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Entry version 154 (08 May 2019)
Sequence version 2 (02 Nov 2010)
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Protein

Cyclic nucleotide-gated cation channel beta-3

Gene

CNGB3

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 cGMP which leads to an opening of the cation channel and thereby causing a depolarization of rod 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 efficiency of the channel when coexpressed with CNGA3 (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 sitei592cGMPBy similarity1
Binding sitei604cGMPBy similarity1

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 bindingi532 – 676cGMPBy similarityAdd BLAST145

<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

<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 beta-3
Alternative name(s):
Cone photoreceptor cGMP-gated channel subunit beta
Cyclic nucleotide-gated cation channel modulatory subunit
Cyclic nucleotide-gated channel beta-3
Short name:
CNG channel beta-3
<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:CNGB3
<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 8

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:2153 CNGB3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605080 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NQW8

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_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 – 216CytoplasmicSequence analysisAdd BLAST216
<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>Transmembranei217 – 237Helical; Name=H1Sequence analysisAdd BLAST21
Topological domaini238 – 250ExtracellularSequence analysisAdd BLAST13
Transmembranei251 – 271Helical; Name=H2Sequence analysisAdd BLAST21
Topological domaini272 – 302CytoplasmicSequence analysisAdd BLAST31
Transmembranei303 – 323Helical; Name=H3Sequence analysisAdd BLAST21
Topological domaini324 – 359ExtracellularSequence analysisAdd BLAST36
Transmembranei360 – 380Helical; Name=H4Sequence analysisAdd BLAST21
Topological domaini381 – 417CytoplasmicSequence analysisAdd BLAST37
Transmembranei418 – 438Helical; Name=H5Sequence analysisAdd BLAST21
Topological domaini439 – 504ExtracellularSequence analysisAdd BLAST66
Transmembranei505 – 525Helical; Name=H6Sequence analysisAdd BLAST21
Topological domaini526 – 809CytoplasmicSequence analysisAdd BLAST284

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

Stargardt disease 1 (STGD1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina.
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_047615469Y → D in STGD1. 1 PublicationCorresponds to variant dbSNP:rs35365413EnsemblClinVar.1
Achromatopsia 3 (ACHM3)6 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. Achromatopsia type 3 patients manifest severe myopia.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_047608107G → R in ACHM3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs146688972Ensembl.1
Natural variantiVAR_047609148K → E in ACHM3. 1 PublicationCorresponds to variant dbSNP:rs369138501Ensembl.1
Natural variantiVAR_047610156S → F in ACHM3. 1 PublicationCorresponds to variant dbSNP:rs139207764EnsemblClinVar.1
Natural variantiVAR_047611199E → K in ACHM3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs114305748EnsemblClinVar.1
Natural variantiVAR_025524203R → Q in ACHM3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs16916632EnsemblClinVar.1
Natural variantiVAR_047612309P → L in ACHM3. 1 Publication1
Natural variantiVAR_018111435S → F in ACHM3. 3 PublicationsCorresponds to variant dbSNP:rs121918344EnsemblClinVar.1
Natural variantiVAR_047614466M → T in ACHM3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs35010099EnsemblClinVar.1
Natural variantiVAR_047616494D → N in ACHM3; unknown pathological significance. 1 Publication1
Natural variantiVAR_047617513D → Y in ACHM3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs765884344Ensembl.1
Natural variantiVAR_047618525F → N in ACHM3; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_047619558G → C in ACHM3. 1 PublicationCorresponds to variant dbSNP:rs749413012EnsemblClinVar.1
Natural variantiVAR_047620595L → F in ACHM3. 1 Publication1
Natural variantiVAR_047621672T → P in ACHM3; unknown pathological significance. 1 Publication1
Natural variantiVAR_047622720 – 726Missing in ACHM3. 1 Publication7

Keywords - Diseasei

Disease mutation, Stargardt disease

Organism-specific databases

DisGeNET

More...
DisGeNETi
54714

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

More...
GeneReviewsi
CNGB3

MalaCards human disease database

More...
MalaCardsi
CNGB3
MIMi248200 phenotype
262300 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000170289

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

More...
Orphaneti
49382 Achromatopsia
1871 Progressive cone dystrophy
827 Stargardt disease

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26663

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CNGB3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
311033366

<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_00002193201 – 809Cyclic nucleotide-gated cation channel beta-3Add BLAST809

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi468N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9NQW8

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

More...
PaxDbi
Q9NQW8

PeptideAtlas

More...
PeptideAtlasi
Q9NQW8

PRoteomics IDEntifications database

More...
PRIDEi
Q9NQW8

ProteomicsDB human proteome resource

More...
ProteomicsDBi
82213
82214 [Q9NQW8-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NQW8

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

More...
PhosphoSitePlusi
Q9NQW8

<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

Expressed specifically in the retina.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000170289 Expressed in 101 organ(s), highest expression level in pigmented layer of retina

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9NQW8 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9NQW8 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA057244

<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.2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
120106, 1 interactor

Protein interaction database and analysis system

More...
IntActi
Q9NQW8, 1 interactor

Molecular INTeraction database

More...
MINTi
Q9NQW8

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000316605

<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
Q9NQW8

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

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

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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0499 Eukaryota
ENOG410ZJ5U LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000154824

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231425

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9NQW8

KEGG Orthology (KO)

More...
KOi
K04953

Identification of Orthologs from Complete Genome Data

More...
OMAi
CDIIYLC

Database of Orthologous Groups

More...
OrthoDBi
1087250at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NQW8

TreeFam database of animal gene trees

More...
TreeFami
TF318250

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
IPR032943 CNG6
IPR018490 cNMP-bd-like
IPR018488 cNMP-bd_CS
IPR000595 cNMP-bd_dom
IPR014710 RmlC-like_jellyroll

The PANTHER Classification System

More...
PANTHERi
PTHR45638:SF8 PTHR45638:SF8, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00027 cNMP_binding, 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_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 (2+)i

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

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 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NQW8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MFKSLTKVNK VKPIGENNEN EQSSRRNEEG SHPSNQSQQT TAQEENKGEE
60 70 80 90 100
KSLKTKSTPV TSEEPHTNIQ DKLSKKNSSG DLTTNPDPQN AAEPTGTVPE
110 120 130 140 150
QKEMDPGKEG PNSPQNKPPA APVINEYADA QLHNLVKRMR QRTALYKKKL
160 170 180 190 200
VEGDLSSPEA SPQTAKPTAV PPVKESDDKP TEHYYRLLWF KVKKMPLTEY
210 220 230 240 250
LKRIKLPNSI DSYTDRLYLL WLLLVTLAYN WNCCFIPLRL VFPYQTADNI
260 270 280 290 300
HYWLIADIIC DIIYLYDMLF IQPRLQFVRG GDIIVDSNEL RKHYRTSTKF
310 320 330 340 350
QLDVASIIPF DICYLFFGFN PMFRANRMLK YTSFFEFNHH LESIMDKAYI
360 370 380 390 400
YRVIRTTGYL LFILHINACV YYWASNYEGI GTTRWVYDGE GNEYLRCYYW
410 420 430 440 450
AVRTLITIGG LPEPQTLFEI VFQLLNFFSG VFVFSSLIGQ MRDVIGAATA
460 470 480 490 500
NQNYFRACMD DTIAYMNNYS IPKLVQKRVR TWYEYTWDSQ RMLDESDLLK
510 520 530 540 550
TLPTTVQLAL AIDVNFSIIS KVDLFKGCDT QMIYDMLLRL KSVLYLPGDF
560 570 580 590 600
VCKKGEIGKE MYIIKHGEVQ VLGGPDGTKV LVTLKAGSVF GEISLLAAGG
610 620 630 640 650
GNRRTANVVA HGFANLLTLD KKTLQEILVH YPDSERILMK KARVLLKQKA
660 670 680 690 700
KTAEATPPRK DLALLFPPKE ETPKLFKTLL GGTGKASLAR LLKLKREQAA
710 720 730 740 750
QKKENSEGGE EEGKENEDKQ KENEDKQKEN EDKGKENEDK DKGREPEEKP
760 770 780 790 800
LDRPECTASP IAVEEEPHSV RRTVLPRGTS RQSLIISMAP SAEGGEEVLT

IEVKEKAKQ
Length:809
Mass (Da):92,167
Last modified:November 2, 2010 - 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:iD16EE71A6149BDB5
GO
Isoform 2 (identifier: Q9NQW8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     590-594: Missing.

Note: No experimental confirmation available.
Show »
Length:804
Mass (Da):91,633
Checksum:i803A5D65F2CEBDE2
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YAZ4H0YAZ4_HUMAN
Cyclic nucleotide-gated cation chan...
CNGB3
111Annotation 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 AAF80179 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04760625R → H1 PublicationCorresponds to variant dbSNP:rs141098074Ensembl.1
Natural variantiVAR_04760727N → S1 PublicationCorresponds to variant dbSNP:rs35807406EnsemblClinVar.1
Natural variantiVAR_047608107G → R in ACHM3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs146688972Ensembl.1
Natural variantiVAR_047609148K → E in ACHM3. 1 PublicationCorresponds to variant dbSNP:rs369138501Ensembl.1
Natural variantiVAR_047610156S → F in ACHM3. 1 PublicationCorresponds to variant dbSNP:rs139207764EnsemblClinVar.1
Natural variantiVAR_047611199E → K in ACHM3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs114305748EnsemblClinVar.1
Natural variantiVAR_025524203R → Q in ACHM3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs16916632EnsemblClinVar.1
Natural variantiVAR_018109234C → W1 PublicationCorresponds to variant dbSNP:rs6471482EnsemblClinVar.1
Natural variantiVAR_018110298T → P2 PublicationsCorresponds to variant dbSNP:rs4961206EnsemblClinVar.1
Natural variantiVAR_024418307I → V2 PublicationsCorresponds to variant dbSNP:rs13265557EnsemblClinVar.1
Natural variantiVAR_047612309P → L in ACHM3. 1 Publication1
Natural variantiVAR_047613403R → Q Found in macular degeneration; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs147876778EnsemblClinVar.1
Natural variantiVAR_018111435S → F in ACHM3. 3 PublicationsCorresponds to variant dbSNP:rs121918344EnsemblClinVar.1
Natural variantiVAR_047614466M → T in ACHM3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs35010099EnsemblClinVar.1
Natural variantiVAR_047615469Y → D in STGD1. 1 PublicationCorresponds to variant dbSNP:rs35365413EnsemblClinVar.1
Natural variantiVAR_047616494D → N in ACHM3; unknown pathological significance. 1 Publication1
Natural variantiVAR_047617513D → Y in ACHM3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs765884344Ensembl.1
Natural variantiVAR_047618525F → N in ACHM3; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_047619558G → C in ACHM3. 1 PublicationCorresponds to variant dbSNP:rs749413012EnsemblClinVar.1
Natural variantiVAR_047620595L → F in ACHM3. 1 Publication1
Natural variantiVAR_047621672T → P in ACHM3; unknown pathological significance. 1 Publication1
Natural variantiVAR_047622720 – 726Missing in ACHM3. 1 Publication7
Natural variantiVAR_025525750P → S. Corresponds to variant dbSNP:rs3735971EnsemblClinVar.1
Natural variantiVAR_018112755E → G2 PublicationsCorresponds to variant dbSNP:rs3735972EnsemblClinVar.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_009742590 – 594Missing in isoform 2. 1 Publication5

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

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DDBJi
Links Updated
AF272900 mRNA Translation: AAF86274.1
AC013751 Genomic DNA No translation available.
AC090572 Genomic DNA No translation available.
AF228520 mRNA Translation: AAF80179.1 Different initiation.

The Consensus CDS (CCDS) project

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CCDSi
CCDS6244.1 [Q9NQW8-1]

NCBI Reference Sequences

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RefSeqi
NP_061971.3, NM_019098.4 [Q9NQW8-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000320005; ENSP00000316605; ENSG00000170289 [Q9NQW8-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
54714

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:54714

UCSC genome browser

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UCSCi
uc003ydx.3 human [Q9NQW8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF272900 mRNA Translation: AAF86274.1
AC013751 Genomic DNA No translation available.
AC090572 Genomic DNA No translation available.
AF228520 mRNA Translation: AAF80179.1 Different initiation.
CCDSiCCDS6244.1 [Q9NQW8-1]
RefSeqiNP_061971.3, NM_019098.4 [Q9NQW8-1]

3D structure databases

SMRiQ9NQW8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120106, 1 interactor
IntActiQ9NQW8, 1 interactor
MINTiQ9NQW8
STRINGi9606.ENSP00000316605

PTM databases

iPTMnetiQ9NQW8
PhosphoSitePlusiQ9NQW8

Polymorphism and mutation databases

BioMutaiCNGB3
DMDMi311033366

Proteomic databases

jPOSTiQ9NQW8
PaxDbiQ9NQW8
PeptideAtlasiQ9NQW8
PRIDEiQ9NQW8
ProteomicsDBi82213
82214 [Q9NQW8-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000320005; ENSP00000316605; ENSG00000170289 [Q9NQW8-1]
GeneIDi54714
KEGGihsa:54714
UCSCiuc003ydx.3 human [Q9NQW8-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
54714
DisGeNETi54714

GeneCards: human genes, protein and diseases

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GeneCardsi
CNGB3
GeneReviewsiCNGB3

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0034272
HGNCiHGNC:2153 CNGB3
HPAiHPA057244
MalaCardsiCNGB3
MIMi248200 phenotype
262300 phenotype
605080 gene
neXtProtiNX_Q9NQW8
OpenTargetsiENSG00000170289
Orphaneti49382 Achromatopsia
1871 Progressive cone dystrophy
827 Stargardt disease
PharmGKBiPA26663

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0499 Eukaryota
ENOG410ZJ5U LUCA
GeneTreeiENSGT00940000154824
HOGENOMiHOG000231425
InParanoidiQ9NQW8
KOiK04953
OMAiCDIIYLC
OrthoDBi1087250at2759
PhylomeDBiQ9NQW8
TreeFamiTF318250

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Cyclic_nucleotide_gated_channel_beta_3

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

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GenomeRNAii
54714

Protein Ontology

More...
PROi
PR:Q9NQW8

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000170289 Expressed in 101 organ(s), highest expression level in pigmented layer of retina
ExpressionAtlasiQ9NQW8 baseline and differential
GenevisibleiQ9NQW8 HS

Family and domain databases

CDDicd00038 CAP_ED, 1 hit
Gene3Di2.60.120.10, 1 hit
InterProiView protein in InterPro
IPR032943 CNG6
IPR018490 cNMP-bd-like
IPR018488 cNMP-bd_CS
IPR000595 cNMP-bd_dom
IPR014710 RmlC-like_jellyroll
PANTHERiPTHR45638:SF8 PTHR45638:SF8, 1 hit
PfamiView protein in Pfam
PF00027 cNMP_binding, 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

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ProtoNeti
Search...

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

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCNGB3_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: Q9NQW8
Secondary accession number(s): C9JA51, Q9NRE9
<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: March 29, 2004
Last sequence update: November 2, 2010
Last modified: May 8, 2019
This is version 154 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 8
    Human chromosome 8: 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
UniProt is an ELIXIR core data resource
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