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Entry version 187 (13 Nov 2019)
Sequence version 4 (25 Nov 2008)
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Protein

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

Gene

PDE6A

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.

<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 <a href="http://www.uniprot.org/help/function_section">Function</a> 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 sitei559Proton donorBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> 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 bindingi563Divalent metal cation 1By similarity1
Metal bindingi599Divalent metal cation 1By similarity1
Metal bindingi600Divalent metal cation 1By similarity1
Metal bindingi600Divalent metal cation 2By similarity1
Metal bindingi720Divalent 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

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 alpha (EC:3.1.4.35)
Short name:
GMP-PDE alpha
Alternative name(s):
PDE V-B1
<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:PDE6A
Synonyms:PDEA
<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 5

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:8785 PDE6A

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
180071 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P16499

<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

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Retinitis pigmentosa 43 (RP43)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_025460102R → H in RP43. 1 PublicationCorresponds to variant dbSNP:rs750539462Ensembl.1
Natural variantiVAR_025461102R → S in RP43. 1 PublicationCorresponds to variant dbSNP:rs141252097EnsemblClinVar.1
Natural variantiVAR_006049344S → R in RP43. 1 PublicationCorresponds to variant dbSNP:rs121918577EnsemblClinVar.1
Natural variantiVAR_025466569Q → K in RP43. 1 PublicationCorresponds to variant dbSNP:rs139444207EnsemblClinVar.1
Natural variantiVAR_025467573S → P in RP43. 1 PublicationCorresponds to variant dbSNP:rs755527251Ensembl.1

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNET

More...
DisGeNETi
5145

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

More...
GeneReviewsi
PDE6A

MalaCards human disease database

More...
MalaCardsi
PDE6A
MIMi613810 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000132915

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
PA33133

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P16499

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3878

Drug and drug target database

More...
DrugBanki
DB00201 Caffeine
DB09283 Trapidil

DrugCentral

More...
DrugCentrali
P16499

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
1312

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PDE6A

Domain mapping of disease mutations (DMDM)

More...
DMDMi
215274230

<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_00001988282 – 857Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alphaAdd BLAST856
<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_0000396697858 – 860Removed 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-acetylglycineBy similarity1
Modified residuei857Cysteine methyl esterBy 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>Lipidationi857S-farnesyl cysteineBy similarity1

Keywords - PTMi

Acetylation, Lipoprotein, Methylation, Prenylation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
P16499

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P16499

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

More...
PaxDbi
P16499

PeptideAtlas

More...
PeptideAtlasi
P16499

PRoteomics IDEntifications database

More...
PRIDEi
P16499

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
53376

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P16499

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

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PhosphoSitePlusi
P16499

Miscellaneous databases

CutDB - Proteolytic event database

More...
PMAP-CutDBi
P16499

<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

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Bgeei
ENSG00000132915 Expressed in 56 organ(s), highest expression level in retina

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P16499 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P16499 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA016970
HPA074677

<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
111171, 4 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000255266

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P16499

<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>Domaini73 – 222GAF 1Add BLAST150
Domaini254 – 431GAF 2Add BLAST178
Domaini483 – 816PDEasePROSITE-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

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GeneTreei
ENSGT00940000161330

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000007069

KEGG Orthology (KO)

More...
KOi
K08718

Identification of Orthologs from Complete Genome Data

More...
OMAi
LFMYRAR

Database of Orthologous Groups

More...
OrthoDBi
1274244at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P16499

TreeFam database of animal gene trees

More...
TreeFami
TF316499

Family and domain databases

Conserved Domains Database

More...
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

More...
InterProi
View protein in InterPro
IPR003018 GAF
IPR029016 GAF-like_dom_sf
IPR003607 HD/PDEase_dom
IPR032958 PDE6A
IPR023088 PDEase
IPR002073 PDEase_catalytic_dom
IPR036971 PDEase_catalytic_dom_sf
IPR023174 PDEase_CS

The PANTHER Classification System

More...
PANTHERi
PTHR11347:SF115 PTHR11347:SF115, 1 hit

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>. 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>Sequence (1+)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 has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

P16499-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGEVTAEEVE KFLDSNIGFA KQYYNLHYRA KLISDLLGAK EAAVDFSNYH
60 70 80 90 100
SPSSMEESEI IFDLLRDFQE NLQTEKCIFN VMKKLCFLLQ ADRMSLFMYR
110 120 130 140 150
TRNGIAELAT RLFNVHKDAV LEDCLVMPDQ EIVFPLDMGI VGHVAHSKKI
160 170 180 190 200
ANVPNTEEDE HFCDFVDILT EYKTKNILAS PIMNGKDVVA IIMAVNKVDG
210 220 230 240 250
SHFTKRDEEI LLKYLNFANL IMKVYHLSYL HNCETRRGQI LLWSGSKVFE
260 270 280 290 300
ELTDIERQFH KALYTVRAFL NCDRYSVGLL DMTKQKEFFD VWPVLMGEVP
310 320 330 340 350
PYSGPRTPDG REINFYKVID YILHGKEDIK VIPNPPPDHW ALVSGLPAYV
360 370 380 390 400
AQNGLICNIM NAPAEDFFAF QKEPLDESGW MIKNVLSMPI VNKKEEIVGV
410 420 430 440 450
ATFYNRKDGK PFDEMDETLM ESLTQFLGWS VLNPDTYESM NKLENRKDIF
460 470 480 490 500
QDIVKYHVKC DNEEIQKILK TREVYGKEPW ECEEEELAEI LQAELPDADK
510 520 530 540 550
YEINKFHFSD LPLTELELVK CGIQMYYELK VVDKFHIPQE ALVRFMYSLS
560 570 580 590 600
KGYRKITYHN WRHGFNVGQT MFSLLVTGKL KRYFTDLEAL AMVTAAFCHD
610 620 630 640 650
IDHRGTNNLY QMKSQNPLAK LHGSSILERH HLEFGKTLLR DESLNIFQNL
660 670 680 690 700
NRRQHEHAIH MMDIAIIATD LALYFKKRTM FQKIVDQSKT YESEQEWTQY
710 720 730 740 750
MMLEQTRKEI VMAMMMTACD LSAITKPWEV QSQVALLVAA EFWEQGDLER
760 770 780 790 800
TVLQQNPIPM MDRNKADELP KLQVGFIDFV CTFVYKEFSR FHEEITPMLD
810 820 830 840 850
GITNNRKEWK ALADEYDAKM KVQEEKKQKQ QSAKSAAAGN QPGGNPSPGG
860
ATTSKSCCIQ
Length:860
Mass (Da):99,547
Last modified:November 25, 2008 - v4
<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:i7EEA48A234C1FE59
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
F1T0K3F1T0K3_HUMAN
Phosphodiesterase
PDE6A
779Annotation score:

Annotation score:2 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 conflicti224V → W in AAB69155 (PubMed:2155175).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_025460102R → H in RP43. 1 PublicationCorresponds to variant dbSNP:rs750539462Ensembl.1
Natural variantiVAR_025461102R → S in RP43. 1 PublicationCorresponds to variant dbSNP:rs141252097EnsemblClinVar.1
Natural variantiVAR_047730145A → T. Corresponds to variant dbSNP:rs35431421Ensembl.1
Natural variantiVAR_025462216N → S1 PublicationCorresponds to variant dbSNP:rs10057110EnsemblClinVar.1
Natural variantiVAR_025463277V → A1 PublicationCorresponds to variant dbSNP:rs145608358EnsemblClinVar.1
Natural variantiVAR_025464293P → L1 PublicationCorresponds to variant dbSNP:rs114973968EnsemblClinVar.1
Natural variantiVAR_006049344S → R in RP43. 1 PublicationCorresponds to variant dbSNP:rs121918577EnsemblClinVar.1
Natural variantiVAR_025465391V → M1 PublicationCorresponds to variant dbSNP:rs61732059EnsemblClinVar.1
Natural variantiVAR_047731492Q → H. Corresponds to variant dbSNP:rs17711594EnsemblClinVar.1
Natural variantiVAR_025466569Q → K in RP43. 1 PublicationCorresponds to variant dbSNP:rs139444207EnsemblClinVar.1
Natural variantiVAR_025467573S → P in RP43. 1 PublicationCorresponds to variant dbSNP:rs755527251Ensembl.1
Natural variantiVAR_025468827K → Q1 PublicationCorresponds to variant dbSNP:rs780450680Ensembl.1
Natural variantiVAR_025469850G → V1 PublicationCorresponds to variant dbSNP:rs138315990EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
M26061 mRNA Translation: AAB69155.1
CH471062 Genomic DNA Translation: EAW61757.1
BC035909 mRNA Translation: AAH35909.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS4299.1

Protein sequence database of the Protein Information Resource

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PIRi
B34611

NCBI Reference Sequences

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RefSeqi
NP_000431.2, NM_000440.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000255266; ENSP00000255266; ENSG00000132915

Database of genes from NCBI RefSeq genomes

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GeneIDi
5145

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:5145

UCSC genome browser

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UCSCi
uc003lrg.4 human

Keywords - Coding sequence diversityi

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
M26061 mRNA Translation: AAB69155.1
CH471062 Genomic DNA Translation: EAW61757.1
BC035909 mRNA Translation: AAH35909.1
CCDSiCCDS4299.1
PIRiB34611
RefSeqiNP_000431.2, NM_000440.2

3D structure databases

Database of comparative protein structure models

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ModBasei
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SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi111171, 4 interactors
STRINGi9606.ENSP00000255266

Chemistry databases

BindingDBiP16499
ChEMBLiCHEMBL3878
DrugBankiDB00201 Caffeine
DB09283 Trapidil
DrugCentraliP16499
GuidetoPHARMACOLOGYi1312

PTM databases

iPTMnetiP16499
PhosphoSitePlusiP16499

Polymorphism and mutation databases

BioMutaiPDE6A
DMDMi215274230

Proteomic databases

jPOSTiP16499
MassIVEiP16499
PaxDbiP16499
PeptideAtlasiP16499
PRIDEiP16499
ProteomicsDBi53376

Genome annotation databases

EnsembliENST00000255266; ENSP00000255266; ENSG00000132915
GeneIDi5145
KEGGihsa:5145
UCSCiuc003lrg.4 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
5145
DisGeNETi5145

GeneCards: human genes, protein and diseases

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GeneCardsi
PDE6A
GeneReviewsiPDE6A
HGNCiHGNC:8785 PDE6A
HPAiHPA016970
HPA074677
MalaCardsiPDE6A
MIMi180071 gene
613810 phenotype
neXtProtiNX_P16499
OpenTargetsiENSG00000132915
Orphaneti791 Retinitis pigmentosa
PharmGKBiPA33133

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG3689 Eukaryota
ENOG410XRI7 LUCA
GeneTreeiENSGT00940000161330
HOGENOMiHOG000007069
KOiK08718
OMAiLFMYRAR
OrthoDBi1274244at2759
PhylomeDBiP16499
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

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ChiTaRSi
PDE6A human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
PDE6A

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

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GenomeRNAii
5145
PharosiP16499
PMAP-CutDBiP16499

Protein Ontology

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PROi
PR:P16499

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000132915 Expressed in 56 organ(s), highest expression level in retina
ExpressionAtlasiP16499 baseline and differential
GenevisibleiP16499 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
IPR032958 PDE6A
IPR023088 PDEase
IPR002073 PDEase_catalytic_dom
IPR036971 PDEase_catalytic_dom_sf
IPR023174 PDEase_CS
PANTHERiPTHR11347:SF115 PTHR11347:SF115, 1 hit
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

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiPDE6A_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: P16499
Secondary accession number(s): Q0P638
<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: August 1, 1990
Last sequence update: November 25, 2008
Last modified: November 13, 2019
This is version 187 of the entry and version 4 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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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