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Entry version 152 (11 Dec 2019)
Sequence version 1 (01 Nov 1996)
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Protein

Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma

Gene

PDE6H

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

Participates in processes of transmission and amplification of the visual signal. cGMP-PDEs are the effector molecules in G-protein-mediated phototransduction in vertebrate rods and cones.

<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>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

<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:
Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma (EC:3.1.4.35)
Short name:
GMP-PDE gamma
<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:PDE6H
<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: Unplaced

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000139053.2

Human Gene Nomenclature Database

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HGNCi
HGNC:8790 PDE6H

Online Mendelian Inheritance in Man (OMIM)

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MIMi
601190 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q13956

<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

<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

Cone dystrophy, retinal 3A (RCD3A)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare form of cone dystrophy associated with supernormal rod responses. The disorder is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision. At an early age, the retina shows subtle depigmentation at the macula and, later, more obvious areas of atrophy.
Related information in OMIM

Organism-specific databases

DisGeNET

More...
DisGeNETi
5149

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

More...
GeneReviewsi
PDE6H

MalaCards human disease database

More...
MalaCardsi
PDE6H
MIMi610024 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000139053

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

More...
Orphaneti
49382 Achromatopsia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA33138

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q13956 Tclin

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2097163
CHEMBL2363066

Drug and drug target database

More...
DrugBanki
DB00203 Sildenafil
DB00862 Vardenafil

DrugCentral

More...
DrugCentrali
Q13956

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PDE6H

Domain mapping of disease mutations (DMDM)

More...
DMDMi
2833249

<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_00001661201 – 83Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gammaAdd BLAST83

Proteomic databases

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

More...
PaxDbi
Q13956

PRoteomics IDEntifications database

More...
PRIDEi
Q13956

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
59778

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q13956

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

More...
PhosphoSitePlusi
Q13956

<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
ENSG00000139053 Expressed in 43 organ(s), highest expression level in pigmented layer of retina

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q13956 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA045118

<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 composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma).

<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

Show more details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
111175, 4 interactors

Protein interaction database and analysis system

More...
IntActi
Q13956, 5 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000266395

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q13956

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q13956 protein

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

3D structure databases

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

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SMRi
Q13956

Database of comparative protein structure models

More...
ModBasei
Search...

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

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 biasi20 – 41Arg/Lys-rich (basic)Add BLAST22

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The C-terminal region is important in conferring inhibition.By similarity

<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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IZA8 Eukaryota
ENOG410YN07 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000013260

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000261673

KEGG Orthology (KO)

More...
KOi
K13760

Identification of Orthologs from Complete Genome Data

More...
OMAi
NDIPLME

Database of Orthologous Groups

More...
OrthoDBi
1574918at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q13956

TreeFam database of animal gene trees

More...
TreeFami
TF333297

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
4.10.1120.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR006952 PDE6_gamma
IPR037030 PDE6_gamma_sf

The PANTHER Classification System

More...
PANTHERi
PTHR12122 PTHR12122, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF04868 PDE6_gamma, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF000969 35-cGMP_Pdiase_g, 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>Sequencei

<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.

Q13956-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSDNTTLPAP ASNQGPTTPR KGPPKFKQRQ TRQFKSKPPK KGVKGFGDDI
60 70 80
PGMEGLGTDI TVICPWEAFS HLELHELAQF GII
Length:83
Mass (Da):9,074
Last modified:November 1, 1996 - v1
<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:i7A8944DC0550BA45
GO

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
D45399 mRNA Translation: BAA08241.1
BC069774 mRNA Translation: AAH69774.1
BC069800 mRNA Translation: AAH69800.1
BC093738 mRNA Translation: AAH93738.1
BC093740 mRNA Translation: AAH93740.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS8672.1

NCBI Reference Sequences

More...
RefSeqi
NP_006196.1, NM_006205.2
XP_016874920.1, XM_017019431.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000266395; ENSP00000266395; ENSG00000139053

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
5149

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:5149

UCSC genome browser

More...
UCSCi
uc001rcr.5 human

<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
D45399 mRNA Translation: BAA08241.1
BC069774 mRNA Translation: AAH69774.1
BC069800 mRNA Translation: AAH69800.1
BC093738 mRNA Translation: AAH93738.1
BC093740 mRNA Translation: AAH93740.1
CCDSiCCDS8672.1
RefSeqiNP_006196.1, NM_006205.2
XP_016874920.1, XM_017019431.1

3D structure databases

SMRiQ13956
ModBaseiSearch...

Protein-protein interaction databases

BioGridi111175, 4 interactors
IntActiQ13956, 5 interactors
STRINGi9606.ENSP00000266395

Chemistry databases

BindingDBiQ13956
ChEMBLiCHEMBL2097163
CHEMBL2363066
DrugBankiDB00203 Sildenafil
DB00862 Vardenafil
DrugCentraliQ13956

PTM databases

iPTMnetiQ13956
PhosphoSitePlusiQ13956

Polymorphism and mutation databases

BioMutaiPDE6H
DMDMi2833249

Proteomic databases

PaxDbiQ13956
PRIDEiQ13956
ProteomicsDBi59778

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
5149

Genome annotation databases

EnsembliENST00000266395; ENSP00000266395; ENSG00000139053
GeneIDi5149
KEGGihsa:5149
UCSCiuc001rcr.5 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
5149
DisGeNETi5149
EuPathDBiHostDB:ENSG00000139053.2

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PDE6H
GeneReviewsiPDE6H
HGNCiHGNC:8790 PDE6H
HPAiHPA045118
MalaCardsiPDE6H
MIMi601190 gene
610024 phenotype
neXtProtiNX_Q13956
OpenTargetsiENSG00000139053
Orphaneti49382 Achromatopsia
PharmGKBiPA33138

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IZA8 Eukaryota
ENOG410YN07 LUCA
GeneTreeiENSGT00390000013260
HOGENOMiHOG000261673
KOiK13760
OMAiNDIPLME
OrthoDBi1574918at2759
PhylomeDBiQ13956
TreeFamiTF333297

Miscellaneous databases

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

More...
GenomeRNAii
5149
PharosiQ13956 Tclin

Protein Ontology

More...
PROi
PR:Q13956
RNActiQ13956 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000139053 Expressed in 43 organ(s), highest expression level in pigmented layer of retina
GenevisibleiQ13956 HS

Family and domain databases

Gene3Di4.10.1120.10, 1 hit
InterProiView protein in InterPro
IPR006952 PDE6_gamma
IPR037030 PDE6_gamma_sf
PANTHERiPTHR12122 PTHR12122, 1 hit
PfamiView protein in Pfam
PF04868 PDE6_gamma, 1 hit
PIRSFiPIRSF000969 35-cGMP_Pdiase_g, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

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

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCNCG_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: Q13956
Secondary accession number(s): Q52LY7
<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: November 1, 1996
Last modified: December 11, 2019
This is version 152 of the entry and version 1 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

Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
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