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Q07001 (ACHD_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 139. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Acetylcholine receptor subunit delta
Gene names
Name:CHRND
Synonyms:ACHRD
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length517 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

Pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains.

Subcellular location

Cell junctionsynapsepostsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Involvement in disease

Multiple pterygium syndrome, lethal type (LMPS) [MIM:253290]: Multiple 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11

Myasthenic syndrome, congenital, slow-channel (SCCMS) [MIM:601462]: A common congenital myasthenic syndrome. Congenital myasthenic syndromes are characterized by 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. Congenital myasthenic syndrome slow-channel type is caused by kinetic abnormalities of the AChR, resulting in prolonged endplate currents and prolonged AChR channel opening episodes.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.7

Myasthenic syndrome, congenital, fast-channel (FCCMS) [MIM:608930]: A congenital myasthenic syndrome characterized by kinetic abnormalities of the AChR. Due in most cases to mutations that decrease activity of the AChR by slowing the rate of opening of the receptor channel, speeding the rate of closure of the channel, or decreasing the number of openings of the channel during ACh occupancy. The result is failure to achieve threshold depolarization of the endplate and consequent failure to fire an action potential.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8 Ref.9

Sequence similarities

Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Delta/CHRND sub-subfamily. [View classification]

Ontologies

Keywords
   Biological processIon transport
Transport
   Cellular componentCell junction
Cell membrane
Membrane
Postsynaptic cell membrane
Synapse
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseCongenital myasthenic syndrome
Disease mutation
   DomainSignal
Transmembrane
Transmembrane helix
   Molecular functionIon channel
Ligand-gated ion channel
Receptor
   PTMDisulfide bond
Glycoprotein
Phosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcation transport

Traceable author statement Ref.6. Source: GOC

muscle contraction

Traceable author statement Ref.6. Source: ProtInc

musculoskeletal movement

Inferred from mutant phenotype Ref.11. Source: BHF-UCL

neuromuscular process

Non-traceable author statement Ref.11. Source: BHF-UCL

regulation of membrane potential

Inferred from electronic annotation. Source: Ensembl

signal transduction

Traceable author statement Ref.6. Source: ProtInc

skeletal muscle tissue growth

Inferred from mutant phenotype Ref.11. Source: BHF-UCL

synaptic transmission

Traceable author statement. Source: Reactome

transport

Traceable author statement Ref.6. Source: ProtInc

   Cellular_componentacetylcholine-gated channel complex

Traceable author statement Ref.6. Source: ProtInc

cell junction

Inferred from electronic annotation. Source: UniProtKB-KW

plasma membrane

Traceable author statement. Source: Reactome

postsynaptic membrane

Non-traceable author statement Ref.11. Source: BHF-UCL

   Molecular_functionacetylcholine binding

Inferred from electronic annotation. Source: Ensembl

acetylcholine-activated cation-selective channel activity

Traceable author statement Ref.6. Source: ProtInc

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q07001-1)

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.
Isoform 2 (identifier: Q07001-2)

The sequence of this isoform differs from the canonical sequence as follows:
     67-81: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2121 By similarity
Chain22 – 517496Acetylcholine receptor subunit delta
PRO_0000000322

Regions

Topological domain22 – 245224Extracellular Potential
Transmembrane246 – 27025Helical; Potential
Transmembrane278 – 29922Helical; Potential
Transmembrane312 – 33322Helical; Potential
Topological domain334 – 471138Cytoplasmic Potential
Transmembrane472 – 49019Helical; Potential

Amino acid modifications

Modified residue3901Phosphotyrosine; by Tyr-kinases By similarity
Glycosylation971N-linked (GlcNAc...) Potential
Glycosylation1641N-linked (GlcNAc...) Potential
Disulfide bond151 ↔ 165 By similarity

Natural variations

Alternative sequence67 – 8115Missing in isoform 2.
VSP_046423
Natural variant801E → K in FCCMS; reduced adult and fetal AChR expression and a reduced probability of both adult and fetal AChR being in the open state. Ref.8
VAR_021210
Natural variant951F → L in LMPS. Ref.11
VAR_043905
Natural variant2711P → Q in FCCMS; 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. Ref.9
VAR_021211
Natural variant2881Q → E in SCCMS; a benign mutation or a rare polymorphism. Ref.6
Corresponds to variant rs41265127 [ dbSNP | Ensembl ].
VAR_021212
Natural variant2891S → F in SCCMS; delayed closure of AchR ion channels, increasing the propensity for open-channel block, as well as a reduced rate of channel opening. Ref.7
VAR_019566
Natural variant3981D → E in a breast cancer sample; somatic mutation. Ref.10
VAR_036031

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 1, 1994. Version 1.
Checksum: 195CEF69358758BD

FASTA51758,895
        10         20         30         40         50         60 
MEGPVLTLGL LAALAVCGSW GLNEEERLIR HLFQEKGYNK ELRPVAHKEE SVDVALALTL 

        70         80         90        100        110        120 
SNLISLKEVE ETLTTNVWIE HGWTDNRLKW NAEEFGNISV LRLPPDMVWL PEIVLENNND 

       130        140        150        160        170        180 
GSFQISYSCN VLVYHYGFVY WLPPAIFRSS CPISVTYFPF DWQNCSLKFS SLKYTAKEIT 

       190        200        210        220        230        240 
LSLKQDAKEN RTYPVEWIII DPEGFTENGE WEIVHRPARV NVDPRAPLDS PSRQDITFYL 

       250        260        270        280        290        300 
IIRRKPLFYI INILVPCVLI SFMVNLVFYL PADSGEKTSV AISVLLAQSV FLLLISKRLP 

       310        320        330        340        350        360 
ATSMAIPLIG KFLLFGMVLV TMVVVICVIV LNIHFRTPST HVLSEGVKKL FLETLPELLH 

       370        380        390        400        410        420 
MSRPAEDGPS PGALVRRSSS LGYISKAEEY FLLKSRSDLM FEKQSERHGL ARRLTTARRP 

       430        440        450        460        470        480 
PASSEQAQQE LFNELKPAVD GANFIVNHMR DQNNYNEEKD SWNRVARTVD RLCLFVVTPV 

       490        500        510 
MVVGTAWIFL QGVYNQPPPQ PFPGDPYSYN VQDKRFI 

« Hide

Isoform 2 [UniParc].

Checksum: F92918A13048F74A
Show »

FASTA50257,085

References

« Hide 'large scale' references
[1]"A muscle acetylcholine receptor is expressed in the human cerebellar medulloblastoma cell line TE671."
Luther M.A., Schoepfer R., Whiting P., Casey B., Blatt Y., Montal M.S., Montal M., Lindstrom J.
J. Neurosci. 9:1082-1096(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
Tissue: Pericardium.
[3]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Heart and Lung.
[6]"New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome."
Engel A.G., Ohno K., Milone M., Wang H.-L., Nakano S., Bouzat C., Pruitt J.N. II, Hutchinson D.O., Brengman J.M., Bren N., Sieb J.P., Sine S.M.
Hum. Mol. Genet. 5:1217-1227(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SCCMS GLU-288.
[7]"Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms."
Gomez C.M., Maselli R.A., Vohra B.P.S., Navedo M., Stiles J.R., Charnet P., Schott K., Rojas L., Keesey J., Verity A., Wollmann R.W., Lasalde-Dominicci J.
Ann. Neurol. 51:102-112(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SCCMS PHE-289, CHARACTERIZATION OF VARIANT SCCMS PHE-289.
[8]"Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita."
Brownlow S., Webster R., Croxen R., Brydson M., Neville B., Lin J.-P., Vincent A., Newsom-Davis J., Beeson D.
J. Clin. Invest. 108:125-130(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT FCCMS LYS-80, CHARACTERIZATION OF VARIANT FCCMS LYS-80.
[9]"Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation."
Shen X.-M., Ohno K., Fukudome T., Tsujino A., Brengman J.M., De Vivo D.C., Packer R.J., Engel A.G.
Neurology 59:1881-1888(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT FCCMS GLN-271, CHARACTERIZATION OF VARIANT FCCMS GLN-271.
[10]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] GLU-398.
[11]"Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders."
Michalk A., Stricker S., Becker J., Rupps R., Pantzar T., Miertus J., Botta G., Naretto V.G., Janetzki C., Yaqoob N., Ott C.-E., Seelow D., Wieczorek D., Fiebig B., Wirth B., Hoopmann M., Walther M., Koerber F. expand/collapse author list , Blankenburg M., Mundlos S., Heller R., Hoffmann K.
Am. J. Hum. Genet. 82:464-476(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LMPS LEU-95.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRA60916.
RefSeqNP_000742.1. NM_000751.2.
NP_001243586.1. NM_001256657.1.
UniGeneHs.156289.

3D structure databases

ProteinModelPortalQ07001.
SMRQ07001. Positions 22-500.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107566. 1 interaction.
STRING9606.ENSP00000258385.

Chemistry

BindingDBQ07001.
ChEMBLCHEMBL3011.

Protein family/group databases

TCDB1.A.9.1.1. the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family.

PTM databases

PhosphoSiteQ07001.

Polymorphism databases

DMDM543759.

Proteomic databases

PaxDbQ07001.
PRIDEQ07001.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000258385; ENSP00000258385; ENSG00000135902. [Q07001-1]
ENST00000543200; ENSP00000438380; ENSG00000135902. [Q07001-2]
GeneID1144.
KEGGhsa:1144.
UCSCuc002vsw.4. human. [Q07001-1]
uc010zmg.3. human.

Organism-specific databases

CTD1144.
GeneCardsGC02P233390.
HGNCHGNC:1965. CHRND.
MIM100720. gene.
253290. phenotype.
601462. phenotype.
608930. phenotype.
neXtProtNX_Q07001.
Orphanet33108. Lethal multiple pterygium syndrome.
98913. Postsynaptic congenital myasthenic syndromes.
PharmGKBPA26497.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG294470.
HOGENOMHOG000006757.
HOVERGENHBG003756.
InParanoidQ07001.
KOK04816.
OMAIVNHMRD.
OrthoDBEOG7Q2N6W.
PhylomeDBQ07001.
TreeFamTF315605.

Enzyme and pathway databases

ReactomeREACT_13685. Neuronal System.

Gene expression databases

ArrayExpressQ07001.
BgeeQ07001.
CleanExHS_CHRND.
GenevestigatorQ07001.

Family and domain databases

Gene3D1.20.120.370. 2 hits.
2.70.170.10. 1 hit.
InterProIPR027361. Acetylcholine_rcpt_TM.
IPR006202. Neur_chan_lig-bd.
IPR006201. Neur_channel.
IPR006029. Neurotrans-gated_channel_TM.
IPR018000. Neurotransmitter_ion_chnl_CS.
IPR002394. Nicotinic_acetylcholine_rcpt.
[Graphical view]
PANTHERPTHR18945. PTHR18945. 1 hit.
PfamPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view]
PRINTSPR00254. NICOTINICR.
PR00252. NRIONCHANNEL.
SUPFAMSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsTIGR00860. LIC. 1 hit.
PROSITEPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiCHRND.
GenomeRNAi1144.
NextBio4760.
PROQ07001.
SOURCESearch...

Entry information

Entry nameACHD_HUMAN
AccessionPrimary (citable) accession number: Q07001
Secondary accession number(s): A8K661, B4DT92, Q52LH4
Entry history
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: June 1, 1994
Last modified: April 16, 2014
This is version 139 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM