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P30926

- ACHB4_HUMAN

UniProt

P30926 - ACHB4_HUMAN

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Protein

Neuronal acetylcholine receptor subunit beta-4

Gene
CHRNB4
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.

GO - Molecular functioni

  1. acetylcholine-activated cation-selective channel activity Source: UniProtKB
  2. acetylcholine receptor activity Source: UniProtKB
  3. ligand-gated ion channel activity Source: DFLAT

GO - Biological processi

  1. action potential Source: Ensembl
  2. behavioral response to nicotine Source: Ensembl
  3. cation transport Source: GOC
  4. ion transmembrane transport Source: GOC
  5. ion transport Source: UniProtKB
  6. locomotory behavior Source: Ensembl
  7. regulation of neurotransmitter secretion Source: UniProtKB
  8. regulation of smooth muscle contraction Source: Ensembl
  9. signal transduction Source: UniProtKB
  10. smooth muscle contraction Source: Ensembl
  11. synaptic transmission Source: Reactome
  12. synaptic transmission, cholinergic Source: ProtInc
  13. synaptic transmission involved in micturition 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.

Names & Taxonomyi

Protein namesi
Recommended name:
Neuronal acetylcholine receptor subunit beta-4
Gene namesi
Name:CHRNB4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:1964. CHRNB4.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini22 – 236215Extracellular Reviewed predictionAdd
BLAST
Transmembranei237 – 25721Helical; Reviewed predictionAdd
BLAST
Topological domaini258 – 2658Cytoplasmic Reviewed prediction
Transmembranei266 – 28621Helical; Reviewed predictionAdd
BLAST
Topological domaini287 – 29812Extracellular Reviewed predictionAdd
BLAST
Transmembranei299 – 31921Helical; Reviewed predictionAdd
BLAST
Topological domaini320 – 460141Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei461 – 48121Helical; Reviewed predictionAdd
BLAST
Topological domaini482 – 49817Extracellular Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. acetylcholine-gated channel complex Source: UniProtKB
  2. cell junction Source: UniProtKB-KW
  3. integral component of membrane Source: UniProtKB
  4. integral component of plasma membrane Source: UniProtKB
  5. plasma membrane Source: Reactome
  6. postsynaptic membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA26496.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2121 Reviewed predictionAdd
BLAST
Chaini22 – 498477Neuronal acetylcholine receptor subunit beta-4PRO_0000000389Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi36 – 361N-linked (GlcNAc...) Reviewed prediction
Glycosylationi93 – 931N-linked (GlcNAc...) Reviewed prediction
Glycosylationi138 – 1381N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi153 ↔ 167 By similarity
Glycosylationi166 – 1661N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiP30926.
PRIDEiP30926.

PTM databases

PhosphoSiteiP30926.

Expressioni

Gene expression databases

ArrayExpressiP30926.
BgeeiP30926.
CleanExiHS_CHRNB4.
GenevestigatoriP30926.

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.1 Publication

Protein-protein interaction databases

BioGridi107565. 1 interaction.
STRINGi9606.ENSP00000261751.

Structurei

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2ASGmodel-B/D/E262-284[»]
ProteinModelPortaliP30926.
SMRiP30926. Positions 25-328, 458-484.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG290206.
HOGENOMiHOG000006757.
HOVERGENiHBG003756.
InParanoidiP30926.
KOiK04815.
OMAiMTPTASM.
OrthoDBiEOG72JWGV.
PhylomeDBiP30926.
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. 1 hit.
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: 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

MRRAPSLVLF FLVALCGRGN CRVANAEEKL MDDLLNKTRY NNLIRPATSS    50
SQLISIKLQL SLAQLISVNE REQIMTTNVW LKQEWTDYRL TWNSSRYEGV 100
NILRIPAKRI WLPDIVLYNN ADGTYEVSVY TNLIVRSNGS VLWLPPAIYK 150
SACKIEVKYF PFDQQNCTLK FRSWTYDHTE IDMVLMTPTA SMDDFTPSGE 200
WDIVALPGRR TVNPQDPSYV DVTYDFIIKR KPLFYTINLI IPCVLTTLLA 250
ILVFYLPSDC GEKMTLCISV LLALTFFLLL ISKIVPPTSL DVPLIGKYLM 300
FTMVLVTFSI VTSVCVLNVH HRSPSTHTMA PWVKRCFLHK LPTFLFMKRP 350
GPDSSPARAF PPSKSCVTKP EATATSTSPS NFYGNSMYFV NPASAASKSP 400
AGSTPVAIPR DFWLRSSGRF RQDVQEALEG VSFIAQHMKN DDEDQSVVED 450
WKYVAMVVDR LFLWVFMFVC VLGTVGLFLP PLFQTHAASE GPYAAQRD 498
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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti91 – 911T → I.
Corresponds to variant rs12914008 [ dbSNP | Ensembl ].
VAR_048174
Natural varianti136 – 1361R → W.1 Publication
Corresponds to variant rs141876090 [ dbSNP | Ensembl ].
VAR_013241
Natural varianti140 – 1401S → G.1 Publication
Corresponds to variant rs56218866 [ dbSNP | Ensembl ].
VAR_013242
Natural varianti467 – 4671M → V.1 Publication
Corresponds to variant rs61737502 [ dbSNP | Ensembl ].
VAR_013243

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei120 – 21798NADGT…NPQDP → KSLRTGSTWLWWWTGCSCGC SCLCASWALWGSSYRPSSRP MQLLRGPTLPSVTEGPLGCG VRGCEWPGGHFAASFWVVAD EALSKYVSIGHQPHQTSHSR GTGKDGGLGCPL in isoform 2. VSP_046674Add
BLAST
Alternative sequencei218 – 498281Missing in isoform 2. VSP_046675Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti72 – 732EQ → DE in CAA48336. 1 Publication
Sequence conflicti121 – 1211Missing in CAC34819. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.1. human. [P30926-1]

Polymorphism databases

DMDMi2506129.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS10306.1. [P30926-1 ]
CCDS58392.1. [P30926-2 ]
PIRi G02421.
RefSeqi NP_000741.1. NM_000750.3. [P30926-1 ]
NP_001243496.1. NM_001256567.1. [P30926-2 ]
UniGenei Hs.624178.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2ASG model - B/D/E 262-284 [» ]
ProteinModelPortali P30926.
SMRi P30926. Positions 25-328, 458-484.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107565. 1 interaction.
STRINGi 9606.ENSP00000261751.

Chemistry

BindingDBi P30926.
ChEMBLi CHEMBL2111384.
GuidetoPHARMACOLOGYi 474.

PTM databases

PhosphoSitei P30926.

Polymorphism databases

DMDMi 2506129.

Proteomic databases

PaxDbi P30926.
PRIDEi P30926.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000261751 ; ENSP00000261751 ; ENSG00000117971 . [P30926-1 ]
ENST00000412074 ; ENSP00000416386 ; ENSG00000117971 . [P30926-2 ]
GeneIDi 1143.
KEGGi hsa:1143.
UCSCi uc002bed.1. human. [P30926-1 ]

Organism-specific databases

CTDi 1143.
GeneCardsi GC15M078916.
HGNCi HGNC:1964. CHRNB4.
MIMi 118509. gene.
neXtProti NX_P30926.
PharmGKBi PA26496.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG290206.
HOGENOMi HOG000006757.
HOVERGENi HBG003756.
InParanoidi P30926.
KOi K04815.
OMAi MTPTASM.
OrthoDBi EOG72JWGV.
PhylomeDBi P30926.
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 CHRNB4.
GenomeRNAii 1143.
NextBioi 4756.
PROi P30926.
SOURCEi Search...

Gene expression databases

ArrayExpressi P30926.
Bgeei P30926.
CleanExi HS_CHRNB4.
Genevestigatori P30926.

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. 1 hit.
TIGRFAMsi TIGR00860. LIC. 1 hit.
PROSITEi PS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.

Entry informationi

Entry nameiACHB4_HUMAN
AccessioniPrimary (citable) accession number: P30926
Secondary accession number(s): A4FTX5
, E9PHE8, Q16607, Q4VBA5, Q8WXC8, Q9BQR4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: November 1, 1997
Last modified: September 3, 2014
This is version 148 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 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

External Data

Dasty 3

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