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Entry version 186 (18 Sep 2019)
Sequence version 2 (04 May 2001)
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Protein

Cyclic nucleotide-gated cation channel alpha-3

Gene

CNGA3

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

Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cyclic GMP which leads to an opening of the cation channel and thereby causing a depolarization of cone photoreceptors. Induced a flickering channel gating, weakened the outward rectification in the presence of extracellular calcium, increased sensitivity for L-cis diltiazem and enhanced the cAMP efficacy of the channel when coexpressed with CNGB3 (By similarity). Essential for the generation of light-evoked electrical responses in the red-, green- and blue sensitive cones.By similarity1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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 sitei549cGMPSequence analysis1
Binding sitei564cGMPSequence analysis1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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 bindingi482 – 605cGMPAdd BLAST124

<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

Protein family/group databases

Transport Classification Database

More...
TCDBi
1.A.1.5.12 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_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:
Cyclic nucleotide-gated cation channel alpha-3
Alternative name(s):
Cone photoreceptor cGMP-gated channel subunit alpha
Cyclic nucleotide-gated channel alpha-3
Short name:
CNG channel alpha-3
Short name:
CNG-3
Short name:
CNG3
<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:CNGA3
Synonyms:CNCG3
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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

Human Gene Nomenclature Database

More...
HGNCi
HGNC:2150 CNGA3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
600053 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q16281

<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_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 domaini1 – 166CytoplasmicSequence analysisAdd BLAST166
<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>Transmembranei167 – 187Helical; Name=H1Sequence analysisAdd BLAST21
Topological domaini188 – 199ExtracellularSequence analysisAdd BLAST12
Transmembranei200 – 220Helical; Name=H2Sequence analysisAdd BLAST21
Topological domaini221 – 252CytoplasmicSequence analysisAdd BLAST32
Transmembranei253 – 273Helical; Name=H3Sequence analysisAdd BLAST21
Topological domaini274 – 302ExtracellularSequence analysisAdd BLAST29
Transmembranei303 – 323Helical; Name=H4Sequence analysisAdd BLAST21
Topological domaini324 – 378CytoplasmicSequence analysisAdd BLAST55
Transmembranei379 – 399Helical; Name=H5Sequence analysisAdd BLAST21
Topological domaini400 – 481ExtracellularSequence analysisAdd BLAST82
Transmembranei482 – 502Helical; Name=H6Sequence analysisAdd BLAST21
Topological domaini503 – 694CytoplasmicSequence analysisAdd BLAST192

Keywords - Cellular componenti

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

Achromatopsia 2 (ACHM2)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive, ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus.
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_047566162D → V in ACHM2. 1 PublicationCorresponds to variant dbSNP:rs747447519Ensembl.1
Natural variantiVAR_010903163P → L in ACHM2. 2 PublicationsCorresponds to variant dbSNP:rs104893612EnsemblClinVar.1
Natural variantiVAR_071436171W → C in ACHM2; also found in patients with cone-rod dystrophy. 1 PublicationCorresponds to variant dbSNP:rs762773298Ensembl.1
Natural variantiVAR_047567181Y → C in ACHM2. 1 Publication1
Natural variantiVAR_047568182N → Y in ACHM2. 1 Publication1
Natural variantiVAR_047569186L → F in ACHM2. 1 Publication1
Natural variantiVAR_047570191C → Y in ACHM2. 1 PublicationCorresponds to variant dbSNP:rs761554853Ensembl.1
Natural variantiVAR_047571194E → K in ACHM2. 1 Publication1
Natural variantiVAR_071438223R → Q in ACHM2. 1 PublicationCorresponds to variant dbSNP:rs762668060Ensembl.1
Natural variantiVAR_047572223R → W in ACHM2; also found in patients with cone-rod dystrophy. 4 PublicationsCorresponds to variant dbSNP:rs138958917EnsemblClinVar.1
Natural variantiVAR_047573224T → R in ACHM2. 1 Publication1
Natural variantiVAR_047574228E → K in ACHM2; unknown pathological significance; the dose-response relationship for cGMP-activation is not significantly different from that of wild-type CNGA3; the dose-response relationship of the mutant CNGA3 + CNGB3 is similar to that of the wild-type protein; the channel density into the cell membrane is considerably improved by decreasing the cultivation temperature. 1 PublicationCorresponds to variant dbSNP:rs147415641EnsemblClinVar.1
Natural variantiVAR_047575249F → S in ACHM2. 1 Publication1
Natural variantiVAR_047576260D → N in ACHM2; also found in patients with cone-rod dystrophy. 2 PublicationsCorresponds to variant dbSNP:rs374258471Ensembl.1
Natural variantiVAR_047577263Y → D in ACHM2. 1 PublicationCorresponds to variant dbSNP:rs943314733Ensembl.1
Natural variantiVAR_047578267G → D in ACHM2. 1 PublicationCorresponds to variant dbSNP:rs781673067Ensembl.1
Natural variantiVAR_071442274R → K in ACHM2. 1 Publication1
Natural variantiVAR_047579277R → C in ACHM2; also found in patients with cone-rod dystrophy; does not form functional homomeric or heteromeric channels. 5 PublicationsCorresponds to variant dbSNP:rs104893620EnsemblClinVar.1
Natural variantiVAR_047580277R → H in ACHM2; also found in patients with cone-rod dystrophy. 2 PublicationsCorresponds to variant dbSNP:rs778114016Ensembl.1
Natural variantiVAR_071443278L → P in ACHM2. 1 PublicationCorresponds to variant dbSNP:rs763421555Ensembl.1
Natural variantiVAR_010904283R → Q in ACHM2; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius; the channel function could be restored by incubating the transfected cells at 27 degrees Celsius; the dose-response relationship for cGMP-activation is not significantly different from that of wild-type CNGA3; the dose-response relationship of the mutant CNGA3 + CNGB3 is similar to that of the wild-type protein; a substantial reduction of macroscopic cGMP maximum current to only one-third of the mean value for wild-type CNGA3 + CNGB3 is observed for the mutant CNGA3 + CNGB3; the channel density into the cell membrane is considerably improved by decreasing the cultivation temparature. 3 PublicationsCorresponds to variant dbSNP:rs104893614EnsemblClinVar.1
Natural variantiVAR_010905283R → W in ACHM2; also found in patients with cone-rod dystrophy. 3 PublicationsCorresponds to variant dbSNP:rs104893613EnsemblClinVar.1
Natural variantiVAR_010906291T → R in ACHM2; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius; the channel function could be restored by incubating the transfected cells at 27 degrees Celsius; the K(1/2) value is shifted toward a higher cGMP concentration by a factor of 1.8; no positive influence of the CNGB3 subunit in the cGMP sensitivity is observed; a substantial reduction of macroscopic cGMP maximum current to only one-third of the mean value for wild-type CNGA3 + CNGB3 is observed for the mutant CNGA3 + CNGB3; the channel density into the cell membrane is considerably improved by decreasing the cultivation temparature. 3 PublicationsCorresponds to variant dbSNP:rs104893616EnsemblClinVar.1
Natural variantiVAR_047581312Missing in ACHM2. 1 Publication1
Natural variantiVAR_071444322F → S in ACHM2. 1 Publication1
Natural variantiVAR_075493323A → D in ACHM2. 1 Publication1
Natural variantiVAR_047582341S → P in ACHM2. 2 PublicationsCorresponds to variant dbSNP:rs1227761587Ensembl.1
Natural variantiVAR_047583369T → S in ACHM2. 1 PublicationCorresponds to variant dbSNP:rs766637612Ensembl.1
Natural variantiVAR_047584372P → S in ACHM2. 1 PublicationCorresponds to variant dbSNP:rs1464167194Ensembl.1
Natural variantiVAR_047585380F → S in ACHM2. 1 Publication1
Natural variantiVAR_047586401S → P in ACHM2. 1 PublicationCorresponds to variant dbSNP:rs916035276Ensembl.1
Natural variantiVAR_047587406M → T in ACHM2. 1 PublicationCorresponds to variant dbSNP:rs1553450734EnsemblClinVar.1
Natural variantiVAR_010910410R → W in ACHM2. 3 PublicationsCorresponds to variant dbSNP:rs137852608EnsemblClinVar.1
Natural variantiVAR_047588427R → C in ACHM2. 2 PublicationsCorresponds to variant dbSNP:rs141386891EnsemblClinVar.1
Natural variantiVAR_071447436R → Q in ACHM2. 1 PublicationCorresponds to variant dbSNP:rs767083685Ensembl.1
Natural variantiVAR_047589436R → W in ACHM2; also found in patients with cone-rod dystrophy. 4 PublicationsCorresponds to variant dbSNP:rs104893621EnsemblClinVar.1
Natural variantiVAR_047590439R → W in ACHM2; also found in patients with cone-rod dystrophy; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius. 2 PublicationsCorresponds to variant dbSNP:rs749842881Ensembl.1
Natural variantiVAR_047591469A → T in ACHM2; the dose-response relationship for cGMP-activation is shifted toward a lower cGMP concentration; the left shift in the dose-response relationship of the mutant CNGA3 is less distinctive than in homomeric channels with this mutation indicating a partial rescue effect of the CNGB3 subunit; is in large part located in the cell membrane at 37 and 27 degrees Celsius. 1 PublicationCorresponds to variant dbSNP:rs117522010EnsemblClinVar.1
Natural variantiVAR_047592471N → S in ACHM2; mutant CNGA3 alone or together with the CNGB3 subunit exhibit an increase in apparent affinity for cGMP and an increase in the relative agonist efficacy of cAMP compared with cGMP; cell surface expression levels is unchanged. 2 PublicationsCorresponds to variant dbSNP:rs373954146Ensembl.1
Natural variantiVAR_047593485D → V in ACHM2. 1 Publication1
Natural variantiVAR_047594510C → S in ACHM2. 1 PublicationCorresponds to variant dbSNP:rs908111816Ensembl.1
Natural variantiVAR_047595513G → E in ACHM2. 1 Publication1
Natural variantiVAR_047596516G → E in ACHM2. 1 Publication1
Natural variantiVAR_047597522I → T in ACHM2. 1 Publication1
Natural variantiVAR_047598525G → D in ACHM2. 1 Publication1
Natural variantiVAR_010907529V → M in ACHM2; also found in patients with cone-rod dystrophy. 4 PublicationsCorresponds to variant dbSNP:rs104893619EnsemblClinVar.1
Natural variantiVAR_071449543 – 545Missing in ACHM2. 1 Publication3
Natural variantiVAR_010908547F → L in ACHM2; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius; the channel function could be restored by incubating the transfected cells at 27 degrees Celsius; the dose-response relationship for cGMP-activation is shifted toward a lower cGMP concentration; a substantial reduction of macroscopic cGMP maximum current to only one-third of the mean value for wild-type CNGA3 + CNGB3 is observed for the mutant CNGA3 + CNGB3; is in large part located in the cell membrane at 37 and 27 degrees Celsius. 4 PublicationsCorresponds to variant dbSNP:rs104893617EnsemblClinVar.1
Natural variantiVAR_047599548G → R in ACHM2. 1 PublicationCorresponds to variant dbSNP:rs781227859Ensembl.1
Natural variantiVAR_010909557G → R in ACHM2; the K(1/2) value is shifted toward a higher cGMP concentration by a factor of 3.0; no positive influence of the CNGB3 subunit in the cGMP sensitivity is observed; average cGMP maximum current is decreased to half of the mean wild-type value for the mutant CNGA3 + CNGB3. 3 PublicationsCorresponds to variant dbSNP:rs104893615EnsemblClinVar.1
Natural variantiVAR_047600563R → H in ACHM2; mutant CNGA3 alone or together with the CNGB3 subunit exhibit an increase in apparent affinity for cGMP and an increase in the relative agonist efficacy of cAMP compared with cGMP; cell surface expression levels is significantly reduced. 2 PublicationsCorresponds to variant dbSNP:rs552069173EnsemblClinVar.1
Natural variantiVAR_047601565T → M in ACHM2. 2 PublicationsCorresponds to variant dbSNP:rs201747279Ensembl.1
Natural variantiVAR_047602569R → H in ACHM2. 3 PublicationsCorresponds to variant dbSNP:rs201782746Ensembl.1
Natural variantiVAR_047603573Y → C in ACHM2. 1 Publication1
Natural variantiVAR_047604590E → K in ACHM2; also found in patients with cone-rod dystrophy; the dose-response relationship for cGMP-activation is shifted toward a lower cGMP concentration. 3 PublicationsCorresponds to variant dbSNP:rs763041373Ensembl.1
Natural variantiVAR_047605593E → K in ACHM2. 1 PublicationCorresponds to variant dbSNP:rs774676415EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Leber congenital amaurosis

Organism-specific databases

DisGeNET

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DisGeNETi
1261

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

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GeneReviewsi
CNGA3

MalaCards human disease database

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MalaCardsi
CNGA3
MIMi216900 phenotype

Open Targets

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OpenTargetsi
ENSG00000144191

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

More...
Orphaneti
49382 Achromatopsia
1872 Cone rod dystrophy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA26660

Chemistry databases

IUPHAR/BPS Guide to PHARMACOLOGY

More...
GuidetoPHARMACOLOGYi
396

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
CNGA3

Domain mapping of disease mutations (DMDM)

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DMDMi
13959682

<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_00002193171 – 694Cyclic nucleotide-gated cation channel alpha-3Add BLAST694

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q16281

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

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PaxDbi
Q16281

PeptideAtlas

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PeptideAtlasi
Q16281

PRoteomics IDEntifications database

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PRIDEi
Q16281

ProteomicsDB human proteome resource

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ProteomicsDBi
20054
60848 [Q16281-1]
60849 [Q16281-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q16281

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

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PhosphoSitePlusi
Q16281

<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

Prominently expressed in retina.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000144191 Expressed in 59 organ(s), highest expression level in adenohypophysis

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q16281 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB079025
HPA049378

<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

Tetramer formed of three CNGA3 and one CNGB3 modulatory subunits.

3 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
107661, 28 interactors

Protein interaction database and analysis system

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IntActi
Q16281, 27 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000377140

<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

1694
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
Q16281

Database of comparative protein structure models

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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

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 coili626 – 669Add 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.

<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

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eggNOGi
KOG0500 Eukaryota
ENOG410YWWI LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000158737

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000007898

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q16281

KEGG Orthology (KO)

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KOi
K04950

Identification of Orthologs from Complete Genome Data

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OMAi
FYNWCML

Database of Orthologous Groups

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OrthoDBi
1073751at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q16281

TreeFam database of animal gene trees

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TreeFami
TF319048

Family and domain databases

Conserved Domains Database

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CDDi
cd00038 CAP_ED, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.120.10, 1 hit

Integrated resource of protein families, domains and functional sites

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

Pfam protein domain database

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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

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SMARTi
View protein in SMART
SM00100 cNMP, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF51206 SSF51206, 1 hit

PROSITE; a protein domain and family database

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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_length">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 (3)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.

This entry describes 3 <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: Q16281-1) [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
MAKINTQYSH PSRTHLKVKT SDRDLNRAEN GLSRAHSSSE ETSSVLQPGI
60 70 80 90 100
AMETRGLADS GQGSFTGQGI ARLSRLIFLL RRWAARHVHH QDQGPDSFPD
110 120 130 140 150
RFRGAELKEV SSQESNAQAN VGSQEPADRG RSAWPLAKCN TNTSNNTEEE
160 170 180 190 200
KKTKKKDAIV VDPSSNLYYR WLTAIALPVF YNWYLLICRA CFDELQSEYL
210 220 230 240 250
MLWLVLDYSA DVLYVLDVLV RARTGFLEQG LMVSDTNRLW QHYKTTTQFK
260 270 280 290 300
LDVLSLVPTD LAYLKVGTNY PEVRFNRLLK FSRLFEFFDR TETRTNYPNM
310 320 330 340 350
FRIGNLVLYI LIIIHWNACI YFAISKFIGF GTDSWVYPNI SIPEHGRLSR
360 370 380 390 400
KYIYSLYWST LTLTTIGETP PPVKDEEYLF VVVDFLVGVL IFATIVGNVG
410 420 430 440 450
SMISNMNASR AEFQAKIDSI KQYMQFRKVT KDLETRVIRW FDYLWANKKT
460 470 480 490 500
VDEKEVLKSL PDKLKAEIAI NVHLDTLKKV RIFQDCEAGL LVELVLKLRP
510 520 530 540 550
TVFSPGDYIC KKGDIGKEMY IINEGKLAVV ADDGVTQFVV LSDGSYFGEI
560 570 580 590 600
SILNIKGSKS GNRRTANIRS IGYSDLFCLS KDDLMEALTE YPEAKKALEE
610 620 630 640 650
KGRQILMKDN LIDEELARAG ADPKDLEEKV EQLGSSLDTL QTRFARLLAE
660 670 680 690
YNATQMKMKQ RLSQLESQVK GGGDKPLADG EVPGDATKTE DKQQ
Length:694
Mass (Da):78,838
Last modified:May 4, 2001 - 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:iAE00B4EE760D70A0
GO
Isoform 2 (identifier: Q16281-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     132-150: SAWPLAKCNTNTSNNTEEE → R

Note: No experimental confirmation available.
Show »
Length:676
Mass (Da):76,903
Checksum:iC6FB264BE7EB3D8D
GO
Isoform 3 (identifier: Q16281-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-71: MAKINTQYSH...QGSFTGQGIA → METRGLADSG...SPGCSSGPQG

Note: No experimental confirmation available.
Show »
Length:698
Mass (Da):79,062
Checksum:i77B8976209457738
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04756548P → L1 PublicationCorresponds to variant dbSNP:rs62156348EnsemblClinVar.1
Natural variantiVAR_071435120N → D1 PublicationCorresponds to variant dbSNP:rs199859850Ensembl.1
Natural variantiVAR_010902153T → M2 PublicationsCorresponds to variant dbSNP:rs34314205EnsemblClinVar.1
Natural variantiVAR_047566162D → V in ACHM2. 1 PublicationCorresponds to variant dbSNP:rs747447519Ensembl.1
Natural variantiVAR_010903163P → L in ACHM2. 2 PublicationsCorresponds to variant dbSNP:rs104893612EnsemblClinVar.1
Natural variantiVAR_071436171W → C in ACHM2; also found in patients with cone-rod dystrophy. 1 PublicationCorresponds to variant dbSNP:rs762773298Ensembl.1
Natural variantiVAR_047567181Y → C in ACHM2. 1 Publication1
Natural variantiVAR_047568182N → Y in ACHM2. 1 Publication1
Natural variantiVAR_047569186L → F in ACHM2. 1 Publication1
Natural variantiVAR_047570191C → Y in ACHM2. 1 PublicationCorresponds to variant dbSNP:rs761554853Ensembl.1
Natural variantiVAR_047571194E → K in ACHM2. 1 Publication1
Natural variantiVAR_021963198E → K1 PublicationCorresponds to variant dbSNP:rs2271041EnsemblClinVar.1
Natural variantiVAR_071438223R → Q in ACHM2. 1 PublicationCorresponds to variant dbSNP:rs762668060Ensembl.1
Natural variantiVAR_047572223R → W in ACHM2; also found in patients with cone-rod dystrophy. 4 PublicationsCorresponds to variant dbSNP:rs138958917EnsemblClinVar.1
Natural variantiVAR_071439224T → I Probable disease-associated mutation found in patients with cone-rod dystrophy. 1 Publication1
Natural variantiVAR_047573224T → R in ACHM2. 1 Publication1
Natural variantiVAR_047574228E → K in ACHM2; unknown pathological significance; the dose-response relationship for cGMP-activation is not significantly different from that of wild-type CNGA3; the dose-response relationship of the mutant CNGA3 + CNGB3 is similar to that of the wild-type protein; the channel density into the cell membrane is considerably improved by decreasing the cultivation temperature. 1 PublicationCorresponds to variant dbSNP:rs147415641EnsemblClinVar.1
Natural variantiVAR_071440247T → M1 PublicationCorresponds to variant dbSNP:rs148616345EnsemblClinVar.1
Natural variantiVAR_047575249F → S in ACHM2. 1 Publication1
Natural variantiVAR_071441258P → R Probable disease-associated mutation found in patients with cone-rod dystrophy. 1 Publication1
Natural variantiVAR_047576260D → N in ACHM2; also found in patients with cone-rod dystrophy. 2 PublicationsCorresponds to variant dbSNP:rs374258471Ensembl.1
Natural variantiVAR_047577263Y → D in ACHM2. 1 PublicationCorresponds to variant dbSNP:rs943314733Ensembl.1
Natural variantiVAR_047578267G → D in ACHM2. 1 PublicationCorresponds to variant dbSNP:rs781673067Ensembl.1
Natural variantiVAR_071442274R → K in ACHM2. 1 Publication1
Natural variantiVAR_047579277R → C in ACHM2; also found in patients with cone-rod dystrophy; does not form functional homomeric or heteromeric channels. 5 PublicationsCorresponds to variant dbSNP:rs104893620EnsemblClinVar.1
Natural variantiVAR_047580277R → H in ACHM2; also found in patients with cone-rod dystrophy. 2 PublicationsCorresponds to variant dbSNP:rs778114016Ensembl.1
Natural variantiVAR_071443278L → P in ACHM2. 1 PublicationCorresponds to variant dbSNP:rs763421555Ensembl.1
Natural variantiVAR_010904283R → Q in ACHM2; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius; the channel function could be restored by incubating the transfected cells at 27 degrees Celsius; the dose-response relationship for cGMP-activation is not significantly different from that of wild-type CNGA3; the dose-response relationship of the mutant CNGA3 + CNGB3 is similar to that of the wild-type protein; a substantial reduction of macroscopic cGMP maximum current to only one-third of the mean value for wild-type CNGA3 + CNGB3 is observed for the mutant CNGA3 + CNGB3; the channel density into the cell membrane is considerably improved by decreasing the cultivation temparature. 3 PublicationsCorresponds to variant dbSNP:rs104893614EnsemblClinVar.1
Natural variantiVAR_010905283R → W in ACHM2; also found in patients with cone-rod dystrophy. 3 PublicationsCorresponds to variant dbSNP:rs104893613EnsemblClinVar.1
Natural variantiVAR_010906291T → R in ACHM2; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius; the channel function could be restored by incubating the transfected cells at 27 degrees Celsius; the K(1/2) value is shifted toward a higher cGMP concentration by a factor of 1.8; no positive influence of the CNGB3 subunit in the cGMP sensitivity is observed; a substantial reduction of macroscopic cGMP maximum current to only one-third of the mean value for wild-type CNGA3 + CNGB3 is observed for the mutant CNGA3 + CNGB3; the channel density into the cell membrane is considerably improved by decreasing the cultivation temparature. 3 PublicationsCorresponds to variant dbSNP:rs104893616EnsemblClinVar.1
Natural variantiVAR_047581312Missing in ACHM2. 1 Publication1
Natural variantiVAR_071444322F → S in ACHM2. 1 Publication1
Natural variantiVAR_075493323A → D in ACHM2. 1 Publication1
Natural variantiVAR_071445330F → S Probable disease-associated mutation found in patients with cone-rod dystrophy. 1 Publication1
Natural variantiVAR_071446334S → F Probable disease-associated mutation found in patients with cone-rod dystrophy. 1 Publication1
Natural variantiVAR_069398335W → C1 Publication1
Natural variantiVAR_047582341S → P in ACHM2. 2 PublicationsCorresponds to variant dbSNP:rs1227761587Ensembl.1
Natural variantiVAR_047583369T → S in ACHM2. 1 PublicationCorresponds to variant dbSNP:rs766637612Ensembl.1
Natural variantiVAR_047584372P → S in ACHM2. 1 PublicationCorresponds to variant dbSNP:rs1464167194Ensembl.1
Natural variantiVAR_047585380F → S in ACHM2. 1 Publication1
Natural variantiVAR_047586401S → P in ACHM2. 1 PublicationCorresponds to variant dbSNP:rs916035276Ensembl.1
Natural variantiVAR_047587406M → T in ACHM2. 1 PublicationCorresponds to variant dbSNP:rs1553450734EnsemblClinVar.1
Natural variantiVAR_010910410R → W in ACHM2. 3 PublicationsCorresponds to variant dbSNP:rs137852608EnsemblClinVar.1
Natural variantiVAR_047588427R → C in ACHM2. 2 PublicationsCorresponds to variant dbSNP:rs141386891EnsemblClinVar.1
Natural variantiVAR_071447436R → Q in ACHM2. 1 PublicationCorresponds to variant dbSNP:rs767083685Ensembl.1
Natural variantiVAR_047589436R → W in ACHM2; also found in patients with cone-rod dystrophy. 4 PublicationsCorresponds to variant dbSNP:rs104893621EnsemblClinVar.1
Natural variantiVAR_047590439R → W in ACHM2; also found in patients with cone-rod dystrophy; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius. 2 PublicationsCorresponds to variant dbSNP:rs749842881Ensembl.1
Natural variantiVAR_047591469A → T in ACHM2; the dose-response relationship for cGMP-activation is shifted toward a lower cGMP concentration; the left shift in the dose-response relationship of the mutant CNGA3 is less distinctive than in homomeric channels with this mutation indicating a partial rescue effect of the CNGB3 subunit; is in large part located in the cell membrane at 37 and 27 degrees Celsius. 1 PublicationCorresponds to variant dbSNP:rs117522010EnsemblClinVar.1
Natural variantiVAR_047592471N → S in ACHM2; mutant CNGA3 alone or together with the CNGB3 subunit exhibit an increase in apparent affinity for cGMP and an increase in the relative agonist efficacy of cAMP compared with cGMP; cell surface expression levels is unchanged. 2 PublicationsCorresponds to variant dbSNP:rs373954146Ensembl.1
Natural variantiVAR_047593485D → V in ACHM2. 1 Publication1
Natural variantiVAR_047594510C → S in ACHM2. 1 PublicationCorresponds to variant dbSNP:rs908111816Ensembl.1
Natural variantiVAR_047595513G → E in ACHM2. 1 Publication1
Natural variantiVAR_047596516G → E in ACHM2. 1 Publication1
Natural variantiVAR_047597522I → T in ACHM2. 1 Publication1
Natural variantiVAR_047598525G → D in ACHM2. 1 Publication1
Natural variantiVAR_066860527L → M Found in a patient with Leber congenital amaurosis; unknown pathological significance. 1 Publication1
Natural variantiVAR_010907529V → M in ACHM2; also found in patients with cone-rod dystrophy. 4 PublicationsCorresponds to variant dbSNP:rs104893619EnsemblClinVar.1
Natural variantiVAR_071448533D → H Probable disease-associated mutation found in patients with cone-rod dystrophy. 1 PublicationCorresponds to variant dbSNP:rs775332304EnsemblClinVar.1
Natural variantiVAR_071449543 – 545Missing in ACHM2. 1 Publication3
Natural variantiVAR_010908547F → L in ACHM2; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius; the channel function could be restored by incubating the transfected cells at 27 degrees Celsius; the dose-response relationship for cGMP-activation is shifted toward a lower cGMP concentration; a substantial reduction of macroscopic cGMP maximum current to only one-third of the mean value for wild-type CNGA3 + CNGB3 is observed for the mutant CNGA3 + CNGB3; is in large part located in the cell membrane at 37 and 27 degrees Celsius. 4 PublicationsCorresponds to variant dbSNP:rs104893617EnsemblClinVar.1
Natural variantiVAR_047599548G → R in ACHM2. 1 PublicationCorresponds to variant dbSNP:rs781227859Ensembl.1
Natural variantiVAR_010909557G → R in ACHM2; the K(1/2) value is shifted toward a higher cGMP concentration by a factor of 3.0; no positive influence of the CNGB3 subunit in the cGMP sensitivity is observed; average cGMP maximum current is decreased to half of the mean wild-type value for the mutant CNGA3 + CNGB3. 3 PublicationsCorresponds to variant dbSNP:rs104893615EnsemblClinVar.1
Natural variantiVAR_047600563R → H in ACHM2; mutant CNGA3 alone or together with the CNGB3 subunit exhibit an increase in apparent affinity for cGMP and an increase in the relative agonist efficacy of cAMP compared with cGMP; cell surface expression levels is significantly reduced. 2 PublicationsCorresponds to variant dbSNP:rs552069173EnsemblClinVar.1
Natural variantiVAR_047601565T → M in ACHM2. 2 PublicationsCorresponds to variant dbSNP:rs201747279Ensembl.1
Natural variantiVAR_047602569R → H in ACHM2. 3 PublicationsCorresponds to variant dbSNP:rs201782746Ensembl.1
Natural variantiVAR_071450570S → N Probable disease-associated mutation found in patients with cone-rod dystrophy. 1 Publication1
Natural variantiVAR_047603573Y → C in ACHM2. 1 Publication1
Natural variantiVAR_047604590E → K in ACHM2; also found in patients with cone-rod dystrophy; the dose-response relationship for cGMP-activation is shifted toward a lower cGMP concentration. 3 PublicationsCorresponds to variant dbSNP:rs763041373Ensembl.1
Natural variantiVAR_047605593E → K in ACHM2. 1 PublicationCorresponds to variant dbSNP:rs774676415EnsemblClinVar.1
Natural variantiVAR_071451646R → H1 PublicationCorresponds to variant dbSNP:rs141577844Ensembl.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_0570751 – 71MAKIN…GQGIA → METRGLADSGQGSFTGQGIA RFGRIQKKSQPEKVVRAASR GRPLIGWTQWCAEDGGDESE MALAGSPGCSSGPQG in isoform 3. 1 PublicationAdd BLAST71
Alternative sequenceiVSP_042525132 – 150SAWPL…NTEEE → R in isoform 2. 1 PublicationAdd BLAST19

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF065314 mRNA Translation: AAC17440.1
AK131300 mRNA Translation: BAD18468.1
AC092675 Genomic DNA Translation: AAY24181.1
BC096298 mRNA Translation: AAH96298.1
BC096299 mRNA Translation: AAH96299.1
BC096300 mRNA Translation: AAH96300.1
S76069 Genomic DNA Translation: AAD14208.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS2034.1 [Q16281-1]
CCDS42719.1 [Q16281-2]

Protein sequence database of the Protein Information Resource

More...
PIRi
I78560
S74179

NCBI Reference Sequences

More...
RefSeqi
NP_001073347.1, NM_001079878.1 [Q16281-2]
NP_001289.1, NM_001298.2 [Q16281-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000272602; ENSP00000272602; ENSG00000144191 [Q16281-1]
ENST00000393504; ENSP00000377140; ENSG00000144191 [Q16281-1]
ENST00000409937; ENSP00000386761; ENSG00000144191 [Q16281-3]
ENST00000436404; ENSP00000410070; ENSG00000144191 [Q16281-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
1261

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:1261

UCSC genome browser

More...
UCSCi
uc002syt.4 human [Q16281-1]

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_references_section">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 CNGA3 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF065314 mRNA Translation: AAC17440.1
AK131300 mRNA Translation: BAD18468.1
AC092675 Genomic DNA Translation: AAY24181.1
BC096298 mRNA Translation: AAH96298.1
BC096299 mRNA Translation: AAH96299.1
BC096300 mRNA Translation: AAH96300.1
S76069 Genomic DNA Translation: AAD14208.1
CCDSiCCDS2034.1 [Q16281-1]
CCDS42719.1 [Q16281-2]
PIRiI78560
S74179
RefSeqiNP_001073347.1, NM_001079878.1 [Q16281-2]
NP_001289.1, NM_001298.2 [Q16281-1]

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
3SWYX-ray1.90A/B/C626-669[»]
SMRiQ16281
ModBaseiSearch...

Protein-protein interaction databases

BioGridi107661, 28 interactors
IntActiQ16281, 27 interactors
STRINGi9606.ENSP00000377140

Chemistry databases

GuidetoPHARMACOLOGYi396

Protein family/group databases

TCDBi1.A.1.5.12 the voltage-gated ion channel (vic) superfamily

PTM databases

iPTMnetiQ16281
PhosphoSitePlusiQ16281

Polymorphism and mutation databases

BioMutaiCNGA3
DMDMi13959682

Proteomic databases

MassIVEiQ16281
PaxDbiQ16281
PeptideAtlasiQ16281
PRIDEiQ16281
ProteomicsDBi20054
60848 [Q16281-1]
60849 [Q16281-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000272602; ENSP00000272602; ENSG00000144191 [Q16281-1]
ENST00000393504; ENSP00000377140; ENSG00000144191 [Q16281-1]
ENST00000409937; ENSP00000386761; ENSG00000144191 [Q16281-3]
ENST00000436404; ENSP00000410070; ENSG00000144191 [Q16281-2]
GeneIDi1261
KEGGihsa:1261
UCSCiuc002syt.4 human [Q16281-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
1261
DisGeNETi1261

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CNGA3
GeneReviewsiCNGA3
HGNCiHGNC:2150 CNGA3
HPAiCAB079025
HPA049378
MalaCardsiCNGA3
MIMi216900 phenotype
600053 gene
neXtProtiNX_Q16281
OpenTargetsiENSG00000144191
Orphaneti49382 Achromatopsia
1872 Cone rod dystrophy
PharmGKBiPA26660

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0500 Eukaryota
ENOG410YWWI LUCA
GeneTreeiENSGT00940000158737
HOGENOMiHOG000007898
InParanoidiQ16281
KOiK04950
OMAiFYNWCML
OrthoDBi1073751at2759
PhylomeDBiQ16281
TreeFamiTF319048

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Cyclic_nucleotide-gated_channel_alpha_3

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

More...
GenomeRNAii
1261

Pharos

More...
Pharosi
Q16281

Protein Ontology

More...
PROi
PR:Q16281

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000144191 Expressed in 59 organ(s), highest expression level in adenohypophysis
GenevisibleiQ16281 HS

Family and domain databases

CDDicd00038 CAP_ED, 1 hit
Gene3Di2.60.120.10, 1 hit
InterProiView protein in InterPro
IPR032406 CLZ_dom
IPR018490 cNMP-bd-like
IPR018488 cNMP-bd_CS
IPR000595 cNMP-bd_dom
IPR005821 Ion_trans_dom
IPR014710 RmlC-like_jellyroll
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 nameiCNGA3_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: Q16281
Secondary accession number(s): E9PF93
, Q4VAP7, Q53RD2, Q6ZNA7, Q9UP64
<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: November 1, 1997
Last sequence update: May 4, 2001
Last modified: September 18, 2019
This is version 186 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  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
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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