UniProtKB - P07510 (ACHG_HUMAN)
Acetylcholine receptor subunit gamma
CHRNG
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
- neurotransmitter receptor activity Source: GO_Central
GO - Biological processi
- acetylcholine receptor signaling pathway Source: ComplexPortal
- chemical synaptic transmission Source: GO_Central
- ion transmembrane transport Source: GO_Central
- muscle contraction Source: ProtInc
- nervous system process Source: GO_Central
- regulation of membrane potential Source: GO_Central
- signal transduction Source: GO_Central
Keywordsi
Molecular function | Ion channel, Ligand-gated ion channel, Receptor |
Biological process | Ion transport, Transport |
Enzyme and pathway databases
PathwayCommonsi | P07510 |
Reactomei | R-HSA-629587, Highly sodium permeable postsynaptic acetylcholine nicotinic receptors |
SignaLinki | P07510 |
Protein family/group databases
TCDBi | 1.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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:1967, CHRNG |
MIMi | 100730, gene |
neXtProti | NX_P07510 |
VEuPathDBi | HostDB:ENSG00000196811 |
Subcellular locationi
Plasma Membrane
- acetylcholine-gated channel complex Source: ComplexPortal
- integral component of plasma membrane Source: GO_Central
- plasma membrane Source: Reactome
- postsynaptic membrane Source: UniProtKB-SubCell
Other locations
- neuron projection Source: GO_Central
- synapse Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 23 – 240 | ExtracellularSequence analysisAdd BLAST | 218 | |
Transmembranei | 241 – 265 | HelicalSequence analysisAdd BLAST | 25 | |
Transmembranei | 275 – 293 | HelicalSequence analysisAdd BLAST | 19 | |
Transmembranei | 309 – 330 | HelicalSequence analysisAdd BLAST | 22 | |
Topological domaini | 331 – 474 | CytoplasmicSequence analysisAdd BLAST | 144 | |
Transmembranei | 475 – 495 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Cell junction, Cell membrane, Membrane, Postsynaptic cell membrane, SynapsePathology & Biotechi
Involvement in diseasei
Multiple pterygium syndrome, lethal type (LMPS)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_030753 | 107 | V → G in EVMPS and LMPS. 1 PublicationCorresponds to variant dbSNP:rs267606726EnsemblClinVar. | 1 | |
Natural variantiVAR_030755 | 239 | R → C in EVMPS and LMPS. 1 PublicationCorresponds to variant dbSNP:rs121912670EnsemblClinVar. | 1 |
Multiple pterygium syndrome, Escobar variant (EVMPS)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_030753 | 107 | V → G in EVMPS and LMPS. 1 PublicationCorresponds to variant dbSNP:rs267606726EnsemblClinVar. | 1 | |
Natural variantiVAR_030755 | 239 | R → C in EVMPS and LMPS. 1 PublicationCorresponds to variant dbSNP:rs121912670EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 1146 |
MalaCardsi | CHRNG |
MIMi | 253290, phenotype 265000, phenotype |
OpenTargetsi | ENSG00000196811 |
Orphaneti | 2990, Autosomal recessive multiple pterygium syndrome 33108, Lethal multiple pterygium syndrome |
PharmGKBi | PA26499 |
Miscellaneous databases
Pharosi | P07510, Tclin |
Chemistry databases
ChEMBLi | CHEMBL1907588 |
DrugCentrali | P07510 |
Genetic variation databases
BioMutai | CHRNG |
DMDMi | 126302510 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 22 | Sequence analysisAdd BLAST | 22 | |
ChainiPRO_0000000334 | 23 – 517 | Acetylcholine receptor subunit gammaAdd BLAST | 495 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 52 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 150 ↔ 164 | By similarity | ||
Glycosylationi | 163 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
jPOSTi | P07510 |
PaxDbi | P07510 |
PeptideAtlasi | P07510 |
PRIDEi | P07510 |
ProteomicsDBi | 52012 [P07510-1] |
PTM databases
GlyGeni | P07510, 2 sites |
iPTMneti | P07510 |
PhosphoSitePlusi | P07510 |
Expressioni
Gene expression databases
Bgeei | ENSG00000196811, Expressed in colon and 118 other tissues |
Genevisiblei | P07510, HS |
Organism-specific databases
HPAi | ENSG00000196811, Tissue enriched (skeletal) |
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
P07510
Isoform 2 [P07510-2]
Protein-protein interaction databases
BioGRIDi | 107568, 22 interactors |
ComplexPortali | CPX-2179, Muscle-type nicotinic acetylcholine receptor complex, alpha1-beta1-delta-gamma |
IntActi | P07510, 21 interactors |
STRINGi | 9606.ENSP00000374145 |
Chemistry databases
BindingDBi | P07510 |
Miscellaneous databases
RNActi | P07510, protein |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3645, Eukaryota |
GeneTreei | ENSGT00940000160041 |
HOGENOMi | CLU_018074_1_4_1 |
InParanoidi | P07510 |
OMAi | CVDACNL |
OrthoDBi | 588360at2759 |
PhylomeDBi | P07510 |
TreeFami | TF315605 |
Family and domain databases
Gene3Di | 1.20.58.390, 2 hits 2.70.170.10, 1 hit |
InterProi | View protein in InterPro IPR006202, Neur_chan_lig-bd IPR036734, Neur_chan_lig-bd_sf IPR006201, Neur_channel IPR036719, Neuro-gated_channel_TM_sf IPR038050, Neuro_actylchol_rec IPR006029, Neurotrans-gated_channel_TM IPR018000, Neurotransmitter_ion_chnl_CS IPR002394, Nicotinic_acetylcholine_rcpt |
PANTHERi | PTHR18945, PTHR18945, 1 hit |
Pfami | View protein in Pfam PF02931, Neur_chan_LBD, 1 hit PF02932, Neur_chan_memb, 1 hit |
PRINTSi | PR00254, NICOTINICR PR00252, NRIONCHANNEL |
SUPFAMi | SSF63712, SSF63712, 1 hit SSF90112, SSF90112, 1 hit |
PROSITEi | View protein in PROSITE PS00236, NEUROTR_ION_CHANNEL, 1 hit |
s (2)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 189 | T → S in AAI11803 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_030753 | 107 | V → G in EVMPS and LMPS. 1 PublicationCorresponds to variant dbSNP:rs267606726EnsemblClinVar. | 1 | |
Natural variantiVAR_030754 | 149 | A → T. Corresponds to variant dbSNP:rs2289080EnsemblClinVar. | 1 | |
Natural variantiVAR_030755 | 239 | R → C in EVMPS and LMPS. 1 PublicationCorresponds to variant dbSNP:rs121912670EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_055775 | 117 – 169 | NVDGV…SLIFQ → K in isoform 2. 1 PublicationAdd BLAST | 53 |
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 |
CCDSi | CCDS33400.1 [P07510-1] |
PIRi | A23261 |
RefSeqi | NP_005190.4, NM_005199.4 [P07510-1] |
Genome annotation databases
Ensembli | ENST00000389492.3; ENSP00000374143.3; ENSG00000196811.13 [P07510-2] ENST00000651502.1; ENSP00000498757.1; ENSG00000196811.13 |
GeneIDi | 1146 |
KEGGi | hsa:1146 |
MANE-Selecti | ENST00000651502.1; ENSP00000498757.1; NM_005199.5; NP_005190.4 |
UCSCi | uc002vsx.1, human [P07510-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
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 |
CCDSi | CCDS33400.1 [P07510-1] |
PIRi | A23261 |
RefSeqi | NP_005190.4, NM_005199.4 [P07510-1] |
3D structure databases
AlphaFoldDBi | P07510 |
SMRi | P07510 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 107568, 22 interactors |
ComplexPortali | CPX-2179, Muscle-type nicotinic acetylcholine receptor complex, alpha1-beta1-delta-gamma |
IntActi | P07510, 21 interactors |
STRINGi | 9606.ENSP00000374145 |
Chemistry databases
BindingDBi | P07510 |
ChEMBLi | CHEMBL1907588 |
DrugCentrali | P07510 |
Protein family/group databases
TCDBi | 1.A.9.1.1, the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family |
PTM databases
GlyGeni | P07510, 2 sites |
iPTMneti | P07510 |
PhosphoSitePlusi | P07510 |
Genetic variation databases
BioMutai | CHRNG |
DMDMi | 126302510 |
Proteomic databases
jPOSTi | P07510 |
PaxDbi | P07510 |
PeptideAtlasi | P07510 |
PRIDEi | P07510 |
ProteomicsDBi | 52012 [P07510-1] |
Protocols and materials databases
ABCDi | P07510, 2 sequenced antibodies |
Antibodypediai | 20220, 138 antibodies from 26 providers |
DNASUi | 1146 |
Genome annotation databases
Ensembli | ENST00000389492.3; ENSP00000374143.3; ENSG00000196811.13 [P07510-2] ENST00000651502.1; ENSP00000498757.1; ENSG00000196811.13 |
GeneIDi | 1146 |
KEGGi | hsa:1146 |
MANE-Selecti | ENST00000651502.1; ENSP00000498757.1; NM_005199.5; NP_005190.4 |
UCSCi | uc002vsx.1, human [P07510-1] |
Organism-specific databases
CTDi | 1146 |
DisGeNETi | 1146 |
GeneCardsi | CHRNG |
HGNCi | HGNC:1967, CHRNG |
HPAi | ENSG00000196811, Tissue enriched (skeletal) |
MalaCardsi | CHRNG |
MIMi | 100730, gene 253290, phenotype 265000, phenotype |
neXtProti | NX_P07510 |
OpenTargetsi | ENSG00000196811 |
Orphaneti | 2990, Autosomal recessive multiple pterygium syndrome 33108, Lethal multiple pterygium syndrome |
PharmGKBi | PA26499 |
VEuPathDBi | HostDB:ENSG00000196811 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3645, Eukaryota |
GeneTreei | ENSGT00940000160041 |
HOGENOMi | CLU_018074_1_4_1 |
InParanoidi | P07510 |
OMAi | CVDACNL |
OrthoDBi | 588360at2759 |
PhylomeDBi | P07510 |
TreeFami | TF315605 |
Enzyme and pathway databases
PathwayCommonsi | P07510 |
Reactomei | R-HSA-629587, Highly sodium permeable postsynaptic acetylcholine nicotinic receptors |
SignaLinki | P07510 |
Miscellaneous databases
BioGRID-ORCSi | 1146, 23 hits in 1069 CRISPR screens |
GeneWikii | CHRNG |
GenomeRNAii | 1146 |
Pharosi | P07510, Tclin |
PROi | PR:P07510 |
RNActi | P07510, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000196811, Expressed in colon and 118 other tissues |
Genevisiblei | P07510, HS |
Family and domain databases
Gene3Di | 1.20.58.390, 2 hits 2.70.170.10, 1 hit |
InterProi | View protein in InterPro IPR006202, Neur_chan_lig-bd IPR036734, Neur_chan_lig-bd_sf IPR006201, Neur_channel IPR036719, Neuro-gated_channel_TM_sf IPR038050, Neuro_actylchol_rec IPR006029, Neurotrans-gated_channel_TM IPR018000, Neurotransmitter_ion_chnl_CS IPR002394, Nicotinic_acetylcholine_rcpt |
PANTHERi | PTHR18945, PTHR18945, 1 hit |
Pfami | View protein in Pfam PF02931, Neur_chan_LBD, 1 hit PF02932, Neur_chan_memb, 1 hit |
PRINTSi | PR00254, NICOTINICR PR00252, NRIONCHANNEL |
SUPFAMi | SSF63712, SSF63712, 1 hit SSF90112, SSF90112, 1 hit |
PROSITEi | View protein in PROSITE PS00236, NEUROTR_ION_CHANNEL, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | ACHG_HUMAN | |
Accessioni | P07510Primary (citable) accession number: P07510 Secondary accession number(s): B3KWM8, Q14DU4, Q53RG2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 1, 1988 |
Last sequence update: | February 20, 2007 | |
Last modified: | May 25, 2022 | |
This is version 204 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families