RAPSN receptor-associated protein of the synapse [Homo sapiens] - Gene

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Summary

Official Symbol: RAPSNprovided by HGNC
Official Full Name: receptor-associated protein of the synapseprovided by HGNC
Primary source: HGNC:9863
See related: Ensembl:ENSG00000165917; HPRD:03353; MIM:601592; Vega:OTTHUMG00000166891
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RAPSYN; RNF205; MGC3597
Summary: This gene encodes a member of a family of proteins that are receptor associated proteins of the synapse. The encoded protein contains a conserved cAMP-dependent protein kinase phosphorylation site, and plays a critical role in clustering and anchoring nicotinic acetylcholine receptors at synaptic sites by linking the receptors to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin. Mutations in this gene may play a role in postsynaptic congenital myasthenic syndromes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2011]

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Genomic context

Location :: 11p11.2

Sequence :: Chromosome: 11; NC_000011.9 (47459308..47470730, complement)

See RAPSN in Epigenomics, MapViewer

Chromosome 11 - NC_000011.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

a mutation of the RAPSN gene may have a role in development of congenital myasthenic syndrome after general anaesthesia [case report]
Title: Diagnosis of congenital myasthenic syndrome with mutation of the RAPSN gene after general anaesthesia.
Investigation of mutations in RAPSN determines that patients with congenital myasthenic syndrome can be misdiagnosed with seronegative myasthenia gravis.
Title: Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients.
An allelic quantification on patient's DNA identified three novel multi-exon deletions of RAPSN.
Title: Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing.
nAChR mobility in plasma membranes of myoblast cells during their differentiation to myotubes in the presence and absence of rapsyn
Title: Acetylcholine receptor organization in membrane domains in muscle cells: evidence for rapsyn-independent and rapsyn-dependent mechanisms.
All but 1 patient presented early in life and most responded to cholinergic agonists. With early diagnosis and therapy, rapsyn deficiency has a benign course in most patients.
Title: Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.
No CHRNA1, CHRNB1, or CHRND mutations were detected, but a homozygous RAPSN frameshift mutation, c.1177-1178delAA, was identified in a family with three children affected with lethal fetal akinesia sequence.
Title: Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.
Twenty patients with the recessive form of congenital myasthenic syndrome with no mutations in the AChR subunit have been tested for this gene; five patients have been found to carry mutations.
Title: Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes.
Four patients from four different families with RAPSN mutations and congenital myasthenic syndrome
Title: Identification of pathogenic mutations in the human rapsyn gene.
E-box mutations in the RAPSN promoter region may have a role in congenital myasthenic syndrome
Title: E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome.
recombination events may have occurred within the rapsyn gene and that this may have implications in the phenotypic expression of postsynaptic congenital myasthenic syndrome
Title: Common founder effect of rapsyn N88K studied using intragenic markers.

Submit: New GeneRIF Correction See all (15)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Fetal akinesia deformation sequence

MIM: 208150

Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency

MIM: 608931

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Products	Interactant	Other Gene	Source	Pubs	Description
Q13702	P11230	CHRNB1	HPRD	PubMed
Q13702	Q14118	DAG1	HPRD	PubMed
Q13702	P62993	GRB2	HPRD	PubMed
Q13702	Q07666	KHDRBS1	HPRD	PubMed
Q13702	O15146	MUSK	HPRD	PubMed
BioGRID:111848	BioGRID:107975	DAG1	BioGRID	PubMed	Co-localization
BioGRID:111848	BioGRID:115900	KHDRBS1	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:111848	BioGRID:122419	UBE2Z	BioGRID	PubMed	Two-hybrid

Function	Evidence Code	Pubs
acetylcholine receptor binding	IDA Inferred from Direct Assay more info	PubMed
binding	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info
zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
positive regulation of neuron apoptosis	IEA Inferred from Electronic Annotation more info
synaptic transmission	TAS Traceable Author Statement more info	PubMed
synaptic transmission, cholinergic	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
Golgi apparatus	IEA Inferred from Electronic Annotation more info
cell junction	IEA Inferred from Electronic Annotation more info
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytoskeleton	IEA Inferred from Electronic Annotation more info
neuromuscular junction	IEA Inferred from Electronic Annotation more info
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
postsynaptic membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: 43 kDa receptor-associated protein of the synapse

Names: 43 kDa receptor-associated protein of the synapse; RING finger protein 205; 43 kda postsynaptic protein; acetylcholine receptor-associated 43 kda protein

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008312.1 RefSeqGene

Range

5001..16423

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005055.4 → NP_005046.2 43 kDa receptor-associated protein of the synapse isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC090559, AF449218

Consensus CDS

CCDS7936.1

UniProtKB/Swiss-Prot

Q13702

Related

ENSP00000298854, OTTHUMP00000234335, ENST00000298854, OTTHUMT00000391726

Conserved Domains (4) summary

cd00189
Location:124 – 235
Blast Score: 121

TPR; Tetratricopeptide repeat domain; typically contains 34 amino acids [WLF]-X(2)-[LIM]-[GAS]-X(2)-[YLF]-X(8)-[ASE]-X(3)-[FYL]-X(2)-[ASL]-X(4)-[PKE] is the consensus sequence; found in a variety of organisms including bacteria, cyanobacteria, yeast, fungi, ...

pfam10579
Location:1 – 80
Blast Score: 350

Rapsyn_N; Rapsyn N-terminal myristoylation and linker region

pfam13424
Location:204 – 275
Blast Score: 112

TPR_12; Tetratricopeptide repeat

cl15348
Location:363 – 405
Blast Score: 101

RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
NM_032645.4 → NP_116034.2 43 kDa receptor-associated protein of the synapse isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks two consecutive exons in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC090559, BC004196

Consensus CDS

CCDS7937.1

UniProtKB/Swiss-Prot

Q13702

Related

ENSP00000298853, OTTHUMP00000234336, ENST00000352508, OTTHUMT00000391728

Conserved Domains (3) summary

cd00189
Location:124 – 235
Blast Score: 121

TPR; Tetratricopeptide repeat domain; typically contains 34 amino acids [WLF]-X(2)-[LIM]-[GAS]-X(2)-[YLF]-X(8)-[ASE]-X(3)-[FYL]-X(2)-[ASL]-X(4)-[PKE] is the consensus sequence; found in a variety of organisms including bacteria, cyanobacteria, yeast, fungi, ...

pfam10579
Location:1 – 80
Blast Score: 350

Rapsyn_N; Rapsyn N-terminal myristoylation and linker region

cl15348
Location:304 – 346
Blast Score: 97

RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000011.9 Reference GRCh37.p5 Primary Assembly

Range

47459308..47470730, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000143.1 Alternate HuRef

Range

47159075..47170494, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC090559.7 (62228..73650)	None
genomic	CH471064.2	EAW67914.1
		EAW67915.1
mRNA	AF449218.1	AAL86639.1
mRNA	AK310002.1	None
mRNA	BC004196.2	AAH04196.1
mRNA	Z33905.1	CAA83954.1