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

Gene ID: 5913, updated on 9-Jul-2017
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; 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
FADS; CMS11; CMS4C; 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]
Orthologs
mouse all
Location:
11p11.2
Exon count:
8
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (47437757..47449178, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (47459308..47470730, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 39 member 13 Neighboring gene proteasome 26S subunit, ATPase 3 Neighboring gene CUGBP Elav-like family member 1 Neighboring gene RNA, 7SL, cytoplasmic 652, pseudogene Neighboring gene protein tyrosine phosphatase, mitochondrial 1 Neighboring gene kelch repeat and BTB domain containing 4

Go to nucleotide: Graphics FASTA GenBank

  • 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 Jun 15 11:32:44 2016

Related articles in PubMed

  1. Failure of lysosome clustering and positioning in the juxtanuclear region in cells deficient in rapsyn. Aittaleb M, et al. J Cell Sci, 2015 Oct 15. PMID 26330529, Free PMC Article
  2. A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome. Leshinsky-Silver E, et al. J Neurol Sci, 2012 May 15. PMID 22326364
  3. Diagnosis of congenital myasthenic syndrome with mutation of the RAPSN gene after general anaesthesia. Gentili A, et al. Eur J Anaesthesiol, 2011 Oct. PMID 21372719
  4. Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing. Gaudon K, et al. J Med Genet, 2010 Dec. PMID 20930056
  5. Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients. Milone M, et al. Neurology, 2009 Jul 21. PMID 19620612, Free PMC Article

See all (45) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. Four patients from four different families with RAPSN mutations and congenital myasthenic syndrome
    Title: Identification of pathogenic mutations in the human rapsyn gene.
Submit: New GeneRIF Correction See all GeneRIFs (17)

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
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency
MedGen: C1837094 OMIM: 616326 GeneReviews: Not available
Compare labs
Pena-Shokeir syndrome type I
MedGen: C1276035 OMIM: 208150 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC3597

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acetylcholine receptor binding IDA
Inferred from Direct Assay
more info
 PubMed 
ionotropic glutamate receptor binding IEA
Inferred from Electronic Annotation
more info
  
metal ion binding IEA
Inferred from Electronic Annotation
more info
  
protein anchor IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
chemical synaptic transmission TAS
Traceable Author Statement
more info
 PubMed 
positive regulation of neuromuscular synaptic transmission IEA
Inferred from Electronic Annotation
more info
  
positive regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
  
regulation of postsynaptic membrane organization IEA
Inferred from Electronic Annotation
more info
  
skeletal muscle acetylcholine-gated channel clustering IEA
Inferred from Electronic Annotation
more info
  
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
  
centrosome IDA
Inferred from Direct Assay
more info
  
cytosol IDA
Inferred from Direct Assay
more info
  
neuromuscular junction IEA
Inferred from Electronic Annotation
more info
  
plasma membrane IDA
Inferred from Direct Assay
more info
  
postsynaptic specialization membrane IEA
Inferred from Electronic Annotation
more info
  
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

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

  1. NG_008312.1 RefSeqGene

    Range
    5001..16423
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005055.4 → 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
    UniProtKB/TrEMBL
    A0A0S2Z4F8
    Related
    ENSP00000298854.2, OTTHUMP00000234335, ENST00000298854.6, OTTHUMT00000391726
    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

  2. NM_032645.4 → 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/Swiss-Prot
    Q13702
    UniProtKB/TrEMBL
    A0A0S2Z4M9
    Related
    ENSP00000298853.3, OTTHUMP00000234336, ENST00000352508.7, OTTHUMT00000391728
    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]
    pfam13639
    Location:304 → 344
    zf-RING_2; Ring finger domain
    cl24038
    Location:1 → 80
    SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

    Range
    47437757..47449178 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. XM_005253043.3 → XP_005253100.1  43 kDa receptor-associated protein of the synapse isoform X3

    UniProtKB/TrEMBL
    A0A0S2Z4A2
    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

  3. XM_005253042.3 → XP_005253099.1  43 kDa receptor-associated protein of the synapse isoform X2

    UniProtKB/TrEMBL
    A0A0S2Z4A6
    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

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    47458570..47469991 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13702.4 GenPept UniProtKB/Swiss-Prot:Q13702

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