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UniProtKB - P07510 (ACHG_HUMAN)

Protein

Acetylcholine receptor subunit gamma

Gene

CHRNG

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionIon channel, Ligand-gated ion channel, Receptor
Biological processIon transport, Transport

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-629587 Highly sodium permeable acetylcholine nicotinic receptors

Protein family/group databases

Transport Classification Database

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

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Acetylcholine receptor subunit gamma
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CHRNG
Synonyms:ACHRG
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000196811.11

Human Gene Nomenclature Database

More...HGNCi		HGNC:1967 CHRNG

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		100730 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P07510

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini23 – 240ExtracellularSequence analysisAdd BLAST218
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_030753107V → G in EVMPS and LMPS. 1 PublicationCorresponds to variant dbSNP:rs267606726EnsemblClinVar.1
Natural variantiVAR_030755239R → C in EVMPS and LMPS. 1 PublicationCorresponds to variant dbSNP:rs121912670EnsemblClinVar.1
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
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_030753107V → G in EVMPS and LMPS. 1 PublicationCorresponds to variant dbSNP:rs267606726EnsemblClinVar.1
Natural variantiVAR_030755239R → C in EVMPS and LMPS. 1 PublicationCorresponds to variant dbSNP:rs121912670EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		1146

MalaCards human disease database

More...MalaCardsi		CHRNG
MIMi253290 phenotype
265000 phenotype

Open Targets

More...OpenTargetsi		ENSG00000196811

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		2990 Autosomal recessive multiple pterygium syndrome
33108 Lethal multiple pterygium syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA26499

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL1907588

Drug and drug target database

More...DrugBanki		DB00674 Galantamine

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CHRNG

Domain mapping of disease mutations (DMDM)

More...DMDMi		126302510

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 22Sequence analysisAdd BLAST22
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000033423 – 517Acetylcholine receptor subunit gammaAdd BLAST495

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi52N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi150 ↔ 164By similarity
Glycosylationi163N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P07510

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P07510

PeptideAtlas

More...PeptideAtlasi		P07510

PRoteomics IDEntifications database

More...PRIDEi		P07510

ProteomicsDB human proteome resource

More...ProteomicsDBi		52012

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P07510

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P07510

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000196811 Expressed in 106 organ(s), highest expression level in gastrocnemius

CleanEx database of gene expression profiles

More...CleanExi		HS_CHRNG

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P07510 HS

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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.

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		107568, 8 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-2179 Muscle-type nicotinic acetylcholine receptor complex, alpha1-beta1-delta-gamma

Protein interaction database and analysis system

More...IntActi		P07510, 17 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000374145

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P07510

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		P07510

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3645 Eukaryota
ENOG410XQGR LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000160041

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000006757

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG003756

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P07510

KEGG Orthology (KO)

More...KOi		K04818

Identification of Orthologs from Complete Genome Data

More...OMAi		CNLIARA

Database of Orthologous Groups

More...OrthoDBi		588360at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P07510

TreeFam database of animal gene trees

More...TreeFami		TF315605

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.70.170.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...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
IPR006029 Neurotrans-gated_channel_TM
IPR018000 Neurotransmitter_ion_chnl_CS
IPR002394 Nicotinic_acetylcholine_rcpt

The PANTHER Classification System

More...PANTHERi		PTHR18945 PTHR18945, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF02931 Neur_chan_LBD, 1 hit
PF02932 Neur_chan_memb, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00254 NICOTINICR
PR00252 NRIONCHANNEL

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF63712 SSF63712, 1 hit
SSF90112 SSF90112, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00236 NEUROTR_ION_CHANNEL, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_055775117 – 169NVDGV…SLIFQ → K in isoform 2. 1 PublicationAdd BLAST53

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS33400.1 [P07510-1]

Protein sequence database of the Protein Information Resource

More...PIRi		A23261

NCBI Reference Sequences

More...RefSeqi		NP_005190.4, NM_005199.4 [P07510-1]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.248101

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000389492; ENSP00000374143; ENSG00000196811 [P07510-2]
ENST00000389494; ENSP00000374145; ENSG00000196811 [P07510-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1146

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1146

UCSC genome browser

More...UCSCi		uc002vsx.1 human [P07510-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

jPOSTiP07510
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

Comparative Toxicogenomics Database

More...CTDi		1146
DisGeNETi1146
EuPathDBiHostDB:ENSG00000196811.11

GeneCards: human genes, protein and diseases

More...GeneCardsi		CHRNG
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

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3645 Eukaryota
ENOG410XQGR LUCA
GeneTreeiENSGT00940000160041
HOGENOMiHOG000006757
HOVERGENiHBG003756
InParanoidiP07510
KOiK04818
OMAiCNLIARA
OrthoDBi588360at2759
PhylomeDBiP07510
TreeFamiTF315605

Enzyme and pathway databases

ReactomeiR-HSA-629587 Highly sodium permeable acetylcholine nicotinic receptors

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		CHRNG

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		1146

Protein Ontology

More...PROi		PR:P07510

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiACHG_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P07510
Secondary accession number(s): B3KWM8, Q14DU4, Q53RG2
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1988
Last sequence update: February 20, 2007
Last modified: January 16, 2019
This is version 183 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
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