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P30532

- ACHA5_HUMAN

UniProt

P30532 - ACHA5_HUMAN

Protein

Neuronal acetylcholine receptor subunit alpha-5

Gene

CHRNA5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 144 (01 Oct 2014)
      Sequence version 2 (01 Nov 1997)
      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: UniProtKB
    2. acetylcholine receptor activity Source: UniProtKB
    3. ligand-gated ion channel activity Source: DFLAT

    GO - Biological processi

    1. behavioral response to nicotine Source: UniProtKB
    2. cation transport Source: GOC
    3. ion transmembrane transport Source: GOC
    4. signal transduction Source: UniProtKB
    5. synaptic transmission Source: UniProtKB
    6. transport Source: ProtInc

    Keywords - Molecular functioni

    Ion channel, Ligand-gated ion channel, Receptor

    Keywords - Biological processi

    Ion transport, Transport

    Enzyme and pathway databases

    ReactomeiREACT_22303. Highly calcium permeable postsynaptic nicotinic acetylcholine receptors.
    REACT_22352. Highly calcium permeable nicotinic acetylcholine receptors.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Neuronal acetylcholine receptor subunit alpha-5
    Gene namesi
    Name:CHRNA5
    Synonyms:NACHRA5
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:1959. CHRNA5.

    Subcellular locationi

    GO - Cellular componenti

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

    Keywords - Cellular componenti

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

    Pathology & Biotechi

    Organism-specific databases

    MIMi612052. phenotype.
    PharmGKBiPA26491.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2222Sequence AnalysisAdd
    BLAST
    Chaini23 – 468446Neuronal acetylcholine receptor subunit alpha-5PRO_0000000356Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi155 – 1551N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi170 ↔ 184By similarity
    Glycosylationi183 – 1831N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi229 – 2291N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi234 ↔ 235Associated with receptor activationBy similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    MaxQBiP30532.
    PaxDbiP30532.
    PRIDEiP30532.

    PTM databases

    PhosphoSiteiP30532.

    Expressioni

    Gene expression databases

    ArrayExpressiP30532.
    BgeeiP30532.
    CleanExiHS_CHRNA5.
    GenevestigatoriP30532.

    Organism-specific databases

    HPAiHPA054381.

    Interactioni

    Subunit structurei

    Neuronal AChR seems to be composed of two different type of subunits: alpha and non-alpha (beta).

    Protein-protein interaction databases

    BioGridi107560. 2 interactions.
    IntActiP30532. 1 interaction.
    STRINGi9606.ENSP00000299565.

    Structurei

    3D structure databases

    ProteinModelPortaliP30532.
    SMRiP30532. Positions 44-447.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini23 – 254232ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini338 – 42992CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini452 – 46817ExtracellularSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei255 – 27521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei282 – 30221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei317 – 33721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei430 – 45122HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG267611.
    HOGENOMiHOG000006756.
    HOVERGENiHBG003756.
    InParanoidiP30532.
    KOiK04807.
    OMAiFEDYERW.
    OrthoDBiEOG72JWGV.
    PhylomeDBiP30532.
    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. 2 hits.
    [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]

    Sequencei

    Sequence statusi: Complete.

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

    P30532-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAARGSGPRA LRLLLLVQLV AGRCGLAGAA GGAQRGLSEP SSIAKHEDSL    50
    LKDLFQDYER WVRPVEHLND KIKIKFGLAI SQLVDVDEKN QLMTTNVWLK 100
    QEWIDVKLRW NPDDYGGIKV IRVPSDSVWT PDIVLFDNAD GRFEGTSTKT 150
    VIRYNGTVTW TPPANYKSSC TIDVTFFPFD LQNCSMKFGS WTYDGSQVDI 200
    ILEDQDVDKR DFFDNGEWEI VSATGSKGNR TDSCCWYPYV TYSFVIKRLP 250
    LFYTLFLIIP CIGLSFLTVL VFYLPSNEGE KICLCTSVLV SLTVFLLVIE 300
    EIIPSSSKVI PLIGEYLVFT MIFVTLSIMV TVFAINIHHR SSSTHNAMAP 350
    LVRKIFLHTL PKLLCMRSHV DRYFTQKEET ESGSGPKSSR NTLEAALDSI 400
    RYITRHIMKE NDVREVVEDW KFIAQVLDRM FLWTFLFVSI VGSLGLFVPV 450
    IYKWANILIP VHIGNANK 468
    Length:468
    Mass (Da):53,054
    Last modified:November 1, 1997 - v2
    Checksum:i7FE91A2E362289C0
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti23 – 3412RCGLA…AGGAQ → ALRSSRARRAAR in AAA58357. (PubMed:1542648)CuratedAdd
    BLAST
    Sequence conflicti128 – 1281V → S in AAA58357. (PubMed:1542648)Curated
    Sequence conflicti365 – 3651C → S in AAA58357. (PubMed:1542648)Curated
    Sequence conflicti405 – 4051R → T in AAA58357. (PubMed:1542648)Curated

    Polymorphismi

    Genetic variations in CHRNA5 have been associated with susceptibility to smoking-related behavioral traits and lung cancer, contributing to the smoking quantitative trait locus 3 (SQTL3) [MIMi:612052].

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti134 – 1341V → I.
    Corresponds to variant rs2229961 [ dbSNP | Ensembl ].
    VAR_046211
    Natural varianti398 – 3981D → N Associated with susceptibility to lung cancer. 2 Publications
    Corresponds to variant rs16969968 [ dbSNP | Ensembl ].
    VAR_046212

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M83712 mRNA. Translation: AAA58357.1.
    U62434 mRNA. Translation: AAB40112.1.
    Y08419 mRNA. Translation: CAA69696.1.
    AJ306481
    , AJ306482, AJ306483, AJ306484, AJ306485, AJ306486 Genomic DNA. Translation: CAC34820.1.
    BC033639 mRNA. Translation: AAH33639.1.
    CCDSiCCDS10304.1.
    PIRiA38223.
    RefSeqiNP_000736.2. NM_000745.3.
    UniGeneiHs.1614.
    Hs.719767.

    Genome annotation databases

    EnsembliENST00000299565; ENSP00000299565; ENSG00000169684.
    GeneIDi1138.
    KEGGihsa:1138.
    UCSCiuc002bdy.3. human.

    Polymorphism databases

    DMDMi2506126.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M83712 mRNA. Translation: AAA58357.1 .
    U62434 mRNA. Translation: AAB40112.1 .
    Y08419 mRNA. Translation: CAA69696.1 .
    AJ306481
    , AJ306482 , AJ306483 , AJ306484 , AJ306485 , AJ306486 Genomic DNA. Translation: CAC34820.1 .
    BC033639 mRNA. Translation: AAH33639.1 .
    CCDSi CCDS10304.1.
    PIRi A38223.
    RefSeqi NP_000736.2. NM_000745.3.
    UniGenei Hs.1614.
    Hs.719767.

    3D structure databases

    ProteinModelPortali P30532.
    SMRi P30532. Positions 44-447.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107560. 2 interactions.
    IntActi P30532. 1 interaction.
    STRINGi 9606.ENSP00000299565.

    Chemistry

    BindingDBi P30532.
    ChEMBLi CHEMBL2221346.
    DrugBanki DB00674. Galantamine.
    DB00184. Nicotine.
    GuidetoPHARMACOLOGYi 466.

    PTM databases

    PhosphoSitei P30532.

    Polymorphism databases

    DMDMi 2506126.

    Proteomic databases

    MaxQBi P30532.
    PaxDbi P30532.
    PRIDEi P30532.

    Protocols and materials databases

    DNASUi 1138.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000299565 ; ENSP00000299565 ; ENSG00000169684 .
    GeneIDi 1138.
    KEGGi hsa:1138.
    UCSCi uc002bdy.3. human.

    Organism-specific databases

    CTDi 1138.
    GeneCardsi GC15P078857.
    HGNCi HGNC:1959. CHRNA5.
    HPAi HPA054381.
    MIMi 118505. gene.
    612052. phenotype.
    neXtProti NX_P30532.
    PharmGKBi PA26491.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG267611.
    HOGENOMi HOG000006756.
    HOVERGENi HBG003756.
    InParanoidi P30532.
    KOi K04807.
    OMAi FEDYERW.
    OrthoDBi EOG72JWGV.
    PhylomeDBi P30532.
    TreeFami TF315605.

    Enzyme and pathway databases

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

    Miscellaneous databases

    GeneWikii CHRNA5.
    GenomeRNAii 1138.
    NextBioi 4734.
    PROi P30532.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P30532.
    Bgeei P30532.
    CleanExi HS_CHRNA5.
    Genevestigatori P30532.

    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. 2 hits.
    [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. "Neuronal-type alpha-bungarotoxin receptors and the alpha 5-nicotinic receptor subunit gene are expressed in neuronal and nonneuronal human cell lines."
      Chini B., Clementi F., Hukovic N., Sher E.
      Proc. Natl. Acad. Sci. U.S.A. 89:1572-1576(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "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], VARIANT ASN-398.
    3. "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].
    4. "Characterization of the genomic structure of human nicotinic acetylcholine receptor CHRNA5/A3/B4 gene cluster: identification of two novel introns in the 3' untranslated region of CHRNA3 and of a tail-to-tail overlap between CHRNA3 and CHRNA5."
      Duga S., Solda G., Asselta R., Bonati M.T., Dalpra L., Malcovati M., Tenchini M.L.
      Submitted (MAR-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ASN-398.
    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].
      Tissue: Eye.
    6. Cited for: INVOLVEMENT IN SQTL3 AND LUNG CANCER.
    7. "A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25."
      Hung R.J., McKay J.D., Gaborieau V., Boffetta P., Hashibe M., Zaridze D., Mukeria A., Szeszenia-Dabrowska N., Lissowska J., Rudnai P., Fabianova E., Mates D., Bencko V., Foretova L., Janout V., Chen C., Goodman G., Field J.K.
      , Liloglou T., Xinarianos G., Cassidy A., McLaughlin J., Liu G., Narod S., Krokan H.E., Skorpen F., Elvestad M.B., Hveem K., Vatten L., Linseisen J., Clavel-Chapelon F., Vineis P., Bueno-de-Mesquita H.B., Lund E., Martinez C., Bingham S., Rasmuson T., Hainaut P., Riboli E., Ahrens W., Benhamou S., Lagiou P., Trichopoulos D., Holcatova I., Merletti F., Kjaerheim K., Agudo A., Macfarlane G., Talamini R., Simonato L., Lowry R., Conway D.I., Znaor A., Healy C., Zelenika D., Boland A., Delepine M., Foglio M., Lechner D., Matsuda F., Blanche H., Gut I., Heath S., Lathrop M., Brennan P.
      Nature 452:633-637(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN SQTL3 AND LUNG CANCER.
    8. Cited for: INVOLVEMENT IN SQTL3 AND LUNG CANCER.

    Entry informationi

    Entry nameiACHA5_HUMAN
    AccessioniPrimary (citable) accession number: P30532
    Secondary accession number(s): Q15824, Q99554
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 1, 1993
    Last sequence update: November 1, 1997
    Last modified: October 1, 2014
    This is version 144 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 15
      Human chromosome 15: 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