• Gene id: 79608

Gene Summary

• Gene Symbol: RIC3   Gene   UCSC   Ensembl
• Aliases: AYST720, PRO1385
• Gene name: RIC3 acetylcholine receptor chaperone
• Alternate names: protein RIC-3, resistance to inhibitors of cholinesterase 3-like protein, resistant to inhibitor of cholinesterase 3,
• Gene location: 11p15.4 (8169039: 8092964)     Exons: 11     NC_000011.10
• Gene summary(Entrez): 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 fol
• OMIM: 610509

Protein Summary

• Protein general information: Q7Z5B4  
  • Name: Protein RIC 3 (Resistant to inhibitor of cholinesterase 3)
  • Length: 369  
  • Mass: 41092
  • 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 dis
• Sequence:

  MAYSTVQRVALASGLVLALSLLLPKAFLSRGKRQEPPPTPEGKLGRFPPMMHHHQAPSDGQTPGARFQRSHLAEA
  FAKAKGSGGGAGGGGSGRGLMGQIIPIYGFGIFLYILYILFKLSKGKTTAEDGKCYTAMPGNTHRKITSFELAQL
  QEKLKETEAAMEKLINRVGPNGESRAQTVTSDQEKRLLHQLREITRVMKEGKFIDRFSPEKEAEEAPYMEDWEGY
  PEETYPIYDLSDCIKRRQETILVDYPDPKELSAEEIAERMGMIEEEESDHLGWESLPTDPRAQEDNSVTSCDPKP
  ETCSCCFHEDEDPAVLAENAGFSADSYPEQEETTKEEWSQDFKDEGLGISTDKAYTGSMLRKRNPQGLE

• Structural information:
  • Interpro: IPR026160  IPR032763  
  • STRING: ENSP00000308820
• Other Databases: GeneCards:  RIC3  Malacards:  RIC3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007271	synaptic transmission, cholinergic	IBA	biological process
GO:0034394	protein localization to cell surface	IBA	biological process
GO:0043025	neuronal cell body	IBA	cellular component
GO:0033130	acetylcholine receptor binding	IBA	molecular function
GO:0043005	neuron projection	IBA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007271	synaptic transmission, cholinergic	IEA	biological process
GO:0007204	positive regulation of cytosolic calcium ion concentration	IEA	biological process
GO:0044183	protein folding chaperone	IEA	molecular function
GO:0034622	cellular protein-containing complex assembly	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0033130	acetylcholine receptor binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0006457	protein folding	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881