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

    Gene ID: 5913, updated on 22-Apr-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
    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

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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
    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
     
    protein anchor IEA
    Inferred from Electronic Annotation
    more info
     
    zinc ion binding 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_005055.4NP_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:9239
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:127151
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:204278
      TPR_12; Tetratricopeptide repeat
      pfam13639
      Location:363403
      zf-RING_2; Ring finger domain
      cl24038
      Location:180
      SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family
    2. NM_032645.4NP_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:9239
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:127151
      TPR; TPR repeat [structural motif]
      pfam13639
      Location:304344
      zf-RING_2; Ring finger domain
      cl24038
      Location:180
      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_011520252.1XP_011518554.1  43 kDa receptor-associated protein of the synapse isoform X1

      Conserved Domains (4) summary
      COG0457
      Location:9239
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:127151
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:204278
      TPR_12; Tetratricopeptide repeat
      cl24038
      Location:180
      SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family
    2. XM_005253043.3XP_005253100.1  43 kDa receptor-associated protein of the synapse isoform X3

      UniProtKB/TrEMBL
      A0A0S2Z4A2
      Conserved Domains (5) summary
      COG0457
      Location:9239
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:127151
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:204277
      TPR_12; Tetratricopeptide repeat
      pfam13639
      Location:322362
      zf-RING_2; Ring finger domain
      cl24038
      Location:180
      SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family
    3. XM_005253042.3XP_005253099.1  43 kDa receptor-associated protein of the synapse isoform X2

      UniProtKB/TrEMBL
      A0A0S2Z4A6
      Conserved Domains (5) summary
      COG0457
      Location:9239
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:127151
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:204278
      TPR_12; Tetratricopeptide repeat
      pfam13639
      Location:345385
      zf-RING_2; Ring finger domain
      cl24038
      Location:180
      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)
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