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δ

Family: Nicotinic acetylcholine receptors

Contents:
Gene and Protein Information
Previous and Unofficial Names
Database Links
Tissue Distribution
Clinically-Relevant Mutations and Pathophysiology
References
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 12715 (Hs), 100149 (Mm), 12716 (Rn)
Ensembl ENSG00000135902 (Hs), ENSMUSG00000026251 (Mm), ENSRNOG00000019527 (Rn)
Entrez Gene 1144 (Hs), 11447 (Mm), 54240 (Rn)
GeneCards CHRND (Hs)
GenitoUrinary Development Molecular Anatomy Project Chrnd (Mm)
HomoloGene 37340
Human Protein Reference Database 01516 (Hs)
InterPro Q07001 (Hs), P02716 (Mm), P25110 (Rn)
KEGG Gene hsa:1144 (Hs), mmu:11447 (Mm), rno:54240 (Rn)
OMIM 100720 (Hs)
Orphanet Gene ORPHA119422 (Hs)
PharmGKB Gene PA26497 (Hs)
PhosphoSitePlus Q07001 (Hs), P02716 (Mm), P25110 (Rn)
Protein Ontology (PRO) PRO:000005466 (Hs)
RefSeq Nucleotide NM_000751 (Hs), NM_021600 (Mm), NM_019298 (Rn)
RefSeq Protein NP_000742 (Hs), NP_067611 (Mm), NP_062171 (Rn)
TreeFam ENSG00000135902 (Hs), ENSMUSG00000026251 (Mm), ENSRNOG00000019527 (Rn)
UniGene Hs. 156289 (Hs)
UniProt Q07001 (Hs), P02716 (Mm), P25110 (Rn)
Wikipedia δ
Nicotinic acetylcholine receptors
Search for 3D structures on the PDB
Search by keyword: Nicotinic acetylcholine receptors δ Search by accession number: P25110, P02716, Q07001
Natural/Endogenous Ligand(s)
acetylcholine
Tissue Distribution Comments
The δ subunit mRNA us expressed in vertebrate skeletal muscle.
Clinically-Relevant Mutations and Pathophysiology
Disease:  Fast-channel congenital myasthenic syndromes
OMIM:  608930
Orphanet:  98913
References:  1-2
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Type Species Molecular location Description Reference
Missense Human Extracellular 2
Disease:  Congenital myasthenic syndromes
OMIM:  118508
Role:  Due to low nAChR expression
References:  1-3
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Type Species Molecular location Description Reference
Missense Human Intracellular 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

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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 Pharmacol, 5 (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 20/01/2012. Accessed on 20/05/2013. IUPHAR database (IUPHAR-DB), http://www.iuphar-db.org/DATABASE/ObjectDisplayForward?objectId=476.


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