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Protein

Neuronal acetylcholine receptor subunit beta-4

Gene

CHRNB4

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.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei82Key residue that facilitates effective access of the conotoxin BuIA to the channel binding siteBy similarity1
Sitei134Key residue for a low dissociation (K(off)) from the conotoxin BuIABy similarity1

GO - Molecular functioni

  • acetylcholine binding Source: Ensembl
  • acetylcholine-gated cation-selective channel activity Source: UniProtKB
  • acetylcholine receptor activity Source: UniProtKB
  • ligand-gated ion channel activity Source: DFLAT
  • protein heterodimerization activity Source: Ensembl

GO - Biological processi

  • action potential Source: Ensembl
  • behavioral response to nicotine Source: Ensembl
  • ion transport Source: UniProtKB
  • locomotory behavior Source: Ensembl
  • neutrophil degranulation Source: Reactome
  • positive regulation of transmission of nerve impulse Source: Ensembl
  • protein heterooligomerization Source: Ensembl
  • regulation of neurotransmitter secretion Source: UniProtKB
  • regulation of smooth muscle contraction Source: Ensembl
  • response to nicotine Source: GO_Central
  • signal transduction Source: UniProtKB
  • smooth muscle contraction Source: Ensembl
  • synaptic transmission, cholinergic Source: ProtInc
  • synaptic transmission involved in micturition Source: UniProtKB

Keywordsi

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

Enzyme and pathway databases

ReactomeiR-HSA-629587 Highly sodium permeable acetylcholine nicotinic receptors
R-HSA-629594 Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
R-HSA-629597 Highly calcium permeable nicotinic acetylcholine receptors
R-HSA-6798695 Neutrophil degranulation

Names & Taxonomyi

Protein namesi
Recommended name:
Neuronal acetylcholine receptor subunit beta-4
Gene namesi
Name:CHRNB4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000117971.11
HGNCiHGNC:1964 CHRNB4
MIMi118509 gene
neXtProtiNX_P30926

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 domaini22 – 236ExtracellularSequence analysisAdd BLAST215
Transmembranei237 – 257HelicalSequence analysisAdd BLAST21
Topological domaini258 – 265CytoplasmicSequence analysis8
Transmembranei266 – 286HelicalSequence analysisAdd BLAST21
Topological domaini287 – 298ExtracellularSequence analysisAdd BLAST12
Transmembranei299 – 319HelicalSequence analysisAdd BLAST21
Topological domaini320 – 460CytoplasmicSequence analysisAdd BLAST141
Transmembranei461 – 481HelicalSequence analysisAdd BLAST21
Topological domaini482 – 498ExtracellularSequence analysisAdd BLAST17

Keywords - Cellular componenti

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

Pathology & Biotechi

Organism-specific databases

DisGeNETi1143
OpenTargetsiENSG00000117971
PharmGKBiPA26496

Chemistry databases

ChEMBLiCHEMBL3137285
DrugBankiDB00514 Dextromethorphan
DB00898 Ethanol
DB00674 Galantamine
DB01227 Levomethadyl Acetate
DB00184 Nicotine
DB01090 Pentolinium

Polymorphism and mutation databases

BioMutaiCHRNB4
DMDMi2506129

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 21Sequence analysisAdd BLAST21
ChainiPRO_000000038922 – 498Neuronal acetylcholine receptor subunit beta-4Add BLAST477

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi36N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi93N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi138N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi153 ↔ 167By similarity
Glycosylationi166N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiP30926
PaxDbiP30926
PRIDEiP30926

PTM databases

iPTMnetiP30926
PhosphoSitePlusiP30926

Expressioni

Gene expression databases

BgeeiENSG00000117971
CleanExiHS_CHRNB4
ExpressionAtlasiP30926 baseline and differential
GenevisibleiP30926 HS

Interactioni

Subunit structurei

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 (PubMed:16120769). Interacts with LYPD6 (PubMed:27344019). The pentamer alpha3-beta-4 interacts with the conotoxin BuIA (By similarity). The heteropentamer composed of alpha-3 and beta-4 subunits interacts with the alpha-conotoxin ImI (PubMed:15609996).By similarity3 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi107565, 77 interactors
CORUMiP30926
IntActiP30926, 2 interactors
STRINGi9606.ENSP00000261751

Chemistry databases

BindingDBiP30926

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2ASGmodel-B/D/E262-284[»]
ProteinModelPortaliP30926
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3645 Eukaryota
ENOG410XQGR LUCA
GeneTreeiENSGT00760000118930
HOGENOMiHOG000006757
HOVERGENiHBG003756
InParanoidiP30926
KOiK04815
OMAiTFLFMKR
OrthoDBiEOG091G0R20
PhylomeDBiP30926
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, 1 hit
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

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. AlignAdd to basket

Isoform 1 (identifier: P30926-1) [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

        10         20         30         40         50
MRRAPSLVLF FLVALCGRGN CRVANAEEKL MDDLLNKTRY NNLIRPATSS
60 70 80 90 100
SQLISIKLQL SLAQLISVNE REQIMTTNVW LKQEWTDYRL TWNSSRYEGV
110 120 130 140 150
NILRIPAKRI WLPDIVLYNN ADGTYEVSVY TNLIVRSNGS VLWLPPAIYK
160 170 180 190 200
SACKIEVKYF PFDQQNCTLK FRSWTYDHTE IDMVLMTPTA SMDDFTPSGE
210 220 230 240 250
WDIVALPGRR TVNPQDPSYV DVTYDFIIKR KPLFYTINLI IPCVLTTLLA
260 270 280 290 300
ILVFYLPSDC GEKMTLCISV LLALTFFLLL ISKIVPPTSL DVPLIGKYLM
310 320 330 340 350
FTMVLVTFSI VTSVCVLNVH HRSPSTHTMA PWVKRCFLHK LPTFLFMKRP
360 370 380 390 400
GPDSSPARAF PPSKSCVTKP EATATSTSPS NFYGNSMYFV NPASAASKSP
410 420 430 440 450
AGSTPVAIPR DFWLRSSGRF RQDVQEALEG VSFIAQHMKN DDEDQSVVED
460 470 480 490
WKYVAMVVDR LFLWVFMFVC VLGTVGLFLP PLFQTHAASE GPYAAQRD
Length:498
Mass (Da):56,380
Last modified:November 1, 1997 - v2
Checksum:i0D48AB203F3FD03E
GO
Isoform 2 (identifier: P30926-2) [UniParc]FASTAAdd to basket

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

Show »
Length:231
Mass (Da):25,862
Checksum:i4182D0886DD041BE
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti72 – 73EQ → DE in CAA48336 (PubMed:1330682).Curated2
Sequence conflicti121Missing in CAC34819 (Ref. 4) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04817491T → I. Corresponds to variant dbSNP:rs12914008Ensembl.1
Natural variantiVAR_013241136R → W1 PublicationCorresponds to variant dbSNP:rs141876090Ensembl.1
Natural variantiVAR_013242140S → G1 PublicationCorresponds to variant dbSNP:rs56218866Ensembl.1
Natural variantiVAR_013243467M → V1 PublicationCorresponds to variant dbSNP:rs61737502Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_046674120 – 217NADGT…NPQDP → KSLRTGSTWLWWWTGCSCGC SCLCASWALWGSSYRPSSRP MQLLRGPTLPSVTEGPLGCG VRGCEWPGGHFAASFWVVAD EALSKYVSIGHQPHQTSHSR GTGKDGGLGCPL in isoform 2. 1 PublicationAdd BLAST98
Alternative sequenceiVSP_046675218 – 498Missing in isoform 2. 1 PublicationAdd BLAST281

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U62439 mRNA Translation: AAB40117.1
U48861 mRNA Translation: AAA92123.1
Y08416 mRNA Translation: CAA69693.1
AJ306454
, AJ306455, AJ306456, AJ306457, AJ306458, AJ306459 Genomic DNA Translation: CAC34819.1
AF306329
, 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
CCDSiCCDS10306.1 [P30926-1]
CCDS58392.1 [P30926-2]
PIRiG02421
RefSeqiNP_000741.1, NM_000750.3 [P30926-1]
NP_001243496.1, NM_001256567.1 [P30926-2]
UniGeneiHs.624178

Genome annotation databases

EnsembliENST00000261751; ENSP00000261751; ENSG00000117971 [P30926-1]
ENST00000412074; ENSP00000416386; ENSG00000117971 [P30926-2]
GeneIDi1143
KEGGihsa:1143
UCSCiuc002bed.2 human [P30926-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiACHB4_HUMAN
AccessioniPrimary (citable) accession number: P30926
Secondary accession number(s): A4FTX5
, E9PHE8, Q16607, Q4VBA5, Q8WXC8, Q9BQR4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: November 1, 1997
Last modified: April 25, 2018
This is version 182 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

3D-structure, 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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