Neuronal acetylcholine receptor subunit beta-4 precursor

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Reviewed, UniProtKB/Swiss-Prot P30926 (ACHB4_HUMAN)

Last modified February 9, 2010. Version 106. History...

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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

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Names and origin

Protein names

Recommended name:
Neuronal acetylcholine receptor subunit beta-4

Gene names

Name:

CHRNB4

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length	498 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

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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.9
Subcellular location	Cell junction › synapse › postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.
Sequence similarities	Belongs to the ligand-gated ionic channel (TC 1.A.9) family. [View classification]

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Ontologies

Keywords
Biological process	Ion transport Transport
Cellular component	Cell junction Cell membrane Membrane Postsynaptic cell membrane Synapse
Coding sequence diversity	Polymorphism
Domain	Signal Transmembrane
Molecular function	Ionic channel
PTM	Disulfide bond Glycoprotein
Technical term	3D-structure Complete proteome
Gene Ontology (GO)
Biological process	ion transport Ref.1 Traceable author statement. Source: UniProtKB regulation of neurotransmitter secretion Ref.7 Non-traceable author statement. Source: UniProtKB signal transduction Ref.1 Inferred from direct assay. Source: UniProtKB synaptic transmission involved in micturition Ref.5 Inferred from mutant phenotype. Source: UniProtKB synaptic transmission, cholinergic Ref.8 Traceable author statement. Source: ProtInc
Cellular component	cell junction Inferred from electronic annotation. Source: UniProtKB-KW nicotinic acetylcholine-gated receptor-channel complex Ref.1 Ref.7 Inferred from direct assay. Source: UniProtKB postsynaptic membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	acetylcholine receptor activity Ref.1 Inferred from direct assay. Source: UniProtKB nicotinic acetylcholine-activated cation-selective channel activity Ref.1 Ref.7 Traceable author statement. Source: UniProtKB
Complete GO annotation...

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Signal peptide

1 – 21

Potential

Chain

22 – 498

477

Neuronal acetylcholine receptor subunit beta-4

PRO_0000000389

Regions

Topological domain

22 – 236

215

Extracellular Potential

Transmembrane

237 – 257

Potential

Topological domain

258 – 265

Cytoplasmic Potential

Transmembrane

266 – 286

Potential

Topological domain

287 – 298

Extracellular Potential

Transmembrane

299 – 319

Potential

Topological domain

320 – 460

141

Cytoplasmic Potential

Transmembrane

461 – 481

Potential

Topological domain

482 – 498

Extracellular Potential

Amino acid modifications

Glycosylation

N-linked (GlcNAc...) Potential

Glycosylation

N-linked (GlcNAc...) Potential

Glycosylation

138

N-linked (GlcNAc...) Potential

Glycosylation

166

N-linked (GlcNAc...) Potential

Disulfide bond

153 ↔ 167

By similarity

Natural variations

Natural variant

T → I: dbSNP rs12914008.

VAR_048174

Natural variant

136

R → W

VAR_013241

Natural variant

140

S → G: dbSNP rs56218866. Ref.5

VAR_013242

Natural variant

467

M → V

VAR_013243

Experimental info

Sequence conflict

72 – 73

EQ → DE in CAA48336. Ref.8

Sequence conflict

121

Missing in CAC34819. Ref.4

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Sequences

Sequence

Length

Mass (Da)

Tools

P30926-1 [UniParc].

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

FASTA

498

56,380

        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

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References

	« Hide 'large scale' referencesShow '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: 8906617] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[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: 9203638] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[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: 9009220] [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].
[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: 11450844] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS TRP-136; GLY-140 AND VAL-467.
[6]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[7]	"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: 11742001] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-18.
[8]	"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: 1330682] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 48-498.
[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: 16120769] [Abstract] Cited for: INTERACTION WITH RIC3.
+	Additional computationally mapped references.

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Cross-references

Sequence databases

EMBL
GenBank
DDBJ

U62439 mRNA. Translation: AAB40117.1.
U48861 mRNA. Translation: AAA92123.1.
Y08416 mRNA. Translation: CAA69693.1.
AJ306454

AJ306459 Genomic DNA. Translation: CAC34819.1.
AF306329

AF306328 Genomic DNA. Translation: AAL02062.1.
BC096080 mRNA. Translation: AAH96080.1.
BC096082 mRNA. Translation: AAH96082.1.
AF453877 Genomic DNA. Translation: AAL57840.1.
X68275 mRNA. Translation: CAA48336.1.

IPI

IPI00028080.

PIR

G02421.

RefSeq

NP_000741.1.

UniGene

Hs.624178

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2ASG	model	-	B/D/E	262-284	[»]

SMR

P30926. Positions 25-484.

ModBase

Search...

Protein-protein interaction databases

STRING

P30926.

Proteomic databases

PRIDE

P30926.

Genome annotation databases

Ensembl

ENST00000261751; ENSP00000261751; ENSG00000117971; Homo sapiens. [Genome view]

GeneID

1143.

KEGG

hsa:1143.

UCSC

uc002bed.1. human.

Organism-specific databases

CTD

1143.

GeneCards

GC15M076703.

H-InvDB

HIX0038160.

HGNC

HGNC:1964. CHRNB4.

MIM

118509. gene.

PharmGKB

PA26496.

GenAtlas

Search...

Phylogenomic databases

eggNOG

prNOG10228.

HOGENOM

HBG387619.

HOVERGEN

P30926.

InParanoid

P30926.

OMA

MTPTASM.

PhylomeDB

P30926.

Gene expression databases

ArrayExpress

P30926.

Bgee

P30926.

CleanEx

HS_CHRNB4.

Genevestigator

P30926.

GermOnline

ENSG00000117971. Homo sapiens.

Family and domain databases

InterPro

IPR006202. Neur_chan_lig_bd.
IPR006201. Neur_channel.
IPR006029. Neurotrans-gated_channel_TM.
IPR018000. Neurotransmitter_ion_chnl_CS.
IPR002394. Nicotinic_acetylcholine_rcpt_N.
[Graphical view]

Gene3D

G3DSA:2.70.170.10. Neur_chan_lig_bd. 1 hit.

PANTHER

PTHR18945. Neur_channel. 1 hit.

Pfam

PF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view]

PRINTS

PR00254. NICOTINICR.
PR00252. NRIONCHANNEL.

TIGRFAMs

TIGR00860. LIC. 1 hit.

PROSITE

PS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]

ProtoNet

Search...

Other Resources

NextBio

4756.

SOURCE

Search...

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Entry information

Entry name

ACHB4_HUMAN

Accession

Primary (citable) accession number: P30926
Secondary accession number(s): Q16607

Q9BQR4

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 1, 1993
Last sequence update:	November 1, 1997
Last modified:	February 9, 2010
This is version 106 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any 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.

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