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Protein

Neuronal acetylcholine receptor subunit alpha-5

Gene

CHRNA5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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-gated cation-selective channel activity Source: DFLAT
  • acetylcholine receptor activity Source: UniProtKB
  • ligand-gated ion channel activity Source: DFLAT

GO - Biological processi

  • behavioral response to nicotine Source: UniProtKB
  • chemical synaptic transmission Source: UniProtKB
  • neuromuscular synaptic transmission Source: GO_Central
  • signal transduction Source: UniProtKB
  • synaptic transmission, cholinergic Source: GO_Central

Keywordsi

Molecular functionIon channel, Ligand-gated ion channel, Receptor
Biological processIon transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-629594 Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
R-HSA-629597 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
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000169684.13
HGNCiHGNC:1959 CHRNA5
MIMi118505 gene
neXtProtiNX_P30532

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini23 – 254ExtracellularSequence analysisAdd BLAST232
Transmembranei255 – 275HelicalSequence analysisAdd BLAST21
Transmembranei282 – 302HelicalSequence analysisAdd BLAST21
Transmembranei317 – 337HelicalSequence analysisAdd BLAST21
Topological domaini338 – 429CytoplasmicSequence analysisAdd BLAST92
Transmembranei430 – 451HelicalSequence analysisAdd BLAST22
Topological domaini452 – 468ExtracellularSequence analysisAdd BLAST17

Keywords - Cellular componenti

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

Pathology & Biotechi

Organism-specific databases

DisGeNETi1138
MalaCardsiCHRNA5
MIMi612052 phenotype
OpenTargetsiENSG00000169684
PharmGKBiPA26491

Chemistry databases

ChEMBLiCHEMBL3137273
DrugBankiDB00898 Ethanol
DB00674 Galantamine
DB00184 Nicotine

Polymorphism and mutation databases

BioMutaiCHRNA5
DMDMi2506126

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 22Sequence analysisAdd BLAST22
ChainiPRO_000000035623 – 468Neuronal acetylcholine receptor subunit alpha-5Add BLAST446

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi155N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi170 ↔ 184By similarity
Glycosylationi183N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi229N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi234 ↔ 235Associated with receptor activationBy similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiP30532
MaxQBiP30532
PaxDbiP30532
PeptideAtlasiP30532
PRIDEiP30532

PTM databases

iPTMnetiP30532
PhosphoSitePlusiP30532

Expressioni

Gene expression databases

BgeeiENSG00000169684
CleanExiHS_CHRNA5
ExpressionAtlasiP30532 baseline and differential
GenevisibleiP30532 HS

Organism-specific databases

HPAiHPA054381

Interactioni

Subunit structurei

Neuronal AChR seems to be composed of two different type of subunits: alpha and non-alpha (beta). Interacts with LYPD6 (PubMed:27344019).1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
CHRNB2P177873EBI-6657490,EBI-9008612

Protein-protein interaction databases

BioGridi107560, 9 interactors
IntActiP30532, 4 interactors
STRINGi9606.ENSP00000299565

Chemistry databases

BindingDBiP30532

Structurei

3D structure databases

ProteinModelPortaliP30532
SMRiP30532
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3645 Eukaryota
ENOG410XQGR LUCA
GeneTreeiENSGT00760000118930
HOGENOMiHOG000006756
HOVERGENiHBG003756
InParanoidiP30532
KOiK04807
OMAiRYFTQKE
OrthoDBiEOG091G0R20
PhylomeDBiP30532
TreeFamiTF315605

Family and domain databases

Gene3Di2.70.170.10, 1 hit
InterProiView protein in InterPro
IPR006202 Neur_chan_lig-bd
IPR036734 Neur_chan_lig-bd_sf
IPR006201 Neur_channel
IPR036719 Neuro-gated_channel_TM_sf
IPR006029 Neurotrans-gated_channel_TM
IPR018000 Neurotransmitter_ion_chnl_CS
IPR002394 Nicotinic_acetylcholine_rcpt
PANTHERiPTHR18945 PTHR18945, 1 hit
PfamiView protein in Pfam
PF02931 Neur_chan_LBD, 1 hit
PF02932 Neur_chan_memb, 2 hits
PRINTSiPR00254 NICOTINICR
PR00252 NRIONCHANNEL
SUPFAMiSSF63712 SSF63712, 1 hit
SSF90112 SSF90112, 1 hit
TIGRFAMsiTIGR00860 LIC, 1 hit
PROSITEiView protein in PROSITE
PS00236 NEUROTR_ION_CHANNEL, 1 hit

Sequencei

Sequence statusi: Complete.

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

P30532-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAARGSGPRA LRLLLLVQLV AGRCGLAGAA GGAQRGLSEP SSIAKHEDSL
60 70 80 90 100
LKDLFQDYER WVRPVEHLND KIKIKFGLAI SQLVDVDEKN QLMTTNVWLK
110 120 130 140 150
QEWIDVKLRW NPDDYGGIKV IRVPSDSVWT PDIVLFDNAD GRFEGTSTKT
160 170 180 190 200
VIRYNGTVTW TPPANYKSSC TIDVTFFPFD LQNCSMKFGS WTYDGSQVDI
210 220 230 240 250
ILEDQDVDKR DFFDNGEWEI VSATGSKGNR TDSCCWYPYV TYSFVIKRLP
260 270 280 290 300
LFYTLFLIIP CIGLSFLTVL VFYLPSNEGE KICLCTSVLV SLTVFLLVIE
310 320 330 340 350
EIIPSSSKVI PLIGEYLVFT MIFVTLSIMV TVFAINIHHR SSSTHNAMAP
360 370 380 390 400
LVRKIFLHTL PKLLCMRSHV DRYFTQKEET ESGSGPKSSR NTLEAALDSI
410 420 430 440 450
RYITRHIMKE NDVREVVEDW KFIAQVLDRM FLWTFLFVSI VGSLGLFVPV
460
IYKWANILIP VHIGNANK
Length:468
Mass (Da):53,054
Last modified:November 1, 1997 - v2
Checksum:i7FE91A2E362289C0
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti23 – 34RCGLA…AGGAQ → ALRSSRARRAAR in AAA58357 (PubMed:1542648).CuratedAdd BLAST12
Sequence conflicti128V → S in AAA58357 (PubMed:1542648).Curated1
Sequence conflicti365C → S in AAA58357 (PubMed:1542648).Curated1
Sequence conflicti405R → T in AAA58357 (PubMed:1542648).Curated1

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_046211134V → I. Corresponds to variant dbSNP:rs2229961Ensembl.1
Natural variantiVAR_046212398D → N Associated with susceptibility to lung cancer. 2 PublicationsCorresponds to variant dbSNP:rs16969968EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiACHA5_HUMAN
AccessioniPrimary (citable) accession number: P30532
Secondary accession number(s): Q15824, Q99554
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1993
Last sequence update: November 1, 1997
Last modified: February 28, 2018
This is version 173 of the entry and version 2 of the sequence. See 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

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