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Entry version 196 (26 Feb 2020)
Sequence version 3 (16 Jun 2009)
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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

Caution

It is uncertain whether Met-1 or Met-5 is the initiator.Curated

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 sitei546cGMPSequence analysis1
Binding sitei561cGMPSequence 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 bindingi487 – 609cGMPSequence 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

GO - Biological processi

<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

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

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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

<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 & Seán O’Donoghue; Source: COMPARTMENTS

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 – 164CytoplasmicBy similarityAdd BLAST164
<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>Transmembranei165 – 185Helical; Name=S1By similarityAdd BLAST21
Topological domaini186 – 198ExtracellularBy similarityAdd BLAST13
Transmembranei199 – 217Helical; Name=S2By similarityAdd BLAST19
Topological domaini218 – 239CytoplasmicBy similarityAdd BLAST22
Transmembranei240 – 259Helical; Name=S3By similarityAdd BLAST20
Topological domaini260 – 266ExtracellularBy similarity7
Transmembranei267 – 288Helical; Name=S4By similarityAdd BLAST22
Topological domaini289 – 299CytoplasmicBy similarityAdd BLAST11
Transmembranei300 – 326Helical; Name=S5By similarityAdd BLAST27
Topological domaini327 – 369ExtracellularBy similarityAdd BLAST43
Transmembranei370 – 401Helical; Name=S6By similarityAdd BLAST32
Topological domaini402 – 690CytoplasmicBy 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 mutations 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_009297320S → F in RP49. 1 PublicationCorresponds to variant dbSNP:rs62625014Ensembl.1

Keywords - Diseasei

Disease mutation, 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

Open Targets

More...
OpenTargetsi
ENSG00000198515

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

Polymorphism and mutation 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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002193081 – 690cGMP-gated cation channel alpha-1Add BLAST690

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>Glycosylationi329N-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

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
54614 [P29973-1]

PTM databases

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 117 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
HPA076168

<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%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

Show more details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
107659, 1 interactor

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

3D structure databases

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

More...
SMRi
P29973

Database of comparative protein structure models

More...
ModBasei
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>Regioni350 – 360P-helixBy similarityAdd BLAST11
Regioni361 – 369Selectivity filterBy similarity9
Regioni402 – 484C-linkerBy similarityAdd BLAST83
Regioni485 – 612Cyclic 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 coili623 – 666By similarityAdd BLAST44

<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

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0500 Eukaryota
ENOG410YWWI LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156074

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_005746_12_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P29973

KEGG Orthology (KO)

More...
KOi
K04948

Identification of Orthologs from Complete Genome Data

More...
OMAi
YWLIFDY

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>Sequences (2+)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 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

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

Isoform 1 (identifier: P29973-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MKLSMKNNII NTQQSFVTMP NVIVPDIEKE IRRMENGACS SFSEDDDSAS
60 70 80 90 100
TSEESENENP HARGSFSYKS LRKGGPSQRE QYLPGAIALF NVNNSSNKDQ
110 120 130 140 150
EPEEKKKKKK EKKSKSDDKN ENKNDPEKKK KKKDKEKKKK EEKSKDKKEE
160 170 180 190 200
EKKEVVVIDP SGNTYYNWLF CITLPVMYNW TMVIARACFD ELQSDYLEYW
210 220 230 240 250
LILDYVSDIV YLIDMFVRTR TGYLEQGLLV KEELKLINKY KSNLQFKLDV
260 270 280 290 300
LSLIPTDLLY FKLGWNYPEI RLNRLLRFSR MFEFFQRTET RTNYPNIFRI
310 320 330 340 350
SNLVMYIVII IHWNACVFYS ISKAIGFGND TWVYPDINDP EFGRLARKYV
360 370 380 390 400
YSLYWSTLTL TTIGETPPPV RDSEYVFVVV DFLIGVLIFA TIVGNIGSMI
410 420 430 440 450
SNMNAARAEF QARIDAIKQY MHFRNVSKDM EKRVIKWFDY LWTNKKTVDE
460 470 480 490 500
KEVLKYLPDK LRAEIAINVH LDTLKKVRIF ADCEAGLLVE LVLKLQPQVY
510 520 530 540 550
SPGDYICKKG DIGREMYIIK EGKLAVVADD GVTQFVVLSD GSYFGEISIL
560 570 580 590 600
NIKGSKAGNR RTANIKSIGY SDLFCLSKDD LMEALTEYPD AKTMLEEKGK
610 620 630 640 650
QILMKDGLLD LNIANAGSDP KDLEEKVTRM EGSVDLLQTR FARILAEYES
660 670 680 690
MQQKLKQRLT KVEKFLKPLI DTEFSSIEGP GAESGPIDST
Length:690
Mass (Da):79,586
Last modified:June 16, 2009 - v3
<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:iF1045A210FE33DC0
GO
Isoform 2 (identifier: P29973-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MESRSSPRLECSGAISAHCSLHLPDSSDFQLIFVFLVEMGFHHVGQAGLELLISSDLPTSASQSAGITDM

Show »
Length:759
Mass (Da):86,900
Checksum:i5612065090CCE338
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
128Annotation 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
99Annotation 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 AAB22778 differs from that shown. Reason: Erroneous initiation. Truncated 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 conflicti35E → V in BAF84710 (PubMed:14702039).Curated1
Sequence conflicti50S → Y in AAA52010 (PubMed:1372902).Curated1
Sequence conflicti89L → I in AAA52010 (PubMed:1372902).Curated1
Sequence conflicti150 – 151EE → HH in AAA52010 (PubMed:1372902).Curated2
Sequence conflicti209I → V in BAF84710 (PubMed:14702039).Curated1
Sequence conflicti543Y → T in AAA52010 (PubMed:1372902).Curated1
Sequence conflicti681 – 682GA → WS in AAA52010 (PubMed:1372902).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00929532R → Q1 PublicationCorresponds to variant dbSNP:rs76537883Ensembl.1
Natural variantiVAR_009296118D → N1 PublicationCorresponds to variant dbSNP:rs28642966Ensembl.1
Natural variantiVAR_047385122N → D. Corresponds to variant dbSNP:rs28642966Ensembl.1
Natural variantiVAR_009297320S → F in RP49. 1 PublicationCorresponds to variant dbSNP:rs62625014Ensembl.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0471701M → MESRSSPRLECSGAISAHCS LHLPDSSDFQLIFVFLVEMG FHHVGQAGLELLISSDLPTS ASQSAGITDM in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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

The Consensus CDS (CCDS) project

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CCDSi
CCDS43226.1 [P29973-1]
CCDS47050.1 [P29973-2]

Protein sequence database of the Protein Information Resource

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PIRi
A42161

NCBI Reference Sequences

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RefSeqi
NP_000078.2, NM_000087.3 [P29973-1]
NP_001136036.1, NM_001142564.1 [P29973-2]
XP_011511925.1, XM_011513623.2 [P29973-1]
XP_016863201.1, XM_017007712.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000358519; ENSP00000351320; ENSG00000198515 [P29973-1]
ENST00000402813; ENSP00000384264; ENSG00000198515 [P29973-2]
ENST00000420489; ENSP00000389881; ENSG00000198515 [P29973-1]
ENST00000514170; ENSP00000426862; ENSG00000198515 [P29973-1]
ENST00000544810; ENSP00000443401; ENSG00000198515 [P29973-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
1259

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:1259

UCSC genome browser

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UCSCi
uc003gxt.5 human [P29973-1]

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

<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
S42457 mRNA Translation: AAB22778.1 Different initiation.
AK292021 mRNA Translation: BAF84710.1
AC096749 Genomic DNA No translation available.
AC107068 Genomic DNA Translation: AAY40919.1
CH471069 Genomic DNA Translation: EAW93048.1
S76062 Genomic DNA Translation: AAD14206.1
CCDSiCCDS43226.1 [P29973-1]
CCDS47050.1 [P29973-2]
PIRiA42161
RefSeqiNP_000078.2, NM_000087.3 [P29973-1]
NP_001136036.1, NM_001142564.1 [P29973-2]
XP_011511925.1, XM_011513623.2 [P29973-1]
XP_016863201.1, XM_017007712.1

3D structure databases

SMRiP29973
ModBaseiSearch...

Protein-protein interaction databases

BioGridi107659, 1 interactor
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

iPTMnetiP29973
PhosphoSitePlusiP29973

Polymorphism and mutation databases

BioMutaiCNGA1
DMDMi239938910

Proteomic databases

jPOSTiP29973
MassIVEiP29973
PaxDbiP29973
PeptideAtlasiP29973
PRIDEiP29973
ProteomicsDBi54614 [P29973-1]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
1259

Genome annotation databases

EnsembliENST00000358519; ENSP00000351320; ENSG00000198515 [P29973-1]
ENST00000402813; ENSP00000384264; ENSG00000198515 [P29973-2]
ENST00000420489; ENSP00000389881; ENSG00000198515 [P29973-1]
ENST00000514170; ENSP00000426862; ENSG00000198515 [P29973-1]
ENST00000544810; ENSP00000443401; ENSG00000198515 [P29973-2]
GeneIDi1259
KEGGihsa:1259
UCSCiuc003gxt.5 human [P29973-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
1259
DisGeNETi1259

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CNGA1
GeneReviewsiCNGA1
HGNCiHGNC:2148 CNGA1
HPAiHPA076168
MalaCardsiCNGA1
MIMi123825 gene
613756 phenotype
neXtProtiNX_P29973
OpenTargetsiENSG00000198515
Orphaneti791 Retinitis pigmentosa
PharmGKBiPA26658

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0500 Eukaryota
ENOG410YWWI LUCA
GeneTreeiENSGT00940000156074
HOGENOMiCLU_005746_12_0_1
InParanoidiP29973
KOiK04948
OMAiYWLIFDY
OrthoDBi1073751at2759
PhylomeDBiP29973
TreeFamiTF319048

Enzyme and pathway databases

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

Miscellaneous databases

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 117 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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

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: June 16, 2009
Last modified: February 26, 2020
This is version 196 of the entry and version 3 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

Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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