Gene
chrnd
- ID
- ZDB-GENE-030131-6665
- Name
- cholinergic receptor, nicotinic, delta (muscle)
- Symbol
- chrnd Nomenclature History
- Previous Names
-
- sofa potato
- sop
- wu:fa01e01 (1)
- zgc:110469
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Enables acetylcholine-gated monoatomic cation-selective channel activity. Acts upstream of or within myofibril assembly. Located in plasma membrane. Is expressed in musculature system and somite. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 3A; congenital myasthenic syndrome 3B; and congenital myasthenic syndrome 3C. Orthologous to human CHRND (cholinergic receptor nicotinic delta subunit).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 21 figures from 8 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
la014554Tg | Transgenic insertion | Unknown | Unknown | DNA | |
nia06 | Allele with one point mutation | Unknown | Missense | ENU | |
sa7519 | Allele with one point mutation | Unknown | Missense | ENU | |
sa30106 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sb13 | Allele with one point mutation | Unknown | Unknown | ENU | |
tf207c | unknown | Unknown | Unknown | ENU | |
tj19d | Allele with one point mutation | Unknown | Missense | ENU | |
ts29 | unknown | Unknown | Unknown | ENU |
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No data available
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
congenital myasthenic syndrome 3A | Alliance | ?Myasthenic syndrome, congenital, 3A, slow-channel | 616321 |
congenital myasthenic syndrome 3B | Alliance | Myasthenic syndrome, congenital, 3B, fast-channel | 616322 |
congenital myasthenic syndrome 3C | Alliance | ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency | 616323 |
contractures, pterygia, and spondylocarpotarsal fusion syndrome | Alliance | Multiple pterygium syndrome, lethal type | 253290 |
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Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR018000 | Neurotransmitter-gated ion-channel, conserved site |
Domain | IPR006029 | Neurotransmitter-gated ion-channel transmembrane domain |
Domain | IPR006202 | Neurotransmitter-gated ion-channel ligand-binding domain |
Family | IPR002394 | Nicotinic acetylcholine receptor |
Family | IPR006201 | Neurotransmitter-gated ion-channel |
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Domain Details Per Protein
Protein | Additional Resources | Length | Neuronal acetylcholine receptor | Neurotransmitter-gated ion-channel | Neurotransmitter-gated ion-channel, conserved site | Neurotransmitter-gated ion-channel ligand-binding domain | Neurotransmitter-gated ion-channel ligand-binding domain superfamily | Neurotransmitter-gated ion-channel transmembrane domain | Neurotransmitter-gated ion-channel transmembrane domain superfamily | Nicotinic acetylcholine receptor |
---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:Q75XT1 | InterPro | 518 |
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Interactions and Pathways
No data available
Plasmids
No data available
Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
---|---|---|---|---|---|
Tg(actc1b-hsp70l:Tomato-chrnd) |
|
| 1 | Asakawa et al., 2018 |
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Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | CH211-118O21 | ZFIN Curated Data | |
Encodes | EST | fa01e01 | ||
Encodes | cDNA | MGC:110469 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_207064 (1) | 2066 nt | ||
Genomic | GenBank:CU929293 (2) | 164557 nt | ||
Polypeptide | UniProtKB:Q75XT1 (1) | 518 aa |
- Naruoka, S., Sakata, S., Kawabata, S., Hashiguchi, Y., Daikoku, E., Sakaguchi, S., Okazaki, F., Yoshikawa, K., Rawls, J.F., Nakano, T., Hirose, Y., Ono, F. (2024) A zebrafish gene with sequence similarities to human uromodulin and GP2 displays extensive evolutionary diversification among teleost and confers resistance to bacterial infection. Heliyon. 10:e37510e37510
- Lu, S., Lyu, Z., Wang, Z., Kou, Y., Liu, C., Li, S., Hu, M., Zhu, H., Wang, W., Zhang, C., Kuan, Y.S., Liu, Y.W., Chen, J., Tian, J. (2021) Lipin 1 deficiency causes adult-onset myasthenia with motor neuron dysfunction in humans and neuromuscular junction defects in zebrafish. Theranostics. 11:2788-2805
- Pedersen, J.E., Bergqvist, C.A., Larhammar, D. (2019) Evolution of vertebrate nicotinic acetylcholine receptors. BMC Evolutionary Biology. 19:38
- Asakawa, K., Kawakami, K. (2018) Protocadherin-Mediated Cell Repulsion Controls the Central Topography and Efferent Projections of the Abducens Nucleus. Cell Reports. 24:1562-1572
- Paatero, I., Veikkolainen, V., Mäenpää, M., Schmelzer, E., Belting, H.G., Pelliniemi, L.J., Elenius, K. (2018) ErbB4 tyrosine kinase inhibition impairs neuromuscular development in zebrafish embryos. Molecular biology of the cell. 30(2):209-218
- Mott, M., Luna, V.M., Park, J.Y., Downes, G.B., Epley, K., Ono, F. (2017) Expressing acetylcholine receptors after innervation suppresses spontaneous vesicle release and causes muscle fatigue. Scientific Reports. 7:1674
- Ahmed, K.T., Ali, D.W. (2016) Nicotinic acetylcholine receptors (nAChRs) at zebrafish red and white muscle show different properties during development. Developmental Neurobiology. 76(8):916-36
- Etard, C., Armant, O., Roostalu, U., Gourain, V., Ferg, M., Strähle, U. (2015) Loss of function of myosin chaperones triggers Hsf1-mediated transcriptional response in skeletal muscle cells. Genome biology. 16:267
- Attili, S., Hughes, S.M. (2014) Anaesthetic Tricaine Acts Preferentially on Neural Voltage-Gated Sodium Channels and Fails to Block Directly Evoked Muscle Contraction. PLoS One. 9:e103751
- Menelaou, E., Udvadia, A.J., Tanguay, R.L., Svoboda, K.R. (2014) Activation of α2A-containing nicotinic acetylcholine receptors mediates nicotine-induced motor output in embryonic zebrafish. The European journal of neuroscience. 40(1):2225-2240
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