P30926 (ACHB4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Neuronal acetylcholine receptor subunit beta-4

Gene names

Name:

CHRNB4

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

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

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 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 process	Ion transport Transport
Cellular component	Cell junction Cell membrane Membrane Postsynaptic cell membrane Synapse
Coding sequence diversity	Polymorphism
Domain	Signal Transmembrane Transmembrane helix
Molecular function	Ion channel Ligand-gated ion channel Receptor
PTM	Disulfide bond Glycoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	behavioral response to nicotine Inferred from electronic annotation. Source: Compara locomotory behavior Inferred from electronic annotation. Source: Compara regulation of action potential Inferred from electronic annotation. Source: Compara regulation of neurotransmitter secretion Non-traceable author statement Ref.7. Source: UniProtKB regulation of smooth muscle contraction Inferred from electronic annotation. Source: Compara smooth muscle contraction Inferred from electronic annotation. Source: Compara synaptic transmission involved in micturition Inferred from mutant phenotype Ref.5. Source: UniProtKB synaptic transmission, cholinergic Traceable author statement Ref.8. Source: ProtInc
Cellular_component	acetylcholine-gated channel complex Inferred from direct assay Ref.1. Source: UniProtKB cell junction Inferred from electronic annotation. Source: UniProtKB-KW postsynaptic membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	acetylcholine receptor activity Inferred from direct assay Ref.1. Source: UniProtKB acetylcholine-activated cation-selective channel activity Traceable author statement Ref.7Ref.1. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 21	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	21	Helical; Potential
	Topological domain	258 – 265	8	Cytoplasmic Potential
	Transmembrane	266 – 286	21	Helical; Potential
	Topological domain	287 – 298	12	Extracellular Potential
	Transmembrane	299 – 319	21	Helical; Potential
	Topological domain	320 – 460	141	Cytoplasmic Potential
	Transmembrane	461 – 481	21	Helical; Potential
	Topological domain	482 – 498	17	Extracellular Potential
Amino acid modifications
	Glycosylation	36	1	N-linked (GlcNAc...) Potential
	Glycosylation	93	1	N-linked (GlcNAc...) Potential
	Glycosylation	138	1	N-linked (GlcNAc...) Potential
	Glycosylation	166	1	N-linked (GlcNAc...) Potential
	Disulfide bond	153 ↔ 167		By similarity
Natural variations
	Natural variant	91	1	T → I. Corresponds to variant rs12914008 [ dbSNP | Ensembl ].		VAR_048174
	Natural variant	136	1	R → W. Ref.5		VAR_013241
	Natural variant	140	1	S → G. Ref.5 Corresponds to variant rs56218866 [ dbSNP | Ensembl ].		VAR_013242
	Natural variant	467	1	M → V. Ref.5		VAR_013243
Experimental info
	Sequence conflict	72 – 73	2	EQ → DE in CAA48336. Ref.8
	Sequence conflict	121	1	Missing in CAC34819. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	P30926 [UniParc]. Last modified November 1, 1997. Version 2. Checksum: 0D48AB203F3FD03E	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

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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [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 , AJ306455, AJ306456, AJ306457, AJ306458, AJ306459 Genomic DNA. Translation: CAC34819.1.
AF306329 , AF306325, AF306326, AF306327, 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. NM_000750.3.
NP_001243496.1. NM_001256567.1.

UniGene

Hs.624178.

3D structure databases

PDBe
RCSB PDB
PDBj

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

ProteinModelPortal

P30926.

SMR

P30926. Positions 24-485.

ModBase

Search...

Protein-protein interaction databases

STRING

9606.ENSP00000261751.

PTM databases

PhosphoSite

P30926.

Polymorphism databases

DMDM

2506129.

Proteomic databases

PaxDb

P30926.

PRIDE

P30926.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000261751; ENSP00000261751; ENSG00000117971.

GeneID

1143.

KEGG

hsa:1143.

UCSC

uc002bed.1. human.

Organism-specific databases

CTD

1143.

GeneCards

GC15M078916.

HGNC

HGNC:1964. CHRNB4.

MIM

118509. gene.

neXtProt

NX_P30926.

PharmGKB

PA26496.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG290206.

HOGENOM

HOG000006757.

HOVERGEN

HBG003756.

InParanoid

P30926.

KO

K04815.

OMA

TPTASMD.

OrthoDB

EOG4HQDJ4.

PhylomeDB

P30926.

Enzyme and pathway databases

Reactome

REACT_13685. Neuronal System.

Gene expression databases

ArrayExpress

P30926.

Bgee

P30926.

CleanEx

HS_CHRNB4.

Genevestigator

P30926.

GermOnline

ENSG00000117971. Homo sapiens.

Family and domain databases

Gene3D

2.70.170.10. 1 hit.

InterPro

IPR006202. Neur_chan_lig-bd.
IPR006201. Neur_channel.
IPR006029. Neurotrans-gated_channel_TM.
IPR018000. Neurotransmitter_ion_chnl_CS.
IPR002394. Nicotinic_acetylcholine_rcpt.
[Graphical view]

PANTHER

PTHR18945. PTHR18945. 1 hit.

Pfam

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

PRINTS

PR00254. NICOTINICR.
PR00252. NRIONCHANNEL.

SUPFAM

SSF90112. Neu_channel_TM. 1 hit.
SSF63712. Neur_chan_LBD. 1 hit.

TIGRFAMs

TIGR00860. LIC. 1 hit.

PROSITE

PS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

BindingDB

P30926.

ChEMBL

CHEMBL3002.

GenomeRNAi

1143.

NextBio

4756.

SOURCE

Search...

Entry information

Entry name

ACHB4_HUMAN

Accession

Primary (citable) accession number: P30926
Secondary accession number(s): Q16607 , Q4VBA5, Q8WXC8, Q9BQR4

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 1, 1993
Last sequence update:	November 1, 1997
Last modified:	April 3, 2013
This is version 133 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

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.