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RIC3 RIC3 acetylcholine receptor chaperone [ Homo sapiens (human) ]

Gene ID: 79608, updated on 7-Apr-2024

Summary

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Official Symbol
RIC3provided by HGNC
Official Full Name
RIC3 acetylcholine receptor chaperoneprovided by HGNC
Primary source
HGNC:HGNC:30338
See related
Ensembl:ENSG00000166405 MIM:610509; AllianceGenome:HGNC:30338
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
RIC-3; AYST720; PRO1385
Summary
This gene encodes a member of the resistance to inhibitors of cholinesterase 3-like family which functions as a chaperone of specific 5-hydroxytryptamine type 3 receptor and nicotinic acetylcholine receptor subtypes. The encoded protein influences the folding and assembly of these receptor subunits in the endoplasmic reticulum and expression on the cell surface. This protein contains an N-terminal transmembrane domain, a proline-rich spacer, and a cytosolic C-terminal coiled-coil domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
Expression
Ubiquitous expression in brain (RPKM 6.2), prostate (RPKM 4.2) and 23 other tissues See more
Orthologs
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Genomic context

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See RIC3 in Genome Data Viewer
Location:
11p15.4
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (8092965..8169025, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (8172123..8249969, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (8114512..8190572, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902627 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:8057222-8057786 Neighboring gene TUB bipartite transcription factor Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr11:8093711-8094487 Neighboring gene TUB antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:8104709-8105272 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:8111641-8112141 Neighboring gene RIC3 divergent transcript Neighboring gene Sharpr-MPRA regulatory region 8819 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4381 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:8214713-8215283 Neighboring gene VISTA enhancer hs1859 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:8244025-8244526 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:8248695-8249355 Neighboring gene uncharacterized LOC105376536 Neighboring gene LIM domain only 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Deletion induced splicing in RIC3 drives nicotinic acetylcholine receptor regulation with implications for endoplasmic reticulum stress in human astrocytes. Yadav N, et al. Glia, 2023 May. PMID 36602087
  2. RIC3 variants are not associated with Parkinson's disease in large European, Latin American, or East Asian cohorts. Brolin K, et al. Neurobiol Aging, 2022 Jan. PMID 34538707, Free PMC Article
  3. Genetic analysis of the RIC3 gene in Han Chinese patients with Parkinson's disease. He D, et al. Neurosci Lett, 2017 Jul 13. PMID 28606768
  4. RIC3 variants are not associated with Parkinson's disease in French-Canadians and French. Ross JP, et al. Neurobiol Aging, 2017 May. PMID 28153381
  5. Evidence of mutations in RIC3 acetylcholine receptor chaperone as a novel cause of autosomal-dominant Parkinson's disease with non-motor phenotypes. Sudhaman S, et al. J Med Genet, 2016 Aug. PMID 27055476

See all (48) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Unraveling the molecular interactions between alpha7 nicotinic receptor and a RIC3 variant associated with backward speech.
    Title: Unraveling the molecular interactions between α7 nicotinic receptor and a RIC3 variant associated with backward speech.
  2. Deletion induced splicing in RIC3 drives nicotinic acetylcholine receptor regulation with implications for endoplasmic reticulum stress in human astrocytes.
    Title: Deletion induced splicing in RIC3 drives nicotinic acetylcholine receptor regulation with implications for endoplasmic reticulum stress in human astrocytes.
  3. RIC3 variants are not associated with Parkinson's disease in large European, Latin American, or East Asian cohorts.
    Title: RIC3 variants are not associated with Parkinson's disease in large European, Latin American, or East Asian cohorts.
  4. RIC3, the cholinergic anti-inflammatory pathway, and neuroinflammation.
    Title: RIC3, the cholinergic anti-inflammatory pathway, and neuroinflammation.
  5. Two RIC3 gene haplotypes of four variants: A-G-C-G, and C-A-C-A might relate to either protection against or increased susceptibility to PD in the Han Chinese population, respectively.
    Title: Genetic analysis of the RIC3 gene in Han Chinese patients with Parkinson's disease.
  6. RIC3 mutations are not a common cause of PD in the French-Canadian and French populations.
    Title: RIC3 variants are not associated with Parkinson's disease in French-Canadians and French.
  7. RIC3 is a known chaperone of neuronal nicotinic acetylcholine receptor subunit alpha-7 (CHRNA7).
    Title: Evidence of mutations in RIC3 acetylcholine receptor chaperone as a novel cause of autosomal-dominant Parkinson's disease with non-motor phenotypes.
  8. 5-HT3A-ICD is not only required but also sufficient for interaction with RIC-3
    Title: Pentameric quaternary structure of the intracellular domain of serotonin type 3A receptors.
  9. expression of chaperones such as Ric-3 can influence proteins associating with alpha7-nAChRs
    Title: Resistance to Inhibitors of Cholinesterase 3 (Ric-3) Expression Promotes Selective Protein Associations with the Human α7-Nicotinic Acetylcholine Receptor Interactome.
  10. RIC-3 differentially regulates assembly and expression of different nicotinic receptor subunits. These results also show that nicotine-mediated upregulation of alpha4beta2 receptors can be dynamically regulated by the presence of the chaperone, RIC-3.
    Title: RIC-3 differentially modulates α4β2 and α7 nicotinic receptor assembly, expression, and nicotine-induced receptor upregulation.
Submit: New GeneRIF Correction See all GeneRIFs (26)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ11608

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables acetylcholine receptor binding IEA
Inferred from Electronic Annotation
more info
  
enables protein folding chaperone IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in positive regulation of cytosolic calcium ion concentration IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of protein localization to cell surface IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein folding IEA
Inferred from Electronic Annotation
more info
  
involved_in protein localization to cell surface IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein-containing complex assembly IEA
Inferred from Electronic Annotation
more info
  
involved_in synaptic transmission, cholinergic IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in Golgi membrane IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in neuronal cell body IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in synapse IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
protein RIC-3
Names
resistance to inhibitors of cholinesterase 3
resistance to inhibitors of cholinesterase 3-like protein
resistant to inhibitor of cholinesterase 3

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

  1. NG_030416.2 RefSeqGene

    Range
    5019..67988
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001135109.4 → NP_001128581.1  protein RIC-3 isoform f precursor

    See identical proteins and their annotated locations for NP_001128581.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks four consecutive exons in the coding region, compared to variant 1. The encoded isoform (f) is shorter than isoform c.
    Source sequence(s)
    AC091013, AC116456, CB850751, KF455312, KU178775
    Consensus CDS
    CCDS44533.1
    UniProtKB/TrEMBL
    A0A0S2Z6D3
    Related
    ENSP00000333988.7, ENST00000335425.7

  2. NM_001206671.4 → NP_001193600.1  protein RIC-3 isoform a precursor

    See identical proteins and their annotated locations for NP_001193600.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the coding region, compared to variant 1. The encoded isoform (a) is longer than isoform c. The isoform designation was changed from "c" to "a" to be consistent with isoforms cited in PMID 18691158.
    Source sequence(s)
    AC091013, AC116456, AC129895, AY326435, CB850751
    Consensus CDS
    CCDS55742.1
    UniProtKB/Swiss-Prot
    B0B1U0, B2RD25, D3DQU5, Q6UX78, Q7Z5B3, Q7Z5B4, Q86T94, Q8TBJ9, Q9HAH8
    UniProtKB/TrEMBL
    B7Z3Z0
    Related
    ENSP00000308820.6, ENST00000309737.11
    Conserved Domains (1) summary
    pfam15361
    Location:24 → 165
    RIC3; Resistance to inhibitors of cholinesterase homologue 3

  3. NM_001206672.4 → NP_001193601.1  protein RIC-3 isoform e precursor

    See identical proteins and their annotated locations for NP_001193601.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two consecutive exons in the coding region, compared to variant 1. The encoded isoform (e) is shorter than isoform c. The isoform designation was changed from "d" to "e" to be consistent with isoforms cited in PMID 18691158.
    Source sequence(s)
    AC091013, AC116456, AM422214, CB850751, KF455312
    Consensus CDS
    CCDS55741.1
    UniProtKB/Swiss-Prot
    Q7Z5B4
    Related
    ENSP00000395320.2, ENST00000425599.6
    Conserved Domains (1) summary
    pfam15361
    Location:24 → 143
    RIC3; Resistance to inhibitors of cholinesterase homolog 3

  4. NM_001346690.2 → NP_001333619.1  protein RIC-3 isoform h

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (h) has a shorter and distinct N-terminus, compared to isoform c.
    Source sequence(s)
    AC091013, AC116456, AC129895, CB850751, KF455312

  5. NM_001346691.2 → NP_001333620.1  protein RIC-3 isoform i precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks an exon in the coding region which results in a frameshift, compared to variant 1. The encoded isoform (i) has a shorter and distinct C-terminus, compared to isoform c.
    Source sequence(s)
    AC091013, AC116456, AC129895, CB850751, KF455312
    UniProtKB/TrEMBL
    A0A0S2Z5U4

  6. NM_001346692.2 → NP_001333621.1  protein RIC-3 isoform j

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (j) has a shorter N-terminus, compared to isoform c.
    Source sequence(s)
    AC091013, AC116456, AC129895, CB850751, KF455312
    UniProtKB/TrEMBL
    B7Z3Z0
    Conserved Domains (1) summary
    pfam15361
    Location:2 → 116
    RIC3; Resistance to inhibitors of cholinesterase homolog 3

  7. NM_001346693.2 → NP_001333622.1  protein RIC-3 isoform k

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) differs in the 5' UTR, uses an alternate splice site in the coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (k) is shorter, compared to isoform c.
    Source sequence(s)
    AC091013, AC116456, AC129895, CB850751, KF455312
    UniProtKB/TrEMBL
    B7Z3Z0

  8. NM_001346694.2 → NP_001333623.1  protein RIC-3 isoform g

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, uses an alternate splice site in the coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (g) is shorter, compared to isoform c.
    Source sequence(s)
    AC091013, AC116456, AK296505, CB850751, KF455312
    UniProtKB/TrEMBL
    B7Z3Z0

  9. NM_024557.6 → NP_078833.3  protein RIC-3 isoform c precursor

    See identical proteins and their annotated locations for NP_078833.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform c. The isoform designation was changed from "a" to "c" to be consistent with isoforms cited in PMID 18691158.
    Source sequence(s)
    AC091013, AC116456, CB850751, KF455312, KU178773
    Consensus CDS
    CCDS7788.1
    UniProtKB/TrEMBL
    A0A0S2Z607, B7Z3Z0
    Related
    ENSP00000344904.4, ENST00000343202.8
    Conserved Domains (1) summary
    pfam15361
    Location:24 → 165
    RIC3; Resistance to inhibitors of cholinesterase homologue 3

RNA

  1. NR_144484.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC091013, AC116456, CB850751, KF455312, KU178774

  2. NR_144485.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) uses an alternate 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC091013, AC116456, AC129895, CA439241

  3. NR_144497.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12) lacks three alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC116456, AC129895, BX647514, CB850751, KF455312

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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
    8092965..8169025 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006718318.5 → XP_006718381.1  protein RIC-3 isoform X2

    See identical proteins and their annotated locations for XP_006718381.1

    UniProtKB/TrEMBL
    A0A0S2Z607, B7Z3Z0
    Conserved Domains (1) summary
    pfam15361
    Location:24 → 165
    RIC3; Resistance to inhibitors of cholinesterase homologue 3

  2. XM_006718317.5 → XP_006718380.1  protein RIC-3 isoform X1

    UniProtKB/TrEMBL
    E9PK46
    Related
    ENSP00000431658.1, ENST00000531450.1
    Conserved Domains (1) summary
    pfam15361
    Location:24 → 165
    RIC3; Resistance to inhibitors of cholinesterase homologue 3

  3. XM_047427585.1 → XP_047283541.1  protein RIC-3 isoform X3

  4. XM_024448685.2 → XP_024304453.1  protein RIC-3 isoform X5

    Conserved Domains (1) summary
    pfam15361
    Location:24 → 165
    RIC3; Resistance to inhibitors of cholinesterase homolog 3

  5. XM_006718321.5 → XP_006718384.1  protein RIC-3 isoform X4

    Conserved Domains (1) summary
    pfam15361
    Location:24 → 165
    RIC3; Resistance to inhibitors of cholinesterase homologue 3

RNA

  1. XR_001747957.3 RNA Sequence

  2. XR_007062500.1 RNA Sequence

  3. XR_428851.5 RNA Sequence

  4. XR_930896.4 RNA Sequence

  5. XR_930900.4 RNA Sequence

  6. XR_007062499.1 RNA Sequence

  7. XR_007062498.1 RNA Sequence

  8. XR_002957195.2 RNA Sequence

  9. XR_002957193.2 RNA Sequence

  10. XR_007062501.1 RNA Sequence

  11. XR_002957192.2 RNA Sequence

  12. XR_930901.4 RNA Sequence

  13. XR_930897.4 RNA Sequence

  14. XR_930898.4 RNA Sequence

  15. XR_428848.5 RNA Sequence

  16. XR_002957194.2 RNA Sequence

  17. XR_007062502.1 RNA Sequence

  18. XR_001747959.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    8172123..8249969 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054369935.1 → XP_054225910.1  protein RIC-3 isoform X2

  2. XM_054369934.1 → XP_054225909.1  protein RIC-3 isoform X1

  3. XM_054369936.1 → XP_054225911.1  protein RIC-3 isoform X3

  4. XM_054369938.1 → XP_054225913.1  protein RIC-3 isoform X5

  5. XM_054369939.1 → XP_054225914.1  protein RIC-3 isoform X5

  6. XM_054369937.1 → XP_054225912.1  protein RIC-3 isoform X4

RNA

  1. XR_008488445.1 RNA Sequence

  2. XR_008488442.1 RNA Sequence

  3. XR_008488434.1 RNA Sequence

  4. XR_008488433.1 RNA Sequence

  5. XR_008488438.1 RNA Sequence

  6. XR_008488437.1 RNA Sequence

  7. XR_008488436.1 RNA Sequence

  8. XR_008488450.1 RNA Sequence

  9. XR_008488443.1 RNA Sequence

  10. XR_008488444.1 RNA Sequence

  11. XR_008488441.1 RNA Sequence

  12. XR_008488440.1 RNA Sequence

  13. XR_008488435.1 RNA Sequence

  14. XR_008488439.1 RNA Sequence

  15. XR_008488432.1 RNA Sequence

  16. XR_008488446.1 RNA Sequence

  17. XR_008488447.1 RNA Sequence

  18. XR_008488449.1 RNA Sequence

  19. XR_008488448.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7Z5B4.1 GenPept UniProtKB/Swiss-Prot:Q7Z5B4

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