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

Summary

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: mouse all
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Genomic context

Location:: 11p15.4

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (8092965..8169025, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (8172123..8249969, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (8114512..8190572, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
RIC3, the cholinergic anti-inflammatory pathway, and neuroinflammation.
Title: RIC3, the cholinergic anti-inflammatory pathway, and neuroinflammation.
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.
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.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acetylcholine receptor binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
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

NG_030416.2 RefSeqGene

Range

5019..67988

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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
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
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
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

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
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
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

8092965..8169025 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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