RIC3 - RIC3 acetylcholine receptor chaperone Gene

Also Known as RIC-3; AYST720; PRO1385

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 79608

About RIC3

Cytogenetic location: 11p15.4 Genomic coordinates (GRCh38): 11:8,092,965-8,169,025 (from NCBI)

This gene has 13 transcripts (splice variants) and 259 orthologues. Ubiquitous expression in brain (RPKM 6.2), prostate (RPKM 4.2) and 23 other tissues.

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]

RIC3 Products (9)

mRNA Protein Name
NM_001135109.4 NP_001128581.1 protein RIC-3 isoform f precursor
NM_001206671.4 NP_001193600.1 protein RIC-3 isoform a precursor
NM_001206672.4 NP_001193601.1 protein RIC-3 isoform e precursor
NM_001346690.2 NP_001333619.1 protein RIC-3 isoform h
NM_001346691.2 NP_001333620.1 protein RIC-3 isoform i precursor
NM_001346692.2 NP_001333621.1 protein RIC-3 isoform j
NM_001346693.2 NP_001333622.1 protein RIC-3 isoform k
NM_001346694.2 NP_001333623.1 protein RIC-3 isoform g
NM_024557.6 NP_078833.3 protein RIC-3 isoform c precursor
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence References Source
involved in positive regulation of protein localization to cell surface IDA
IDA: Inferred from direct assay
32204458 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RIC3 Protein Structure

RIC3

RIC3: Resistance to inhibitors of cholinesterase homologue 3 (15 - 165)

  • 0
  • 100
  • 200
  • 300
  • 369 a.a.
Protein Preferred Names Protein Names

protein RIC-3

  • resistance to inhibitors of cholinesterase 3

Related Diseases

Diseases Alias
Retinal Dystrophy And Obesity
  • RDOB

  • Dystrophy, Retinal, And Obesity

Tremor, Hereditary Essential, 3
  • ETM3

  • Essential Tremor 3

  • Essential Tremor, Hereditary, 3

  • Hereditary Essential Tremor 3

Fundus Dystrophy
  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal

Parkinson Disease, Late-Onset
  • Parkinson Disease

  • Parkinson'S Disease

  • PD

  • PARK

  • Parkinson Disease, Susceptibility To

  • Late Onset Parkinson'S Disease

  • Late Onset Parkinson Disease

  • Paralysis Agitans

  • Primary Parkinsonism

  • Idiopathic Parkinson Disease

  • Parkinson'S

  • Parkinson Disease, Late-Onset, Susceptibility To

  • Parkinson Disease, Age Of Onset, Modifier

  • Lewy Body Parkinson Disease

  • Idiopathic Parkinson'S Disease

  • Pd - [Parkinson Disease]

  • Parkinson Disease Nos

  • Parkinson, Nos

  • Primary Parkinson Disease

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus RIC3 MGD MGI:2443887
Canis familiaris RIC3 VGNC VGNC:45571
Felis catus RIC3 VGNC VGNC:104324
Rattus norvegicus RIC3 RGD RGD:1588939
Bos taurus RIC3 VGNC VGNC:33960
Macaca mulatta RIC3 VGNC VGNC:76872
Others RIC3 NCBI