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P07510

- ACHG_HUMAN

UniProt

P07510 - ACHG_HUMAN

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Protein

Acetylcholine receptor subunit gamma

Gene
CHRNG, ACHRG
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: Ensembl
  2. acetylcholine receptor activity Source: ProtInc
  3. channel activity Source: ProtInc

GO - Biological processi

  1. muscle contraction Source: ProtInc
  2. regulation of membrane potential Source: Ensembl
  3. signal transduction Source: ProtInc
  4. synaptic transmission Source: Reactome
  5. transmembrane transport Source: GOC
  6. transport Source: ProtInc
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.

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
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:1967. CHRNG.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini23 – 240218Extracellular Reviewed predictionAdd
BLAST
Transmembranei241 – 26525Helical; Reviewed predictionAdd
BLAST
Transmembranei275 – 29319Helical; Reviewed predictionAdd
BLAST
Transmembranei309 – 33022Helical; Reviewed predictionAdd
BLAST
Topological domaini331 – 474144Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei475 – 49521Helical; Reviewed predictionAdd
BLAST

GO - Cellular componenti

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

Keywords - Cellular componenti

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

Pathology & Biotechi

Involvement in diseasei

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.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti107 – 1071V → G in EVMPS and LMPS. 1 Publication
VAR_030753
Natural varianti239 – 2391R → C in EVMPS and LMPS. 1 Publication
VAR_030755
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.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti107 – 1071V → G in EVMPS and LMPS. 1 Publication
VAR_030753
Natural varianti239 – 2391R → C in EVMPS and LMPS. 1 Publication
VAR_030755

Keywords - Diseasei

Disease mutation

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2222 Reviewed predictionAdd
BLAST
Chaini23 – 517495Acetylcholine receptor subunit gammaPRO_0000000334Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi52 – 521N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi150 ↔ 164 By similarity
Glycosylationi163 – 1631N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiP07510.
PRIDEiP07510.

PTM databases

PhosphoSiteiP07510.

Expressioni

Gene expression databases

ArrayExpressiP07510.
BgeeiP07510.
CleanExiHS_CHRNG.
GenevestigatoriP07510.

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.

Protein-protein interaction databases

BioGridi107568. 1 interaction.
STRINGi9606.ENSP00000374145.

Structurei

3D structure databases

ProteinModelPortaliP07510.
SMRiP07510. Positions 24-338, 436-501.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG291810.
HOGENOMiHOG000006757.
HOVERGENiHBG003756.
InParanoidiP07510.
KOiK04818.
OMAiVFYLLIQ.
OrthoDBiEOG7H7925.
PhylomeDBiP07510.
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.
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: 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

MHGGQGPLLL LLLLAVCLGA QGRNQEERLL ADLMQNYDPN LRPAERDSDV    50
VNVSLKLTLT NLISLNEREE ALTTNVWIEM QWCDYRLRWD PRDYEGLWVL 100
RVPSTMVWRP DIVLENNVDG VFEVALYCNV LVSPDGCIYW LPPAIFRSAC 150
SISVTYFPFD WQNCSLIFQS QTYSTNEIDL QLSQEDGQTI EWIFIDPEAF 200
TENGEWAIQH RPAKMLLDPA APAQEAGHQK VVFYLLIQRK PLFYVINIIA 250
PCVLISSVAI LIHFLPAKAG GQKCTVAINV LLAQTVFLFL VAKKVPETSQ 300
AVPLISKYLT FLLVVTILIV VNAVVVLNVS LRSPHTHSMA RGVRKVFLRL 350
LPQLLRMHVR PLAPAAVQDT QSRLQNGSSG WSITTGEEVA LCLPRSELLF 400
QQWQRQGLVA AALEKLEKGP ELGLSQFCGS LKQAAPAIQA CVEACNLIAC 450
ARHQQSHFDN GNEEWFLVGR VLDRVCFLAM LSLFICGTAG IFLMAHYNRV 500
PALPFPGDPR PYLPSPD 517
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 AAY24103.1 differs from that shown. Reason: Erroneous gene model prediction.
The sequence CAA25861.1 differs from that shown. Reason: Erroneous gene model prediction.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti107 – 1071V → G in EVMPS and LMPS. 1 Publication
VAR_030753
Natural varianti149 – 1491A → T.
Corresponds to variant rs2289080 [ dbSNP | Ensembl ].
VAR_030754
Natural varianti239 – 2391R → C in EVMPS and LMPS. 1 Publication
VAR_030755

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei117 – 16953NVDGV…SLIFQ → K in isoform 2. VSP_055775Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti189 – 1891T → S in AAI11803. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
PIRiA23261.
RefSeqiNP_005190.4. NM_005199.4.
UniGeneiHs.248101.

Genome annotation databases

EnsembliENST00000389494; ENSP00000374145; ENSG00000196811.
GeneIDi1146.
KEGGihsa:1146.
UCSCiuc002vsx.1. human.

Polymorphism databases

DMDMi126302510.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
PIRi A23261.
RefSeqi NP_005190.4. NM_005199.4.
UniGenei Hs.248101.

3D structure databases

ProteinModelPortali P07510.
SMRi P07510. Positions 24-338, 436-501.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107568. 1 interaction.
STRINGi 9606.ENSP00000374145.

Chemistry

BindingDBi P07510.
ChEMBLi CHEMBL1907588.
GuidetoPHARMACOLOGYi 475.

Protein family/group databases

TCDBi 1.A.9.1.1. the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family.

PTM databases

PhosphoSitei P07510.

Polymorphism databases

DMDMi 126302510.

Proteomic databases

PaxDbi P07510.
PRIDEi P07510.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000389494 ; ENSP00000374145 ; ENSG00000196811 .
GeneIDi 1146.
KEGGi hsa:1146.
UCSCi uc002vsx.1. human.

Organism-specific databases

CTDi 1146.
GeneCardsi GC02P233404.
HGNCi HGNC:1967. CHRNG.
MIMi 100730. gene.
253290. phenotype.
265000. phenotype.
neXtProti NX_P07510.
Orphaneti 2990. Autosomal recessive multiple pterygium syndrome.
33108. Lethal multiple pterygium syndrome.
PharmGKBi PA26499.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG291810.
HOGENOMi HOG000006757.
HOVERGENi HBG003756.
InParanoidi P07510.
KOi K04818.
OMAi VFYLLIQ.
OrthoDBi EOG7H7925.
PhylomeDBi P07510.
TreeFami TF315605.

Enzyme and pathway databases

Reactomei REACT_22223. Highly sodium permeable acetylcholine nicotinic receptors.

Miscellaneous databases

GeneWikii CHRNG.
GenomeRNAii 1146.
NextBioi 4768.
PROi P07510.
SOURCEi Search...

Gene expression databases

ArrayExpressi P07510.
Bgeei P07510.
CleanExi HS_CHRNG.
Genevestigatori P07510.

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

Publicationsi

« Hide 'large scale' publications
  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] (ISOFORM 1).
    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.
    , 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] (ISOFORM 1).
    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.
    , 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. "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 2).
  6. Cited for: VARIANT EVMPS CYS-239, VARIANT LMPS CYS-239.
  7. "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.

Entry informationi

Entry nameiACHG_HUMAN
AccessioniPrimary (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: September 3, 2014
This is version 144 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

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

External Data

Dasty 3

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