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Protein

Acetylcholine receptor subunit delta

Gene

CHRND

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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.

GO - Molecular functioni

  • acetylcholine-activated cation-selective channel activity Source: ProtInc
  • acetylcholine binding Source: Ensembl

GO - Biological processi

  • cation transmembrane transport Source: GOC
  • muscle contraction Source: ProtInc
  • musculoskeletal movement Source: BHF-UCL
  • neuromuscular process Source: BHF-UCL
  • regulation of membrane potential Source: Ensembl
  • signal transduction Source: ProtInc
  • skeletal muscle contraction Source: Ensembl
  • skeletal muscle tissue growth Source: BHF-UCL
  • synaptic transmission Source: Reactome
  • transport Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Ligand-gated ion channel, Receptor

Keywords - Biological processi

Ion transport, Transport

Enzyme and pathway databases

ReactomeiREACT_22223. 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
ProteomesiUP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:1965. CHRND.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini22 – 245224ExtracellularSequence AnalysisAdd
BLAST
Transmembranei246 – 27025HelicalSequence AnalysisAdd
BLAST
Transmembranei278 – 29922HelicalSequence AnalysisAdd
BLAST
Transmembranei312 – 33322HelicalSequence AnalysisAdd
BLAST
Topological domaini334 – 471138CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei472 – 49019HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  • acetylcholine-gated channel complex Source: ProtInc
  • cell junction Source: UniProtKB-KW
  • plasma membrane Source: Reactome
  • postsynaptic membrane Source: BHF-UCL
Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti95 – 951F → L in LMPS. 1 Publication
VAR_043905
Myasthenic syndrome, congenital, slow-channel (SCCMS)2 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:601462
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti288 – 2881Q → E in SCCMS; a benign mutation or a rare polymorphism. 1 Publication
Corresponds to variant rs41265127 [ dbSNP | Ensembl ].
VAR_021212
Natural varianti289 – 2891S → 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. 1 Publication
VAR_019566
Myasthenic syndrome, congenital, fast-channel (FCCMS)2 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:608930
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti80 – 801E → K in FCCMS; reduced adult and fetal AChR expression and a reduced probability of both adult and fetal AChR being in the open state. 1 Publication
VAR_021210
Natural varianti271 – 2711P → 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. 1 Publication
VAR_021211

Keywords - Diseasei

Congenital myasthenic syndrome, Disease mutation

Organism-specific databases

MIMi253290. phenotype.
601462. phenotype.
608930. phenotype.
Orphaneti33108. Lethal multiple pterygium syndrome.
98913. Postsynaptic congenital myasthenic syndromes.
PharmGKBiPA26497.

Chemistry

DrugBankiDB00674. Galantamine.

Polymorphism and mutation databases

BioMutaiCHRND.
DMDMi543759.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2121By similarityAdd
BLAST
Chaini22 – 517496Acetylcholine receptor subunit deltaPRO_0000000322Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi97 – 971N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi151 ↔ 165By similarity
Glycosylationi164 – 1641N-linked (GlcNAc...)Sequence Analysis
Modified residuei390 – 3901Phosphotyrosine; by Tyr-kinasesBy similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ07001.
PRIDEiQ07001.

PTM databases

PhosphoSiteiQ07001.

Expressioni

Gene expression databases

BgeeiQ07001.
CleanExiHS_CHRND.
ExpressionAtlasiQ07001. baseline and differential.
GenevisibleiQ07001. HS.

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.

Protein-protein interaction databases

BioGridi107566. 74 interactions.
STRINGi9606.ENSP00000258385.

Structurei

3D structure databases

ProteinModelPortaliQ07001.
SMRiQ07001. Positions 22-341, 438-500.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG294470.
GeneTreeiENSGT00760000118930.
HOGENOMiHOG000006757.
HOVERGENiHBG003756.
InParanoidiQ07001.
KOiK04816.
OMAiIVNHMRD.
OrthoDBiEOG7Q2N6W.
PhylomeDBiQ07001.
TreeFamiTF315605.

Family and domain databases

Gene3Di1.20.120.370. 2 hits.
2.70.170.10. 1 hit.
InterProiIPR027361. 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]
PANTHERiPTHR18945. PTHR18945. 1 hit.
PfamiPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view]
PRINTSiPR00254. NICOTINICR.
PR00252. NRIONCHANNEL.
SUPFAMiSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsiTIGR00860. LIC. 1 hit.
PROSITEiPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti80 – 801E → K in FCCMS; reduced adult and fetal AChR expression and a reduced probability of both adult and fetal AChR being in the open state. 1 Publication
VAR_021210
Natural varianti95 – 951F → L in LMPS. 1 Publication
VAR_043905
Natural varianti271 – 2711P → 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. 1 Publication
VAR_021211
Natural varianti288 – 2881Q → E in SCCMS; a benign mutation or a rare polymorphism. 1 Publication
Corresponds to variant rs41265127 [ dbSNP | Ensembl ].
VAR_021212
Natural varianti289 – 2891S → 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. 1 Publication
VAR_019566
Natural varianti398 – 3981D → E in a breast cancer sample; somatic mutation. 1 Publication
VAR_036031

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei67 – 8115Missing in isoform 2. 1 PublicationVSP_046423Add
BLAST

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]
UniGeneiHs.156289.

Genome annotation databases

EnsembliENST00000258385; ENSP00000258385; ENSG00000135902. [Q07001-1]
ENST00000543200; ENSP00000438380; ENSG00000135902. [Q07001-2]
GeneIDi1144.
KEGGihsa:1144.
UCSCiuc002vsw.4. human. [Q07001-1]
uc010zmg.3. human.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
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]
UniGeneiHs.156289.

3D structure databases

ProteinModelPortaliQ07001.
SMRiQ07001. Positions 22-341, 438-500.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107566. 74 interactions.
STRINGi9606.ENSP00000258385.

Chemistry

BindingDBiQ07001.
ChEMBLiCHEMBL3011.
DrugBankiDB00674. Galantamine.
GuidetoPHARMACOLOGYi476.

Protein family/group databases

TCDBi1.A.9.1.1. the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family.

PTM databases

PhosphoSiteiQ07001.

Polymorphism and mutation databases

BioMutaiCHRND.
DMDMi543759.

Proteomic databases

PaxDbiQ07001.
PRIDEiQ07001.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000258385; ENSP00000258385; ENSG00000135902. [Q07001-1]
ENST00000543200; ENSP00000438380; ENSG00000135902. [Q07001-2]
GeneIDi1144.
KEGGihsa:1144.
UCSCiuc002vsw.4. human. [Q07001-1]
uc010zmg.3. human.

Organism-specific databases

CTDi1144.
GeneCardsiGC02P233390.
GeneReviewsiCHRND.
HGNCiHGNC:1965. CHRND.
MIMi100720. gene.
253290. phenotype.
601462. phenotype.
608930. phenotype.
neXtProtiNX_Q07001.
Orphaneti33108. Lethal multiple pterygium syndrome.
98913. Postsynaptic congenital myasthenic syndromes.
PharmGKBiPA26497.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG294470.
GeneTreeiENSGT00760000118930.
HOGENOMiHOG000006757.
HOVERGENiHBG003756.
InParanoidiQ07001.
KOiK04816.
OMAiIVNHMRD.
OrthoDBiEOG7Q2N6W.
PhylomeDBiQ07001.
TreeFamiTF315605.

Enzyme and pathway databases

ReactomeiREACT_22223. Highly sodium permeable acetylcholine nicotinic receptors.

Miscellaneous databases

GeneWikiiCHRND.
GenomeRNAii1144.
NextBioi4760.
PROiQ07001.
SOURCEiSearch...

Gene expression databases

BgeeiQ07001.
CleanExiHS_CHRND.
ExpressionAtlasiQ07001. baseline and differential.
GenevisibleiQ07001. HS.

Family and domain databases

Gene3Di1.20.120.370. 2 hits.
2.70.170.10. 1 hit.
InterProiIPR027361. 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]
PANTHERiPTHR18945. PTHR18945. 1 hit.
PfamiPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view]
PRINTSiPR00254. NICOTINICR.
PR00252. NRIONCHANNEL.
SUPFAMiSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsiTIGR00860. LIC. 1 hit.
PROSITEiPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. 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. Cited for: VARIANT [LARGE SCALE ANALYSIS] GLU-398.
  11. Cited for: VARIANT LMPS LEU-95.

Entry informationi

Entry nameiACHD_HUMAN
AccessioniPrimary (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: June 24, 2015
This is version 150 of the entry and version 1 of the sequence. [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

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.