CHRND

CHRND
Identifiers
AliasesCHRND, ACHRD, CMS2A, FCCMS, SCCMS, CMS3A, CMS3B, CMS3C, cholinergic receptor nicotinic delta subunit
External IDsMGI: 87893 HomoloGene: 37340 GeneCards: CHRND
Gene location (Human)
Chr.Chromosome 2 (human)[1]
Band2q37.1Start232,525,993 bp[1]
End232,536,667 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

1144

11447

Ensembl

ENSG00000135902

ENSMUSG00000026251

UniProt

Q07001

P02716

RefSeq (mRNA)

NM_000751
NM_001256657
NM_001311195
NM_001311196

NM_021600

RefSeq (protein)

NP_000742
NP_001243586
NP_001298124
NP_001298125

NP_067611

Location (UCSC)Chr 2: 232.53 – 232.54 MbChr 1: 87.19 – 87.2 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

See also

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000135902 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000026251 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. 1 2 "Entrez Gene: CHRND cholinergic receptor, nicotinic, delta".
  6. ↑ 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.
  7. ↑ 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.

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: 17–27. doi:10.1111/j.1749-6632.1998.tb10907.x. PMID 9668219.
  • 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.
  • 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.
  • 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.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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