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Entry version 167 (13 Feb 2019)
Sequence version 2 (01 Sep 2009)
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Protein

Cyclic nucleotide-gated cation channel beta-1

Gene

CNGB1

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

Annotation score:5 out of 5

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

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

Subunit of cyclic nucleotide-gated (CNG) channels, nonselective cation channels, which play important roles in both visual and olfactory signal transduction. When associated with CNGA1, it is involved in the regulation of ion flow into the rod photoreceptor outer segment (ROS), in response to light-induced alteration of the levels of intracellular cGMP.
Isoform GARP2 is a high affinity rod photoreceptor phosphodiesterase (PDE6)-binding protein that modulates its catalytic properties: it is a regulator of spontaneous activation of rod PDE6, thereby serving to lower rod photoreceptor 'dark noise' and allowing these sensory cells to operate at the single photon detection limit.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ 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 sitei1030cAMPSequence analysis1
Binding sitei1042cAMPSequence analysis1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ 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 bindingi970 – 1109cAMPBy similarityAdd BLAST140

<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, Olfaction, Sensory transduction, Transport, Vision
LigandcAMP, cAMP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-2485179 Activation of the phototransduction cascade
R-HSA-2514859 Inactivation, recovery and regulation of the phototransduction cascade
R-HSA-5620916 VxPx cargo-targeting to cilium

Protein family/group databases

Transport Classification Database

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

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

<p>This subsection of the <a href="http://www.uniprot.org/help/names_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-1
Alternative name(s):
Cyclic nucleotide-gated cation channel 4
Short name:
CNG channel 4
Short name:
CNG-4
Short name:
CNG4
Cyclic nucleotide-gated cation channel gamma
Cyclic nucleotide-gated cation channel modulatory subunit
Cyclic nucleotide-gated channel beta-1
Short name:
CNG channel beta-1
Glutamic acid-rich protein
Short name:
GARP
<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:CNGB1
Synonyms:CNCG2, CNCG3L, CNCG4, RCNC2
<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 16

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000070729.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:2151 CNGB1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
600724 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q14028

<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 domaini343 – 656CytoplasmicSequence analysisAdd BLAST314
<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>Transmembranei657 – 675Helical; Name=H1Sequence analysisAdd BLAST19
Topological domaini676 – 689ExtracellularSequence analysisAdd BLAST14
Transmembranei690 – 708Helical; Name=H2Sequence analysisAdd BLAST19
Topological domaini709 – 733CytoplasmicSequence analysisAdd BLAST25
Transmembranei734 – 753Helical; Name=H3Sequence analysisAdd BLAST20
Topological domaini754 – 790ExtracellularSequence analysisAdd BLAST37
Transmembranei791 – 813Helical; Name=H4Sequence analysisAdd BLAST23
Topological domaini814 – 857CytoplasmicSequence analysisAdd BLAST44
Transmembranei858 – 877Helical; Name=H5Sequence analysisAdd BLAST20
Topological domaini878 – 961ExtracellularSequence analysisAdd BLAST84
Transmembranei962 – 982Helical; Name=H6Sequence analysisAdd BLAST21
Topological domaini983 – 1251CytoplasmicSequence analysisAdd BLAST269

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

Retinitis pigmentosa 45 (RP45)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
See also OMIM:613767
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_060491993G → V in RP45. 1 PublicationCorresponds to variant dbSNP:rs121918532EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi568L → E: Loss of calcium/calmodulin modulation. 1 Publication1

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNET

More...
DisGeNETi
1258

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

More...
GeneReviewsi
CNGB1

MalaCards human disease database

More...
MalaCardsi
CNGB1
MIMi613767 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000070729

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

More...
Orphaneti
791 Retinitis pigmentosa

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26662

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CNGB1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
257051004

<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_00002193231 – 1251Cyclic nucleotide-gated cation channel beta-1Add BLAST1251

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q14028

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

More...
PaxDbi
Q14028

PeptideAtlas

More...
PeptideAtlasi
Q14028

PRoteomics IDEntifications database

More...
PRIDEi
Q14028

ProteomicsDB human proteome resource

More...
ProteomicsDBi
59797
59798 [Q14028-2]
59799 [Q14028-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q14028

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

More...
PhosphoSitePlusi
Q14028

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000070729 Expressed in 137 organ(s), highest expression level in myocardium

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q14028 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q14028 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA039159
HPA060355

<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 CNGA1 and one CNGB1 modulatory subunits.By similarity

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

WithEntry#Exp.IntActNotes
GRB14Q5ICW42EBI-7959609,EBI-7639273From Bos taurus.

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
107658, 2 interactors

Protein interaction database and analysis system

More...
IntActi
Q14028, 2 interactors

Molecular INTeraction database

More...
MINTi
Q14028

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000251102

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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q14028

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

More...
SMRi
Q14028

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

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi568 – 578IQ-likeAdd BLAST11

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi23 – 63Glu-richAdd BLAST41
Compositional biasi171 – 252Pro-richAdd BLAST82
Compositional biasi351 – 371Poly-GluAdd BLAST21

<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

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG051038

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q14028

KEGG Orthology (KO)

More...
KOi
K04952

Identification of Orthologs from Complete Genome Data

More...
OMAi
TDKKDMR

Database of Orthologous Groups

More...
OrthoDBi
1073751at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q14028

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
IPR032944 CNGB1
IPR018490 cNMP-bd-like
IPR018488 cNMP-bd_CS
IPR000595 cNMP-bd_dom
IPR014710 RmlC-like_jellyroll

The PANTHER Classification System

More...
PANTHERi
PTHR10217:SF386 PTHR10217:SF386, 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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)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 4 <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
Note: There is no evidence for an ortholog to bovine GARP1 in the human genome.

This entry has 4 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform RCNC2B (identifier: Q14028-1) [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
MLGWVQRVLP QPPGTPRKTK MQEEEEVEPE PEMEAEVEPE PNPEEAETES
60 70 80 90 100
ESMPPEESFK EEEVAVADPS PQETKEAALT STISLRAQGA EISEMNSPSR
110 120 130 140 150
RVLTWLMKGV EKVIPQPVHS ITEDPAQILG HGSTGDTGCT DEPNEALEAQ
160 170 180 190 200
DTRPGLRLLL WLEQNLERVL PQPPKSSEVW RDEPAVATGA ASDPAPPGRP
210 220 230 240 250
QEMGPKLQAR ETPSLPTPIP LQPKEEPKEA PAPEPQPGSQ AQTSSLPPTR
260 270 280 290 300
DPARLVAWVL HRLEMALPQP VLHGKIGEQE PDSPGICDVQ TISILPGGQV
310 320 330 340 350
EPDLVLEEVE PPWEDAHQDV STSPQGTEVV PAYEEENKAV EKMPRELSRI
360 370 380 390 400
EEEKEDEEEE EEEEEEEEEE EVTEVLLDSC VVSQVGVGQS EEDGTRPQST
410 420 430 440 450
SDQKLWEEVG EEAKKEAEEK AKEEAEEVAE EEAEKEPQDW AETKEEPEAE
460 470 480 490 500
AEAASSGVPA TKQHPEVQVE DTDADSCPLM AEENPPSTVL PPPSPAKSDT
510 520 530 540 550
LIVPSSASGT HRKKLPSEDD EAEELKALSP AESPVVAWSD PTTPKDTDGQ
560 570 580 590 600
DRAASTASTN SAIINDRLQE LVKLFKERTE KVKEKLIDPD VTSDEESPKP
610 620 630 640 650
SPAKKAPEPA PDTKPAEAEP VEEEHYCDML CCKFKHRPWK KYQFPQSIDP
660 670 680 690 700
LTNLMYVLWL FFVVMAWNWN CWLIPVRWAF PYQTPDNIHH WLLMDYLCDL
710 720 730 740 750
IYFLDITVFQ TRLQFVRGGD IITDKKDMRN NYLKSRRFKM DLLSLLPLDF
760 770 780 790 800
LYLKVGVNPL LRLPRCLKYM AFFEFNSRLE SILSKAYVYR VIRTTAYLLY
810 820 830 840 850
SLHLNSCLYY WASAYQGLGS THWVYDGVGN SYIRCYYFAV KTLITIGGLP
860 870 880 890 900
DPKTLFEIVF QLLNYFTGVF AFSVMIGQMR DVVGAATAGQ TYYRSCMDST
910 920 930 940 950
VKYMNFYKIP KSVQNRVKTW YEYTWHSQGM LDESELMVQL PDKMRLDLAI
960 970 980 990 1000
DVNYNIVSKV ALFQGCDRQM IFDMLKRLRS VVYLPNDYVC KKGEIGREMY
1010 1020 1030 1040 1050
IIQAGQVQVL GGPDGKSVLV TLKAGSVFGE ISLLAVGGGN RRTANVVAHG
1060 1070 1080 1090 1100
FTNLFILDKK DLNEILVHYP ESQKLLRKKA RRMLRSNNKP KEEKSVLILP
1110 1120 1130 1140 1150
PRAGTPKLFN AALAMTGKMG GKGAKGGKLA HLRARLKELA ALEAAAKQQE
1160 1170 1180 1190 1200
LVEQAKSSQD VKGEEGSAAP DQHTHPKEAA TDPPAPRTPP EPPGSPPSSP
1210 1220 1230 1240 1250
PPASLGRPEG EEEGPAEPEE HSVRICMSPG PEPGEQILSV KMPEEREEKA

E
Length:1,251
Mass (Da):139,678
Last modified:September 1, 2009 - 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:i7A45CB399EB2B20C
GO
Isoform RCNC2A (identifier: Q14028-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-628: Missing.

Show »
Length:623
Mass (Da):70,901
Checksum:i19FD335A37A9BD8A
GO
Isoform GARP2 (identifier: Q14028-3) [UniParc]FASTAAdd to basket
Also known as: GARP

The sequence of this isoform differs from the canonical sequence as follows:
     292-299: ISILPGGQ → RVMGAGGL
     300-1251: Missing.

Note: In the rod cells, the CNGB1 locus encodes the cyclic nucleotide-gated cation channel beta-1 subunit and several glutamic-acid-rich proteins (GARPs).
Show »
Length:299
Mass (Da):32,531
Checksum:i1B07296CA8ECB655
GO
Isoform 4 (identifier: Q14028-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     189-194: Missing.

Show »
Length:1,245
Mass (Da):139,179
Checksum:iE99F22376984493D
GO

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

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BQW3H3BQW3_HUMAN
Cyclic nucleotide-gated cation chan...
CNGB1
126Annotation 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>
A0A2R8Y6Y0A0A2R8Y6Y0_HUMAN
Cyclic nucleotide-gated cation chan...
CNGB1
112Annotation 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>
H3BQC3H3BQC3_HUMAN
Cyclic nucleotide-gated cation chan...
CNGB1
214Annotation 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>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti128I → V in AC010543 (PubMed:15616553).Curated1
Sequence conflicti1148 – 1149QQ → HE in AAB63387 (PubMed:7590744).Curated2
Sequence conflicti1148 – 1149QQ → HE in AAA65619 (PubMed:7682292).Curated2
Sequence conflicti1148 – 1149QQ → HE in AAA65620 (PubMed:7682292).Curated2
Sequence conflicti1207 – 1208RP → SC in AAB63387 (PubMed:7590744).Curated2
Sequence conflicti1207 – 1208RP → SC in AAA65619 (PubMed:7682292).Curated2
Sequence conflicti1207 – 1208RP → SC in AAA65620 (PubMed:7682292).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_058691100R → H3 PublicationsCorresponds to variant dbSNP:rs13336595EnsemblClinVar.1
Natural variantiVAR_059225479L → I. Corresponds to variant dbSNP:rs2303783EnsemblClinVar.1
Natural variantiVAR_059226535V → A. Corresponds to variant dbSNP:rs12927214EnsemblClinVar.1
Natural variantiVAR_059227731N → K. Corresponds to variant dbSNP:rs376270Ensembl.1
Natural variantiVAR_059228745L → I. Corresponds to variant dbSNP:rs10459809EnsemblClinVar.1
Natural variantiVAR_059229911K → R. Corresponds to variant dbSNP:rs2303785EnsemblClinVar.1
Natural variantiVAR_059230961A → S. Corresponds to variant dbSNP:rs16942445EnsemblClinVar.1
Natural variantiVAR_060491993G → V in RP45. 1 PublicationCorresponds to variant dbSNP:rs121918532EnsemblClinVar.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_0011101 – 628Missing in isoform RCNC2A. CuratedAdd BLAST628
Alternative sequenceiVSP_053421189 – 194Missing in isoform 4. Curated6
Alternative sequenceiVSP_037921292 – 299ISILPGGQ → RVMGAGGL in isoform GARP2. 1 Publication8
Alternative sequenceiVSP_037922300 – 1251Missing in isoform GARP2. 1 PublicationAdd BLAST952

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
L15296 Genomic DNA Translation: AAA65620.1
L15297 Genomic DNA Translation: AAA65619.1
U18945 mRNA Translation: AAA91633.1
U58837 mRNA Translation: AAB63387.1
AF042498 mRNA Translation: AAC04830.1
AC010543 Genomic DNA No translation available.
CH471092 Genomic DNA Translation: EAW82957.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS42169.1 [Q14028-1]
CCDS45495.1 [Q14028-3]
CCDS67042.1 [Q14028-4]

Protein sequence database of the Protein Information Resource

More...
PIRi
A57652
S32538
S69275

NCBI Reference Sequences

More...
RefSeqi
NP_001129111.1, NM_001135639.1 [Q14028-3]
NP_001273059.1, NM_001286130.1 [Q14028-4]
NP_001288.3, NM_001297.4 [Q14028-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.147062

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000251102; ENSP00000251102; ENSG00000070729 [Q14028-1]
ENST00000311183; ENSP00000311670; ENSG00000070729 [Q14028-3]
ENST00000564448; ENSP00000454633; ENSG00000070729 [Q14028-4]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
1258

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:1258

UCSC genome browser

More...
UCSCi
uc002emt.3 human [Q14028-1]

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
L15296 Genomic DNA Translation: AAA65620.1
L15297 Genomic DNA Translation: AAA65619.1
U18945 mRNA Translation: AAA91633.1
U58837 mRNA Translation: AAB63387.1
AF042498 mRNA Translation: AAC04830.1
AC010543 Genomic DNA No translation available.
CH471092 Genomic DNA Translation: EAW82957.1
CCDSiCCDS42169.1 [Q14028-1]
CCDS45495.1 [Q14028-3]
CCDS67042.1 [Q14028-4]
PIRiA57652
S32538
S69275
RefSeqiNP_001129111.1, NM_001135639.1 [Q14028-3]
NP_001273059.1, NM_001286130.1 [Q14028-4]
NP_001288.3, NM_001297.4 [Q14028-1]
UniGeneiHs.147062

3D structure databases

ProteinModelPortaliQ14028
SMRiQ14028
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107658, 2 interactors
IntActiQ14028, 2 interactors
MINTiQ14028
STRINGi9606.ENSP00000251102

Protein family/group databases

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

PTM databases

iPTMnetiQ14028
PhosphoSitePlusiQ14028

Polymorphism and mutation databases

BioMutaiCNGB1
DMDMi257051004

Proteomic databases

EPDiQ14028
PaxDbiQ14028
PeptideAtlasiQ14028
PRIDEiQ14028
ProteomicsDBi59797
59798 [Q14028-2]
59799 [Q14028-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
1258
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000251102; ENSP00000251102; ENSG00000070729 [Q14028-1]
ENST00000311183; ENSP00000311670; ENSG00000070729 [Q14028-3]
ENST00000564448; ENSP00000454633; ENSG00000070729 [Q14028-4]
GeneIDi1258
KEGGihsa:1258
UCSCiuc002emt.3 human [Q14028-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
1258
DisGeNETi1258
EuPathDBiHostDB:ENSG00000070729.13

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CNGB1
GeneReviewsiCNGB1

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0038536
HGNCiHGNC:2151 CNGB1
HPAiHPA039159
HPA060355
MalaCardsiCNGB1
MIMi600724 gene
613767 phenotype
neXtProtiNX_Q14028
OpenTargetsiENSG00000070729
Orphaneti791 Retinitis pigmentosa
PharmGKBiPA26662

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0499 Eukaryota
ENOG410ZJ5U LUCA
GeneTreeiENSGT00940000154824
HOGENOMiHOG000231425
HOVERGENiHBG051038
InParanoidiQ14028
KOiK04952
OMAiTDKKDMR
OrthoDBi1073751at2759
PhylomeDBiQ14028
TreeFamiTF318250

Enzyme and pathway databases

ReactomeiR-HSA-2485179 Activation of the phototransduction cascade
R-HSA-2514859 Inactivation, recovery and regulation of the phototransduction cascade
R-HSA-5620916 VxPx cargo-targeting to cilium

Miscellaneous databases

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

More...
ChiTaRSi
CNGB1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
CNGB1

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

More...
GenomeRNAii
1258

Protein Ontology

More...
PROi
PR:Q14028

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000070729 Expressed in 137 organ(s), highest expression level in myocardium
ExpressionAtlasiQ14028 baseline and differential
GenevisibleiQ14028 HS

Family and domain databases

CDDicd00038 CAP_ED, 1 hit
Gene3Di2.60.120.10, 1 hit
InterProiView protein in InterPro
IPR032944 CNGB1
IPR018490 cNMP-bd-like
IPR018488 cNMP-bd_CS
IPR000595 cNMP-bd_dom
IPR014710 RmlC-like_jellyroll
PANTHERiPTHR10217:SF386 PTHR10217:SF386, 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

More...
ProtoNeti
Search...

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

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCNGB1_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: Q14028
Secondary accession number(s): H3BN09
, O43636, Q13059, Q14029, Q9UMG2
<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: September 1, 2009
Last modified: February 13, 2019
This is version 167 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 polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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