Nomenclature: δ

Family: Nicotinic acetylcholine receptors

Annotation status:  image of a green circle Annotated and expert reviewed. Please contact us if you can help with updates. 

Contents

Gene and Protein Information
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human 4 517 2q33-q34 CHRND cholinergic receptor, nicotinic, delta (muscle) 5
Mouse 4 520 1 D Chrnd cholinergic receptor, nicotinic, delta polypeptide 4
Rat 4 517 9q35 Chrnd cholinergic receptor, nicotinic, delta (muscle) 6
Previous and Unofficial Names
ACHRD
cholinergic receptor, nicotinic, delta
acetylcholine receptor, nicotinic, delta (muscle)
acetylcholine receptor subunit delta
cholinergic receptor, nicotinic, delta polypeptide
Achr-4
Acrd
L10076
Database Links
ChEMBL Target
Ensembl Gene
Entrez Gene
GeneCards
GenitoUrinary Development Molecular Anatomy Project
HomoloGene
Human Protein Reference Database
InterPro
KEGG Gene
OMIM
Orphanet Gene
PharmGKB Gene
PhosphoSitePlus
Protein Ontology (PRO)
RefSeq Nucleotide
RefSeq Protein
TreeFam
UniGene Hs.
UniProtKB
Wikipedia
Natural/Endogenous Ligands
acetylcholine
Tissue Distribution Comments
The δ subunit mRNA us expressed in vertebrate skeletal muscle.
Clinically-Relevant Mutations and Pathophysiology
Disease:  Congenital myasthenic syndromes
OMIM:  118508
Role: 
References:  1-3
Click column headers to sort
Type Species Molecular location Description Reference
Missense Human Intracellular 2
Disease:  Fast-channel congenital myasthenic syndromes
OMIM:  608930
Orphanet:  98913
References:  1-2
Click column headers to sort
Type Species Molecular location Description Reference
Missense Human Extracellular 2
Disease:  Multiple pterygium syndrome, lethal type
OMIM:  253290
Orphanet:  33108
References: 
Mutations not determined
Disease:  Slow-channel congenital myasthenic syndromes
OMIM:  601462
Orphanet:  98913
References:  1-2
Click column headers to sort
Type Species Molecular location Description Reference
Missense Human Transmembrane 2

REFERENCES

1. Engel AG, Ohno K, Sine SM. (2003) Congenital myasthenic syndromes: A diverse array of molecular targets. J. Neurocytol.32 (5-8): 1017-37. [PMID:15034283]

2. Engel AG, Shen XM, Selcen D, Sine SM. (2010) What have we learned from the congenital myasthenic syndromes. J. Mol. Neurosci.40 (1-2): 143-53. [PMID:19688192]

3. Engel AG, Sine SM. (2005) Current understanding of congenital myasthenic syndromes. Curr Opin Pharmacol5 (3): 308-21. [PMID:15907919]

4. LaPolla RJ, Mayne KM, Davidson N. (1984) Isolation and characterization of a cDNA clone for the complete protein coding region of the delta subunit of the mouse acetylcholine receptor. Proc. Natl. Acad. Sci. U.S.A.81 (24): 7970-4. [PMID:6096870]

5. Luther MA, Schoepfer R, Whiting P, Casey B, Blatt Y, Montal MS, Montal M, Linstrom J. (1989) A muscle acetylcholine receptor is expressed in the human cerebellar medulloblastoma cell line TE671. J. Neurosci.9 (3): 1082-96. [PMID:2564429]

6. Witzemann V, Stein E, Barg B, Konno T, Koenen M, Kues W, Criado M, Hofmann M, Sakmann B. (1990) Primary structure and functional expression of the alpha-, beta-, gamma-, delta- and epsilon-subunits of the acetylcholine receptor from rat muscle. Eur. J. Biochem.194 (2): 437-48. [PMID:1702709]

To cite this database page, please use the following:

Cecilia Gotti, Michael. J. Marks, Neil S. Millar, Susan Wonnacott.
Nicotinic acetylcholine receptors: δ. Last modified on 14/03/2014. Accessed on 23/07/2014. IUPHAR database (IUPHAR-DB), http://www.iuphar-db.org/DATABASE/ObjectDisplayForward?objectId=476.

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