UniProtKB - Q07001 (ACHD_HUMAN)
Acetylcholine receptor subunit delta
CHRND
Functioni
GO - Molecular functioni
- acetylcholine binding Source: Ensembl
- acetylcholine-gated cation-selective channel activity Source: ProtInc
- neurotransmitter receptor activity Source: GO_Central
- transmembrane signaling receptor activity Source: InterPro
- transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential Source: SynGO
GO - Biological processi
- chemical synaptic transmission Source: GO_Central
- ion transmembrane transport Source: GO_Central
- muscle contraction Source: ProtInc
- musculoskeletal movement Source: BHF-UCL
- nervous system process Source: GO_Central
- neuromuscular process Source: BHF-UCL
- regulation of membrane potential Source: GO_Central
- signal transduction Source: GO_Central
- skeletal muscle contraction Source: Ensembl
- skeletal muscle tissue growth Source: BHF-UCL
Keywordsi
Molecular function | Ion channel, Ligand-gated ion channel, Receptor |
Biological process | Ion transport, Transport |
Enzyme and pathway databases
PathwayCommonsi | Q07001 |
Reactomei | R-HSA-629587, Highly sodium permeable postsynaptic acetylcholine nicotinic receptors |
Protein family/group databases
TCDBi | 1.A.9.1.1, the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family |
Names & Taxonomyi
Protein namesi | Recommended name: Acetylcholine receptor subunit delta |
Gene namesi | Name:CHRND Synonyms:ACHRD |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:1965, CHRND |
MIMi | 100720, gene |
neXtProti | NX_Q07001 |
VEuPathDBi | HostDB:ENSG00000135902.9 |
Subcellular locationi
Cytosol
- cytosol Source: HPA
Nucleus
- nucleoplasm Source: HPA
Plasma Membrane
- acetylcholine-gated channel complex Source: ProtInc
- integral component of plasma membrane Source: GO_Central
- integral component of postsynaptic specialization membrane Source: Ensembl
- plasma membrane Source: HPA
- postsynaptic membrane Source: BHF-UCL
Other locations
- neuromuscular junction Source: SynGO
- neuron projection Source: GO_Central
- synapse Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 22 – 245 | ExtracellularSequence analysisAdd BLAST | 224 | |
Transmembranei | 246 – 270 | HelicalSequence analysisAdd BLAST | 25 | |
Transmembranei | 278 – 299 | HelicalSequence analysisAdd BLAST | 22 | |
Transmembranei | 312 – 333 | HelicalSequence analysisAdd BLAST | 22 | |
Topological domaini | 334 – 471 | CytoplasmicSequence analysisAdd BLAST | 138 | |
Transmembranei | 472 – 490 | HelicalSequence analysisAdd BLAST | 19 |
Keywords - Cellular componenti
Cell junction, Cell membrane, Membrane, Postsynaptic cell membrane, SynapsePathology & Biotechi
Involvement in diseasei
Multiple pterygium syndrome, lethal type (LMPS)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_043905 | 95 | F → L in LMPS. 1 PublicationCorresponds to variant dbSNP:rs121909506EnsemblClinVar. | 1 |
Myasthenic syndrome, congenital, 3A, slow-channel (CMS3A)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_019566 | 289 | S → F in CMS3A; delayed closure of AchR ion channels, increasing the propensity for open-channel block, as well as a reduced rate of channel opening. 1 PublicationCorresponds to variant dbSNP:rs121909502EnsemblClinVar. | 1 |
Myasthenic syndrome, congenital, 3B, fast-channel (CMS3B)3 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_073691 | 42 | L → P in CMS3B; results in reduced gating efficiency; slows opening of the channel; decreases probability that the channel will open in response to ACh. 1 Publication | 1 | |
Natural variantiVAR_073692 | 79 | I → K in CMS3B; prevents expression of the AChR on the cell surface; is a null mutation. 1 PublicationCorresponds to variant dbSNP:rs121909509EnsemblClinVar. | 1 | |
Natural variantiVAR_021210 | 80 | E → K in CMS3B; reduced adult and fetal AChR expression and a reduced probability of both adult and fetal AChR being in the open state. 1 PublicationCorresponds to variant dbSNP:rs121909504EnsemblClinVar. | 1 | |
Natural variantiVAR_021211 | 271 | P → Q in CMS3B; burst duration was decreased and disassociation of ACh was increased resulting in brief channel opening episodes; shows abnormal association with alpha CHRNA1 subunit resulting in a decreased number of fully assembled AChRs. 1 PublicationCorresponds to variant dbSNP:rs121909503EnsemblClinVar. | 1 |
Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency (CMS3C)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_073694 | 402 | E → K in CMS3C; results in reduced expression of the AChR at the cell surface; impairs normal clustering of the AChR channel with RAPSN. 1 PublicationCorresponds to variant dbSNP:rs145955590EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 290 | V → A: Increased length of channel opening. 1 Publication | 1 |
Keywords - Diseasei
Congenital myasthenic syndrome, Disease variantOrganism-specific databases
DisGeNETi | 1144 |
GeneReviewsi | CHRND |
MalaCardsi | CHRND |
MIMi | 253290, phenotype 616321, phenotype 616322, phenotype 616323, phenotype |
OpenTargetsi | ENSG00000135902 |
Orphaneti | 33108, Lethal multiple pterygium syndrome 98913, Postsynaptic congenital myasthenic syndromes |
PharmGKBi | PA26497 |
Miscellaneous databases
Pharosi | Q07001, Tclin |
Chemistry databases
ChEMBLi | CHEMBL3011 |
DrugCentrali | Q07001 |
GuidetoPHARMACOLOGYi | 476 |
Genetic variation databases
BioMutai | CHRND |
DMDMi | 543759 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 21 | By similarityAdd BLAST | 21 | |
ChainiPRO_0000000322 | 22 – 517 | Acetylcholine receptor subunit deltaAdd BLAST | 496 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 97 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 151 ↔ 165 | By similarity | ||
Glycosylationi | 164 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 390 | Phosphotyrosine; by Tyr-kinasesBy similarity | 1 |
Keywords - PTMi
Disulfide bond, Glycoprotein, PhosphoproteinProteomic databases
MaxQBi | Q07001 |
PaxDbi | Q07001 |
PeptideAtlasi | Q07001 |
PRIDEi | Q07001 |
ProteomicsDBi | 5090 58494 [Q07001-1] |
PTM databases
GlyGeni | Q07001, 2 sites |
iPTMneti | Q07001 |
PhosphoSitePlusi | Q07001 |
Expressioni
Gene expression databases
Bgeei | ENSG00000135902, Expressed in gastrocnemius and 75 other tissues |
ExpressionAtlasi | Q07001, baseline and differential |
Genevisiblei | Q07001, HS |
Organism-specific databases
HPAi | ENSG00000135902, Tissue enriched (skeletal) |
Interactioni
Subunit structurei
Pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains. The muscle heteropentamer composed of alpha-1, beta-1, delta, epsilon subunits interacts with the alpha-conotoxin ImII (PubMed:15609996).
1 PublicationProtein-protein interaction databases
BioGRIDi | 107566, 61 interactors |
ComplexPortali | CPX-2179, Muscle-type nicotinic acetylcholine receptor complex, alpha1-beta1-delta-gamma CPX-255, Muscle-type nicotinic acetylcholine receptor complex, alpha1-beta1-delta-epsilon |
IntActi | Q07001, 52 interactors |
STRINGi | 9606.ENSP00000258385 |
Chemistry databases
BindingDBi | Q07001 |
Miscellaneous databases
RNActi | Q07001, protein |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3645, Eukaryota |
GeneTreei | ENSGT00940000159794 |
HOGENOMi | CLU_018074_1_4_1 |
InParanoidi | Q07001 |
OMAi | EKDCWNR |
OrthoDBi | 588360at2759 |
PhylomeDBi | Q07001 |
TreeFami | TF315605 |
Family and domain databases
Gene3Di | 2.70.170.10, 1 hit |
InterProi | View protein in InterPro IPR006202, Neur_chan_lig-bd IPR036734, Neur_chan_lig-bd_sf IPR006201, Neur_channel IPR036719, Neuro-gated_channel_TM_sf IPR006029, Neurotrans-gated_channel_TM IPR018000, Neurotransmitter_ion_chnl_CS IPR002394, Nicotinic_acetylcholine_rcpt |
PANTHERi | PTHR18945, PTHR18945, 1 hit |
Pfami | View protein in Pfam PF02931, Neur_chan_LBD, 1 hit PF02932, Neur_chan_memb, 1 hit |
PRINTSi | PR00254, NICOTINICR PR00252, NRIONCHANNEL |
SUPFAMi | SSF63712, SSF63712, 1 hit SSF90112, SSF90112, 1 hit |
TIGRFAMsi | TIGR00860, LIC, 1 hit |
PROSITEi | View protein in PROSITE PS00236, NEUROTR_ION_CHANNEL, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MEGPVLTLGL LAALAVCGSW GLNEEERLIR HLFQEKGYNK ELRPVAHKEE
60 70 80 90 100
SVDVALALTL SNLISLKEVE ETLTTNVWIE HGWTDNRLKW NAEEFGNISV
110 120 130 140 150
LRLPPDMVWL PEIVLENNND GSFQISYSCN VLVYHYGFVY WLPPAIFRSS
160 170 180 190 200
CPISVTYFPF DWQNCSLKFS SLKYTAKEIT LSLKQDAKEN RTYPVEWIII
210 220 230 240 250
DPEGFTENGE WEIVHRPARV NVDPRAPLDS PSRQDITFYL IIRRKPLFYI
260 270 280 290 300
INILVPCVLI SFMVNLVFYL PADSGEKTSV AISVLLAQSV FLLLISKRLP
310 320 330 340 350
ATSMAIPLIG KFLLFGMVLV TMVVVICVIV LNIHFRTPST HVLSEGVKKL
360 370 380 390 400
FLETLPELLH MSRPAEDGPS PGALVRRSSS LGYISKAEEY FLLKSRSDLM
410 420 430 440 450
FEKQSERHGL ARRLTTARRP PASSEQAQQE LFNELKPAVD GANFIVNHMR
460 470 480 490 500
DQNNYNEEKD SWNRVARTVD RLCLFVVTPV MVVGTAWIFL QGVYNQPPPQ
510
PFPGDPYSYN VQDKRFI
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketB4DKT6 | B4DKT6_HUMAN | Acetylcholine receptor subunit delt... | CHRND | 235 | Annotation score: | ||
C9JJV8 | C9JJV8_HUMAN | Acetylcholine receptor subunit delt... | CHRND | 172 | Annotation score: | ||
F8WBS0 | F8WBS0_HUMAN | Acetylcholine receptor subunit delt... | CHRND | 171 | Annotation score: | ||
F8WB46 | F8WB46_HUMAN | Acetylcholine receptor subunit delt... | CHRND | 108 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_073691 | 42 | L → P in CMS3B; results in reduced gating efficiency; slows opening of the channel; decreases probability that the channel will open in response to ACh. 1 Publication | 1 | |
Natural variantiVAR_073692 | 79 | I → K in CMS3B; prevents expression of the AChR on the cell surface; is a null mutation. 1 PublicationCorresponds to variant dbSNP:rs121909509EnsemblClinVar. | 1 | |
Natural variantiVAR_021210 | 80 | E → K in CMS3B; reduced adult and fetal AChR expression and a reduced probability of both adult and fetal AChR being in the open state. 1 PublicationCorresponds to variant dbSNP:rs121909504EnsemblClinVar. | 1 | |
Natural variantiVAR_043905 | 95 | F → L in LMPS. 1 PublicationCorresponds to variant dbSNP:rs121909506EnsemblClinVar. | 1 | |
Natural variantiVAR_073693 | 114 | V → L Has no appreciable kinetic effects; allows for robust AChR expression. 1 PublicationCorresponds to variant dbSNP:rs760395222Ensembl. | 1 | |
Natural variantiVAR_021211 | 271 | P → Q in CMS3B; burst duration was decreased and disassociation of ACh was increased resulting in brief channel opening episodes; shows abnormal association with alpha CHRNA1 subunit resulting in a decreased number of fully assembled AChRs. 1 PublicationCorresponds to variant dbSNP:rs121909503EnsemblClinVar. | 1 | |
Natural variantiVAR_021212 | 288 | Q → E1 PublicationCorresponds to variant dbSNP:rs41265127EnsemblClinVar. | 1 | |
Natural variantiVAR_019566 | 289 | S → F in CMS3A; delayed closure of AchR ion channels, increasing the propensity for open-channel block, as well as a reduced rate of channel opening. 1 PublicationCorresponds to variant dbSNP:rs121909502EnsemblClinVar. | 1 | |
Natural variantiVAR_036031 | 398 | D → E in a breast cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_073694 | 402 | E → K in CMS3C; results in reduced expression of the AChR at the cell surface; impairs normal clustering of the AChR channel with RAPSN. 1 PublicationCorresponds to variant dbSNP:rs145955590EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_046423 | 67 – 81 | Missing in isoform 2. 1 PublicationAdd BLAST | 15 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X55019 mRNA Translation: CAA38759.1 AK291526 mRNA Translation: BAF84215.1 AK300109 mRNA Translation: BAG61904.1 AK315297 mRNA Translation: BAG37703.1 AC092165 Genomic DNA Translation: AAY24102.1 CH471063 Genomic DNA Translation: EAW71003.1 BC093923 mRNA Translation: AAH93923.1 BC093925 mRNA Translation: AAH93925.1 |
CCDSi | CCDS2494.1 [Q07001-1] CCDS58754.1 [Q07001-2] |
PIRi | A60916 |
RefSeqi | NP_000742.1, NM_000751.2 [Q07001-1] NP_001243586.1, NM_001256657.1 [Q07001-2] NP_001298124.1, NM_001311195.1 NP_001298125.1, NM_001311196.1 |
Genome annotation databases
Ensembli | ENST00000258385; ENSP00000258385; ENSG00000135902 [Q07001-1] ENST00000543200; ENSP00000438380; ENSG00000135902 [Q07001-2] |
GeneIDi | 1144 |
KEGGi | hsa:1144 |
UCSCi | uc002vsw.5, human [Q07001-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X55019 mRNA Translation: CAA38759.1 AK291526 mRNA Translation: BAF84215.1 AK300109 mRNA Translation: BAG61904.1 AK315297 mRNA Translation: BAG37703.1 AC092165 Genomic DNA Translation: AAY24102.1 CH471063 Genomic DNA Translation: EAW71003.1 BC093923 mRNA Translation: AAH93923.1 BC093925 mRNA Translation: AAH93925.1 |
CCDSi | CCDS2494.1 [Q07001-1] CCDS58754.1 [Q07001-2] |
PIRi | A60916 |
RefSeqi | NP_000742.1, NM_000751.2 [Q07001-1] NP_001243586.1, NM_001256657.1 [Q07001-2] NP_001298124.1, NM_001311195.1 NP_001298125.1, NM_001311196.1 |
3D structure databases
SMRi | Q07001 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 107566, 61 interactors |
ComplexPortali | CPX-2179, Muscle-type nicotinic acetylcholine receptor complex, alpha1-beta1-delta-gamma CPX-255, Muscle-type nicotinic acetylcholine receptor complex, alpha1-beta1-delta-epsilon |
IntActi | Q07001, 52 interactors |
STRINGi | 9606.ENSP00000258385 |
Chemistry databases
BindingDBi | Q07001 |
ChEMBLi | CHEMBL3011 |
DrugCentrali | Q07001 |
GuidetoPHARMACOLOGYi | 476 |
Protein family/group databases
TCDBi | 1.A.9.1.1, the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family |
PTM databases
GlyGeni | Q07001, 2 sites |
iPTMneti | Q07001 |
PhosphoSitePlusi | Q07001 |
Genetic variation databases
BioMutai | CHRND |
DMDMi | 543759 |
Proteomic databases
MaxQBi | Q07001 |
PaxDbi | Q07001 |
PeptideAtlasi | Q07001 |
PRIDEi | Q07001 |
ProteomicsDBi | 5090 58494 [Q07001-1] |
Protocols and materials databases
Antibodypediai | 20219, 190 antibodies |
Genome annotation databases
Ensembli | ENST00000258385; ENSP00000258385; ENSG00000135902 [Q07001-1] ENST00000543200; ENSP00000438380; ENSG00000135902 [Q07001-2] |
GeneIDi | 1144 |
KEGGi | hsa:1144 |
UCSCi | uc002vsw.5, human [Q07001-1] |
Organism-specific databases
CTDi | 1144 |
DisGeNETi | 1144 |
GeneCardsi | CHRND |
GeneReviewsi | CHRND |
HGNCi | HGNC:1965, CHRND |
HPAi | ENSG00000135902, Tissue enriched (skeletal) |
MalaCardsi | CHRND |
MIMi | 100720, gene 253290, phenotype 616321, phenotype 616322, phenotype 616323, phenotype |
neXtProti | NX_Q07001 |
OpenTargetsi | ENSG00000135902 |
Orphaneti | 33108, Lethal multiple pterygium syndrome 98913, Postsynaptic congenital myasthenic syndromes |
PharmGKBi | PA26497 |
VEuPathDBi | HostDB:ENSG00000135902.9 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3645, Eukaryota |
GeneTreei | ENSGT00940000159794 |
HOGENOMi | CLU_018074_1_4_1 |
InParanoidi | Q07001 |
OMAi | EKDCWNR |
OrthoDBi | 588360at2759 |
PhylomeDBi | Q07001 |
TreeFami | TF315605 |
Enzyme and pathway databases
PathwayCommonsi | Q07001 |
Reactomei | R-HSA-629587, Highly sodium permeable postsynaptic acetylcholine nicotinic receptors |
Miscellaneous databases
BioGRID-ORCSi | 1144, 17 hits in 870 CRISPR screens |
GeneWikii | CHRND |
GenomeRNAii | 1144 |
Pharosi | Q07001, Tclin |
PROi | PR:Q07001 |
RNActi | Q07001, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000135902, Expressed in gastrocnemius and 75 other tissues |
ExpressionAtlasi | Q07001, baseline and differential |
Genevisiblei | Q07001, HS |
Family and domain databases
Gene3Di | 2.70.170.10, 1 hit |
InterProi | View protein in InterPro IPR006202, Neur_chan_lig-bd IPR036734, Neur_chan_lig-bd_sf IPR006201, Neur_channel IPR036719, Neuro-gated_channel_TM_sf IPR006029, Neurotrans-gated_channel_TM IPR018000, Neurotransmitter_ion_chnl_CS IPR002394, Nicotinic_acetylcholine_rcpt |
PANTHERi | PTHR18945, PTHR18945, 1 hit |
Pfami | View protein in Pfam PF02931, Neur_chan_LBD, 1 hit PF02932, Neur_chan_memb, 1 hit |
PRINTSi | PR00254, NICOTINICR PR00252, NRIONCHANNEL |
SUPFAMi | SSF63712, SSF63712, 1 hit SSF90112, SSF90112, 1 hit |
TIGRFAMsi | TIGR00860, LIC, 1 hit |
PROSITEi | View protein in PROSITE PS00236, NEUROTR_ION_CHANNEL, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ACHD_HUMAN | |
Accessioni | Q07001Primary (citable) accession number: Q07001 Secondary accession number(s): A8K661, B4DT92, Q52LH4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 1, 1994 |
Last sequence update: | June 1, 1994 | |
Last modified: | February 10, 2021 | |
This is version 196 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families