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P07510 (ACHG_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 140. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Acetylcholine receptor subunit gamma
Gene names
Name:CHRNG
Synonyms:ACHRG
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length517 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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

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

Subcellular location

Cell junctionsynapsepostsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Involvement in disease

Multiple pterygium syndrome, lethal type (LMPS) [MIM:253290]: Multiple 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5 Ref.6

Multiple pterygium syndrome, Escobar variant (EVMPS) [MIM:265000]: Non-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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5 Ref.6

Sequence similarities

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]

Sequence caution

The sequence AAY24103.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence CAA25861.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
   Biological processIon transport
Transport
   Cellular componentCell junction
Cell membrane
Membrane
Postsynaptic cell membrane
Synapse
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
   DomainSignal
Transmembrane
Transmembrane helix
   Molecular functionIon channel
Ligand-gated ion channel
Receptor
   PTMDisulfide bond
Glycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processmuscle contraction

Traceable author statement PubMed 8040310. Source: ProtInc

regulation of membrane potential

Inferred from electronic annotation. Source: Ensembl

signal transduction

Traceable author statement Ref.1. Source: ProtInc

synaptic transmission

Traceable author statement. Source: Reactome

transmembrane transport

Traceable author statement Ref.1. Source: GOC

transport

Traceable author statement Ref.1. Source: ProtInc

   Cellular_componentacetylcholine-gated channel complex

Inferred from electronic annotation. Source: Ensembl

cell junction

Inferred from electronic annotation. Source: UniProtKB-KW

integral component of plasma membrane

Traceable author statement Ref.1. Source: ProtInc

plasma membrane

Traceable author statement. Source: Reactome

postsynaptic membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionacetylcholine receptor activity

Traceable author statement Ref.1. Source: ProtInc

acetylcholine-activated cation-selective channel activity

Inferred from electronic annotation. Source: Ensembl

channel activity

Traceable author statement Ref.1. Source: ProtInc

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2222 Potential
Chain23 – 517495Acetylcholine receptor subunit gamma
PRO_0000000334

Regions

Topological domain23 – 240218Extracellular Potential
Transmembrane241 – 26525Helical; Potential
Transmembrane275 – 29319Helical; Potential
Transmembrane309 – 33022Helical; Potential
Topological domain331 – 474144Cytoplasmic Potential
Transmembrane475 – 49521Helical; Potential

Amino acid modifications

Glycosylation521N-linked (GlcNAc...) Potential
Glycosylation1631N-linked (GlcNAc...) Potential
Disulfide bond150 ↔ 164 By similarity

Natural variations

Natural variant1071V → G in EVMPS and LMPS. Ref.6
VAR_030753
Natural variant1491A → T.
Corresponds to variant rs2289080 [ dbSNP | Ensembl ].
VAR_030754
Natural variant2391R → C in EVMPS and LMPS. Ref.5
VAR_030755

Sequences

Sequence LengthMass (Da)Tools
P07510 [UniParc].

Last modified February 20, 2007. Version 2.
Checksum: 7C78F533D4997D7A

FASTA51757,883
        10         20         30         40         50         60 
MHGGQGPLLL LLLLAVCLGA QGRNQEERLL ADLMQNYDPN LRPAERDSDV VNVSLKLTLT 

        70         80         90        100        110        120 
NLISLNEREE ALTTNVWIEM QWCDYRLRWD PRDYEGLWVL RVPSTMVWRP DIVLENNVDG 

       130        140        150        160        170        180 
VFEVALYCNV LVSPDGCIYW LPPAIFRSAC SISVTYFPFD WQNCSLIFQS QTYSTNEIDL 

       190        200        210        220        230        240 
QLSQEDGQTI EWIFIDPEAF TENGEWAIQH RPAKMLLDPA APAQEAGHQK VVFYLLIQRK 

       250        260        270        280        290        300 
PLFYVINIIA PCVLISSVAI LIHFLPAKAG GQKCTVAINV LLAQTVFLFL VAKKVPETSQ 

       310        320        330        340        350        360 
AVPLISKYLT FLLVVTILIV VNAVVVLNVS LRSPHTHSMA RGVRKVFLRL LPQLLRMHVR 

       370        380        390        400        410        420 
PLAPAAVQDT QSRLQNGSSG WSITTGEEVA LCLPRSELLF QQWQRQGLVA AALEKLEKGP 

       430        440        450        460        470        480 
ELGLSQFCGS LKQAAPAIQA CVEACNLIAC ARHQQSHFDN GNEEWFLVGR VLDRVCFLAM 

       490        500        510 
LSLFICGTAG IFLMAHYNRV PALPFPGDPR PYLPSPD 

« Hide

References

« Hide 'large scale' references
[1]"Cloning and sequence analysis of human genomic DNA encoding gamma subunit precursor of muscle acetylcholine receptor."
Shibahara S., Kubo T., Perski H.J., Takahashi H., Noda M., Numa S.
Eur. J. Biochem. 146:15-22(1985) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]"Primary structure of the human muscle acetylcholine receptor. cDNA cloning of the gamma and epsilon subunits."
Beeson D.M.W., Brydson M., Betty M., Jeremiah S., Povey S., Vincent A., Newsom-Davis J.
Eur. J. Biochem. 215:229-238(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Muscle fibroblast.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Tongue.
[4]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit."
Hoffmann K., Mueller J.S., Stricker S., Megarbane A., Rajab A., Lindner T.H., Cohen M., Chouery E., Adaimy L., Ghanem I., Delague V., Boltshauser E., Talim B., Horvath R., Robinson P.N., Lochmueller H., Huebner C., Mundlos S.
Am. J. Hum. Genet. 79:303-312(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT EVMPS CYS-239, VARIANT LMPS CYS-239.
[6]"Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome."
Morgan N.V., Brueton L.A., Cox P., Greally M.T., Tolmie J., Pasha S., Aligianis I.A., van Bokhoven H., Marton T., Al-Gazali L., Morton J.E.V., Oley C., Johnson C.A., Trembath R.C., Brunner H.G., Maher E.R.
Am. J. Hum. Genet. 79:390-395(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT EVMPS GLY-107, VARIANT LMPS GLY-107.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X01715 expand/collapse EMBL AC list , 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.
PIRA23261.
RefSeqNP_005190.4. NM_005199.4.
UniGeneHs.248101.

3D structure databases

ProteinModelPortalP07510.
SMRP07510. Positions 24-502.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107568. 1 interaction.
STRING9606.ENSP00000374145.

Chemistry

BindingDBP07510.
ChEMBLCHEMBL1907588.

Protein family/group databases

TCDB1.A.9.1.1. the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family.

PTM databases

PhosphoSiteP07510.

Polymorphism databases

DMDM126302510.

Proteomic databases

PaxDbP07510.
PRIDEP07510.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000389494; ENSP00000374145; ENSG00000196811.
GeneID1146.
KEGGhsa:1146.
UCSCuc002vsx.1. human.

Organism-specific databases

CTD1146.
GeneCardsGC02P233404.
HGNCHGNC:1967. CHRNG.
MIM100730. gene.
253290. phenotype.
265000. phenotype.
neXtProtNX_P07510.
Orphanet2990. Autosomal recessive multiple pterygium syndrome.
33108. Lethal multiple pterygium syndrome.
PharmGKBPA26499.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG291810.
HOGENOMHOG000006757.
HOVERGENHBG003756.
InParanoidP07510.
KOK04818.
OMAVFYLLIQ.
OrthoDBEOG7H7925.
PhylomeDBP07510.
TreeFamTF315605.

Enzyme and pathway databases

ReactomeREACT_13685. Neuronal System.

Gene expression databases

ArrayExpressP07510.
BgeeP07510.
CleanExHS_CHRNG.
GenevestigatorP07510.

Family and domain databases

Gene3D1.20.120.370. 2 hits.
2.70.170.10. 1 hit.
InterProIPR027361. 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]
PANTHERPTHR18945. PTHR18945. 1 hit.
PfamPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view]
PRINTSPR00254. NICOTINICR.
PR00252. NRIONCHANNEL.
SUPFAMSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
PROSITEPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiCHRNG.
GenomeRNAi1146.
NextBio4768.
PROP07510.
SOURCESearch...

Entry information

Entry nameACHG_HUMAN
AccessionPrimary (citable) accession number: P07510
Secondary accession number(s): B3KWM8, Q53RG2
Entry history
Integrated into UniProtKB/Swiss-Prot: April 1, 1988
Last sequence update: February 20, 2007
Last modified: April 16, 2014
This is version 140 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM