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

Gene ID: 79608, updated on 22-Sep-2022

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
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Genomic context

See RIC3 in Genome Data Viewer
Location:
11p15.4
Exon count:
11
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (8092965..8169025, complement)
110 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 TUB bipartite transcription factor Neighboring gene TUB antisense RNA 1 Neighboring gene RIC3 divergent transcript Neighboring gene Sharpr-MPRA regulatory region 8819

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
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
PubMed 
is_active_in neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in neuronal cell body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

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_001135109.4NP_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/Swiss-Prot
    Q7Z5B4
    UniProtKB/TrEMBL
    A0A0S2Z6D3
    Related
    ENSP00000333988.7, ENST00000335425.7
  2. NM_001206671.4NP_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
    Q7Z5B4, Q9HAH8
    Related
    ENSP00000308820.6, ENST00000309737.11
    Conserved Domains (1) summary
    pfam15361
    Location:24165
    RIC3; Resistance to inhibitors of cholinesterase homologue 3
  3. NM_001206672.4NP_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:24143
    RIC3; Resistance to inhibitors of cholinesterase homolog 3
  4. NM_001346690.2NP_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
    UniProtKB/Swiss-Prot
    Q7Z5B4
    UniProtKB/TrEMBL
    D3DQU6
  5. NM_001346691.2NP_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
  6. NM_001346692.2NP_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
    Conserved Domains (1) summary
    pfam15361
    Location:2116
    RIC3; Resistance to inhibitors of cholinesterase homolog 3
  7. NM_001346693.2NP_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
  8. NM_001346694.2NP_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_024557.6NP_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/Swiss-Prot
    Q7Z5B4
    UniProtKB/TrEMBL
    A0A0S2Z607
    Related
    ENSP00000344904.4, ENST00000343202.8
    Conserved Domains (1) summary
    pfam15361
    Location:24165
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_006718318.5XP_006718381.1  protein RIC-3 isoform X2

    See identical proteins and their annotated locations for XP_006718381.1

    UniProtKB/Swiss-Prot
    Q7Z5B4
    UniProtKB/TrEMBL
    A0A0S2Z607
    Conserved Domains (1) summary
    pfam15361
    Location:24165
    RIC3; Resistance to inhibitors of cholinesterase homologue 3
  2. XM_006718317.5XP_006718380.1  protein RIC-3 isoform X1

    Related
    ENSP00000431658.1, ENST00000531450.1
    Conserved Domains (1) summary
    pfam15361
    Location:24165
    RIC3; Resistance to inhibitors of cholinesterase homologue 3
  3. XM_047427585.1XP_047283541.1  protein RIC-3 isoform X3

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

    Conserved Domains (1) summary
    pfam15361
    Location:24165
    RIC3; Resistance to inhibitors of cholinesterase homolog 3
  5. XM_006718321.5XP_006718384.1  protein RIC-3 isoform X4

    Conserved Domains (1) summary
    pfam15361
    Location:24165
    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)