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Protein

Acetylcholine receptor subunit delta

Gene

CHRND

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.1 Publication

GO - Molecular functioni

GO - Biological processi

  • cation transmembrane transport Source: GO_Central
  • muscle contraction Source: ProtInc
  • musculoskeletal movement Source: BHF-UCL
  • neuromuscular process Source: BHF-UCL
  • neuromuscular synaptic transmission Source: GO_Central
  • response to nicotine Source: GO_Central
  • signal transduction Source: ProtInc
  • skeletal muscle contraction Source: Ensembl
  • skeletal muscle tissue growth Source: BHF-UCL
  • synaptic transmission, cholinergic Source: GO_Central

Keywordsi

Molecular functionIon channel, Ligand-gated ion channel, Receptor
Biological processIon transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-629587 Highly sodium permeable acetylcholine nicotinic receptors

Protein family/group databases

TCDBi1.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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000135902.9
HGNCiHGNC:1965 CHRND
MIMi100720 gene
neXtProtiNX_Q07001

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini22 – 245ExtracellularSequence analysisAdd BLAST224
Transmembranei246 – 270HelicalSequence analysisAdd BLAST25
Transmembranei278 – 299HelicalSequence analysisAdd BLAST22
Transmembranei312 – 333HelicalSequence analysisAdd BLAST22
Topological domaini334 – 471CytoplasmicSequence analysisAdd BLAST138
Transmembranei472 – 490HelicalSequence analysisAdd BLAST19

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Postsynaptic cell membrane, Synapse

Pathology & Biotechi

Involvement in diseasei

Multiple pterygium syndrome, lethal type (LMPS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionMultiple pterygia are found infrequently in children with arthrogryposis and in fetuses with fetal akinesia syndrome. In lethal multiple pterygium syndrome there is intrauterine growth retardation, multiple pterygia, and flexion contractures causing severe arthrogryposis and fetal akinesia. Subcutaneous edema can be severe, causing fetal hydrops with cystic hygroma and lung hypoplasia. Oligohydramnios and facial anomalies are frequent.
See also OMIM:253290
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04390595F → L in LMPS. 1 PublicationCorresponds to variant dbSNP:rs121909506EnsemblClinVar.1
Myasthenic syndrome, congenital, 3A, slow-channel (CMS3A)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS3A is a slow-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in prolonged AChR channel opening episodes, prolonged endplate currents, and depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane.
See also OMIM:616321
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_021212288Q → E in CMS3A; a benign mutation or a rare polymorphism. 1 PublicationCorresponds to variant dbSNP:rs41265127EnsemblClinVar.1
Natural variantiVAR_019566289S → 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
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS3B is a fast-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in brief opening and activity of the channel, with a rapid decay in endplate current, failure to achieve threshold depolarization of the endplate and consequent failure to fire an action potential.
See also OMIM:616322
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07369142L → 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 Publication1
Natural variantiVAR_07369279I → 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_02121080E → 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_021211271P → 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
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS3C is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current.
See also OMIM:616323
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073694402E → 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 keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi290V → A: Increased length of channel opening. 1 Publication1

Keywords - Diseasei

Congenital myasthenic syndrome, Disease mutation

Organism-specific databases

DisGeNETi1144
GeneReviewsiCHRND
MalaCardsiCHRND
MIMi253290 phenotype
616321 phenotype
616322 phenotype
616323 phenotype
OpenTargetsiENSG00000135902
Orphaneti33108 Lethal multiple pterygium syndrome
98913 Postsynaptic congenital myasthenic syndromes
PharmGKBiPA26497

Chemistry databases

ChEMBLiCHEMBL3011
DrugBankiDB00674 Galantamine
GuidetoPHARMACOLOGYi476

Polymorphism and mutation databases

BioMutaiCHRND
DMDMi543759

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 21By similarityAdd BLAST21
ChainiPRO_000000032222 – 517Acetylcholine receptor subunit deltaAdd BLAST496

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi97N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi151 ↔ 165By similarity
Glycosylationi164N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei390Phosphotyrosine; by Tyr-kinasesBy similarity1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiQ07001
PaxDbiQ07001
PeptideAtlasiQ07001
PRIDEiQ07001
ProteomicsDBi58494

PTM databases

iPTMnetiQ07001
PhosphoSitePlusiQ07001

Expressioni

Gene expression databases

BgeeiENSG00000135902
CleanExiHS_CHRND
ExpressionAtlasiQ07001 baseline and differential
GenevisibleiQ07001 HS

Organism-specific databases

HPAiHPA056404
HPA065404

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 Publication

Protein-protein interaction databases

BioGridi107566, 61 interactors
ComplexPortaliCPX-2179 Muscle-type nicotinic acetylcholine receptor complex alpha1-beta1-delta-gamma
CPX-255 Muscle-type nicotinic acetylcholine receptor complex alpha1-beta1-delta-epsilon
STRINGi9606.ENSP00000258385

Chemistry databases

BindingDBiQ07001

Structurei

3D structure databases

ProteinModelPortaliQ07001
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3645 Eukaryota
ENOG410XQGR LUCA
GeneTreeiENSGT00910000144023
HOGENOMiHOG000006757
HOVERGENiHBG003756
InParanoidiQ07001
KOiK04816
OMAiVLISFMI
OrthoDBiEOG091G0R20
PhylomeDBiQ07001
TreeFamiTF315605

Family and domain databases

Gene3Di2.70.170.10, 1 hit
InterProiView 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
PANTHERiPTHR18945 PTHR18945, 1 hit
PfamiView protein in Pfam
PF02931 Neur_chan_LBD, 1 hit
PF02932 Neur_chan_memb, 1 hit
PRINTSiPR00254 NICOTINICR
PR00252 NRIONCHANNEL
SUPFAMiSSF63712 SSF63712, 1 hit
SSF90112 SSF90112, 1 hit
TIGRFAMsiTIGR00860 LIC, 1 hit
PROSITEiView protein in PROSITE
PS00236 NEUROTR_ION_CHANNEL, 1 hit

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q07001-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:517
Mass (Da):58,895
Last modified:June 1, 1994 - v1
Checksum:i195CEF69358758BD
GO
Isoform 2 (identifier: Q07001-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     67-81: Missing.

Note: No experimental confirmation available.
Show »
Length:502
Mass (Da):57,085
Checksum:iF92918A13048F74A
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07369142L → 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 Publication1
Natural variantiVAR_07369279I → 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_02121080E → 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_04390595F → L in LMPS. 1 PublicationCorresponds to variant dbSNP:rs121909506EnsemblClinVar.1
Natural variantiVAR_073693114V → L Polymorphism; has no appreciable kinetic effects; allows for robust AChR expression. 1 PublicationCorresponds to variant dbSNP:rs760395222Ensembl.1
Natural variantiVAR_021211271P → 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_021212288Q → E in CMS3A; a benign mutation or a rare polymorphism. 1 PublicationCorresponds to variant dbSNP:rs41265127EnsemblClinVar.1
Natural variantiVAR_019566289S → 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_036031398D → E in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_073694402E → 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 keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04642367 – 81Missing in isoform 2. 1 PublicationAdd BLAST15

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
CCDSiCCDS2494.1 [Q07001-1]
CCDS58754.1 [Q07001-2]
PIRiA60916
RefSeqiNP_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
UniGeneiHs.156289

Genome annotation databases

EnsembliENST00000258385; ENSP00000258385; ENSG00000135902 [Q07001-1]
ENST00000543200; ENSP00000438380; ENSG00000135902 [Q07001-2]
GeneIDi1144
KEGGihsa:1144
UCSCiuc002vsw.5 human [Q07001-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiACHD_HUMAN
AccessioniPrimary (citable) accession number: Q07001
Secondary accession number(s): A8K661, B4DT92, Q52LH4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: June 1, 1994
Last modified: July 18, 2018
This is version 177 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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