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Q07001

- ACHD_HUMAN

UniProt

Q07001 - ACHD_HUMAN

Protein

Acetylcholine receptor subunit delta

Gene

CHRND

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 144 (01 Oct 2014)
      Sequence version 1 (01 Jun 1994)
      Previous versions | rss
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    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

    1. acetylcholine-activated cation-selective channel activity Source: ProtInc
    2. acetylcholine binding Source: Ensembl

    GO - Biological processi

    1. cation transport Source: GOC
    2. muscle contraction Source: ProtInc
    3. musculoskeletal movement Source: BHF-UCL
    4. neuromuscular process Source: BHF-UCL
    5. regulation of membrane potential Source: Ensembl
    6. signal transduction Source: ProtInc
    7. skeletal muscle tissue growth Source: BHF-UCL
    8. synaptic transmission Source: Reactome
    9. transport Source: ProtInc

    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: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:1965. CHRND.

    Subcellular locationi

    GO - Cellular componenti

    1. acetylcholine-gated channel complex Source: ProtInc
    2. cell junction Source: UniProtKB-KW
    3. plasma membrane Source: Reactome
    4. postsynaptic membrane Source: BHF-UCL

    Keywords - Cellular componenti

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

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti95 – 951F → L in LMPS. 1 Publication
    VAR_043905
    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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) [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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.

    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

    ArrayExpressiQ07001.
    BgeeiQ07001.
    CleanExiHS_CHRND.
    GenevestigatoriQ07001.

    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. 1 interaction.
    STRINGi9606.ENSP00000258385.

    Structurei

    3D structure databases

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

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini22 – 245224ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini334 – 471138CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei246 – 27025HelicalSequence AnalysisAdd
    BLAST
    Transmembranei278 – 29922HelicalSequence AnalysisAdd
    BLAST
    Transmembranei312 – 33322HelicalSequence AnalysisAdd
    BLAST
    Transmembranei472 – 49019HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG294470.
    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. Align

    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

    MEGPVLTLGL LAALAVCGSW GLNEEERLIR HLFQEKGYNK ELRPVAHKEE    50
    SVDVALALTL SNLISLKEVE ETLTTNVWIE HGWTDNRLKW NAEEFGNISV 100
    LRLPPDMVWL PEIVLENNND GSFQISYSCN VLVYHYGFVY WLPPAIFRSS 150
    CPISVTYFPF DWQNCSLKFS SLKYTAKEIT LSLKQDAKEN RTYPVEWIII 200
    DPEGFTENGE WEIVHRPARV NVDPRAPLDS PSRQDITFYL IIRRKPLFYI 250
    INILVPCVLI SFMVNLVFYL PADSGEKTSV AISVLLAQSV FLLLISKRLP 300
    ATSMAIPLIG KFLLFGMVLV TMVVVICVIV LNIHFRTPST HVLSEGVKKL 350
    FLETLPELLH MSRPAEDGPS PGALVRRSSS LGYISKAEEY FLLKSRSDLM 400
    FEKQSERHGL ARRLTTARRP PASSEQAQQE LFNELKPAVD GANFIVNHMR 450
    DQNNYNEEKD SWNRVARTVD RLCLFVVTPV MVVGTAWIFL QGVYNQPPPQ 500
    PFPGDPYSYN VQDKRFI 517
    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:
    EMBL
    GenBank
    DDBJ
    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.

    Polymorphism databases

    DMDMi543759.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 ]
    UniGenei Hs.156289.

    3D structure databases

    ProteinModelPortali Q07001.
    SMRi Q07001. Positions 22-341, 438-500.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107566. 1 interaction.
    STRINGi 9606.ENSP00000258385.

    Chemistry

    BindingDBi Q07001.
    ChEMBLi CHEMBL3011.
    DrugBanki DB00674. Galantamine.
    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

    PhosphoSitei Q07001.

    Polymorphism databases

    DMDMi 543759.

    Proteomic databases

    PaxDbi Q07001.
    PRIDEi Q07001.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000258385 ; ENSP00000258385 ; ENSG00000135902 . [Q07001-1 ]
    ENST00000543200 ; ENSP00000438380 ; ENSG00000135902 . [Q07001-2 ]
    GeneIDi 1144.
    KEGGi hsa:1144.
    UCSCi uc002vsw.4. human. [Q07001-1 ]
    uc010zmg.3. human.

    Organism-specific databases

    CTDi 1144.
    GeneCardsi GC02P233390.
    GeneReviewsi CHRND.
    HGNCi HGNC:1965. CHRND.
    MIMi 100720. gene.
    253290. phenotype.
    601462. phenotype.
    608930. phenotype.
    neXtProti NX_Q07001.
    Orphaneti 33108. Lethal multiple pterygium syndrome.
    98913. Postsynaptic congenital myasthenic syndromes.
    PharmGKBi PA26497.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG294470.
    HOGENOMi HOG000006757.
    HOVERGENi HBG003756.
    InParanoidi Q07001.
    KOi K04816.
    OMAi IVNHMRD.
    OrthoDBi EOG7Q2N6W.
    PhylomeDBi Q07001.
    TreeFami TF315605.

    Enzyme and pathway databases

    Reactomei REACT_22223. Highly sodium permeable acetylcholine nicotinic receptors.

    Miscellaneous databases

    GeneWikii CHRND.
    GenomeRNAii 1144.
    NextBioi 4760.
    PROi Q07001.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q07001.
    Bgeei Q07001.
    CleanExi HS_CHRND.
    Genevestigatori Q07001.

    Family and domain databases

    Gene3Di 1.20.120.370. 2 hits.
    2.70.170.10. 1 hit.
    InterProi IPR027361. 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 ]
    PANTHERi PTHR18945. PTHR18945. 1 hit.
    Pfami PF02931. Neur_chan_LBD. 1 hit.
    PF02932. Neur_chan_memb. 1 hit.
    [Graphical view ]
    PRINTSi PR00254. NICOTINICR.
    PR00252. NRIONCHANNEL.
    SUPFAMi SSF63712. SSF63712. 1 hit.
    SSF90112. SSF90112. 1 hit.
    TIGRFAMsi TIGR00860. LIC. 1 hit.
    PROSITEi PS00236. NEUROTR_ION_CHANNEL. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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: October 1, 2014
    This is version 144 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