Protein-coding gene in the species Homo sapiens
| CHRND |
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| Identifiers |
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| Aliases | CHRND, ACHRD, CMS2A, FCCMS, SCCMS, CMS3A, CMS3B, CMS3C, cholinergic receptor nicotinic delta subunit |
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| External IDs | OMIM: 100720; MGI: 87893; HomoloGene: 37340; GeneCards: CHRND; OMA:CHRND - orthologs |
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| Gene location (Human) |
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 | | Chr. | Chromosome 2 (human)[1] |
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| | Band | 2q37.1 | Start | 232,525,993 bp[1] |
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| End | 232,536,667 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 1 (mouse)[2] |
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| | Band | 1 C5|1 44.07 cM | Start | 87,118,329 bp[2] |
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| End | 87,127,792 bp[2] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| Top expressed in | - gastrocnemius muscle
- muscle of thigh
- testicle
- glutes
- skeletal muscle tissue
- tibialis anterior muscle
- mucosa of nose
- granulocyte
- hypothalamus
- blood
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| | Top expressed in | - secondary oocyte
- tongue muscle
- zygote
- embryo
- primary oocyte
- muscle of thigh
- esophagus
- lip
- somite
- skeletal muscle tissue
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| | More reference expression data |
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| BioGPS |  | | More reference expression data |
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| Gene ontology |
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| Molecular function | - acetylcholine binding
- ion channel activity
- extracellular ligand-gated ion channel activity
- ligand-gated ion channel activity
- acetylcholine-gated cation-selective channel activity
- transmembrane signaling receptor activity
- acetylcholine receptor activity
- transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential
| | Cellular component | - integral component of membrane
- postsynaptic membrane
- membrane
- synapse
- cell junction
- acetylcholine-gated channel complex
- nucleoplasm
- cytosol
- plasma membrane
- neuromuscular junction
- integral component of postsynaptic specialization membrane
- integral component of plasma membrane
- neuron projection
| | Biological process | - muscle contraction
- regulation of membrane potential
- skeletal muscle contraction
- response to nicotine
- cation transport
- synaptic transmission, cholinergic
- ion transport
- skeletal muscle tissue growth
- neuromuscular synaptic transmission
- neuromuscular process
- musculoskeletal movement
- signal transduction
- regulation of postsynaptic membrane potential
- excitatory postsynaptic potential
- cation transmembrane transport
- ion transmembrane transport
- chemical synaptic transmission
- nervous system process
| | Sources:Amigo / QuickGO |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | |
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NM_000751
NM_001256657
NM_001311195
NM_001311196 |
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| RefSeq (protein) | |
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NP_000742
NP_001243586
NP_001298124
NP_001298125 |
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| Location (UCSC) | Chr 2: 232.53 – 232.54 Mb | Chr 1: 87.12 – 87.13 Mb |
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| PubMed search | [3] | [4] |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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Acetylcholine receptor subunit delta is a protein that in humans is encoded by the CHRND gene.[5]
Function
The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.[5]
Interactions
CHRND has been shown to interact with Cholinergic receptor, nicotinic, alpha 1.[6][7]
Clinical significance
Mutations in CHRND are known to cause the following conditions:[8]
- Multiple pterygium syndrome, lethal type (LMPS);
- Myasthenic syndrome, congenital, 3A, slow-channel (CMS3A);
- Myasthenic syndrome, congenital, 3B, fast-channel (CMS3B);
- Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency (CMS3C).
See also
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000135902 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026251 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: CHRND cholinergic receptor, nicotinic, delta".
- ^ Kreienkamp HJ, Maeda RK, Sine SM, Taylor P (March 1995). "Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor". Neuron. 14 (3): 635–44. doi:10.1016/0896-6273(95)90320-8. PMID 7695910.
- ^ Wang ZZ, Hardy SF, Hall ZW (November 1996). "Assembly of the nicotinic acetylcholine receptor. The first transmembrane domains of truncated alpha and delta subunits are required for heterodimer formation in vivo". J. Biol. Chem. 271 (44): 27575–84. doi:10.1074/jbc.271.44.27575. PMID 8910344.
- ^ "UniProt". www.uniprot.org. Retrieved 2023-07-08.
Further reading
- Colledge M, Froehner SC (1998). "Interaction between the nicotinic acetylcholine receptor and Grb2. Implications for signaling at the neuromuscular junction". Ann. N. Y. Acad. Sci. 841 (1): 17–27. Bibcode:1998NYASA.841...17C. doi:10.1111/j.1749-6632.1998.tb10907.x. PMID 9668219. S2CID 41992031.
- Beeson D, Jeremiah S, West LF, Povey S, Newsom-Davis J (1990). "Assignment of the human nicotinic acetylcholine receptor genes: the alpha and delta subunit genes to chromosome 2 and the beta subunit gene to chromosome 17". Ann. Hum. Genet. 54 (Pt 3): 199–208. doi:10.1111/j.1469-1809.1990.tb00378.x. PMID 2221824. S2CID 151624.
- 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. doi:10.1523/JNEUROSCI.09-03-01082.1989. PMC 6569985. PMID 2564429.
- Kreienkamp HJ, Maeda RK, Sine SM, Taylor P (1995). "Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor". Neuron. 14 (3): 635–44. doi:10.1016/0896-6273(95)90320-8. PMID 7695910.
- Pasteris NG, Trask BJ, Sheldon S, Gorski JL (1993). "Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35". Hum. Mol. Genet. 2 (7): 953–9. doi:10.1093/hmg/2.7.953. PMID 8103404.
- Engel AG, Ohno K, Milone M, Wang HL, Nakano S, Bouzat C, Pruitt JN, Hutchinson DO, Brengman JM, Bren N, Sieb JP, Sine SM (1996). "New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome". Hum. Mol. Genet. 5 (9): 1217–27. doi:10.1093/hmg/5.9.1217. PMID 8872460.
- Wang ZZ, Hardy SF, Hall ZW (1996). "Assembly of the nicotinic acetylcholine receptor. The first transmembrane domains of truncated alpha and delta subunits are required for heterodimer formation in vivo". J. Biol. Chem. 271 (44): 27575–84. doi:10.1074/jbc.271.44.27575. PMID 8910344.
- Brownlow S, Webster R, Croxen R, Brydson M, Neville B, Lin JP, Vincent A, Newsom-Davis J, Beeson D (2001). "Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita". J. Clin. Invest. 108 (1): 125–30. doi:10.1172/JCI12935. PMC 209343. PMID 11435464.
- Gomez CM, Maselli RA, Vohra BP, Navedo M, Stiles JR, Charnet P, Schott K, Rojas L, Keesey J, Verity A, Wollmann RW, Lasalde-Dominicci J (2002). "Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms". Ann. Neurol. 51 (1): 102–12. doi:10.1002/ana.10077. PMC 4841278. PMID 11782989.
- Shen XM, Ohno K, Fukudome T, Tsujino A, Brengman JM, De Vivo DC, Packer RJ, Engel AG (2002). "Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation". Neurology. 59 (12): 1881–8. doi:10.1212/01.wnl.0000042422.87384.2f. PMID 12499478. S2CID 35612575.
External links
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