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

    Gene ID: 79608, updated on 27-Nov-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RIC3 in Genome Data Viewer
    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_000011.10Genomic 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

    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

    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 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

    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)

    NEW Try the new Transcript table

    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/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
      B0B1U0, B2RD25, D3DQU5, Q6UX78, Q7Z5B3, Q7Z5B4, Q86T94, Q8TBJ9, Q9HAH8
      UniProtKB/TrEMBL
      B7Z3Z0
      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
    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
      UniProtKB/TrEMBL
      A0A0S2Z5U4
    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
      UniProtKB/TrEMBL
      B7Z3Z0
      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
      UniProtKB/TrEMBL
      B7Z3Z0
    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/TrEMBL
      A0A0S2Z607, B7Z3Z0
      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: 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
      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/TrEMBL
      A0A0S2Z607, B7Z3Z0
      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

      UniProtKB/TrEMBL
      E9PK46
      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)

    mRNA and Protein(s)

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

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

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

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

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

    6. XM_054369937.1XP_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