Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

P30532 (ACHA5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 142. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Neuronal acetylcholine receptor subunit alpha-5
Gene names
Name:CHRNA5
Synonyms:NACHRA5
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length468 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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.

Subunit structure

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

Subcellular location

Cell junctionsynapsepostsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Polymorphism

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) [MIM:612052].

Sequence similarities

Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha-5/CHRNA5 sub-subfamily. [View classification]

Ontologies

Keywords
   Biological processIon transport
Transport
   Cellular componentCell junction
Cell membrane
Membrane
Postsynaptic cell membrane
Synapse
   Coding sequence diversityPolymorphism
   DomainSignal
Transmembrane
Transmembrane helix
   Molecular functionIon channel
Ligand-gated ion channel
Receptor
   PTMDisulfide bond
Glycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processbehavioral response to nicotine

Inferred from mutant phenotype PubMed 18227835. Source: UniProtKB

cation transport

Non-traceable author statement Ref.1. Source: GOC

ion transmembrane transport

Traceable author statement PubMed 20438829. Source: GOC

signal transduction

Non-traceable author statement Ref.3. Source: UniProtKB

synaptic transmission

Traceable author statement Ref.3. Source: UniProtKB

transport

Non-traceable author statement Ref.1. Source: ProtInc

   Cellular_componentacetylcholine-gated channel complex

Inferred by curator Ref.1. Source: UniProtKB

cell junction

Inferred from electronic annotation. Source: UniProtKB-KW

plasma membrane

Traceable author statement. Source: Reactome

postsynaptic membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionacetylcholine receptor activity

Inferred from direct assay Ref.1. Source: UniProtKB

acetylcholine-activated cation-selective channel activity

Non-traceable author statement Ref.1. Source: UniProtKB

ligand-gated ion channel activity

Traceable author statement PubMed 20438829. Source: DFLAT

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2222 Potential
Chain23 – 468446Neuronal acetylcholine receptor subunit alpha-5
PRO_0000000356

Regions

Topological domain23 – 254232Extracellular Potential
Transmembrane255 – 27521Helical; Potential
Transmembrane282 – 30221Helical; Potential
Transmembrane317 – 33721Helical; Potential
Topological domain338 – 42992Cytoplasmic Potential
Transmembrane430 – 45122Helical; Potential
Topological domain452 – 46817Extracellular Potential

Amino acid modifications

Glycosylation1551N-linked (GlcNAc...) Potential
Glycosylation1831N-linked (GlcNAc...) Potential
Glycosylation2291N-linked (GlcNAc...) Potential
Disulfide bond170 ↔ 184 By similarity
Disulfide bond234 ↔ 235Associated with receptor activation By similarity

Natural variations

Natural variant1341V → I.
Corresponds to variant rs2229961 [ dbSNP | Ensembl ].
VAR_046211
Natural variant3981D → N Associated with susceptibility to lung cancer. Ref.2 Ref.4
Corresponds to variant rs16969968 [ dbSNP | Ensembl ].
VAR_046212

Experimental info

Sequence conflict23 – 3412RCGLA…AGGAQ → ALRSSRARRAAR in AAA58357. Ref.1
Sequence conflict1281V → S in AAA58357. Ref.1
Sequence conflict3651C → S in AAA58357. Ref.1
Sequence conflict4051R → T in AAA58357. Ref.1

Sequences

Sequence LengthMass (Da)Tools
P30532 [UniParc].

Last modified November 1, 1997. Version 2.
Checksum: 7FE91A2E362289C0

FASTA46853,054
        10         20         30         40         50         60 
MAARGSGPRA LRLLLLVQLV AGRCGLAGAA GGAQRGLSEP SSIAKHEDSL LKDLFQDYER 

        70         80         90        100        110        120 
WVRPVEHLND KIKIKFGLAI SQLVDVDEKN QLMTTNVWLK QEWIDVKLRW NPDDYGGIKV 

       130        140        150        160        170        180 
IRVPSDSVWT PDIVLFDNAD GRFEGTSTKT VIRYNGTVTW TPPANYKSSC TIDVTFFPFD 

       190        200        210        220        230        240 
LQNCSMKFGS WTYDGSQVDI ILEDQDVDKR DFFDNGEWEI VSATGSKGNR TDSCCWYPYV 

       250        260        270        280        290        300 
TYSFVIKRLP LFYTLFLIIP CIGLSFLTVL VFYLPSNEGE KICLCTSVLV SLTVFLLVIE 

       310        320        330        340        350        360 
EIIPSSSKVI PLIGEYLVFT MIFVTLSIMV TVFAINIHHR SSSTHNAMAP LVRKIFLHTL 

       370        380        390        400        410        420 
PKLLCMRSHV DRYFTQKEET ESGSGPKSSR NTLEAALDSI RYITRHIMKE NDVREVVEDW 

       430        440        450        460 
KFIAQVLDRM FLWTFLFVSI VGSLGLFVPV IYKWANILIP VHIGNANK 

« Hide

References

« Hide 'large scale' references
[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]"Genomics: when the smoke clears."
Chanock S.J., Hunter D.J.
Nature 452:537-538(2008) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]"Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1."
Amos C.I., Wu X., Broderick P., Gorlov I.P., Gu J., Eisen T., Dong Q., Zhang Q., Gu X., Vijayakrishnan J., Sullivan K., Matakidou A., Wang Y., Mills G., Doheny K., Tsai Y.-Y., Chen W.V., Shete S., Spitz M.R., Houlston R.S.
Nat. Genet. 40:616-622(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN SQTL3 AND LUNG CANCER.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M83712 mRNA. Translation: AAA58357.1.
U62434 mRNA. Translation: AAB40112.1.
Y08419 mRNA. Translation: CAA69696.1.
AJ306481 expand/collapse EMBL AC list , AJ306482, AJ306483, AJ306484, AJ306485, AJ306486 Genomic DNA. Translation: CAC34820.1.
BC033639 mRNA. Translation: AAH33639.1.
CCDSCCDS10304.1.
PIRA38223.
RefSeqNP_000736.2. NM_000745.3.
UniGeneHs.1614.
Hs.719767.

3D structure databases

ProteinModelPortalP30532.
SMRP30532. Positions 44-447.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107560. 2 interactions.
IntActP30532. 1 interaction.
STRING9606.ENSP00000299565.

Chemistry

BindingDBP30532.
ChEMBLCHEMBL2221346.
GuidetoPHARMACOLOGY466.

PTM databases

PhosphoSiteP30532.

Polymorphism databases

DMDM2506126.

Proteomic databases

MaxQBP30532.
PaxDbP30532.
PRIDEP30532.

Protocols and materials databases

DNASU1138.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000299565; ENSP00000299565; ENSG00000169684.
GeneID1138.
KEGGhsa:1138.
UCSCuc002bdy.3. human.

Organism-specific databases

CTD1138.
GeneCardsGC15P078857.
HGNCHGNC:1959. CHRNA5.
HPAHPA054381.
MIM118505. gene.
612052. phenotype.
neXtProtNX_P30532.
PharmGKBPA26491.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG267611.
HOGENOMHOG000006756.
HOVERGENHBG003756.
InParanoidP30532.
KOK04807.
OMAFEDYERW.
OrthoDBEOG72JWGV.
PhylomeDBP30532.
TreeFamTF315605.

Enzyme and pathway databases

ReactomeREACT_13685. Neuronal System.

Gene expression databases

ArrayExpressP30532.
BgeeP30532.
CleanExHS_CHRNA5.
GenevestigatorP30532.

Family and domain databases

Gene3D1.20.120.370. 2 hits.
2.70.170.10. 1 hit.
InterProIPR027361. 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]
PANTHERPTHR18945. PTHR18945. 1 hit.
PfamPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 2 hits.
[Graphical view]
PRINTSPR00254. NICOTINICR.
PR00252. NRIONCHANNEL.
SUPFAMSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsTIGR00860. LIC. 1 hit.
PROSITEPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiCHRNA5.
GenomeRNAi1138.
NextBio4734.
PROP30532.
SOURCESearch...

Entry information

Entry nameACHA5_HUMAN
AccessionPrimary (citable) accession number: P30532
Secondary accession number(s): Q15824, Q99554
Entry history
Integrated into UniProtKB/Swiss-Prot: April 1, 1993
Last sequence update: November 1, 1997
Last modified: July 9, 2014
This is version 142 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM