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Protein

Acetylcholine receptor subunit gamma

Gene

CHRNG

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

  • acetylcholine-gated cation-selective channel activity Source: InterPro
  • acetylcholine receptor activity Source: ProtInc
  • channel activity Source: ProtInc
  • ligand-gated ion channel activity Source: Reactome

GO - Biological processi

  • cation transmembrane transport Source: GO_Central
  • muscle contraction Source: ProtInc
  • neuromuscular synaptic transmission Source: GO_Central
  • response to nicotine Source: GO_Central
  • signal transduction Source: ProtInc
  • synaptic transmission, cholinergic Source: GO_Central
  • transport Source: ProtInc

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.

Protein family/group databases

TCDBi1.A.9.1.1. the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Acetylcholine receptor subunit gamma
Gene namesi
Name:CHRNG
Synonyms:ACHRG
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:1967. CHRNG.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini23 – 240ExtracellularSequence analysisAdd BLAST218
Transmembranei241 – 265HelicalSequence analysisAdd BLAST25
Transmembranei275 – 293HelicalSequence analysisAdd BLAST19
Transmembranei309 – 330HelicalSequence analysisAdd BLAST22
Topological domaini331 – 474CytoplasmicSequence analysisAdd BLAST144
Transmembranei475 – 495HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

Keywords - Cellular componenti

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

Pathology & Biotechi

Involvement in diseasei

Multiple pterygium syndrome, lethal type (LMPS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionMultiple pterygia are found infrequently in children with arthrogryposis and in fetuses with fetal akinesia syndrome. In lethal multiple pterygium syndrome there is intrauterine growth retardation, multiple pterygia, and flexion contractures causing severe arthrogryposis and fetal akinesia. Subcutaneous edema can be severe, causing fetal hydrops with cystic hygroma and lung hypoplasia. Oligohydramnios and facial anomalies are frequent.
See also OMIM:253290
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_030753107V → G in EVMPS and LMPS. 1 PublicationCorresponds to variant dbSNP:rs267606726Ensembl.1
Natural variantiVAR_030755239R → C in EVMPS and LMPS. 1 PublicationCorresponds to variant dbSNP:rs121912670Ensembl.1
Multiple pterygium syndrome, Escobar variant (EVMPS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionNon-lethal form of arthrogryposis multiplex congenita. It is an autosomal recessive condition characterized by excessive webbing (pterygia), congenital contractures (arthrogryposis), and scoliosis. Variable other features include intrauterine death, congenital respiratory distress, short stature, faciocranial dysmorphism, ptosis, low-set ears, arachnodactyly and cryptorchism in males. Congenital contractures are common and may be caused by reduced fetal movements at sensitive times of development. Possible causes of decreased fetal mobility include space constraints such as oligohydramnion, drugs, metabolic conditions or neuromuscular disorders including myasthenia gravis.
See also OMIM:265000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_030753107V → G in EVMPS and LMPS. 1 PublicationCorresponds to variant dbSNP:rs267606726Ensembl.1
Natural variantiVAR_030755239R → C in EVMPS and LMPS. 1 PublicationCorresponds to variant dbSNP:rs121912670Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi1146.
MalaCardsiCHRNG.
MIMi253290. phenotype.
265000. phenotype.
OpenTargetsiENSG00000196811.
Orphaneti2990. Autosomal recessive multiple pterygium syndrome.
33108. Lethal multiple pterygium syndrome.
PharmGKBiPA26499.

Chemistry databases

ChEMBLiCHEMBL1907588.
DrugBankiDB00674. Galantamine.

Polymorphism and mutation databases

BioMutaiCHRNG.
DMDMi126302510.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 22Sequence analysisAdd BLAST22
ChainiPRO_000000033423 – 517Acetylcholine receptor subunit gammaAdd BLAST495

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi52N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi150 ↔ 164By similarity
Glycosylationi163N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiP07510.
PeptideAtlasiP07510.
PRIDEiP07510.

PTM databases

iPTMnetiP07510.
PhosphoSitePlusiP07510.

Expressioni

Gene expression databases

BgeeiENSG00000196811.
CleanExiHS_CHRNG.
GenevisibleiP07510. HS.

Interactioni

Subunit structurei

Pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains.

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi107568. 8 interactors.
IntActiP07510. 16 interactors.
STRINGi9606.ENSP00000374145.

Chemistry databases

BindingDBiP07510.

Structurei

3D structure databases

ProteinModelPortaliP07510.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3645. Eukaryota.
ENOG410XQGR. LUCA.
GeneTreeiENSGT00760000118930.
HOGENOMiHOG000006757.
HOVERGENiHBG003756.
InParanoidiP07510.
KOiK04818.
OMAiEEWFLVG.
OrthoDBiEOG091G0R20.
PhylomeDBiP07510.
TreeFamiTF315605.

Family and domain databases

Gene3Di2.70.170.10. 1 hit.
InterProiView protein in InterPro
IPR006202. Neur_chan_lig-bd.
IPR006201. Neur_channel.
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.
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: P07510-1) [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
MHGGQGPLLL LLLLAVCLGA QGRNQEERLL ADLMQNYDPN LRPAERDSDV
60 70 80 90 100
VNVSLKLTLT NLISLNEREE ALTTNVWIEM QWCDYRLRWD PRDYEGLWVL
110 120 130 140 150
RVPSTMVWRP DIVLENNVDG VFEVALYCNV LVSPDGCIYW LPPAIFRSAC
160 170 180 190 200
SISVTYFPFD WQNCSLIFQS QTYSTNEIDL QLSQEDGQTI EWIFIDPEAF
210 220 230 240 250
TENGEWAIQH RPAKMLLDPA APAQEAGHQK VVFYLLIQRK PLFYVINIIA
260 270 280 290 300
PCVLISSVAI LIHFLPAKAG GQKCTVAINV LLAQTVFLFL VAKKVPETSQ
310 320 330 340 350
AVPLISKYLT FLLVVTILIV VNAVVVLNVS LRSPHTHSMA RGVRKVFLRL
360 370 380 390 400
LPQLLRMHVR PLAPAAVQDT QSRLQNGSSG WSITTGEEVA LCLPRSELLF
410 420 430 440 450
QQWQRQGLVA AALEKLEKGP ELGLSQFCGS LKQAAPAIQA CVEACNLIAC
460 470 480 490 500
ARHQQSHFDN GNEEWFLVGR VLDRVCFLAM LSLFICGTAG IFLMAHYNRV
510
PALPFPGDPR PYLPSPD
Length:517
Mass (Da):57,883
Last modified:February 20, 2007 - v2
Checksum:i7C78F533D4997D7A
GO
Isoform 2 (identifier: P07510-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     117-169: NVDGVFEVALYCNVLVSPDGCIYWLPPAIFRSACSISVTYFPFDWQNCSLIFQ → K

Note: No experimental confirmation available.
Show »
Length:465
Mass (Da):52,020
Checksum:i6EB30D70535EFAE3
GO

Sequence cautioni

The sequence AAY24103 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAA25861 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti189T → S in AAI11803 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_030753107V → G in EVMPS and LMPS. 1 PublicationCorresponds to variant dbSNP:rs267606726Ensembl.1
Natural variantiVAR_030754149A → T. Corresponds to variant dbSNP:rs2289080Ensembl.1
Natural variantiVAR_030755239R → C in EVMPS and LMPS. 1 PublicationCorresponds to variant dbSNP:rs121912670Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_055775117 – 169NVDGV…SLIFQ → K in isoform 2. 1 PublicationAdd BLAST53

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X01715
, X01716, X01717, X01718, X01719, X01720, X01721, X04759 Genomic DNA. Translation: CAA25861.1. Sequence problems.
AK125362 mRNA. Translation: BAG54190.1.
AC092165 Genomic DNA. Translation: AAY24103.1. Sequence problems.
BC111802 mRNA. Translation: AAI11803.1.
CCDSiCCDS33400.1. [P07510-1]
PIRiA23261.
RefSeqiNP_005190.4. NM_005199.4. [P07510-1]
UniGeneiHs.248101.

Genome annotation databases

EnsembliENST00000389492; ENSP00000374143; ENSG00000196811. [P07510-2]
ENST00000389494; ENSP00000374145; ENSG00000196811. [P07510-1]
GeneIDi1146.
KEGGihsa:1146.
UCSCiuc002vsx.1. human. [P07510-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiACHG_HUMAN
AccessioniPrimary (citable) accession number: P07510
Secondary accession number(s): B3KWM8, Q14DU4, Q53RG2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1988
Last sequence update: February 20, 2007
Last modified: August 30, 2017
This is version 173 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: 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. SIMILARITY comments
    Index of protein domains and families