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Q13956

- CNCG_HUMAN

UniProt

Q13956 - CNCG_HUMAN

Protein

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

Gene

PDE6H

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
  1. 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.

    Catalytic activityi

    Guanosine 3',5'-cyclic phosphate + H2O = guanosine 5'-phosphate.

    GO - Molecular functioni

    1. 3',5'-cyclic-GMP phosphodiesterase activity Source: UniProtKB-EC
    2. cGMP binding Source: InterPro
    3. enzyme inhibitor activity Source: ProtInc

    GO - Biological processi

    1. activation of MAPK activity Source: Ensembl
    2. negative regulation of catalytic activity Source: GOC
    3. positive regulation of epidermal growth factor receptor signaling pathway Source: Ensembl
    4. positive regulation of G-protein coupled receptor protein signaling pathway Source: Ensembl
    5. response to stimulus Source: UniProtKB-KW
    6. visual perception Source: ProtInc

    Keywords - Molecular functioni

    Hydrolase

    Keywords - Biological processi

    Sensory transduction, Vision

    Keywords - Ligandi

    cGMP

    Names & Taxonomyi

    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
    Gene namesi
    Name:PDE6H
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:8790. PDE6H.

    Pathology & Biotechi

    Involvement in diseasei

    Cone dystrophy, retinal 3A (RCD3A) [MIM:610024]: A 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi610024. phenotype.
    Orphaneti49382. Achromatopsia.
    PharmGKBiPA33138.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 8383Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gammaPRO_0000166120Add
    BLAST

    Proteomic databases

    PaxDbiQ13956.
    PRIDEiQ13956.

    PTM databases

    PhosphoSiteiQ13956.

    Expressioni

    Gene expression databases

    BgeeiQ13956.
    CleanExiHS_PDE6H.
    GenevestigatoriQ13956.

    Interactioni

    Subunit structurei

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

    Protein-protein interaction databases

    BioGridi111175. 1 interaction.
    STRINGi9606.ENSP00000266395.

    Structurei

    3D structure databases

    ProteinModelPortaliQ13956.
    SMRiQ13956. Positions 15-83.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi20 – 4122Arg/Lys-rich (basic)Add
    BLAST

    Domaini

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

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiNOG44345.
    HOGENOMiHOG000261673.
    HOVERGENiHBG000447.
    InParanoidiQ13956.
    KOiK13760.
    OMAiTSNQGPT.
    OrthoDBiEOG7SN8FW.
    PhylomeDBiQ13956.
    TreeFamiTF333297.

    Family and domain databases

    Gene3Di4.10.1120.10. 1 hit.
    InterProiIPR006952. PDE6_gamma.
    [Graphical view]
    PANTHERiPTHR12122. PTHR12122. 1 hit.
    PfamiPF04868. PDE6_gamma. 1 hit.
    [Graphical view]
    PIRSFiPIRSF000969. 35-cGMP_Pdiase_g. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Q13956-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSDNTTLPAP ASNQGPTTPR KGPPKFKQRQ TRQFKSKPPK KGVKGFGDDI   50
    PGMEGLGTDI TVICPWEAFS HLELHELAQF GII 83
    Length:83
    Mass (Da):9,074
    Last modified:November 1, 1996 - v1
    Checksum:i7A8944DC0550BA45
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    UniGeneiHs.54471.

    Genome annotation databases

    EnsembliENST00000266395; ENSP00000266395; ENSG00000139053.
    GeneIDi5149.
    KEGGihsa:5149.
    UCSCiuc001rcr.3. human.

    Polymorphism databases

    DMDMi2833249.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS8672.1.
    RefSeqi NP_006196.1. NM_006205.2.
    UniGenei Hs.54471.

    3D structure databases

    ProteinModelPortali Q13956.
    SMRi Q13956. Positions 15-83.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111175. 1 interaction.
    STRINGi 9606.ENSP00000266395.

    Chemistry

    BindingDBi Q13956.
    ChEMBLi CHEMBL2095220.

    PTM databases

    PhosphoSitei Q13956.

    Polymorphism databases

    DMDMi 2833249.

    Proteomic databases

    PaxDbi Q13956.
    PRIDEi Q13956.

    Protocols and materials databases

    DNASUi 5149.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000266395 ; ENSP00000266395 ; ENSG00000139053 .
    GeneIDi 5149.
    KEGGi hsa:5149.
    UCSCi uc001rcr.3. human.

    Organism-specific databases

    CTDi 5149.
    GeneCardsi GC12P015125.
    GeneReviewsi PDE6H.
    HGNCi HGNC:8790. PDE6H.
    MIMi 601190. gene.
    610024. phenotype.
    neXtProti NX_Q13956.
    Orphaneti 49382. Achromatopsia.
    PharmGKBi PA33138.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG44345.
    HOGENOMi HOG000261673.
    HOVERGENi HBG000447.
    InParanoidi Q13956.
    KOi K13760.
    OMAi TSNQGPT.
    OrthoDBi EOG7SN8FW.
    PhylomeDBi Q13956.
    TreeFami TF333297.

    Miscellaneous databases

    GenomeRNAii 5149.
    NextBioi 19868.
    PROi Q13956.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q13956.
    CleanExi HS_PDE6H.
    Genevestigatori Q13956.

    Family and domain databases

    Gene3Di 4.10.1120.10. 1 hit.
    InterProi IPR006952. PDE6_gamma.
    [Graphical view ]
    PANTHERi PTHR12122. PTHR12122. 1 hit.
    Pfami PF04868. PDE6_gamma. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF000969. 35-cGMP_Pdiase_g. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Isolation and chromosomal localization of the human cone cGMP phosphodiesterase gamma cDNA (PDE6H)."
      Shimizu-Matsumoto A., Itoh K., Inazawa J., Nishida K., Matsumoto Y., Kinoshita S., Matsubara K., Okubo K.
      Genomics 32:121-124(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Retina.
    2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    3. "A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy."
      Piri N., Gao Y.Q., Danciger M., Mendoza E., Fishman G.A., Farber D.B.
      Ophthalmology 112:159-166(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN RCD3A.

    Entry informationi

    Entry nameiCNCG_HUMAN
    AccessioniPrimary (citable) accession number: Q13956
    Secondary accession number(s): Q52LY7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: November 1, 1996
    Last modified: October 1, 2014
    This is version 115 of the entry and version 1 of the sequence. [Complete history]
    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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

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

    External Data

    Dasty 3