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UniProtKB - P29973 (CNGA1_HUMAN)

Entry version 206 (25 May 2022)
Sequence version 4 (23 Feb 2022)
Previous versions | rss
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Protein

cGMP-gated cation channel alpha-1

Gene

CNGA1

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

Subunit of the rod cyclic GMP-gated cation channel, which is involved in the final stage of the phototransduction pathway. When light hits rod photoreceptors, cGMP concentrations decrease causing rapid closure of CNGA1/CNGB1 channels and, therefore, hyperpolarization of the membrane potential.

By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei5423',5'-cGMPSequence analysis1
Binding sitei5573',5'-cGMPSequence analysis1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi483 – 6053',5'-cGMPSequence analysisAdd BLAST123

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

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
Biological processIon transport, Sensory transduction, Transport, Vision
LigandcGMP, cGMP-binding, Nucleotide-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P29973

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-2485179, Activation of the phototransduction cascade
R-HSA-2514859, Inactivation, recovery and regulation of the phototransduction cascade

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P29973

Protein family/group databases

Transport Classification Database

More...TCDBi		1.A.1.5.3, the voltage-gated ion channel (vic) superfamily

<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%5Fand%5Ftaxonomy%5Fsection">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:
cGMP-gated cation channel alpha-1
Alternative name(s):
Cyclic nucleotide-gated cation channel 1
Cyclic nucleotide-gated channel alpha-1
Short name:
CNG channel alpha-1
Short name:
CNG-1
Short name:
CNG1
Cyclic nucleotide-gated channel, photoreceptor
Rod photoreceptor cGMP-gated channel subunit alpha
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:CNGA1
Synonyms:CNCG, CNCG1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 4

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:2148, CNGA1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		123825, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P29973

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000198515

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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 domaini1 – 160CytoplasmicBy similarityAdd BLAST160
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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>Transmembranei161 – 181Helical; Name=S1By similarityAdd BLAST21
Topological domaini182 – 194ExtracellularBy similarityAdd BLAST13
Transmembranei195 – 213Helical; Name=S2By similarityAdd BLAST19
Topological domaini214 – 235CytoplasmicBy similarityAdd BLAST22
Transmembranei236 – 255Helical; Name=S3By similarityAdd BLAST20
Topological domaini256 – 262ExtracellularBy similarity7
Transmembranei263 – 284Helical; Name=S4By similarityAdd BLAST22
Topological domaini285 – 295CytoplasmicBy similarityAdd BLAST11
Transmembranei296 – 322Helical; Name=S5By similarityAdd BLAST27
Topological domaini323 – 365ExtracellularBy similarityAdd BLAST43
Transmembranei366 – 397Helical; Name=S6By similarityAdd BLAST32
Topological domaini398 – 686CytoplasmicBy similarityAdd BLAST289

Keywords - Cellular componenti

Cell membrane, Membrane

<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

Retinitis pigmentosa 49 (RP49)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Related information in OMIM
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_009297316S → F in RP49. 1 PublicationCorresponds to variant dbSNP:rs62625014EnsemblClinVar.1

Keywords - Diseasei

Disease variant, Retinitis pigmentosa

Organism-specific databases

DisGeNET

More...DisGeNETi		1259

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		CNGA1

MalaCards human disease database

More...MalaCardsi		CNGA1
MIMi613756, phenotype

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

More...Orphaneti		791, Retinitis pigmentosa

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA26658

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P29973, Tchem

Chemistry databases

Drug and drug target database

More...DrugBanki		DB04209, Dequalinium

DrugCentral

More...DrugCentrali		P29973

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		394

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CNGA1

Domain mapping of disease mutations (DMDM)

More...DMDMi		239938910

<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 describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002193081 – 686cGMP-gated cation channel alpha-1Add BLAST686

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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>Glycosylationi325N-linked (GlcNAc...) asparagineBy similarity1

Keywords - PTMi

Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P29973

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P29973

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

More...PaxDbi		P29973

PeptideAtlas

More...PeptideAtlasi		P29973

PRoteomics IDEntifications database

More...PRIDEi		P29973

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		P29973, 1 site

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P29973

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

More...PhosphoSitePlusi		P29973

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Rod cells in the retina.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000198515, Expressed in amniotic fluid and 135 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P29973, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P29973, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000198515, Tissue enriched (retina)

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Forms a heterotetramer with CNGB1 in a 3:1 ratio. May also form cyclic nucleotide-activated homotetrameric channels, that are efficiently activated by saturating cGMP, but poorly activated by saturating cAMP compared to the heterotetramer with CNGB1.

By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		107659, 39 interactors

Protein interaction database and analysis system

More...IntActi		P29973, 2 interactors

Molecular INTeraction database

More...MINTi		P29973

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000384264

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P29973, protein

<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

Secondary structure

1686
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		P29973

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P29973

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni35 – 79DisorderedSequence analysisAdd BLAST45
Regioni91 – 153DisorderedSequence analysisAdd BLAST63
Regioni346 – 356P-helixBy similarityAdd BLAST11
Regioni357 – 365Selectivity filterBy similarity9
Regioni398 – 480C-linkerBy similarityAdd BLAST83
Regioni481 – 608Cyclic nucleotide-binding domain (CNBD)By similarityAdd BLAST128

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili619 – 662By similarityAdd BLAST44

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi98 – 131Basic and acidic residuesSequence analysisAdd BLAST34
Compositional biasi139 – 153Basic and acidic residuesSequence analysisAdd BLAST15

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The C-terminal coiled-coil domain mediates homotrimerization of CNGA subunits.By similarity

<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 cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGA1 subfamily. [View classification]Curated

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0500, Eukaryota

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_005746_12_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P29973

Database of Orthologous Groups

More...OrthoDBi		1073751at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P29973

TreeFam database of animal gene trees

More...TreeFami		TF319048

Family and domain databases

Conserved Domains Database

More...CDDi		cd00038, CAP_ED, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.60.120.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR032406, CLZ_dom
IPR032945, CNGA1
IPR018490, cNMP-bd-like
IPR018488, cNMP-bd_CS
IPR000595, cNMP-bd_dom
IPR005821, Ion_trans_dom
IPR014710, RmlC-like_jellyroll

The PANTHER Classification System

More...PANTHERi		PTHR45638:SF9, PTHR45638:SF9, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF16526, CLZ, 1 hit
PF00027, cNMP_binding, 1 hit
PF00520, Ion_trans, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00100, cNMP, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF51206, SSF51206, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00888, CNMP_BINDING_1, 1 hit
PS00889, CNMP_BINDING_2, 1 hit
PS50042, CNMP_BINDING_3, 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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

P29973-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MKNNIINTQQ SFVTMPNVIV PDIEKEIRRM ENGACSSFSE DDDSASTSEE 
        60         70         80         90        100
SENENPHARG SFSYKSLRKG GPSQREQYLP GAIALFNVNN SSNKDQEPEE 
       110        120        130        140        150
KKKKKKEKKS KSDDKNENKN DPEKKKKKKD KEKKKKEEKS KDKKEEEKKE 
       160        170        180        190        200
VVVIDPSGNT YYNWLFCITL PVMYNWTMVI ARACFDELQS DYLEYWLILD 
       210        220        230        240        250
YVSDIVYLID MFVRTRTGYL EQGLLVKEEL KLINKYKSNL QFKLDVLSLI 
       260        270        280        290        300
PTDLLYFKLG WNYPEIRLNR LLRFSRMFEF FQRTETRTNY PNIFRISNLV 
       310        320        330        340        350
MYIVIIIHWN ACVFYSISKA IGFGNDTWVY PDINDPEFGR LARKYVYSLY 
       360        370        380        390        400
WSTLTLTTIG ETPPPVRDSE YVFVVVDFLI GVLIFATIVG NIGSMISNMN 
       410        420        430        440        450
AARAEFQARI DAIKQYMHFR NVSKDMEKRV IKWFDYLWTN KKTVDEKEVL 
       460        470        480        490        500
KYLPDKLRAE IAINVHLDTL KKVRIFADCE AGLLVELVLK LQPQVYSPGD 
       510        520        530        540        550
YICKKGDIGR EMYIIKEGKL AVVADDGVTQ FVVLSDGSYF GEISILNIKG 
       560        570        580        590        600
SKAGNRRTAN IKSIGYSDLF CLSKDDLMEA LTEYPDAKTM LEEKGKQILM 
       610        620        630        640        650
KDGLLDLNIA NAGSDPKDLE EKVTRMEGSV DLLQTRFARI LAEYESMQQK 
       660        670        680 
LKQRLTKVEK FLKPLIDTEF SSIEGPGAES GPIDST
Length:686
Mass (Da):79,126
Last modified:February 23, 2022 - v4
<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:iE5200D216FC97AF6
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RCF1D6RCF1_HUMAN
cGMP-gated cation channel alpha-1
CNGA1
124Annotation score:

Annotation score:1 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>
D6R978D6R978_HUMAN
cGMP-gated cation channel alpha-1
CNGA1
95Annotation score:

Annotation score:1 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>

<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 AAA52010 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence BAF84710 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.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 conflicti1M → MKLSM in BAF84710 (PubMed:14702039).Curated1
Sequence conflicti1M → MKLSM in AAA52010 (PubMed:1372902).Curated1
Sequence conflicti31E → V in BAF84710 (PubMed:14702039).Curated1
Sequence conflicti46S → Y in AAA52010 (PubMed:1372902).Curated1
Sequence conflicti85L → I in AAA52010 (PubMed:1372902).Curated1
Sequence conflicti146 – 147EE → HH in AAA52010 (PubMed:1372902).Curated2
Sequence conflicti205I → V in BAF84710 (PubMed:14702039).Curated1
Sequence conflicti539Y → T in AAA52010 (PubMed:1372902).Curated1
Sequence conflicti677 – 678GA → WS in AAA52010 (PubMed:1372902).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00929528R → Q1 PublicationCorresponds to variant dbSNP:rs76537883EnsemblClinVar.1
Natural variantiVAR_009296114D → N2 PublicationsCorresponds to variant dbSNP:rs28642966EnsemblClinVar.1
Natural variantiVAR_047385118N → D. Corresponds to variant dbSNP:rs28642966EnsemblClinVar.1
Natural variantiVAR_009297316S → F in RP49. 1 PublicationCorresponds to variant dbSNP:rs62625014EnsemblClinVar.1

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
M84741 mRNA Translation: AAA52010.1 Different initiation.
S42457 mRNA Translation: AAB22778.1
AK292021 mRNA Translation: BAF84710.1 Different initiation.
AC096749 Genomic DNA No translation available.
AC107068 Genomic DNA Translation: AAY40919.1
CH471069 Genomic DNA Translation: EAW93048.1
S76062 Genomic DNA Translation: AAD14206.1

Protein sequence database of the Protein Information Resource

More...PIRi		A42161

NCBI Reference Sequences

More...RefSeqi		NP_000078.2, NM_000087.3
NP_001136036.1, NM_001142564.1
XP_016863201.1, XM_017007712.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000402813.9; ENSP00000384264.5; ENSG00000198515.16
ENST00000420489.7; ENSP00000389881.3; ENSG00000198515.16
ENST00000514170.7; ENSP00000426862.3; ENSG00000198515.16

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1259

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1259

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000514170.7; ENSP00000426862.3; NM_001379270.1; NP_001366199.1

UCSC genome browser

More...UCSCi		uc003gxt.5, human

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Mutations of the CNGA1 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M84741 mRNA Translation: AAA52010.1 Different initiation.
S42457 mRNA Translation: AAB22778.1
AK292021 mRNA Translation: BAF84710.1 Different initiation.
AC096749 Genomic DNA No translation available.
AC107068 Genomic DNA Translation: AAY40919.1
CH471069 Genomic DNA Translation: EAW93048.1
S76062 Genomic DNA Translation: AAD14206.1
PIRiA42161
RefSeqiNP_000078.2, NM_000087.3
NP_001136036.1, NM_001142564.1
XP_016863201.1, XM_017007712.1

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
7LFTelectron microscopy2.60A/B/C/D140-686[»]
7LFWelectron microscopy2.90A/B/C/D140-686[»]
7LFXelectron microscopy3.10A/B/C/D140-686[»]
7LFYelectron microscopy3.60A/B/C/D140-686[»]
7LG1electron microscopy2.70A/B/C/D140-686[»]
7RH9electron microscopy2.61A/C/D140-686[»]
7RHGelectron microscopy2.88A/C/D140-686[»]
7RHHelectron microscopy3.31A/C/D140-686[»]
7RHIelectron microscopy3.31A/C/D140-686[»]
7RHJelectron microscopy2.88A/C/D140-686[»]
7RHKelectron microscopy3.27A/C/D140-686[»]
7RHLelectron microscopy3.03A/C/D140-686[»]
AlphaFoldDBiP29973
SMRiP29973
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi107659, 39 interactors
IntActiP29973, 2 interactors
MINTiP29973
STRINGi9606.ENSP00000384264

Chemistry databases

DrugBankiDB04209, Dequalinium
DrugCentraliP29973
GuidetoPHARMACOLOGYi394

Protein family/group databases

TCDBi1.A.1.5.3, the voltage-gated ion channel (vic) superfamily

PTM databases

GlyGeniP29973, 1 site
iPTMnetiP29973
PhosphoSitePlusiP29973

Genetic variation databases

BioMutaiCNGA1
DMDMi239938910

Proteomic databases

jPOSTiP29973
MassIVEiP29973
PaxDbiP29973
PeptideAtlasiP29973
PRIDEiP29973

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		23791, 101 antibodies from 23 providers

The DNASU plasmid repository

More...DNASUi		1259

Genome annotation databases

EnsembliENST00000402813.9; ENSP00000384264.5; ENSG00000198515.16
ENST00000420489.7; ENSP00000389881.3; ENSG00000198515.16
ENST00000514170.7; ENSP00000426862.3; ENSG00000198515.16
GeneIDi1259
KEGGihsa:1259
MANE-SelectiENST00000514170.7; ENSP00000426862.3; NM_001379270.1; NP_001366199.1
UCSCiuc003gxt.5, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		1259
DisGeNETi1259

GeneCards: human genes, protein and diseases

More...GeneCardsi		CNGA1
GeneReviewsiCNGA1
HGNCiHGNC:2148, CNGA1
HPAiENSG00000198515, Tissue enriched (retina)
MalaCardsiCNGA1
MIMi123825, gene
613756, phenotype
neXtProtiNX_P29973
Orphaneti791, Retinitis pigmentosa
PharmGKBiPA26658
VEuPathDBiHostDB:ENSG00000198515

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0500, Eukaryota
HOGENOMiCLU_005746_12_0_1
InParanoidiP29973
OrthoDBi1073751at2759
PhylomeDBiP29973
TreeFamiTF319048

Enzyme and pathway databases

PathwayCommonsiP29973
ReactomeiR-HSA-2485179, Activation of the phototransduction cascade
R-HSA-2514859, Inactivation, recovery and regulation of the phototransduction cascade
SignaLinkiP29973

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		1259, 26 hits in 1064 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		CNGA1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Cyclic_nucleotide-gated_channel_alpha_1

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

More...GenomeRNAii		1259
PharosiP29973, Tchem

Protein Ontology

More...PROi		PR:P29973
RNActiP29973, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000198515, Expressed in amniotic fluid and 135 other tissues
ExpressionAtlasiP29973, baseline and differential
GenevisibleiP29973, HS

Family and domain databases

CDDicd00038, CAP_ED, 1 hit
Gene3Di2.60.120.10, 1 hit
InterProiView protein in InterPro
IPR032406, CLZ_dom
IPR032945, CNGA1
IPR018490, cNMP-bd-like
IPR018488, cNMP-bd_CS
IPR000595, cNMP-bd_dom
IPR005821, Ion_trans_dom
IPR014710, RmlC-like_jellyroll
PANTHERiPTHR45638:SF9, PTHR45638:SF9, 1 hit
PfamiView protein in Pfam
PF16526, CLZ, 1 hit
PF00027, cNMP_binding, 1 hit
PF00520, Ion_trans, 1 hit
SMARTiView protein in SMART
SM00100, cNMP, 1 hit
SUPFAMiSSF51206, SSF51206, 1 hit
PROSITEiView protein in PROSITE
PS00888, CNMP_BINDING_1, 1 hit
PS00889, CNMP_BINDING_2, 1 hit
PS50042, CNMP_BINDING_3, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 nameiCNGA1_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: P29973
Secondary accession number(s): A8K7K6
, J3KPZ2, Q16279, Q16485, Q4W5E3
<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%5Fand%5Fisoforms">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, 1993
Last sequence update: February 23, 2022
Last modified: May 25, 2022
This is version 206 of the entry and version 4 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

3D-structure, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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