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

Gene ID: 5913, updated on 5-Jul-2025
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
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See RAPSN in Genome Data Viewer
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_000011.10Genomic Context describing neighboring genes Neighboring gene SLC39A13 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:47429423-47430245 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:47430534-47431400 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:47431401-47432265 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:47435437-47435936 Neighboring gene solute carrier family 39 member 13 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:47447617-47447828 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4699 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3329 Neighboring gene uncharacterized LOC124902673 Neighboring gene proteasome 26S subunit, ATPase 3 Neighboring gene uncharacterized LOC124902820 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:47476965-47477464 Neighboring gene CUGBP Elav-like family member 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:47531803-47532677 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3330 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3331 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:47563719-47564218 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:47572896-47573571 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:47574247-47574922 Neighboring gene H3K27ac hESC enhancers GRCh37_chr11:47586662-47587162 and GRCh37_chr11:47587163-47587663 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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

EBI GWAS Catalog

Description
Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.
EBI GWAS Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Clone Names

  • MGC3597

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 acetylcholine receptor binding IEA
Inferred from Electronic Annotation
more info
 
enables ionotropic glutamate receptor binding IEA
Inferred from Electronic Annotation
more info
 
enables membrane-membrane adaptor activity 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-macromolecule adaptor activity IEA
Inferred from Electronic Annotation
more info
 
enables structural constituent of postsynaptic specialization IEA
Inferred from Electronic Annotation
more info
 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in chemical synaptic transmission IEA
Inferred from Electronic Annotation
more info
 
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
 
acts_upstream_of motor neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in neuromuscular junction development IEA
Inferred from Electronic Annotation
more info
 
involved_in neurotransmitter receptor localization to postsynaptic specialization membrane IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within 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 positive regulation of neuromuscular synaptic transmission IEA
Inferred from Electronic Annotation
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 cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in neuromuscular junction IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in neuromuscular junction IEA
Inferred from Electronic Annotation
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 plasma membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
located_in postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in postsynaptic specialization membrane IEA
Inferred from Electronic Annotation
more info
 
located_in synapse 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

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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

  1. NG_008312.2 RefSeqGene

    Range
    5000..16372
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001440490.1NP_001427419.1  43 kDa receptor-associated protein of the synapse isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC090559, KF510374
    UniProtKB/TrEMBL
    A0A0S2Z4F7
  2. NM_001440491.1NP_001427420.1  43 kDa receptor-associated protein of the synapse isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC090559, KF510374
  3. NM_001440492.1NP_001427421.1  43 kDa receptor-associated protein of the synapse isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC090559, KF510374
  4. NM_001440493.1NP_001427422.1  43 kDa receptor-associated protein of the synapse isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC090559, KF510374
  5. NM_001440494.1NP_001427423.1  43 kDa receptor-associated protein of the synapse isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC090559, KF510374
  6. NM_001440495.1NP_001427424.1  43 kDa receptor-associated protein of the synapse isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC090559
    UniProtKB/TrEMBL
    A0A0S2Z4A6
  7. NM_001440496.1NP_001427425.1  43 kDa receptor-associated protein of the synapse isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC090559
  8. NM_001440497.1NP_001427426.1  43 kDa receptor-associated protein of the synapse isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC090559, KF510374
    UniProtKB/TrEMBL
    A0A0S2Z4A2
  9. NM_001440498.1NP_001427427.1  43 kDa receptor-associated protein of the synapse isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC090559, KF510374
  10. NM_001440499.1NP_001427428.1  43 kDa receptor-associated protein of the synapse isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC090559, KF510374
    UniProtKB/TrEMBL
    E9PJP9
  11. NM_001440500.1NP_001427429.1  43 kDa receptor-associated protein of the synapse isoform 13

    Status: REVIEWED

    Source sequence(s)
    AC090559
    UniProtKB/TrEMBL
    E9PK11
  12. NM_001440501.1NP_001427430.1  43 kDa receptor-associated protein of the synapse isoform 14

    Status: REVIEWED

    Source sequence(s)
    AC090559
  13. NM_001440502.1NP_001427431.1  43 kDa receptor-associated protein of the synapse isoform 15

    Status: REVIEWED

    Source sequence(s)
    AC090559
  14. NM_001440503.1NP_001427432.1  43 kDa receptor-associated protein of the synapse isoform 16

    Status: REVIEWED

    Source sequence(s)
    AC090559, KF510374
  15. NM_001440504.1NP_001427433.1  43 kDa receptor-associated protein of the synapse isoform 17

    Status: REVIEWED

    Source sequence(s)
    AC090559, KF510374
  16. NM_005055.5NP_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
    Related
    ENSP00000298854.2, ENST00000298854.7
    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
  17. NM_032645.5NP_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
    Related
    ENSP00000298853.3, ENST00000352508.7
    Conserved Domains (4) summary
    COG0457
    Location:9239
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:127151
    TPR; TPR repeat [structural motif]
    cd16478
    Location:301345
    RING-H2_Rapsyn; RING finger, H2 subclass, found in 43 kDa receptor-associated protein of the synapse (Rapsyn) and similar proteins
    cl24038
    Location:180
    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

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    47437764..47449136 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    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
  2. XM_005253042.4XP_005253099.1  43 kDa receptor-associated protein of the synapse isoform X2

    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
  3. 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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    47597603..47608976 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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

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