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Aliases for RIC3 Gene

Aliases for RIC3 Gene

  • RIC3 Acetylcholine Receptor Chaperone 2 3 5
  • Resistant To Inhibitor Of Cholinesterase 3 3 4
  • Resistance To Inhibitors Of Cholinesterase 3 Homolog (C. Elegans) 2
  • Resistance To Inhibitors Of Cholinesterase 3-Like Protein 3
  • Protein RIC-3 3
  • AYST720 3
  • PRO1385 3

External Ids for RIC3 Gene

Previous GeneCards Identifiers for RIC3 Gene

  • GC11M008086
  • GC11M008091
  • GC11M008084
  • GC11M007795
  • GC11M008127

Summaries for RIC3 Gene

Entrez Gene Summary for RIC3 Gene

  • 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]

GeneCards Summary for RIC3 Gene

RIC3 (RIC3 Acetylcholine Receptor Chaperone) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include protein binding involved in protein folding and acetylcholine receptor binding.

UniProtKB/Swiss-Prot for RIC3 Gene

  • Promotes functional expression of homomeric alpha-7 and alpha-8 nicotinic acetylcholine receptors at the cell surface. May also promote functional expression of homomeric serotoninergic 5-HT3 receptors, and of heteromeric acetylcholine receptors alpha-3/beta-2, alpha-3/beta-4, alpha-4/beta-2 and alpha-4/beta-4.

Gene Wiki entry for RIC3 Gene

Additional gene information for RIC3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RIC3 Gene

Genomics for RIC3 Gene

GeneHancer (GH) Regulatory Elements for RIC3 Gene

Promoters and enhancers for RIC3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I008168 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 566.6 +0.3 284 1.5 YY1 ETS1 ZNF335 SCRT2 ZNF143 RUNX3 HCFC1 ZBTB11 MIER2 ELF1 RIC3 LOC101927936 GC11M008105 PIR34942
GH11I008204 Enhancer 1.8 VISTA Ensembl ENCODE dbSUPER 18.9 -37.7 -37735 4.6 PKNOX1 SMAD1 ATF1 ARNT TCF12 ZNF766 GATA2 ATF7 ZNF263 NCOA1 RIC3 LOC101927936 TUB CASC23 EIF3F GC11M008201 GC11P008198
GH11I008201 Enhancer 1.1 Ensembl ENCODE dbSUPER 19.8 -33.6 -33564 2.4 TEAD4 TAL1 MAX BATF RELA TCF12 ZNF547 CBFA2T2 IKZF2 RUNX3 RIC3 LOC101927936 GC11P008198 GC11M008201
GH11I008837 Enhancer 1.1 Ensembl ENCODE dbSUPER 9.5 -670.5 -670536 4.8 TFAP4 FOXA2 JUN EBF1 CEBPG RELA ZKSCAN1 POLR2A NFE2 SOX6 TMEM9B-AS1 AKIP1 ENSG00000255159 ST5 ENSG00000254665 RPL27A SCUBE2 LOC101927936 RIC3 TMEM9B
GH11I008103 Enhancer 0.4 dbSUPER 24.1 +64.0 63966 2.7 FOXA2 HLF FOXA1 GC11M008105 PIR38351 PIR46603 PIR39836 PIR42417 PIR34942 PIR37470 RIC3 TUB CASC23
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RIC3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RIC3 gene promoter:

Genomic Locations for RIC3 Gene

Genomic Locations for RIC3 Gene
chr11:8,092,965-8,169,083
(GRCh38/hg38)
Size:
76,119 bases
Orientation:
Minus strand
chr11:8,127,597-8,190,602
(GRCh37/hg19)

Genomic View for RIC3 Gene

Genes around RIC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RIC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RIC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RIC3 Gene

Proteins for RIC3 Gene

  • Protein details for RIC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z5B4-RIC3_HUMAN
    Recommended name:
    Protein RIC-3
    Protein Accession:
    Q7Z5B4
    Secondary Accessions:
    • B0B1U0
    • B2RD25
    • D3DQU5
    • Q6UX78
    • Q7Z5B3
    • Q86T94
    • Q8TBJ9
    • Q9HAH8

    Protein attributes for RIC3 Gene

    Size:
    369 amino acids
    Molecular mass:
    41092 Da
    Quaternary structure:
    • Monomer and homodimer. Interacts with CHRNA7, CHRNA3, CHRNA4, CHRNB2, CHRNB4 and HTR3A.
    SequenceCaution:
    • Sequence=BAB13871.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};

    Alternative splice isoforms for RIC3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RIC3 Gene

Post-translational modifications for RIC3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RIC3 Gene

Domains & Families for RIC3 Gene

Gene Families for RIC3 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Predicted secreted proteins
  • Transporters

Protein Domains for RIC3 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q7Z5B4

UniProtKB/Swiss-Prot:

RIC3_HUMAN :
  • The coiled-coil domain mediates transient homodimerization with other acetylcholine receptor-bound RIC3 molecules, promoting stepwise ACHR homomeric assembly at the membrane.
  • Belongs to the ric-3 family.
Domain:
  • The coiled-coil domain mediates transient homodimerization with other acetylcholine receptor-bound RIC3 molecules, promoting stepwise ACHR homomeric assembly at the membrane.
Family:
  • Belongs to the ric-3 family.
genes like me logo Genes that share domains with RIC3: view

Function for RIC3 Gene

Molecular function for RIC3 Gene

UniProtKB/Swiss-Prot Function:
Promotes functional expression of homomeric alpha-7 and alpha-8 nicotinic acetylcholine receptors at the cell surface. May also promote functional expression of homomeric serotoninergic 5-HT3 receptors, and of heteromeric acetylcholine receptors alpha-3/beta-2, alpha-3/beta-4, alpha-4/beta-2 and alpha-4/beta-4.

Phenotypes From GWAS Catalog for RIC3 Gene

Gene Ontology (GO) - Molecular Function for RIC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0033130 acetylcholine receptor binding IBA --
GO:0044183 protein binding involved in protein folding IEA --
genes like me logo Genes that share ontologies with RIC3: view

Phenotypes for RIC3 Gene

genes like me logo Genes that share phenotypes with RIC3: view

Animal Model Products

  • Taconic Biosciences Mouse Models for RIC3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RIC3 Gene

Localization for RIC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RIC3 Gene

Isoform 1: Endoplasmic reticulum membrane; Single-pass membrane protein.
Isoform 2: Endoplasmic reticulum membrane; Single-pass membrane protein. Golgi apparatus membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RIC3 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 2
extracellular 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for RIC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RIC3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RIC3 Gene

Pathways & Interactions for RIC3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RIC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding IEA --
GO:0007204 positive regulation of cytosolic calcium ion concentration IEA --
GO:0007271 synaptic transmission, cholinergic IBA --
GO:0034394 protein localization to cell surface IBA --
GO:0043623 cellular protein complex assembly IEA --
genes like me logo Genes that share ontologies with RIC3: view

No data available for Pathways by source and SIGNOR curated interactions for RIC3 Gene

Drugs & Compounds for RIC3 Gene

(1) Drugs for RIC3 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Theophylline Approved Pharma Antagonist, Target 67
genes like me logo Genes that share compounds with RIC3: view

Transcripts for RIC3 Gene

Unigene Clusters for RIC3 Gene

Resistance to inhibitors of cholinesterase 3 homolog (C. elegans):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RIC3 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c · 8d ^ 9a · 9b · 9c
SP1: - - - - -
SP2: - - - - -
SP3: -
SP4: - - -
SP5: - - - - - - - - - -
SP6:
SP7: - - - - - - - - - - -
SP8: -
SP9:

Relevant External Links for RIC3 Gene

GeneLoc Exon Structure for
RIC3
ECgene alternative splicing isoforms for
RIC3

Expression for RIC3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RIC3 Gene

NURSA nuclear receptor signaling pathways regulating expression of RIC3 Gene:

RIC3

SOURCE GeneReport for Unigene cluster for RIC3 Gene:

Hs.231850

mRNA Expression by UniProt/SwissProt for RIC3 Gene:

Q7Z5B4-RIC3_HUMAN
Tissue specificity: Broadly expressed, with high levels in muscle, brain, heart, pancreas and testis. In the central nervous system, highest levels are detected in the cerebellum and pituitary gland. Over-expressed in brains from patients with bipolar disease or schizophrenia. Isoform 5 is predominantly expressed in the brain.

Evidence on tissue expression from TISSUES for RIC3 Gene

  • Nervous system(4.8)
genes like me logo Genes that share expression patterns with RIC3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for RIC3 Gene

Orthologs for RIC3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RIC3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RIC3 33 34
  • 99.37 (n)
dog
(Canis familiaris)
Mammalia RIC3 33 34
  • 89.92 (n)
cow
(Bos Taurus)
Mammalia RIC3 33 34
  • 88.92 (n)
mouse
(Mus musculus)
Mammalia Ric3 33 16 34
  • 87.89 (n)
rat
(Rattus norvegicus)
Mammalia Ric3 33
  • 86.7 (n)
oppossum
(Monodelphis domestica)
Mammalia RIC3 34
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RIC3 34
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves RIC3 33 34
  • 65.84 (n)
lizard
(Anolis carolinensis)
Reptilia RIC3 34
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ric3 33
  • 60.86 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC101882410 33
  • 52.08 (n)
RIC3 (2 of 2) 34
  • 47 (a)
OneToMany
RIC3 (1 of 2) 34
  • 24 (a)
OneToMany
Species where no ortholog for RIC3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RIC3 Gene

ENSEMBL:
Gene Tree for RIC3 (if available)
TreeFam:
Gene Tree for RIC3 (if available)

Paralogs for RIC3 Gene

No data available for Paralogs for RIC3 Gene

Variants for RIC3 Gene

Sequence variations from dbSNP and Humsavar for RIC3 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs727502810 pathogenic, Retinal dystrophy and obesity 8,100,575(-) GAGAGAG/GAGAG genic_downstream_transcript_variant, intron_variant
VAR_036391 A colorectal cancer sample p.Gly346Val
rs778138358 uncertain-significance, not provided 8,140,149(-) G/T coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant, upstream_transcript_variant
rs1000006631 -- 8,092,818(-) G/A downstream_transcript_variant
rs1000036415 -- 8,099,076(-) G/A genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RIC3 Gene

Variant ID Type Subtype PubMed ID
esv1433200 CNV insertion 17803354
esv2744082 CNV deletion 23290073
esv2744083 CNV deletion 23290073
esv3579354 CNV loss 25503493
esv998418 CNV insertion 20482838
nsv1048537 CNV loss 25217958
nsv1054339 CNV gain 25217958
nsv428249 CNV loss 18775914
nsv473183 CNV novel sequence insertion 20440878
nsv479533 CNV novel sequence insertion 20440878
nsv480138 CNV novel sequence insertion 20440878
nsv499766 OTHER inversion 21111241
nsv513307 CNV insertion 21212237
nsv7215 OTHER inversion 18451855

Variation tolerance for RIC3 Gene

Residual Variation Intolerance Score: 78.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.76; 78.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RIC3 Gene

Human Gene Mutation Database (HGMD)
RIC3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RIC3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RIC3 Gene

Disorders for RIC3 Gene

Additional Disease Information for RIC3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for RIC3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RIC3 Gene

Publications for RIC3 Gene

  1. Conservation within the RIC-3 gene family. Effectors of mammalian nicotinic acetylcholine receptor expression. (PMID: 12821669) Halevi S … Treinin M (The Journal of biological chemistry 2003) 2 3 4 22 58
  2. Differential subcellular localization of RIC-3 isoforms and their role in determining 5-HT3 receptor composition. (PMID: 17609200) Cheng A … Connolly CN (The Journal of biological chemistry 2007) 3 4 22 58
  3. Ric-3 promotes functional expression of the nicotinic acetylcholine receptor alpha7 subunit in mammalian cells. (PMID: 15504725) Williams ME … Aiyar J (The Journal of biological chemistry 2005) 3 4 22 58
  4. Dual role of the RIC-3 protein in trafficking of serotonin and nicotinic acetylcholine receptors. (PMID: 15927954) Castillo M … Criado M (The Journal of biological chemistry 2005) 3 4 22 58
  5. RIC-3 enhances functional expression of multiple nicotinic acetylcholine receptor subtypes in mammalian cells. (PMID: 16120769) Lansdell SJ … Millar NS (Molecular pharmacology 2005) 3 4 22 58

Products for RIC3 Gene

Sources for RIC3 Gene

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