - 1664 NP_005046 - 412 - Buckel (1996) NM_032645 6 - 1541 NP_116034 - 353 - Buckel (1996)

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Digestive mouth tongue       Visual eye

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, neonatal

Text	eye, lens, eye anterior segment retina foveal, macular choroid, RPE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal myristoylation site
	eight tandem tetratricopeptide repeats (TPR)
	a C terminal RING zinc binding motif, essential for cholinergic receptors clustering
	coiled-coil domain
	a CAMP-dependent protein kinase phosphorylation site

conjugated

LipoP , PhosphoP

HOMOLOGY

interspecies	homolog to murine Rapsn (95.6pc)
	homolog to rattus Rapsn (96.6pc)

Homologene

FAMILY

RAPsyn family

CATEGORY

regulatory , signaling neurotransmitter , receptor

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytoskeleton
text	surface of the postsynaptic membrane
	located at the cell junction, synpase

basic FUNCTION	involved in the clustering and anchoring of the receptors in the membrane
	involved in anchoring or stabilizing the nicotinic acetylcholine receptor at synaptic sites
	may link the receptor to the underlying postsynaptic cytoskeleton possibly by direct association with actin or spectrin

CELLULAR PROCESS	nucleotide
	cell organization/biogenesis

PHYSIOLOGICAL PROCESS

nervous system

PATHWAY

metabolism

signaling

neurotransmission

synaptic transmission

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	ions Zn2+ binding

protein	acetylcholine receptor associated
	CANNTG binded to the E-box promoter sequence for differentiation and specification of muscle cells
	ACTN2 interacts with rapsyn (RAPSN-actinin interaction can be disrupted by inhibiting ABL1 and by cholinergic stimulation)
	CSNK2A1 interacts at the neuromuscular synapse with RAPSN, RAC1, YWHAG, and DOK7 proteins and phosphorylates the latter two

cell & other

REGULATION

Other

regulated by CTNND2, ZBTB33 and myogenic transcription factors (Rodova 2004)

ASSOCIATED DISORDERS

corresponding disease(s)

CMSP , MPTLT2

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS