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    Pde6g phosphodiesterase 6G, cGMP-specific, rod, gamma [ Mus musculus (house mouse) ]

    Gene ID: 18588, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Pde6gprovided by MGI
    Official Full Name
    phosphodiesterase 6G, cGMP-specific, rod, gammaprovided by MGI
    Primary source
    MGI:MGI:97526
    See related
    Ensembl:ENSMUSG00000025386 AllianceGenome:MGI:97526
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Pdeg; p3AT
    Summary
    Predicted to enable spectrin binding activity. Acts upstream of or within positive regulation of G protein-coupled receptor signaling pathway; positive regulation of MAPK cascade; and positive regulation of epidermal growth factor receptor signaling pathway. Predicted to be located in plasma membrane. Predicted to be active in photoreceptor outer segment membrane. Is expressed in retina outer nuclear layer. Used to study retinitis pigmentosa. Human ortholog(s) of this gene implicated in retinitis pigmentosa 57. Orthologous to human PDE6G (phosphodiesterase 6G). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    human all
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    Genomic context

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    Location:
    11 E2; 11 84.14 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (120338433..120344326, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (120447607..120453500, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene NPL4 homolog, ubiquitin recognition factor Neighboring gene STARR-seq mESC enhancer starr_31358 Neighboring gene STARR-seq mESC enhancer starr_31359 Neighboring gene tetraspanin 10 Neighboring gene coiled-coil domain containing 137 Neighboring gene oxidoreductase like domain containing 1 Neighboring gene ADP-ribosylation factor-like 16

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Effect of the ILE86TER mutation in the γ subunit of cGMP phosphodiesterase (PDE6) on rod photoreceptor signaling. Tsang SH, et al. Cell Signal, 2012 Jan. PMID 21920434, Free PMC Article
    2. Function of the asparagine 74 residue of the inhibitory γ-subunit of retinal rod cGMP-phophodiesterase (PDE) in vivo. Tsang SH, et al. Cell Signal, 2011 Oct. PMID 21616145, Free PMC Article
    3. Removal of phosphorylation sites of gamma subunit of phosphodiesterase 6 alters rod light response. Tsang SH, et al. J Physiol, 2007 Mar 1. PMID 17138607, Free PMC Article
    4. The positive role of the carboxyl terminus of the gamma subunit of retinal cGMP-phosphodiesterase in maintaining phosphodiesterase activity in vivo. Tsang SH, et al. Vision Res, 2002 Feb. PMID 11853759
    5. In vivo studies of the gamma subunit of retinal cGMP-phophodiesterase with a substitution of tyrosine-84. Tsang SH, et al. Biochem J, 2001 Feb 1. PMID 11171042, Free PMC Article

    See all (57) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. This study sheds new light on the versatility of tetratricopeptide repeat domain (TPR) domains in protein folding by describing a novel TPR-protein binding partner, Pgamma, and revealing that this subunit imparts AIPL1 selectivity for its client.
      Title: Interaction of the tetratricopeptide repeat domain of aryl hydrocarbon receptor-interacting protein-like 1 with the regulatory Pγ subunit of phosphodiesterase 6.
    2. AIPL1-mediated production of folded PDE6C is markedly elevated in the presence of the inhibitory Pgamma-subunit of PDE6.
      Title: Aryl Hydrocarbon Receptor-interacting Protein-like 1 Is an Obligate Chaperone of Phosphodiesterase 6 and Is Assisted by the γ-Subunit of Its Client.
    3. The presence of rod PDE6G in cones indicating functional substitution of PDE6h in mice.
      Title: Targeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory.
    4. our results show for the first time that the Ile(86) and Ile(87) residues of PDE6-gamma are necessary for normal inhibition of PDE6 catalytic activity in vivo
      Title: Effect of the ILE86TER mutation in the γ subunit of cGMP phosphodiesterase (PDE6) on rod photoreceptor signaling.
    5. PDE6gamma is a major component of the photoresponse and is required to support rod integrity.
      Title: Function of the asparagine 74 residue of the inhibitory γ-subunit of retinal rod cGMP-phophodiesterase (PDE) in vivo.
    6. Results suggest that the polycationic domain of PDE6 gamma containing these two phosphorylation sites can influence the rate of PDE6 activation and could modify the time course of transduction, thereby influencing the wave form of the light response.
      Title: Removal of phosphorylation sites of gamma subunit of phosphodiesterase 6 alters rod light response.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (2)  1 citation
    • Endonuclease-mediated (2) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 3',5'-cyclic-GMP phosphodiesterase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables 3',5'-cyclic-nucleotide phosphodiesterase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cGMP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables spectrin binding ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within positive regulation of G protein-coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of MAPK cascade IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of epidermal growth factor receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within positive regulation of epidermal growth factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within response to stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within visual perception IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in photoreceptor outer segment membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma
    Names
    GMP-PDE gamma
    cGMP phosphodiesterase gamma
    NP_036197.1
    XP_006532518.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_012065.3 → NP_036197.1  retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma

      See identical proteins and their annotated locations for NP_036197.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.
      Source sequence(s)
      AK080735, AL669855
      Consensus CDS
      CCDS36389.1
      UniProtKB/Swiss-Prot
      P09174
      UniProtKB/TrEMBL
      Q542R6
      Related
      ENSMUSP00000026452.3, ENSMUST00000026452.3
      Conserved Domains (1) summary
      pfam04868
      Location:6 → 87
      PDE6_gamma; Retinal cGMP phosphodiesterase, gamma subunit

    RNA

    1. NR_126089.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' region compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AK080735, AL669855, CK619967
      Related
      ENSMUST00000141795.2

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      120338433..120344326 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006532455.3 → XP_006532518.1  retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma isoform X1

      See identical proteins and their annotated locations for XP_006532518.1

      UniProtKB/Swiss-Prot
      P09174
      UniProtKB/TrEMBL
      Q542R6
      Conserved Domains (1) summary
      pfam04868
      Location:6 → 87
      PDE6_gamma; Retinal cGMP phosphodiesterase, gamma subunit
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P09174.1 GenPept UniProtKB/Swiss-Prot:P09174

    Gene LinkOut

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