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

P30926 (ACHB4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 147. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Neuronal acetylcholine receptor subunit beta-4
Gene names
Name:CHRNB4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length498 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein 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 is composed of two different types of subunits: alpha and beta. Beta-4 subunit can be combined to alpha-2, alpha-3 or alpha-4 to give rise to functional receptors. Interacts with RIC3; which is required for proper folding and assembly. Ref.10

Subcellular location

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

Sequence similarities

Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Beta-4/CHRNB4 sub-subfamily. [View classification]

Ontologies

Keywords
   Biological processIon transport
Transport
   Cellular componentCell junction
Cell membrane
Membrane
Postsynaptic cell membrane
Synapse
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainSignal
Transmembrane
Transmembrane helix
   Molecular functionIon channel
Ligand-gated ion channel
Receptor
   PTMDisulfide bond
Glycoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processaction potential

Inferred from electronic annotation. Source: Ensembl

behavioral response to nicotine

Inferred from electronic annotation. Source: Ensembl

cation transport

Traceable author statement Ref.8PubMed 20438829Ref.1. Source: GOC

ion transmembrane transport

Traceable author statement PubMed 20438829. Source: GOC

ion transport

Traceable author statement Ref.1. Source: UniProtKB

locomotory behavior

Inferred from electronic annotation. Source: Ensembl

regulation of neurotransmitter secretion

Non-traceable author statement Ref.8. Source: UniProtKB

regulation of smooth muscle contraction

Inferred from electronic annotation. Source: Ensembl

signal transduction

Inferred from direct assay Ref.1. Source: UniProtKB

smooth muscle contraction

Inferred from electronic annotation. Source: Ensembl

synaptic transmission

Traceable author statement. Source: Reactome

synaptic transmission involved in micturition

Inferred from mutant phenotype Ref.5. Source: UniProtKB

synaptic transmission, cholinergic

Traceable author statement Ref.9. Source: ProtInc

   Cellular_componentacetylcholine-gated channel complex

Inferred from direct assay Ref.1. Source: UniProtKB

cell junction

Inferred from electronic annotation. Source: UniProtKB-KW

integral component of membrane

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

integral component of plasma membrane

Inferred by curator Ref.8. Source: UniProtKB

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

Traceable author statement Ref.8Ref.1. Source: UniProtKB

ligand-gated ion channel activity

Traceable author statement PubMed 20438829. Source: DFLAT

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P30926-1)

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.
Isoform 2 (identifier: P30926-2)

The sequence of this isoform differs from the canonical sequence as follows:
     120-217: NADGTYEVSV...GRRTVNPQDP → KSLRTGSTWL...GKDGGLGCPL
     218-498: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2121 Potential
Chain22 – 498477Neuronal acetylcholine receptor subunit beta-4
PRO_0000000389

Regions

Topological domain22 – 236215Extracellular Potential
Transmembrane237 – 25721Helical; Potential
Topological domain258 – 2658Cytoplasmic Potential
Transmembrane266 – 28621Helical; Potential
Topological domain287 – 29812Extracellular Potential
Transmembrane299 – 31921Helical; Potential
Topological domain320 – 460141Cytoplasmic Potential
Transmembrane461 – 48121Helical; Potential
Topological domain482 – 49817Extracellular Potential

Amino acid modifications

Glycosylation361N-linked (GlcNAc...) Potential
Glycosylation931N-linked (GlcNAc...) Potential
Glycosylation1381N-linked (GlcNAc...) Potential
Glycosylation1661N-linked (GlcNAc...) Potential
Disulfide bond153 ↔ 167 By similarity

Natural variations

Alternative sequence120 – 21798NADGT…NPQDP → KSLRTGSTWLWWWTGCSCGC SCLCASWALWGSSYRPSSRP MQLLRGPTLPSVTEGPLGCG VRGCEWPGGHFAASFWVVAD EALSKYVSIGHQPHQTSHSR GTGKDGGLGCPL in isoform 2.
VSP_046674
Alternative sequence218 – 498281Missing in isoform 2.
VSP_046675
Natural variant911T → I.
Corresponds to variant rs12914008 [ dbSNP | Ensembl ].
VAR_048174
Natural variant1361R → W. Ref.5
Corresponds to variant rs141876090 [ dbSNP | Ensembl ].
VAR_013241
Natural variant1401S → G. Ref.5
Corresponds to variant rs56218866 [ dbSNP | Ensembl ].
VAR_013242
Natural variant4671M → V. Ref.5
Corresponds to variant rs61737502 [ dbSNP | Ensembl ].
VAR_013243

Experimental info

Sequence conflict72 – 732EQ → DE in CAA48336. Ref.9
Sequence conflict1211Missing in CAC34819. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 1, 1997. Version 2.
Checksum: 0D48AB203F3FD03E

FASTA49856,380
        10         20         30         40         50         60 
MRRAPSLVLF FLVALCGRGN CRVANAEEKL MDDLLNKTRY NNLIRPATSS SQLISIKLQL 

        70         80         90        100        110        120 
SLAQLISVNE REQIMTTNVW LKQEWTDYRL TWNSSRYEGV NILRIPAKRI WLPDIVLYNN 

       130        140        150        160        170        180 
ADGTYEVSVY TNLIVRSNGS VLWLPPAIYK SACKIEVKYF PFDQQNCTLK FRSWTYDHTE 

       190        200        210        220        230        240 
IDMVLMTPTA SMDDFTPSGE WDIVALPGRR TVNPQDPSYV DVTYDFIIKR KPLFYTINLI 

       250        260        270        280        290        300 
IPCVLTTLLA ILVFYLPSDC GEKMTLCISV LLALTFFLLL ISKIVPPTSL DVPLIGKYLM 

       310        320        330        340        350        360 
FTMVLVTFSI VTSVCVLNVH HRSPSTHTMA PWVKRCFLHK LPTFLFMKRP GPDSSPARAF 

       370        380        390        400        410        420 
PPSKSCVTKP EATATSTSPS NFYGNSMYFV NPASAASKSP AGSTPVAIPR DFWLRSSGRF 

       430        440        450        460        470        480 
RQDVQEALEG VSFIAQHMKN DDEDQSVVED WKYVAMVVDR LFLWVFMFVC VLGTVGLFLP 

       490 
PLFQTHAASE GPYAAQRD 

« Hide

Isoform 2 [UniParc].

Checksum: 4182D0886DD041BE
Show »

FASTA23125,862

References

« Hide 'large scale' references
[1]"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).
[2]"'Orphan' alpha6 nicotinic AChR subunit can form a functional heteromeric acetylcholine receptor."
Gerzanich V., Kuryatov A., Anand R., Lindstrom J.
Mol. Pharmacol. 51:320-327(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[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] (ISOFORM 1).
[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] (ISOFORM 1).
[5]"Characterization of the human beta4 nAChR gene and polymorphisms in CHRNA3 and CHRNB4."
Lev-Lehman E., Bercovich D., Xu W., Stockton D.W., Beaudet A.L.
J. Hum. Genet. 46:362-366(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), VARIANTS TRP-136; GLY-140 AND VAL-467.
[6]"Analysis of the DNA sequence and duplication history of human chromosome 15."
Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. expand/collapse author list , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
Nature 440:671-675(2006) [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] (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-198 (ISOFORM 2).
[8]"Transcription factors NF-Y and Sp1 are important determinants of the promoter activity of the bovine and human neuronal nicotinic receptor beta 4 subunit genes."
Valor L.M., Campos-Caro A., Carrasco-Serrano C., Ortiz J.A., Ballesta J.J., Criado M.
J. Biol. Chem. 277:8866-8876(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-18.
[9]"Neuronal-type nicotinic receptors in human neuroblastoma and small-cell lung carcinoma cell lines."
Tarroni P., Rubboli F., Chini B., Zwart R., Oortgiesen M., Sher E., Clementi F.
FEBS Lett. 312:66-70(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 48-498.
[10]"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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U62439 mRNA. Translation: AAB40117.1.
U48861 mRNA. Translation: AAA92123.1.
Y08416 mRNA. Translation: CAA69693.1.
AJ306454 expand/collapse EMBL AC list , AJ306455, AJ306456, AJ306457, AJ306458, AJ306459 Genomic DNA. Translation: CAC34819.1.
AF306329 expand/collapse EMBL AC list , AF306325, AF306326, AF306327, AF306328 Genomic DNA. Translation: AAL02062.1.
AC022748 Genomic DNA. No translation available.
AC067863 Genomic DNA. No translation available.
BC096080 mRNA. Translation: AAH96080.1.
BC096081 mRNA. Translation: AAH96081.1.
BC096083 mRNA. Translation: AAH96083.1.
BC096082 mRNA. Translation: AAH96082.1.
AF453877 Genomic DNA. Translation: AAL57840.1.
X68275 mRNA. Translation: CAA48336.1.
CCDSCCDS10306.1. [P30926-1]
CCDS58392.1. [P30926-2]
PIRG02421.
RefSeqNP_000741.1. NM_000750.3. [P30926-1]
NP_001243496.1. NM_001256567.1. [P30926-2]
UniGeneHs.624178.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2ASGmodel-B/D/E262-284[»]
ProteinModelPortalP30926.
SMRP30926. Positions 25-328, 458-484.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107565. 1 interaction.
STRING9606.ENSP00000261751.

Chemistry

BindingDBP30926.
ChEMBLCHEMBL2111384.
GuidetoPHARMACOLOGY474.

PTM databases

PhosphoSiteP30926.

Polymorphism databases

DMDM2506129.

Proteomic databases

PaxDbP30926.
PRIDEP30926.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000261751; ENSP00000261751; ENSG00000117971. [P30926-1]
ENST00000412074; ENSP00000416386; ENSG00000117971. [P30926-2]
GeneID1143.
KEGGhsa:1143.
UCSCuc002bed.1. human. [P30926-1]

Organism-specific databases

CTD1143.
GeneCardsGC15M078916.
HGNCHGNC:1964. CHRNB4.
MIM118509. gene.
neXtProtNX_P30926.
PharmGKBPA26496.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG290206.
HOGENOMHOG000006757.
HOVERGENHBG003756.
InParanoidP30926.
KOK04815.
OMAMTPTASM.
OrthoDBEOG72JWGV.
PhylomeDBP30926.
TreeFamTF315605.

Enzyme and pathway databases

ReactomeREACT_13685. Neuronal System.

Gene expression databases

ArrayExpressP30926.
BgeeP30926.
CleanExHS_CHRNB4.
GenevestigatorP30926.

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. 1 hit.
[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

GeneWikiCHRNB4.
GenomeRNAi1143.
NextBio4756.
PROP30926.
SOURCESearch...

Entry information

Entry nameACHB4_HUMAN
AccessionPrimary (citable) accession number: P30926
Secondary accession number(s): A4FTX5 expand/collapse secondary AC list , E9PHE8, Q16607, Q4VBA5, Q8WXC8, Q9BQR4
Entry history
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: November 1, 1997
Last modified: July 9, 2014
This is version 147 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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

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