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Protein

Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta

Gene

PDE6B

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

This protein participates in processes of transmission and amplification of the visual signal. Necessary for the formation of a functional phosphodiesterase holoenzyme.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

a divalent metal cationBy similarityNote: Binds 2 divalent metal cations per subunit. Site 1 may preferentially bind zinc ions, while site 2 has a preference for magnesium and/or manganese ions.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei557Proton donorBy similarity1
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi561Divalent metal cation 1By similarity1
Metal bindingi597Divalent metal cation 1By similarity1
Metal bindingi598Divalent metal cation 1By similarity1
Metal bindingi598Divalent metal cation 2By similarity1
Metal bindingi718Divalent metal cation 1By similarity1

<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

  • 3',5'-cyclic-GMP phosphodiesterase activity Source: BHF-UCL
  • metal ion binding Source: UniProtKB-KW

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 functionHydrolase
Biological processSensory transduction, Vision
LigandcGMP, Metal-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-4086398 Ca2+ pathway

<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:
Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta (EC:3.1.4.35)
Short name:
GMP-PDE beta
<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:PDE6B
Synonyms:PDEB
<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 4

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000133256.12

Human Gene Nomenclature Database

More...
HGNCi
HGNC:8786 PDE6B

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
180072 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P35913

<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; Source: COMPARTMENTS

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 40 (RP40)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
See also OMIM:613801
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_00928374R → C in RP40; autosomal recessive. Corresponds to variant dbSNP:rs144590560Ensembl.1
Natural variantiVAR_068361100R → H in RP40. 1 PublicationCorresponds to variant dbSNP:rs555600300EnsemblClinVar.1
Natural variantiVAR_009286219Y → H in RP40; autosomal recessive. Corresponds to variant dbSNP:rs62295357EnsemblClinVar.1
Natural variantiVAR_009287228L → H in RP40; autosomal recessive and autosomal dominant. 1 Publication1
Natural variantiVAR_009290527L → P in RP40; autosomal recessive. Corresponds to variant dbSNP:rs760766981EnsemblClinVar.1
Natural variantiVAR_009291535I → N in RP40; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs527236088EnsemblClinVar.1
Natural variantiVAR_009292552R → Q in RP40; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs751859807Ensembl.1
Natural variantiVAR_006050557H → Y in RP40; autosomal dominant. 1 PublicationCorresponds to variant dbSNP:rs121918581EnsemblClinVar.1
Natural variantiVAR_006051576G → D in RP40; autosomal recessive. 1 Publication1
Natural variantiVAR_006052699L → R in RP40; autosomal recessive. 1 Publication1
Natural variantiVAR_068362776D → N in RP40. 1 PublicationCorresponds to variant dbSNP:rs141563823EnsemblClinVar.1
Natural variantiVAR_009293854L → R in RP40; autosomal recessive. 1
Night blindness, congenital stationary, autosomal dominant 2 (CSNBAD2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia.
See also OMIM:163500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_009289258H → N in CSNBAD2. 1 PublicationCorresponds to variant dbSNP:rs121918582EnsemblClinVar.1

Keywords - Diseasei

Congenital stationary night blindness, Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNET

More...
DisGeNETi
5158

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

More...
GeneReviewsi
PDE6B

MalaCards human disease database

More...
MalaCardsi
PDE6B
MIMi163500 phenotype
613801 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000133256

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

More...
Orphaneti
215 Congenital stationary night blindness
791 Retinitis pigmentosa

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA33134

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3430880

Drug and drug target database

More...
DrugBanki
DB00201 Caffeine

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PDE6B

Domain mapping of disease mutations (DMDM)

More...
DMDMi
226693550

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedBy similarity
<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_00000233482 – 851Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit betaAdd BLAST850
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_0000023349852 – 854Removed in mature formBy similarity3

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylserineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi851S-geranylgeranyl cysteineBy similarity1

Keywords - PTMi

Acetylation, Lipoprotein, Prenylation

Proteomic databases

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

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PaxDbi
P35913

PeptideAtlas

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PeptideAtlasi
P35913

PRoteomics IDEntifications database

More...
PRIDEi
P35913

ProteomicsDB human proteome resource

More...
ProteomicsDBi
55162
55163 [P35913-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P35913

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

More...
PhosphoSitePlusi
P35913

<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
ENSG00000133256 Expressed in 122 organ(s), highest expression level in substantia nigra

CleanEx database of gene expression profiles

More...
CleanExi
HS_PDE6B

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P35913 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P35913 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA054148
HPA059929

<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

Oligomer composed of two catalytic chains (alpha and beta), an inhibitory chain (gamma) and the delta chain.

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
111184, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000420295

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P35913

<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
P35913

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini71 – 220GAF 1Add BLAST150
Domaini252 – 429GAF 2Add BLAST178
Domaini481 – 814PDEasePROSITE-ProRule annotationAdd BLAST334

<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

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3689 Eukaryota
ENOG410XRI7 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156471

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000007069

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG053539

KEGG Orthology (KO)

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KOi
K13756

Identification of Orthologs from Complete Genome Data

More...
OMAi
GVVKKFQ

Database of Orthologous Groups

More...
OrthoDBi
EOG091G01RK

Database for complete collections of gene phylogenies

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PhylomeDBi
P35913

TreeFam database of animal gene trees

More...
TreeFami
TF316499

Family and domain databases

Conserved Domains Database

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CDDi
cd00077 HDc, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.1300.10, 1 hit
3.30.450.40, 2 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR003018 GAF
IPR029016 GAF-like_dom_sf
IPR003607 HD/PDEase_dom
IPR023088 PDEase
IPR002073 PDEase_catalytic_dom
IPR036971 PDEase_catalytic_dom_sf
IPR023174 PDEase_CS

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01590 GAF, 2 hits
PF00233 PDEase_I, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00387 PDIESTERASE1

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00065 GAF, 2 hits
SM00471 HDc, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00126 PDEASE_I_1, 1 hit
PS51845 PDEASE_I_2, 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 (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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

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

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

Isoform 1 (identifier: P35913-1) [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
MSLSEEQARS FLDQNPDFAR QYFGKKLSPE NVAAACEDGC PPDCDSLRDL
60 70 80 90 100
CQVEESTALL ELVQDMQESI NMERVVFKVL RRLCTLLQAD RCSLFMYRQR
110 120 130 140 150
NGVAELATRL FSVQPDSVLE DCLVPPDSEI VFPLDIGVVG HVAQTKKMVN
160 170 180 190 200
VEDVAECPHF SSFADELTDY KTKNMLATPI MNGKDVVAVI MAVNKLNGPF
210 220 230 240 250
FTSEDEDVFL KYLNFATLYL KIYHLSYLHN CETRRGQVLL WSANKVFEEL
260 270 280 290 300
TDIERQFHKA FYTVRAYLNC ERYSVGLLDM TKEKEFFDVW SVLMGESQPY
310 320 330 340 350
SGPRTPDGRE IVFYKVIDYV LHGKEEIKVI PTPSADHWAL ASGLPSYVAE
360 370 380 390 400
SGFICNIMNA SADEMFKFQE GALDDSGWLI KNVLSMPIVN KKEEIVGVAT
410 420 430 440 450
FYNRKDGKPF DEQDEVLMES LTQFLGWSVM NTDTYDKMNK LENRKDIAQD
460 470 480 490 500
MVLYHVKCDR DEIQLILPTR ARLGKEPADC DEDELGEILK EELPGPTTFD
510 520 530 540 550
IYEFHFSDLE CTELDLVKCG IQMYYELGVV RKFQIPQEVL VRFLFSISKG
560 570 580 590 600
YRRITYHNWR HGFNVAQTMF TLLMTGKLKS YYTDLEAFAM VTAGLCHDID
610 620 630 640 650
HRGTNNLYQM KSQNPLAKLH GSSILERHHL EFGKFLLSEE TLNIYQNLNR
660 670 680 690 700
RQHEHVIHLM DIAIIATDLA LYFKKRAMFQ KIVDESKNYQ DKKSWVEYLS
710 720 730 740 750
LETTRKEIVM AMMMTACDLS AITKPWEVQS KVALLVAAEF WEQGDLERTV
760 770 780 790 800
LDQQPIPMMD RNKAAELPKL QVGFIDFVCT FVYKEFSRFH EEILPMFDRL
810 820 830 840 850
QNNRKEWKAL ADEYEAKVKA LEEKEEEERV AAKKVGTEIC NGGPAPKSST

CCIL
Length:854
Mass (Da):98,336
Last modified:April 14, 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:iBB11A519BE88C9DF
GO
Isoform 2 (identifier: P35913-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     835-835: Missing.

Show »
Length:853
Mass (Da):98,237
Checksum:i1EE848D6E7BAB8BE
GO
Isoform 3 (identifier: P35913-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-279: Missing.

Note: No experimental confirmation available.
Show »
Length:575
Mass (Da):66,494
Checksum:i9A1DDC1F0956A149
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C4P9H7C4P9_HUMAN
Rod cGMP-specific 3',5'-cyclic phos...
PDE6B
144Annotation 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>
H7C4F7H7C4F7_HUMAN
Rod cGMP-specific 3',5'-cyclic phos...
PDE6B
149Annotation 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>
C9J7V6C9J7V6_HUMAN
Rod cGMP-specific 3',5'-cyclic phos...
PDE6B
97Annotation 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>
C9J628C9J628_HUMAN
Rod cGMP-specific 3',5'-cyclic phos...
PDE6B
41Annotation 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 conflicti33 – 35AAA → GRG in CAA44569 (PubMed:1720239).Curated3
Sequence conflicti33 – 35AAA → GRG in CAA46932 (PubMed:1338685).Curated3
Sequence conflicti33 – 35AAA → GRG in AAB22690 (PubMed:1322354).Curated3
Sequence conflicti315K → Q in CAA44569 (PubMed:1720239).Curated1
Sequence conflicti320V → L in CAA44569 (PubMed:1720239).Curated1
Sequence conflicti360A → R in CAA44569 (PubMed:1720239).Curated1
Sequence conflicti698Y → I in CAA44569 (PubMed:1720239).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00928374R → C in RP40; autosomal recessive. Corresponds to variant dbSNP:rs144590560Ensembl.1
Natural variantiVAR_068361100R → H in RP40. 1 PublicationCorresponds to variant dbSNP:rs555600300EnsemblClinVar.1
Natural variantiVAR_009284166E → K1 PublicationCorresponds to variant dbSNP:rs115775983EnsemblClinVar.1
Natural variantiVAR_009285212Y → H1 PublicationCorresponds to variant dbSNP:rs551545798Ensembl.1
Natural variantiVAR_009286219Y → H in RP40; autosomal recessive. Corresponds to variant dbSNP:rs62295357EnsemblClinVar.1
Natural variantiVAR_009287228L → H in RP40; autosomal recessive and autosomal dominant. 1 Publication1
Natural variantiVAR_009288228L → I. Corresponds to variant dbSNP:rs201584824EnsemblClinVar.1
Natural variantiVAR_009289258H → N in CSNBAD2. 1 PublicationCorresponds to variant dbSNP:rs121918582EnsemblClinVar.1
Natural variantiVAR_054868320V → I6 PublicationsCorresponds to variant dbSNP:rs10902758Ensembl.1
Natural variantiVAR_009290527L → P in RP40; autosomal recessive. Corresponds to variant dbSNP:rs760766981EnsemblClinVar.1
Natural variantiVAR_009291535I → N in RP40; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs527236088EnsemblClinVar.1
Natural variantiVAR_009292552R → Q in RP40; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs751859807Ensembl.1
Natural variantiVAR_006050557H → Y in RP40; autosomal dominant. 1 PublicationCorresponds to variant dbSNP:rs121918581EnsemblClinVar.1
Natural variantiVAR_006051576G → D in RP40; autosomal recessive. 1 Publication1
Natural variantiVAR_054869654E → D2 PublicationsCorresponds to variant dbSNP:rs17849286Ensembl.1
Natural variantiVAR_006052699L → R in RP40; autosomal recessive. 1 Publication1
Natural variantiVAR_068362776D → N in RP40. 1 PublicationCorresponds to variant dbSNP:rs141563823EnsemblClinVar.1
Natural variantiVAR_009293854L → R in RP40; autosomal recessive. 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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0449191 – 279Missing in isoform 3. 1 PublicationAdd BLAST279
Alternative sequenceiVSP_036884835Missing in isoform 2. 2 Publications1

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
X62692
, X62693, X62694, X62695 Genomic DNA Translation: CAA44569.1
X66142 mRNA Translation: CAA46932.1
S41458 mRNA Translation: AAB22690.1
BT009794 mRNA Translation: AAP88796.1
AK316054 mRNA Translation: BAH14425.1
AC107464 Genomic DNA No translation available.
BC000249 mRNA Translation: AAH00249.1
X90587
, X90588, X90589, X90590 Genomic DNA Translation: CAA62215.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS33932.1 [P35913-1]
CCDS46993.1 [P35913-3]
CCDS54703.1 [P35913-2]

Protein sequence database of the Protein Information Resource

More...
PIRi
A42828

NCBI Reference Sequences

More...
RefSeqi
NP_000274.2, NM_000283.3
NP_001138763.1, NM_001145291.1
NP_001138764.1, NM_001145292.1
XP_016863774.1, XM_017008285.1 [P35913-3]
XP_016863775.1, XM_017008286.1 [P35913-3]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.623810
Hs.654544

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000255622; ENSP00000255622; ENSG00000133256 [P35913-2]
ENST00000429163; ENSP00000406334; ENSG00000133256 [P35913-3]
ENST00000496514; ENSP00000420295; ENSG00000133256 [P35913-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
5158

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:5158

UCSC genome browser

More...
UCSCi
uc003gao.5 human [P35913-1]

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 PDE6A/B/G genes

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X62692
, X62693, X62694, X62695 Genomic DNA Translation: CAA44569.1
X66142 mRNA Translation: CAA46932.1
S41458 mRNA Translation: AAB22690.1
BT009794 mRNA Translation: AAP88796.1
AK316054 mRNA Translation: BAH14425.1
AC107464 Genomic DNA No translation available.
BC000249 mRNA Translation: AAH00249.1
X90587
, X90588, X90589, X90590 Genomic DNA Translation: CAA62215.1
CCDSiCCDS33932.1 [P35913-1]
CCDS46993.1 [P35913-3]
CCDS54703.1 [P35913-2]
PIRiA42828
RefSeqiNP_000274.2, NM_000283.3
NP_001138763.1, NM_001145291.1
NP_001138764.1, NM_001145292.1
XP_016863774.1, XM_017008285.1 [P35913-3]
XP_016863775.1, XM_017008286.1 [P35913-3]
UniGeneiHs.623810
Hs.654544

3D structure databases

ProteinModelPortaliP35913
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111184, 1 interactor
STRINGi9606.ENSP00000420295

Chemistry databases

BindingDBiP35913
ChEMBLiCHEMBL3430880
DrugBankiDB00201 Caffeine

PTM databases

iPTMnetiP35913
PhosphoSitePlusiP35913

Polymorphism and mutation databases

BioMutaiPDE6B
DMDMi226693550

Proteomic databases

PaxDbiP35913
PeptideAtlasiP35913
PRIDEiP35913
ProteomicsDBi55162
55163 [P35913-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
5158
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000255622; ENSP00000255622; ENSG00000133256 [P35913-2]
ENST00000429163; ENSP00000406334; ENSG00000133256 [P35913-3]
ENST00000496514; ENSP00000420295; ENSG00000133256 [P35913-1]
GeneIDi5158
KEGGihsa:5158
UCSCiuc003gao.5 human [P35913-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
5158
DisGeNETi5158
EuPathDBiHostDB:ENSG00000133256.12

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PDE6B
GeneReviewsiPDE6B

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0031458
HIX0031649
HGNCiHGNC:8786 PDE6B
HPAiHPA054148
HPA059929
MalaCardsiPDE6B
MIMi163500 phenotype
180072 gene
613801 phenotype
neXtProtiNX_P35913
OpenTargetsiENSG00000133256
Orphaneti215 Congenital stationary night blindness
791 Retinitis pigmentosa
PharmGKBiPA33134

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3689 Eukaryota
ENOG410XRI7 LUCA
GeneTreeiENSGT00940000156471
HOGENOMiHOG000007069
HOVERGENiHBG053539
KOiK13756
OMAiGVVKKFQ
OrthoDBiEOG091G01RK
PhylomeDBiP35913
TreeFamiTF316499

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-4086398 Ca2+ pathway

Miscellaneous databases

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

More...
ChiTaRSi
PDE6B human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
PDE6B

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

More...
GenomeRNAii
5158

Protein Ontology

More...
PROi
PR:P35913

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000133256 Expressed in 122 organ(s), highest expression level in substantia nigra
CleanExiHS_PDE6B
ExpressionAtlasiP35913 baseline and differential
GenevisibleiP35913 HS

Family and domain databases

CDDicd00077 HDc, 1 hit
Gene3Di1.10.1300.10, 1 hit
3.30.450.40, 2 hits
InterProiView protein in InterPro
IPR003018 GAF
IPR029016 GAF-like_dom_sf
IPR003607 HD/PDEase_dom
IPR023088 PDEase
IPR002073 PDEase_catalytic_dom
IPR036971 PDEase_catalytic_dom_sf
IPR023174 PDEase_CS
PfamiView protein in Pfam
PF01590 GAF, 2 hits
PF00233 PDEase_I, 1 hit
PRINTSiPR00387 PDIESTERASE1
SMARTiView protein in SMART
SM00065 GAF, 2 hits
SM00471 HDc, 1 hit
PROSITEiView protein in PROSITE
PS00126 PDEASE_I_1, 1 hit
PS51845 PDEASE_I_2, 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 nameiPDE6B_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: P35913
Secondary accession number(s): B7Z9T9
, E7ETT3, Q53XN5, Q9BWH5, Q9UD49
<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: June 1, 1994
Last sequence update: April 14, 2009
Last modified: December 5, 2018
This is version 189 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 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or 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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