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

Gene ID: 5913, updated on 18-Oct-2014
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; 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
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]
See RAPSN in Epigenomics, MapViewer
Location:
11p11.2
Exon count:
8
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 (zinc transporter), member 13 Neighboring gene proteasome (prosome, macropain) 26S subunit, ATPase, 3 Neighboring gene CUGBP, Elav-like family member 1 Neighboring gene protein tyrosine phosphatase, mitochondrial 1 Neighboring gene RNA, U5E small nuclear 10, pseudogene Neighboring gene kelch repeat and BTB (POZ) domain containing 4

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
positive regulation of neuron apoptotic process 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
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
neuromuscular junction IEA
Inferred from Electronic Annotation
more info
 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
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

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 

    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 proteins identical to 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
    Related
    ENSP00000298854, OTTHUMP00000234335, ENST00000298854, OTTHUMT00000391726
    Conserved Domains (4) summary
    pfam10579
    Location:180
    Rapsyn_N; Rapsyn N-terminal myristoylation and linker region
    cd00162
    Location:363405
    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 ...
    cd00189
    Location:124235
    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, ...
    pfam13424
    Location:204278
    TPR_12; Tetratricopeptide repeat
  2. NM_032645.4NP_116034.2  43 kDa receptor-associated protein of the synapse isoform 2

    See proteins identical to 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
    Related
    ENSP00000298853, OTTHUMP00000234336, ENST00000352508, OTTHUMT00000391728
    Conserved Domains (4) summary
    pfam10579
    Location:180
    Rapsyn_N; Rapsyn N-terminal myristoylation and linker region
    cd00162
    Location:304346
    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 ...
    cd00189
    Location:124235
    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, ...
    pfam13424
    Location:204263
    TPR_12; Tetratricopeptide repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000011.10 

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

mRNA and Protein(s)

  1. XM_005253043.1XP_005253100.1  

    Conserved Domains (4) summary
    pfam10579
    Location:180
    Rapsyn_N; Rapsyn N-terminal myristoylation and linker region
    cd00162
    Location:322364
    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 ...
    cd00189
    Location:124235
    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, ...
    pfam13424
    Location:204277
    TPR_12; Tetratricopeptide repeat
  2. XM_005253042.1XP_005253099.1  

    Conserved Domains (4) summary
    pfam10579
    Location:180
    Rapsyn_N; Rapsyn N-terminal myristoylation and linker region
    cd00162
    Location:345387
    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 ...
    cd00189
    Location:124235
    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, ...
    pfam13424
    Location:204278
    TPR_12; Tetratricopeptide repeat

Alternate HuRef

Genomic

  1. AC_000143.1 

    Range
    47159075..47170494
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 

    Range
    47458570..47469991
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)