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Reviewed, UniProtKB/Swiss-Prot P07510 (ACHG_HUMAN)

Last modified November 3, 2009. Version 95. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Acetylcholine receptor subunit gamma
Gene names
Name: CHRNG
Synonyms: ACHRG
OrganismHomo sapiens (Human) [Complete 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

Defects in CHRNG are a cause of lethal type multiple pterygium syndrome [MIM:253290]. Multiple pterygia are found infrequently in children with arthrogryposis and in fetuses with fetal akinesia syndrome. Inheritance can be autosomal dominant, autosomal recessive, or X linked, but autosomal recessive inheritance appears to be most common. Clinical expression is very variable, and, in the severest form, lethal multiple pterygium syndrome there is intrauterine growth retardation, multiple pterygia (e.g., chin to sternum, cervical, axillary, humero-ulnar, crural, popliteal, and ankles), 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-in particular, cleft palate-are frequent.

Defects in CHRNG are a cause of Escobar syndrome [MIM:265000]; also known as Escobar variant of multiple pterygium syndrome or nonlethal type multiple pterygium syndrome. Escobar syndrome is a nonlethal 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.

Sequence similarities

Belongs to the ligand-gated ionic channel (TC 1.A.9) family. [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.

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 – 26525 Potential
Transmembrane275 – 29319 Potential
Transmembrane309 – 33022 Potential
Topological domain331 – 474144Cytoplasmic Potential
Transmembrane475 – 49521 Potential

Amino acid modifications

Modified residue2851Phosphothreonine Ref.5
Glycosylation521N-linked (GlcNAc...) Potential
Glycosylation1631N-linked (GlcNAc...) Potential
Disulfide bond150 ↔ 164 By similarity

Natural variations

Natural variant1071V → G in Escobar syndrome and multiple pterygium syndrome; lethal type. Ref.7
VAR_030753
Natural variant1491A → T: dbSNP rs2289080.
VAR_030754
Natural variant2391R → C in Escobar syndrome and multiple pterygium syndrome; lethal type. Ref.6
VAR_030755

Sequences

Sequence LengthMass (Da)Tools
P07510-1 [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: 3967651] [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: 7688301] [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: 14702039] [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: 15815621] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"Automated phosphoproteome analysis for cultured cancer cells by two-dimensional nanoLC-MS using a calcined titania/C18 biphasic column."
Imami K., Sugiyama N., Kyono Y., Tomita M., Ishihama Y.
Anal. Sci. 24:161-166(2008) [PubMed: 18187866] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-285, MASS SPECTROMETRY.
[6]"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: 16826520] [Abstract]
Cited for: VARIANT ESCOBAR SYNDROME/MULTIPLE PTERYGIUM SYNDROME 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: 16826531] [Abstract]
Cited for: VARIANT ESCOBAR SYNDROME/MULTIPLE PTERYGIUM SYNDROME GLY-107.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

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.
IPIIPI00746413.
PIRA23261.
RefSeqNP_005190.4.
UniGeneHs.248101

3D structure databases

ModBaseSearch...

Protein-protein interaction databases

STRINGP07510.

PTM databases

PhosphoSiteP07510.

Proteomic databases

PRIDEP07510.

Genome annotation databases

EnsemblENST00000389492; ENSP00000374143; ENSG00000196811; Homo sapiens. [Genome view]
ENST00000389494; ENSP00000374145; ENSG00000196811; Homo sapiens. [Genome view]
GeneID1146.
KEGGhsa:1146.
UCSCuc002vsx.1. human.

Organism-specific databases

CTD1146.
GeneCardsGC02P233112.
HGNCHGNC:1967. CHRNG.
MIM100730. gene.
253290. phenotype.
265000. phenotype.
Orphanet2990. Autosomal recessive multiple pterygium syndrome.
79449. Escobar syndrome.
33108. Multiple pterygium syndrome, lethal form.
PharmGKBPA26499.
GenAtlasSearch...

Phylogenomic databases

HOVERGENP07510.
OMAPQLLRMH.

Gene expression databases

ArrayExpressP07510.
BgeeP07510.
CleanExHS_CHRNG.
GenevestigatorP07510.
GermOnlineENSG00000196811. Homo sapiens.

Family and domain databases

InterProIPR006029. Neu_channel_TM.
IPR006202. Neur_chan_lig_bd.
IPR006201. Neur_channel.
IPR018000. Neurotransmitter_ion_chnl_CS.
IPR002394. Nicotinic_acetylcholine_rcpt_N.
[Graphical view]
Gene3DG3DSA:2.70.170.10. Neur_chan_lig_bd. 1 hit.
PANTHERPTHR18945. Neur_channel. 1 hit.
PfamPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view]
PRINTSPR00254. NICOTINICR.
PR00252. NRIONCHANNEL.
PROSITEPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio4768.
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: November 3, 2009
This is version 95 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)
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

Human chromosome 2

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

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents