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UniProtKB/Swiss-Prot entry P43681


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name ACHA4_HUMAN
Primary accession number P43681
Secondary accession numbers Q4JGR7 Q4VAQ6
Integrated into Swiss-Prot on November 1, 1995
Sequence was last modified on February 1, 1996 (Sequence version 2)
Annotations were last modified on    June 16, 2009 (Entry version 97)
Name and origin of the protein
Protein name Neuronal acetylcholine receptor subunit alpha-4 [Precursor]
Synonyms None
Gene name
Name: CHRNA4
Synonyms: NACRA4
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Brain;
DOI=10.1016/0378-1119(94)00914-E; PubMed=7721089 [NCBI, ExPASy, EBI, Israel, Japan]
Monteggia L.M., Gopalakrishnan M., Touma E., Idler K.B., Nash N., Arneric S.P., Sullivan J.P., Giordano T.;
"Cloning and transient expression of genes encoding the human alpha-4 and beta-2 neuronal nicotinic acetylcholine receptor (nAChR) subunits.";
Gene 155:189-193(1995).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
DOI=10.1006/geno.1996.0119; PubMed=8833159 [NCBI, ExPASy, EBI, Israel, Japan]
Steinlein O.K., Weiland S., Stood J., Propping P.;
"Exon-intron structure of the human neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4).";
Genomics 32:289-294(1996).
[3]
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Hippocampus;
DOI=10.1007/BF02736842; PubMed=8906617 [NCBI, ExPASy, EBI, Israel, Japan]
Elliott K.J., Ellis S.B., Berckhan K.J., Urrutia A., Chavez-Noriega L.E., Johnson E.C., Velicelebi G., Harpold M.M.;
"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.";
J. Mol. Neurosci. 7:217-228(1996).
[4]
NUCLEOTIDE SEQUENCE [MRNA].
DOI=10.1016/S0014-5793(96)01383-X; PubMed=9009220 [NCBI, ExPASy, EBI, Israel, Japan]
Groot Kormelink P.J., Luyten W.H.M.L.;
"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.";
FEBS Lett. 400:309-314(1997).
[5]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS GLY-387 AND LEU-517.
NIEHS SNPs program;
Submitted (JUN-2005) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/414865a; PubMed=11780052 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"The DNA sequence and comparative analysis of human chromosome 20.";
Nature 414:865-871(2001).
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[8]
NUCLEOTIDE SEQUENCE [MRNA] OF 26-627.
TISSUE=Brain;
Mamalaki A., Remoundos M., Tzartos S.;
"Molecular cloning of human neuronal nicotinic acetylcholine receptor 4-like subunit.";
Submitted (MAY-1995) to the EMBL/GenBank/DDBJ databases.
[9]
INTERACTION WITH RIC3.
DOI=10.1124/mol.105.017459; PubMed=16120769 [NCBI, ExPASy, EBI, Israel, Japan]
Lansdell S.J., Gee V.J., Harkness P.C., Doward A.I., Baker E.R., Gibb A.J., Millar N.S.;
"RIC-3 enhances functional expression of multiple nicotinic acetylcholine receptor subtypes in mammalian cells.";
Mol. Pharmacol. 68:1431-1438(2005).
[10]
VARIANT ENFL1 PHE-280.
DOI=10.1038/ng1095-201; PubMed=7550350 [NCBI, ExPASy, EBI, Israel, Japan]
Steinlein O.K., Mulley J.C., Propping P., Wallace R.H., Phillips H.A., Sutherland G.R., Scheffer I.E., Berkovic S.F.;
"A missense mutation in the neuronal nicotinic acetylcholine receptor alpha-4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.";
Nat. Genet. 11:201-203(1995).
[11]
VARIANT ENFL1 LEU-280.
PubMed=10563623 [NCBI, ExPASy, EBI, Israel, Japan]
Hirose S., Iwata H., Akiyoshi H., Kobayashi K., Ito M., Wada K., Kaneko S., Mitsudome A.;
"A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy.";
Neurology 53:1749-1753(1999).
[12]
VARIANT ENFL1 LEU-280.
DOI=10.1001/archneur.60.11.1625; PubMed=14623738 [NCBI, ExPASy, EBI, Israel, Japan]
Cho Y.-W., Motamedi G.K., Laufenberg I., Sohn S.-I., Lim J.-G., Lee H., Yi S.-D., Lee J.-H., Kim D.-K., Reba R., Gaillard W.D., Theodore W.H., Lesser R.P., Steinlein O.K.;
"A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation.";
Arch. Neurol. 60:1625-1632(2003).
Comments
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
L35901; AAA64743.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
X89741; CAA61893.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
X89742; CAA61893.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
X89743; CAA61893.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
X89744; CAA61893.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
X89745; CAA61893.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
X89746; CAA61893.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U62433; AAB40111.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
Y08421; CAA69698.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
DQ093071; AAY88737.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL121827; -; NOT_ANNOTATED_CDS; Genomic_DNA.[EMBL / GenBank / DDBJ]
BC096290; AAH96290.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
X87629; CAA60959.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
IPI IPI00020036; -.
PIR JC4021; JC4021.
RefSeq NP_000735.1; -.
UniGene Hs.10734
3D structure databases
PDB
2GVT; Model; -; A/C=38-241.[ExPASy / RCSB / EBI]
PDBsum 2GVT; -.
ModBase P43681.
PTM databases
PhosphoSite P43681; -.
Organism-specific databases
GeneCards GC20M061446; -.
H-InvDB HIX0040627; -.
HGNC HGNC:1958; CHRNA4.
GenAtlas CHRNA4.
MIM 118504; gene. [NCBI / EBI]
600513; phenotype. [NCBI / EBI]
Orphanet 98784; Epilepsy, nocturnal, frontal lobe type.
309; Epilepsy, partial, familial.
PharmGKB PA26490; -.
Gene expression databases
ArrayExpress P43681; -.
Bgee P43681; -.
CleanEx HS_CHRNA4; -.
GermOnline ENSG00000101204; Homo sapiens.
Ontologies
GO
GO:0030054; Cellular component: cell junction (inferred from electronic annotation from UniProtKB-SubCell).
GO:0043025; Cellular component: cell soma (inferred from sequence or structural similarity from UniProtKB).
GO:0030425; Cellular component: dendrite (inferred from sequence or structural similarity from UniProtKB).
GO:0009897; Cellular component: external side of plasma membrane (inferred from sequence or structural similarity from UniProtKB).
GO:0005624; Cellular component: membrane fraction (inferred from sequence or structural similarity from UniProtKB).
GO:0005892; Cellular component: nicotinic acetylcholine-gated receptor-channel complex (inferred from direct assay from UniProtKB).
GO:0045211; Cellular component: postsynaptic membrane (inferred from electronic annotation from UniProtKB-SubCell).
GO:0015464; Molecular function: acetylcholine receptor activity (inferred from direct assay from UniProtKB).
GO:0004889; Molecular function: nicotinic acetylcholine-activated cation-selective channel activity (inferred from direct assay from UniProtKB).
GO:0042113; Biological process: B cell activation (inferred from sequence or structural similarity from UniProtKB).
GO:0035095; Biological process: behavioral response to nicotine (inferred from mutant phenotype from UniProtKB).
GO:0006816; Biological process: calcium ion transport (inferred from sequence or structural similarity from UniProtKB).
GO:0006281; Biological process: DNA repair (inferred from mutant phenotype from UniProtKB).
GO:0051899; Biological process: membrane depolarization (inferred from sequence or structural similarity from UniProtKB).
GO:0001508; Biological process: regulation of action potential (inferred from sequence or structural similarity from UniProtKB).
GO:0014059; Biological process: regulation of dopamine secretion (inferred from sequence or structural similarity from UniProtKB).
GO:0060080; Biological process: regulation of inhibitory postsynaptic membrane potential (inferred from sequence or structural similarity from UniProtKB).
GO:0001666; Biological process: response to hypoxia (inferred from direct assay from UniProtKB).
GO:0006979; Biological process: response to oxidative stress (inferred from mutant phenotype from UniProtKB).
GO:0019233; Biological process: sensory perception of pain (inferred from sequence or structural similarity from UniProtKB).
GO:0007165; Biological process: signal transduction (inferred from direct assay from UniProtKB).
GO:0007271; Biological process: synaptic transmission, cholinergic (inferred from sequence or structural similarity from UniProtKB).
QuickGo view.
Family and domain databases
InterPro IPR006029; Neu_channel_TM.
IPR006202; Neur_chan_lig_bd.
IPR006201; Neur_channel.
IPR018000; Neurotransmitter_ion_chnl_CS.
IPR002394; Nicotinic_acetylcholine_rcpt_N.
Graphical view of domain structure.
Gene3D G3DSA:2.70.170.10; Neur_chan_lig_bd; 1.
PANTHER PTHR18945; Neur_channel; 1.
Pfam PF02931; Neur_chan_LBD; 1.
PF02932; Neur_chan_memb; 1.
Pfam graphical view of domain structure.
PRINTS PR00254; NICOTINICR.
PR00252; NRIONCHANNEL.
TIGRFAMs TIGR00860; LIC; 1.
PROSITE PS00236; NEUROTR_ION_CHANNEL; 1.
Proteomic databases
PRIDE P43681; -.
Genome annotation databases
Ensembl ENSG00000101204; Homo sapiens. [Contig view]
GeneID 1137; -.
KEGG hsa:1137; -.
Phylogenomic databases
HOGENOM P43681; -.
HOVERGEN P43681; -.
OMA P43681; RSTKAPP.
Other
DrugBank DB00184; Nicotine.
DB01273; Varenicline.
NextBio 4730; -.
SOURCE CHRNA4; Homo sapiens.
ProtoNet P43681.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
3D-structure; Cell junction; Cell membrane; Disease mutation; Disulfide bond; Epilepsy; Glycoprotein; Ion transport; Ionic channel; Membrane; Polymorphism; Postsynaptic cell membrane; Signal; Synapse; Transmembrane; Transport.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
SIGNAL   1    28  28     Potential. 
CHAIN   29   627  599     Neuronal acetylcholine receptor subunit alpha-4. PRO_0000000351
TOPO_DOM   29   242  214     Extracellular (Potential). 
TRANSMEM   243   267  25     Potential. 
TRANSMEM   275   293  19     Potential. 
TRANSMEM   309   330  22     Potential. 
TOPO_DOM   331   600  270     Cytoplasmic (Potential). 
TRANSMEM   601   619  19     Potential. 
CARBOHYD   57    57        N-linked (GlcNAc...) (Potential). 
CARBOHYD   107   107        N-linked (GlcNAc...) (Potential). 
CARBOHYD   174   174        N-linked (GlcNAc...) (Potential). 
DISULFID   161   175        By similarity. 
DISULFID   225   226        Associated with receptor activation (By similarity). 
VARIANT   280   280  1     S -> F (in ENFL1). VAR_000295 
VARIANT   280   280  1     S -> L (in ENFL1). VAR_017531 
VARIANT   387   387  1     E -> G (in dbSNP:rs45604738 [NCBI]). VAR_023402 
VARIANT   517   517  1     S -> L (in dbSNP:rs45622132 [NCBI]). VAR_023403 
CONFLICT   4     4        G -> E (in Ref. 7; AAH96290). 
Sequence information
Length: 627 AA [This is the length of the unprocessed precursor] Molecular weight: 69957 Da [This is the MW of the unprocessed precursor] CRC64: B3A0C0151E5A2AA8 [This is a checksum on the sequence]
        10         20         30         40         50         60 
MELGGPGAPR LLPPLLLLLG TGLLRASSHV ETRAHAEERL LKKLFSGYNK WSRPVANISD 

        70         80         90        100        110        120 
VVLVRFGLSI AQLIDVDEKN QMMTTNVWVK QEWHDYKLRW DPADYENVTS IRIPSELIWR 

       130        140        150        160        170        180 
PDIVLYNNAD GDFAVTHLTK AHLFHDGRVQ WTPPAIYKSS CSIDVTFFPF DQQNCTMKFG 

       190        200        210        220        230        240 
SWTYDKAKID LVNMHSRVDQ LDFWESGEWV IVDAVGTYNT RKYECCAEIY PDITYAFVIR 

       250        260        270        280        290        300 
RLPLFYTINL IIPCLLISCL TVLVFYLPSE CGEKITLCIS VLLSLTVFLL LITEIIPSTS 

       310        320        330        340        350        360 
LVIPLIGEYL LFTMIFVTLS IVITVFVLNV HHRSPRTHTM PTWVRRVFLD IVPRLLLMKR 

       370        380        390        400        410        420 
PSVVKDNCRR LIESMHKMAS APRFWPEPEG EPPATSGTQS LHPPSPSFCV PLDVPAEPGP 

       430        440        450        460        470        480 
SCKSPSDQLP PQQPLEAEKA SPHPSPGPCR PPHGTQAPGL AKARSLSVQH MSSPGEAVEG 

       490        500        510        520        530        540 
GVRCRSRSIQ YCVPRDDAAP EADGQAAGAL ASRNTHSAEL PPPDQPSPCK CTCKKEPSSV 

       550        560        570        580        590        600 
SPSATVKTRS TKAPPPHLPL SPALTRAVEG VQYIADHLKA EDTDFSVKED WKYVAMVIDR 

       610        620 
IFLWMFIIVC LLGTVGLFLP PWLAGMI 

P43681 in FASTA format

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