InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CHRNG

Summary

InnateDB Protein

IDBP-83283.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CHRNG

Protein Name

cholinergic receptor, nicotinic, gamma

Synonyms

ACHRG;

Species

Homo sapiens

Ensembl Protein

ENSP00000374145

InnateDB Gene

IDBG-83279 (CHRNG)

Protein Structure

UniProt Annotation

Function

After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.

Subcellular Localization

Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Disease Associations

Multiple pterygium syndrome, lethal type (LMPS) [MIM:253290]: Multiple pterygia are found infrequently in children with arthrogryposis and in fetuses with fetal akinesia syndrome. In lethal multiple pterygium syndrome there is intrauterine growth retardation, multiple pterygia, and flexion contractures causing severe arthrogryposis and fetal akinesia. Subcutaneous edema can be severe, causing fetal hydrops with cystic hygroma and lung hypoplasia. Oligohydramnios and facial anomalies are frequent. {ECO:0000269PubMed:16826520, ECO:0000269PubMed:16826531}. Note=The disease is caused by mutations affecting the gene represented in this entry.Multiple pterygium syndrome, Escobar variant (EVMPS) [MIM:265000]: Non-lethal form of arthrogryposis multiplex congenita. It is an autosomal recessive condition characterized by excessive webbing (pterygia), congenital contractures (arthrogryposis), and scoliosis. Variable other features include intrauterine death, congenital respiratory distress, short stature, faciocranial dysmorphism, ptosis, low-set ears, arachnodactyly and cryptorchism in males. Congenital contractures are common and may be caused by reduced fetal movements at sensitive times of development. Possible causes of decreased fetal mobility include space constraints such as oligohydramnion, drugs, metabolic conditions or neuromuscular disorders including myasthenia gravis. {ECO:0000269PubMed:16826520, ECO:0000269PubMed:16826531}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004889	acetylcholine-activated cation-selective channel activity
GO:0005230	extracellular ligand-gated ion channel activity
GO:0005515	protein binding
GO:0015267	channel activity
GO:0015464	acetylcholine receptor activity

Biological Process

GO:0006810	transport
GO:0006811	ion transport
GO:0006812	cation transport
GO:0006936	muscle contraction
GO:0007165	signal transduction
GO:0007268	synaptic transmission
GO:0034220	ion transmembrane transport
GO:0042391	regulation of membrane potential
GO:0055085	transmembrane transport

Cellular Component

GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0005892	acetylcholine-gated channel complex
GO:0016020	membrane
GO:0030054	cell junction
GO:0045211	postsynaptic membrane

Protein Structure and Domains

PDB ID

InterPro

IPR002394 Nicotinic acetylcholine receptor
IPR006029 Neurotransmitter-gated ion-channel transmembrane domain
IPR006201 Neurotransmitter-gated ion-channel
IPR006202 Neurotransmitter-gated ion-channel ligand-binding

PFAM

PF02932
PF02931

PRINTS

PR00254
PR00252

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P07510