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P43681

- ACHA4_HUMAN

UniProt

P43681 - ACHA4_HUMAN

Protein

Neuronal acetylcholine receptor subunit alpha-4

Gene

CHRNA4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 154 (01 Oct 2014)
      Sequence version 2 (01 Feb 1996)
      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 permeable to sodium ions.1 Publication

    GO - Molecular functioni

    1. acetylcholine-activated cation-selective channel activity Source: UniProtKB
    2. acetylcholine binding Source: UniProtKB
    3. acetylcholine receptor activity Source: UniProtKB
    4. ligand-gated ion channel activity Source: DFLAT

    GO - Biological processi

    1. action potential Source: UniProtKB
    2. B cell activation Source: UniProtKB
    3. behavioral response to nicotine Source: UniProtKB
    4. calcium ion transport Source: UniProtKB
    5. cognition Source: UniProtKB
    6. DNA repair Source: UniProtKB
    7. exploration behavior Source: Ensembl
    8. ion transmembrane transport Source: GOC
    9. ion transport Source: UniProtKB
    10. locomotory behavior Source: Ensembl
    11. membrane depolarization Source: UniProtKB
    12. neurological system process Source: UniProtKB
    13. regulation of dopamine secretion Source: UniProtKB
    14. regulation of inhibitory postsynaptic membrane potential Source: UniProtKB
    15. regulation of membrane potential Source: UniProtKB
    16. respiratory gaseous exchange Source: Ensembl
    17. response to hypoxia Source: UniProtKB
    18. response to nicotine Source: UniProtKB
    19. response to oxidative stress Source: UniProtKB
    20. sensory perception of pain Source: UniProtKB
    21. signal transduction Source: UniProtKB
    22. synaptic transmission Source: UniProtKB
    23. synaptic transmission, cholinergic Source: UniProtKB

    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.
    REACT_22303. Highly calcium permeable postsynaptic nicotinic acetylcholine receptors.
    REACT_22352. Highly calcium permeable nicotinic acetylcholine receptors.

    Protein family/group databases

    TCDBi1.A.9.1.6. the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Neuronal acetylcholine receptor subunit alpha-4
    Gene namesi
    Name:CHRNA4
    Synonyms:NACRA4
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 20

    Organism-specific databases

    HGNCiHGNC:1958. CHRNA4.

    Subcellular locationi

    GO - Cellular componenti

    1. acetylcholine-gated channel complex Source: UniProtKB
    2. cell junction Source: UniProtKB-KW
    3. dendrite Source: UniProtKB
    4. external side of plasma membrane Source: UniProtKB
    5. integral component of membrane Source: UniProtKB
    6. membrane Source: UniProtKB
    7. neuronal cell body Source: UniProtKB
    8. plasma membrane Source: UniProtKB
    9. postsynaptic membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

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

    Pathology & Biotechi

    Involvement in diseasei

    Epilepsy, nocturnal frontal lobe, 1 (ENFL1) [MIM:600513]: An autosomal dominant focal epilepsy characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti280 – 2801S → F in ENFL1. 1 Publication
    VAR_000295
    Natural varianti280 – 2801S → L in ENFL1. 2 Publications
    VAR_017531

    Keywords - Diseasei

    Disease mutation, Epilepsy

    Organism-specific databases

    MIMi600513. phenotype.
    Orphaneti98784. Autosomal dominant nocturnal frontal lobe epilepsy.
    PharmGKBiPA26490.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2828Sequence AnalysisAdd
    BLAST
    Chaini29 – 627599Neuronal acetylcholine receptor subunit alpha-4PRO_0000000351Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi57 – 571N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi107 – 1071N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi161 ↔ 175By similarity
    Glycosylationi174 – 1741N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi225 ↔ 226Associated with receptor activationBy similarity
    Lipidationi271 – 2711S-palmitoyl cysteineBy similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Lipoprotein, Palmitate

    Proteomic databases

    PaxDbiP43681.
    PRIDEiP43681.

    PTM databases

    PhosphoSiteiP43681.

    Expressioni

    Gene expression databases

    ArrayExpressiP43681.
    BgeeiP43681.
    CleanExiHS_CHRNA4.
    GenevestigatoriP43681.

    Organism-specific databases

    HPAiCAB034064.

    Interactioni

    Subunit structurei

    Neuronal AChR is composed of two different types of subunits: alpha and beta. Alpha-4 subunit can be combined to beta-2 or beta-4 to give rise to functional receptors, complexes with beta-2 may be heteropentamers. Interacts with RIC3; which is required for proper folding and assembly.2 Publications

    Protein-protein interaction databases

    BioGridi107559. 3 interactions.
    IntActiP43681. 1 interaction.
    MINTiMINT-3015931.
    STRINGi9606.ENSP00000359285.

    Structurei

    Secondary structure

    1
    627
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi244 – 26623
    Helixi273 – 29523
    Beta strandi300 – 3023
    Helixi307 – 32923
    Helixi598 – 61821
    Turni622 – 6243

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2GVTmodel-A/C38-241[»]
    2LLYNMR-A240-339[»]
    A598-626[»]
    ProteinModelPortaliP43681.
    SMRiP43681. Positions 37-339, 598-625.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini29 – 242214ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini331 – 600270CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei243 – 26725HelicalSequence AnalysisAdd
    BLAST
    Transmembranei275 – 29319HelicalSequence AnalysisAdd
    BLAST
    Transmembranei309 – 33022HelicalSequence AnalysisAdd
    BLAST
    Transmembranei601 – 61919HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG290206.
    HOGENOMiHOG000006756.
    HOVERGENiHBG003756.
    InParanoidiP43681.
    KOiK04806.
    OMAiSFCVPLD.
    OrthoDBiEOG72JWGV.
    PhylomeDBiP43681.
    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. 2 hits.
    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: P43681-1) [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

    MELGGPGAPR LLPPLLLLLG TGLLRASSHV ETRAHAEERL LKKLFSGYNK    50
    WSRPVANISD VVLVRFGLSI AQLIDVDEKN QMMTTNVWVK QEWHDYKLRW 100
    DPADYENVTS IRIPSELIWR PDIVLYNNAD GDFAVTHLTK AHLFHDGRVQ 150
    WTPPAIYKSS CSIDVTFFPF DQQNCTMKFG SWTYDKAKID LVNMHSRVDQ 200
    LDFWESGEWV IVDAVGTYNT RKYECCAEIY PDITYAFVIR RLPLFYTINL 250
    IIPCLLISCL TVLVFYLPSE CGEKITLCIS VLLSLTVFLL LITEIIPSTS 300
    LVIPLIGEYL LFTMIFVTLS IVITVFVLNV HHRSPRTHTM PTWVRRVFLD 350
    IVPRLLLMKR PSVVKDNCRR LIESMHKMAS APRFWPEPEG EPPATSGTQS 400
    LHPPSPSFCV PLDVPAEPGP SCKSPSDQLP PQQPLEAEKA SPHPSPGPCR 450
    PPHGTQAPGL AKARSLSVQH MSSPGEAVEG GVRCRSRSIQ YCVPRDDAAP 500
    EADGQAAGAL ASRNTHSAEL PPPDQPSPCK CTCKKEPSSV SPSATVKTRS 550
    TKAPPPHLPL SPALTRAVEG VQYIADHLKA EDTDFSVKED WKYVAMVIDR 600
    IFLWMFIIVC LLGTVGLFLP PWLAGMI 627
    Length:627
    Mass (Da):69,957
    Last modified:February 1, 1996 - v2
    Checksum:iB3A0C0151E5A2AA8
    GO
    Isoform 2 (identifier: P43681-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-57: MELGGPGAPR...YNKWSRPVAN → MRMSPPSASP...VWTAGCPGEG
         58-128: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:556
    Mass (Da):60,994
    Checksum:iCE5902DBC1231CA3
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti4 – 41G → E in AAH96290. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti280 – 2801S → F in ENFL1. 1 Publication
    VAR_000295
    Natural varianti280 – 2801S → L in ENFL1. 2 Publications
    VAR_017531
    Natural varianti387 – 3871E → G.1 Publication
    Corresponds to variant rs45604738 [ dbSNP | Ensembl ].
    VAR_023402
    Natural varianti517 – 5171S → L.1 Publication
    Corresponds to variant rs45622132 [ dbSNP | Ensembl ].
    VAR_023403

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 5757MELGG…RPVAN → MRMSPPSASPPSSSGGRTSS STTTAGEPFWAGVLFAIRPH PGLSGRIVWTAGCPGEG in isoform 2. 1 PublicationVSP_054275Add
    BLAST
    Alternative sequencei58 – 12871Missing in isoform 2. 1 PublicationVSP_054276Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L35901 mRNA. Translation: AAA64743.1.
    X89741
    , X89742, X89743, X89744, X89745, X89746 Genomic DNA. Translation: CAA61893.1.
    U62433 mRNA. Translation: AAB40111.1.
    Y08421 mRNA. Translation: CAA69698.1.
    DQ093071 Genomic DNA. Translation: AAY88737.1.
    AL121827 Genomic DNA. No translation available.
    BC096290 mRNA. Translation: AAH96290.1.
    BC096291 mRNA. Translation: AAH96291.1.
    X87629 mRNA. Translation: CAA60959.1.
    CCDSiCCDS13517.1. [P43681-1]
    PIRiJC4021.
    RefSeqiNP_000735.1. NM_000744.6. [P43681-1]
    NP_001243502.1. NM_001256573.1.
    UniGeneiHs.10734.

    Genome annotation databases

    EnsembliENST00000370263; ENSP00000359285; ENSG00000101204. [P43681-1]
    GeneIDi1137.
    KEGGihsa:1137.
    UCSCiuc002yes.3. human. [P43681-1]

    Polymorphism databases

    DMDMi1351848.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    NIEHS-SNPs

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L35901 mRNA. Translation: AAA64743.1 .
    X89741
    , X89742 , X89743 , X89744 , X89745 , X89746 Genomic DNA. Translation: CAA61893.1 .
    U62433 mRNA. Translation: AAB40111.1 .
    Y08421 mRNA. Translation: CAA69698.1 .
    DQ093071 Genomic DNA. Translation: AAY88737.1 .
    AL121827 Genomic DNA. No translation available.
    BC096290 mRNA. Translation: AAH96290.1 .
    BC096291 mRNA. Translation: AAH96291.1 .
    X87629 mRNA. Translation: CAA60959.1 .
    CCDSi CCDS13517.1. [P43681-1 ]
    PIRi JC4021.
    RefSeqi NP_000735.1. NM_000744.6. [P43681-1 ]
    NP_001243502.1. NM_001256573.1.
    UniGenei Hs.10734.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2GVT model - A/C 38-241 [» ]
    2LLY NMR - A 240-339 [» ]
    A 598-626 [» ]
    ProteinModelPortali P43681.
    SMRi P43681. Positions 37-339, 598-625.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107559. 3 interactions.
    IntActi P43681. 1 interaction.
    MINTi MINT-3015931.
    STRINGi 9606.ENSP00000359285.

    Chemistry

    BindingDBi P43681.
    ChEMBLi CHEMBL3038461.
    DrugBanki DB01351. Amobarbital.
    DB01352. Aprobarbital.
    DB00237. Butabarbital.
    DB00241. Butalbital.
    DB01353. Butethal.
    DB00514. Dextromethorphan.
    DB00674. Galantamine.
    DB01354. Heptabarbital.
    DB01355. Hexobarbital.
    DB00849. Methylphenobarbital.
    DB00184. Nicotine.
    DB00312. Pentobarbital.
    DB01174. Phenobarbital.
    DB00794. Primidone.
    DB00418. Secobarbital.
    DB00306. Talbutal.
    DB00599. Thiopental.
    DB01273. Varenicline.
    GuidetoPHARMACOLOGYi 465.

    Protein family/group databases

    TCDBi 1.A.9.1.6. the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family.

    PTM databases

    PhosphoSitei P43681.

    Polymorphism databases

    DMDMi 1351848.

    Proteomic databases

    PaxDbi P43681.
    PRIDEi P43681.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000370263 ; ENSP00000359285 ; ENSG00000101204 . [P43681-1 ]
    GeneIDi 1137.
    KEGGi hsa:1137.
    UCSCi uc002yes.3. human. [P43681-1 ]

    Organism-specific databases

    CTDi 1137.
    GeneCardsi GC20M061974.
    GeneReviewsi CHRNA4.
    HGNCi HGNC:1958. CHRNA4.
    HPAi CAB034064.
    MIMi 118504. gene.
    600513. phenotype.
    neXtProti NX_P43681.
    Orphaneti 98784. Autosomal dominant nocturnal frontal lobe epilepsy.
    PharmGKBi PA26490.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG290206.
    HOGENOMi HOG000006756.
    HOVERGENi HBG003756.
    InParanoidi P43681.
    KOi K04806.
    OMAi SFCVPLD.
    OrthoDBi EOG72JWGV.
    PhylomeDBi P43681.
    TreeFami TF315605.

    Enzyme and pathway databases

    Reactomei REACT_22223. Highly sodium permeable acetylcholine nicotinic receptors.
    REACT_22303. Highly calcium permeable postsynaptic nicotinic acetylcholine receptors.
    REACT_22352. Highly calcium permeable nicotinic acetylcholine receptors.

    Miscellaneous databases

    GeneWikii CHRNA4.
    GenomeRNAii 1137.
    NextBioi 4730.
    PROi P43681.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P43681.
    Bgeei P43681.
    CleanExi HS_CHRNA4.
    Genevestigatori P43681.

    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. 2 hits.
    TIGRFAMsi TIGR00860. LIC. 1 hit.
    PROSITEi PS00236. NEUROTR_ION_CHANNEL. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and transient expression of genes encoding the human alpha-4 and beta-2 neuronal nicotinic acetylcholine receptor (nAChR) subunits."
      Monteggia L.M., Gopalakrishnan M., Touma E., Idler K.B., Nash N., Arneric S.P., Sullivan J.P., Giordano T.
      Gene 155:189-193(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Brain.
    2. "Exon-intron structure of the human neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4)."
      Steinlein O.K., Weiland S., Stood J., Propping P.
      Genomics 32:289-294(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "Comparative structure of human neuronal alpha 2-alpha 7 and beta 2-beta 4 nicotinic acetylcholine receptor subunits and functional expression of the alpha 2, alpha 3, alpha 4, alpha 7, beta 2, and beta 4 subunits."
      Elliott K.J., Ellis S.B., Berckhan K.J., Urrutia A., Chavez-Noriega L.E., Johnson E.C., Velicelebi G., Harpold M.M.
      J. Mol. Neurosci. 7:217-228(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Hippocampus.
    4. "Cloning and sequence of full-length cDNAs encoding the human neuronal nicotinic acetylcholine receptor (nAChR) subunits beta3 and beta4 and expression of seven nAChR subunits in the human neuroblastoma cell line SH-SY5Y and/or IMR-32."
      Groot Kormelink P.J., Luyten W.H.M.L.
      FEBS Lett. 400:309-314(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    5. NIEHS SNPs program
      Submitted (JUN-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS GLY-387 AND LEU-517.
    6. "The DNA sequence and comparative analysis of human chromosome 20."
      Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
      , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
      Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "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] (ISOFORMS 1 AND 2).
    8. "Molecular cloning of human neuronal nicotinic acetylcholine receptor 4-like subunit."
      Mamalaki A., Remoundos M., Tzartos S.
      Submitted (MAY-1995) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 26-627 (ISOFORM 1).
      Tissue: Brain.
    9. "RIC-3 enhances functional expression of multiple nicotinic acetylcholine receptor subtypes in mammalian cells."
      Lansdell S.J., Gee V.J., Harkness P.C., Doward A.I., Baker E.R., Gibb A.J., Millar N.S.
      Mol. Pharmacol. 68:1431-1438(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH RIC3.
    10. "NMR structures of the transmembrane domains of the alpha4beta2 nAChR."
      Bondarenko V., Mowrey D., Tillman T., Cui T., Liu L.T., Xu Y., Tang P.
      Biochim. Biophys. Acta 1818:1261-1268(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: STRUCTURE BY NMR OF 242-625, SUBUNIT, FUNCTION.
    11. "A missense mutation in the neuronal nicotinic acetylcholine receptor alpha-4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy."
      Steinlein O.K., Mulley J.C., Propping P., Wallace R.H., Phillips H.A., Sutherland G.R., Scheffer I.E., Berkovic S.F.
      Nat. Genet. 11:201-203(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ENFL1 PHE-280.
    12. "A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy."
      Hirose S., Iwata H., Akiyoshi H., Kobayashi K., Ito M., Wada K., Kaneko S., Mitsudome A.
      Neurology 53:1749-1753(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ENFL1 LEU-280.
    13. Cited for: VARIANT ENFL1 LEU-280.

    Entry informationi

    Entry nameiACHA4_HUMAN
    AccessioniPrimary (citable) accession number: P43681
    Secondary accession number(s): Q4JGR7, Q4VAQ5, Q4VAQ6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1995
    Last sequence update: February 1, 1996
    Last modified: October 1, 2014
    This is version 154 of the entry and version 2 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 20
      Human chromosome 20: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3