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Entry version 174 (13 Feb 2019)
Sequence version 2 (07 Mar 2006)
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Protein

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

Gene

PDE6C

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

As cone-specific cGMP phosphodiesterase, it plays an essential role in light detection and cone phototransduction by rapidly decreasing intracellular levels of cGMP.2 Publications

<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 describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei97cGMPBy similarity1
Binding sitei116cGMPBy similarity1
Binding sitei176cGMPBy similarity1
<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 sitei562Proton 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 bindingi566Divalent metal cation 1By similarity1
Metal bindingi602Divalent metal cation 1By similarity1
Metal bindingi603Divalent metal cation 1By similarity1
Metal bindingi603Divalent metal cation 2By similarity1
Metal bindingi723Divalent metal cation 1By similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi169 – 172cGMPBy similarity4

<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

  • phototransduction, visible light Source: Ensembl
  • retinal cone cell development Source: Ensembl
  • visual perception Source: GO_Central

<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, cGMP-binding, Metal-binding, Nucleotide-binding

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

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' (EC:3.1.4.352 Publications)
Alternative name(s):
cGMP phosphodiesterase 6C
<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:PDE6C
Synonyms:PDEA2
<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 10

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000095464.9

Human Gene Nomenclature Database

More...
HGNCi
HGNC:8787 PDE6C

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
600827 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P51160

<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

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

Cone dystrophy 4 (COD4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn early-onset cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs.
See also OMIM:613093
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_06240829R → W in COD4 and ACHM5; severely decreases cGMP phosphodiesterase activity. 3 PublicationsCorresponds to variant dbSNP:rs121918537EnsemblClinVar.1
Achromatopsia 5 (ACHM5)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of achromatopsia, an ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. ACHM5 inheritance is autosomal recessive.
See also OMIM:613093
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06240829R → W in COD4 and ACHM5; severely decreases cGMP phosphodiesterase activity. 3 PublicationsCorresponds to variant dbSNP:rs121918537EnsemblClinVar.1
Natural variantiVAR_079307104R → W in ACHM5; severely decreases cGMP phosphodiesterase activity. 2 PublicationsCorresponds to variant dbSNP:rs769506319Ensembl.1
Natural variantiVAR_079308276 – 858Missing in ACHM5. 1 PublicationAdd BLAST583
Natural variantiVAR_062409323Y → N in ACHM5; decreases cGMP phosphodiesterase activity. 3 PublicationsCorresponds to variant dbSNP:rs121918538EnsemblClinVar.1
Natural variantiVAR_079309391P → L in ACHM5; severely decreases cGMP phosphodiesterase activity. 2 Publications1
Natural variantiVAR_062410455M → V in ACHM5; decreases cGMP phosphodiesterase activity. 2 PublicationsCorresponds to variant dbSNP:rs121918539EnsemblClinVar.1
Natural variantiVAR_079310602H → L in ACHM5; severely decreases cGMP phosphodiesterase activity. 2 PublicationsCorresponds to variant dbSNP:rs267606934EnsemblClinVar.1
Natural variantiVAR_079311790E → K in ACHM5; decreases cGMP phosphodiesterase activity. 2 PublicationsCorresponds to variant dbSNP:rs267606936EnsemblClinVar.1
Natural variantiVAR_079312819 – 858Missing in ACHM5. 1 PublicationAdd BLAST40

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi858L → V: No effect on cGMP phosphodiesterase activity. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
5146

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

More...
GeneReviewsi
PDE6C

MalaCards human disease database

More...
MalaCardsi
PDE6C
MIMi613093 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000095464

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

More...
Orphaneti
49382 Achromatopsia
1871 Progressive cone dystrophy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA33135

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3977

Drug and drug target database

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DrugBanki
DB00201 Caffeine

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
1314

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PDE6C

Domain mapping of disease mutations (DMDM)

More...
DMDMi
90111861

<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_00001988311 – 855Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'Add BLAST855
<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_0000370788856 – 858Removed in mature formSequence analysis3

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 residuei855Cysteine methyl esterSequence analysis1
<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>Lipidationi855S-geranylgeranyl cysteineBy similarity1

Keywords - PTMi

Lipoprotein, Methylation, Prenylation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
P51160

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

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PaxDbi
P51160

PeptideAtlas

More...
PeptideAtlasi
P51160

PRoteomics IDEntifications database

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PRIDEi
P51160

ProteomicsDB human proteome resource

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ProteomicsDBi
56291

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P51160

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

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PhosphoSitePlusi
P51160

<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
ENSG00000095464 Expressed in 83 organ(s), highest expression level in right hemisphere of cerebellum

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P51160 HS

<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

Composed of two alpha' subunits that are associated with 3 smaller proteins of 11, 13, and 15 kDa.

Protein-protein interaction databases

STRING: functional protein association networks

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STRINGi
9606.ENSP00000360502

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P51160

<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

Secondary structure

1858
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3JWQX-ray2.87A/B/C/D746-785[»]
3JWRX-ray2.99A/B746-785[»]
5E8FX-ray2.10D/E851-855[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P51160

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

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SMRi
P51160

Database of comparative protein structure models

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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>Domaini75 – 224GAF 1Add BLAST150
Domaini256 – 433GAF 2Add BLAST178
Domaini486 – 819PDEasePROSITE-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

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eggNOGi
KOG3689 Eukaryota
ENOG410XRI7 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000157825

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000007069

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG053539

KEGG Orthology (KO)

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KOi
K13757

Identification of Orthologs from Complete Genome Data

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OMAi
PIVMGKE

Database of Orthologous Groups

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OrthoDBi
139008at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P51160

TreeFam database of animal gene trees

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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

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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

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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

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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>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.

<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.

P51160-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGEINQVAVE KYLEENPQFA KEYFDRKLRV EVLGEIFKNS QVPVQSSMSF
60 70 80 90 100
SELTQVEESA LCLELLWTVQ EEGGTPEQGV HRALQRLAHL LQADRCSMFL
110 120 130 140 150
CRSRNGIPEV ASRLLDVTPT SKFEDNLVGP DKEVVFPLDI GIVGWAAHTK
160 170 180 190 200
KTHNVPDVKK NSHFSDFMDK QTGYVTKNLL ATPIVVGKEV LAVIMAVNKV
210 220 230 240 250
NASEFSKQDE EVFSKYLNFV SIILRLHHTS YMYNIESRRS QILMWSANKV
260 270 280 290 300
FEELTDVERQ FHKALYTVRS YLNCERYSIG LLDMTKEKEF YDEWPIKLGE
310 320 330 340 350
VEPYKGPKTP DGREVNFYKI IDYILHGKEE IKVIPTPPAD HWTLISGLPT
360 370 380 390 400
YVAENGFICN MMNAPADEYF TFQKGPVDET GWVIKNVLSL PIVNKKEDIV
410 420 430 440 450
GVATFYNRKD GKPFDEHDEY ITETLTQFLG WSLLNTDTYD KMNKLENRKD
460 470 480 490 500
IAQEMLMNQT KATPEEIKSI LKFQEKLNVD VIDDCEEKQL VAILKEDLPD
510 520 530 540 550
PRSAELYEFR FSDFPLTEHG LIKCGIRLFF EINVVEKFKV PVEVLTRWMY
560 570 580 590 600
TVRKGYRAVT YHNWRHGFNV GQTMFTLLMT GRLKKYYTDL EAFAMLAAAF
610 620 630 640 650
CHDIDHRGTN NLYQMKSTSP LARLHGSSIL ERHHLEYSKT LLQDESLNIF
660 670 680 690 700
QNLNKRQFET VIHLFEVAII ATDLALYFKK RTMFQKIVDA CEQMQTEEEA
710 720 730 740 750
IKYVTVDPTK KEIIMAMMMT ACDLSAITKP WEVQSQVALM VANEFWEQGD
760 770 780 790 800
LERTVLQQQP IPMMDRNKRD ELPKLQVGFI DFVCTFVYKE FSRFHKEITP
810 820 830 840 850
MLSGLQNNRV EWKSLADEYD AKMKVIEEEA KKQEGGAEKA AEDSGGGDDK

KSKTCLML
Length:858
Mass (Da):99,147
Last modified:March 7, 2006 - 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:i06FFD025EE5936A5
GO

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 conflicti116D → V in AAA96392 (PubMed:8543163).Curated1
Sequence conflicti116D → V in AAA92886 (PubMed:7490077).Curated1
Sequence conflicti373Q → P in AAA96392 (PubMed:8543163).Curated1
Sequence conflicti464P → L in AAA96392 (PubMed:8543163).Curated1
Sequence conflicti565R → Q in AAA96392 (PubMed:8543163).Curated1
Sequence conflicti565R → Q in AAA92886 (PubMed:7490077).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06240829R → W in COD4 and ACHM5; severely decreases cGMP phosphodiesterase activity. 3 PublicationsCorresponds to variant dbSNP:rs121918537EnsemblClinVar.1
Natural variantiVAR_079307104R → W in ACHM5; severely decreases cGMP phosphodiesterase activity. 2 PublicationsCorresponds to variant dbSNP:rs769506319Ensembl.1
Natural variantiVAR_025470157D → E Rare polymorphism. 1 PublicationCorresponds to variant dbSNP:rs76999928EnsemblClinVar.1
Natural variantiVAR_050475270S → T1 PublicationCorresponds to variant dbSNP:rs701865EnsemblClinVar.1
Natural variantiVAR_079308276 – 858Missing in ACHM5. 1 PublicationAdd BLAST583
Natural variantiVAR_062409323Y → N in ACHM5; decreases cGMP phosphodiesterase activity. 3 PublicationsCorresponds to variant dbSNP:rs121918538EnsemblClinVar.1
Natural variantiVAR_079309391P → L in ACHM5; severely decreases cGMP phosphodiesterase activity. 2 Publications1
Natural variantiVAR_062410455M → V in ACHM5; decreases cGMP phosphodiesterase activity. 2 PublicationsCorresponds to variant dbSNP:rs121918539EnsemblClinVar.1
Natural variantiVAR_079310602H → L in ACHM5; severely decreases cGMP phosphodiesterase activity. 2 PublicationsCorresponds to variant dbSNP:rs267606934EnsemblClinVar.1
Natural variantiVAR_050476699E → A. Corresponds to variant dbSNP:rs12261131EnsemblClinVar.1
Natural variantiVAR_079311790E → K in ACHM5; decreases cGMP phosphodiesterase activity. 2 PublicationsCorresponds to variant dbSNP:rs267606936EnsemblClinVar.1
Natural variantiVAR_079312819 – 858Missing in ACHM5. 1 PublicationAdd BLAST40
Natural variantiVAR_025471822K → N Rare polymorphism. 1 PublicationCorresponds to variant dbSNP:rs79487435Ensembl.1
Natural variantiVAR_064744826I → S Found in a renal cell carcinoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_025472834E → G Rare polymorphism. 1 PublicationCorresponds to variant dbSNP:rs148661165EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
U31973 mRNA Translation: AAA96392.1
U20212
, U20196, U20197, U20199, U20200, U20201, U20202, U20203, U20204, U20205, U20206, U20207, U20208, U20209, U20210, U20211 Genomic DNA Translation: AAA92886.1
X94354 Genomic DNA Translation: CAA64079.1
AL356214 Genomic DNA No translation available.
AL157396 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW50064.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS7429.1

Protein sequence database of the Protein Information Resource

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PIRi
S63688 JC4520

NCBI Reference Sequences

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RefSeqi
NP_006195.3, NM_006204.3

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.658121

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000371447; ENSP00000360502; ENSG00000095464

Database of genes from NCBI RefSeq genomes

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GeneIDi
5146

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:5146

UCSC genome browser

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UCSCi
uc001kiu.5 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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U31973 mRNA Translation: AAA96392.1
U20212
, U20196, U20197, U20199, U20200, U20201, U20202, U20203, U20204, U20205, U20206, U20207, U20208, U20209, U20210, U20211 Genomic DNA Translation: AAA92886.1
X94354 Genomic DNA Translation: CAA64079.1
AL356214 Genomic DNA No translation available.
AL157396 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW50064.1
CCDSiCCDS7429.1
PIRiS63688 JC4520
RefSeqiNP_006195.3, NM_006204.3
UniGeneiHs.658121

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3JWQX-ray2.87A/B/C/D746-785[»]
3JWRX-ray2.99A/B746-785[»]
5E8FX-ray2.10D/E851-855[»]
ProteinModelPortaliP51160
SMRiP51160
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000360502

Chemistry databases

BindingDBiP51160
ChEMBLiCHEMBL3977
DrugBankiDB00201 Caffeine
GuidetoPHARMACOLOGYi1314

PTM databases

iPTMnetiP51160
PhosphoSitePlusiP51160

Polymorphism and mutation databases

BioMutaiPDE6C
DMDMi90111861

Proteomic databases

jPOSTiP51160
PaxDbiP51160
PeptideAtlasiP51160
PRIDEiP51160
ProteomicsDBi56291

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
5146
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000371447; ENSP00000360502; ENSG00000095464
GeneIDi5146
KEGGihsa:5146
UCSCiuc001kiu.5 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
5146
DisGeNETi5146
EuPathDBiHostDB:ENSG00000095464.9

GeneCards: human genes, protein and diseases

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GeneCardsi
PDE6C
GeneReviewsiPDE6C

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0035433
HGNCiHGNC:8787 PDE6C
MalaCardsiPDE6C
MIMi600827 gene
613093 phenotype
neXtProtiNX_P51160
OpenTargetsiENSG00000095464
Orphaneti49382 Achromatopsia
1871 Progressive cone dystrophy
PharmGKBiPA33135

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3689 Eukaryota
ENOG410XRI7 LUCA
GeneTreeiENSGT00940000157825
HOGENOMiHOG000007069
HOVERGENiHBG053539
KOiK13757
OMAiPIVMGKE
OrthoDBi139008at2759
PhylomeDBiP51160
TreeFamiTF316499

Miscellaneous databases

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

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ChiTaRSi
PDE6C human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
PDE6C

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

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GenomeRNAii
5146

Protein Ontology

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PROi
PR:P51160

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000095464 Expressed in 83 organ(s), highest expression level in right hemisphere of cerebellum
GenevisibleiP51160 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

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ProtoNeti
Search...

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

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPDE6C_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: P51160
Secondary accession number(s): A6NCR6, Q5VY29
<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: October 1, 1996
Last sequence update: March 7, 2006
Last modified: February 13, 2019
This is version 174 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. 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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