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P43681

- ACHA4_HUMAN

UniProt

P43681 - ACHA4_HUMAN

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Protein

Neuronal acetylcholine receptor subunit alpha-4

Gene
CHRNA4, NACRA4
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - 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 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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini29 – 242214Extracellular Reviewed predictionAdd
BLAST
Transmembranei243 – 26725Helical; Reviewed predictionAdd
BLAST
Transmembranei275 – 29319Helical; Reviewed predictionAdd
BLAST
Transmembranei309 – 33022Helical; Reviewed predictionAdd
BLAST
Topological domaini331 – 600270Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei601 – 61919Helical; Reviewed predictionAdd
BLAST

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
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 – 2828 Reviewed predictionAdd
BLAST
Chaini29 – 627599Neuronal acetylcholine receptor subunit alpha-4PRO_0000000351Add
BLAST

Amino acid modifications

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

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

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. VSP_054275Add
BLAST
Alternative sequencei58 – 12871Missing in isoform 2. VSP_054276Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti4 – 41G → E in AAH96290. 1 Publication

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.
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 DB00184. Nicotine.
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 .
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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 153 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

Similar proteinsi