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UniProtKB - P07510 (ACHG_HUMAN)

Protein

Acetylcholine receptor subunit gamma

Gene

CHRNG

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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000196811.11
HGNCiHGNC:1967 CHRNG
MIMi100730 gene
neXtProtiNX_P07510

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

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
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

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
ProteomicsDBi52012

PTM databases

iPTMnetiP07510
PhosphoSitePlusiP07510

Expressioni

Gene expression databases

BgeeiENSG00000196811 Expressed in 106 organ(s), highest expression level in gastrocnemius
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

Protein-protein interaction databases

BioGridi107568, 8 interactors
ComplexPortaliCPX-2179 Muscle-type nicotinic acetylcholine receptor complex, alpha1-beta1-delta-gamma
IntActiP07510, 17 interactors
STRINGi9606.ENSP00000374145

Chemistry databases

BindingDBiP07510

Structurei

3D structure databases

ProteinModelPortaliP07510
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Gamma/CHRNG sub-subfamily. [View classification]Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3645 Eukaryota
ENOG410XQGR LUCA
GeneTreeiENSGT00910000144023
HOGENOMiHOG000006757
HOVERGENiHBG003756
InParanoidiP07510
KOiK04818
OMAiCNLIARA
OrthoDBiEOG091G0R20
PhylomeDBiP07510
TreeFamiTF315605

Family and domain databases

Gene3Di2.70.170.10, 1 hit
InterProiView protein in InterPro
IPR006202 Neur_chan_lig-bd
IPR036734 Neur_chan_lig-bd_sf
IPR006201 Neur_channel
IPR036719 Neuro-gated_channel_TM_sf
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:rs267606726EnsemblClinVar.1
Natural variantiVAR_030754149A → T. Corresponds to variant dbSNP:rs2289080EnsemblClinVar.1
Natural variantiVAR_030755239R → C in EVMPS and LMPS. 1 PublicationCorresponds to variant dbSNP:rs121912670EnsemblClinVar.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

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
CCDSiCCDS33400.1 [P07510-1]
PIRiA23261
RefSeqiNP_005190.4, NM_005199.4 [P07510-1]
UniGeneiHs.248101

3D structure databases

ProteinModelPortaliP07510
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107568, 8 interactors
ComplexPortaliCPX-2179 Muscle-type nicotinic acetylcholine receptor complex, alpha1-beta1-delta-gamma
IntActiP07510, 17 interactors
STRINGi9606.ENSP00000374145

Chemistry databases

BindingDBiP07510
ChEMBLiCHEMBL1907588
DrugBankiDB00674 Galantamine

Protein family/group databases

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

PTM databases

iPTMnetiP07510
PhosphoSitePlusiP07510

Polymorphism and mutation databases

BioMutaiCHRNG
DMDMi126302510

Proteomic databases

PaxDbiP07510
PeptideAtlasiP07510
PRIDEiP07510
ProteomicsDBi52012

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi1146
DisGeNETi1146
EuPathDBiHostDB:ENSG00000196811.11
GeneCardsiCHRNG
HGNCiHGNC:1967 CHRNG
MalaCardsiCHRNG
MIMi100730 gene
253290 phenotype
265000 phenotype
neXtProtiNX_P07510
OpenTargetsiENSG00000196811
Orphaneti2990 Autosomal recessive multiple pterygium syndrome
33108 Lethal multiple pterygium syndrome
PharmGKBiPA26499
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3645 Eukaryota
ENOG410XQGR LUCA
GeneTreeiENSGT00910000144023
HOGENOMiHOG000006757
HOVERGENiHBG003756
InParanoidiP07510
KOiK04818
OMAiCNLIARA
OrthoDBiEOG091G0R20
PhylomeDBiP07510
TreeFamiTF315605

Enzyme and pathway databases

ReactomeiR-HSA-629587 Highly sodium permeable acetylcholine nicotinic receptors

Miscellaneous databases

GeneWikiiCHRNG
GenomeRNAii1146
PROiPR:P07510
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000196811 Expressed in 106 organ(s), highest expression level in gastrocnemius
CleanExiHS_CHRNG
GenevisibleiP07510 HS

Family and domain databases

Gene3Di2.70.170.10, 1 hit
InterProiView protein in InterPro
IPR006202 Neur_chan_lig-bd
IPR036734 Neur_chan_lig-bd_sf
IPR006201 Neur_channel
IPR036719 Neuro-gated_channel_TM_sf
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
ProtoNetiSearch...

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: November 7, 2018
This is version 181 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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