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

Summary

Official Symbol: RAPSNprovided by HGNC
Official Full Name: receptor associated protein of the synapseprovided by HGNC
Primary source: HGNC:HGNC:9863
See related: Ensembl:ENSG00000165917 MIM:601592; AllianceGenome:HGNC:9863
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: FADS; CMS11; CMS4C; FADS2; RAPSYN; RNF205
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]
Expression: Biased expression in placenta (RPKM 1.3), prostate (RPKM 0.9) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p11.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (47437764..47449136, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (47597603..47608976, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (47459315..47470688, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature.
Title: Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature.
The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome.
Title: The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome.
The association between RAPSN methylation in peripheral blood and breast cancer in the Chinese population.
Title: The association between RAPSN methylation in peripheral blood and breast cancer in the Chinese population.
Membraneless condensates by Rapsn phase separation as a platform for neuromuscular junction formation.
Title: Membraneless condensates by Rapsn phase separation as a platform for neuromuscular junction formation.
In investigating how N88K missense mutation in Rapsn impairs the neuromuscular junction, the authors uncovered a novel signaling pathway by which Agrin-LRP4-MuSK induces tyrosine phosphorylation of Rapsn, which is required for its self-association and E3 ligase activity.
Title: A mechanism in agrin signaling revealed by a prevalent Rapsyn mutation in congenital myasthenic syndrome.
Report attributes the RAPSN mutation c.484G > A, identified in a homozygous state, to causing fetal akinesia deformation sequence.
Title: Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence.
Mutations in RAPSN and COLQ are the most common causes of congenital myasthenic syndrome in Israel.
Title: Congenital myasthenic syndrome in Israel: Genetic and clinical characterization.
Hypomethylation of CpG sites in RPTOR, MGRN1 and RAPSN in blood is associated with breast cancer.
Title: DNA methylation array analysis identifies breast cancer associated RPTOR, MGRN1 and RAPSN hypomethylation in peripheral blood DNA.
These findings uncover a new link between rapsyn, lysosome positioning, exocytosis and plasma membrane integrity.
Title: Failure of lysosome clustering and positioning in the juxtanuclear region in cells deficient in rapsyn.
Two siblings affected with typical congenital myasthenic syndrome harbor the common heterozygous (-38A-G) E-box mutation associated with a previously unreported heterozygous p.224 insT, causing an insertion of threonine in the TPR6 domain.
Title: A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Congenital myasthenic syndrome 11 MedGen: C4225367 OMIM: 616326 GeneReviews: Congenital Myasthenic Syndromes Overview	Compare labs
Fetal akinesia deformation sequence 2 MedGen: C4760576 OMIM: 618388 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acetylcholine receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables acetylcholine receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables ionotropic glutamate receptor binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-membrane adaptor activity	IEA Inferred from Electronic Annotation more info
enables structural constituent of postsynaptic specialization	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in chemical synaptic transmission	TAS Traceable Author Statement more info	PubMed
involved_in establishment of protein localization to postsynaptic membrane	IEA Inferred from Electronic Annotation more info
involved_in maintenance of postsynaptic specialization structure	IEA Inferred from Electronic Annotation more info
involved_in motor neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in neurotransmitter receptor localization to postsynaptic specialization membrane	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of motor neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuromuscular synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of postsynaptic membrane organization	IEA Inferred from Electronic Annotation more info
involved_in skeletal muscle acetylcholine-gated channel clustering	IEA Inferred from Electronic Annotation more info
involved_in synaptic transmission, cholinergic	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within synaptic transmission, cholinergic	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in centrosome	IDA Inferred from Direct Assay more info
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in neuromuscular junction	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in postsynaptic specialization membrane	IEA Inferred from Electronic Annotation more info

General protein information

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

Names: 43 kda postsynaptic protein; RING finger protein 205; acetylcholine receptor-associated 43 kda protein

NCBI Reference Sequences (RefSeq)

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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_008312.2 RefSeqGene

Range

5000..16372

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005055.5 → NP_005046.2 43 kDa receptor-associated protein of the synapse isoform 1

See identical proteins and their annotated locations for NP_005046.2

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, Q8TDF3, Q9BTD9

UniProtKB/TrEMBL

A0A0S2Z4F8, E9PK11

Related

ENSP00000298854.2, ENST00000298854.7

Conserved Domains (5) summary

COG0457
Location:9 → 239

TPR; Tetratricopeptide (TPR) repeat [General function prediction only]

sd00006
Location:127 → 151

TPR; TPR repeat [structural motif]

pfam13424
Location:204 → 278

TPR_12; Tetratricopeptide repeat

pfam13639
Location:363 → 403

zf-RING_2; Ring finger domain

cl24038
Location:1 → 80

SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family
NM_032645.5 → NP_116034.2 43 kDa receptor-associated protein of the synapse isoform 2

See identical proteins and their annotated locations for NP_116034.2

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/TrEMBL

A0A0S2Z4M9, E9PK11

Related

ENSP00000298853.3, ENST00000352508.7

Conserved Domains (4) summary

COG0457
Location:9 → 239

TPR; Tetratricopeptide (TPR) repeat [General function prediction only]

sd00006
Location:127 → 151

TPR; TPR repeat [structural motif]

cd16478
Location:301 → 345

RING-H2_Rapsyn; RING finger, H2 subclass, found in 43 kDa receptor-associated protein of the synapse (Rapsyn) and similar proteins

cl24038
Location:1 → 80

SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

47437764..47449136 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005253043.4 → XP_005253100.1 43 kDa receptor-associated protein of the synapse isoform X3

UniProtKB/TrEMBL

A0A0S2Z4A2, E9PK11

Conserved Domains (5) summary

COG0457
Location:9 → 239

TPR; Tetratricopeptide (TPR) repeat [General function prediction only]

sd00006
Location:127 → 151

TPR; TPR repeat [structural motif]

pfam13424
Location:204 → 277

TPR_12; Tetratricopeptide repeat

pfam13639
Location:322 → 362

zf-RING_2; Ring finger domain

cl24038
Location:1 → 80

SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family
XM_005253042.4 → XP_005253099.1 43 kDa receptor-associated protein of the synapse isoform X2

UniProtKB/TrEMBL

A0A0S2Z4A6, E9PK11

Conserved Domains (5) summary

COG0457
Location:9 → 239

TPR; Tetratricopeptide (TPR) repeat [General function prediction only]

sd00006
Location:127 → 151

TPR; TPR repeat [structural motif]

pfam13424
Location:204 → 278

TPR_12; Tetratricopeptide repeat

pfam13639
Location:345 → 385

zf-RING_2; Ring finger domain

cl24038
Location:1 → 80

SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family
XM_011520252.1 → XP_011518554.1 43 kDa receptor-associated protein of the synapse isoform X1

Conserved Domains (4) summary

COG0457
Location:9 → 239

TPR; Tetratricopeptide (TPR) repeat [General function prediction only]

sd00006
Location:127 → 151

TPR; TPR repeat [structural motif]

pfam13424
Location:204 → 278

TPR_12; Tetratricopeptide repeat

cl24038
Location:1 → 80

SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

47597603..47608976 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054369594.1 → XP_054225569.1 43 kDa receptor-associated protein of the synapse isoform X3

UniProtKB/TrEMBL

E9PK11
XM_054369593.1 → XP_054225568.1 43 kDa receptor-associated protein of the synapse isoform X2

UniProtKB/TrEMBL

E9PK11
XM_054369592.1 → XP_054225567.1 43 kDa receptor-associated protein of the synapse isoform X1