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Pde6h phosphodiesterase 6H, cGMP-specific, cone, gamma [ Mus musculus (house mouse) ]

Gene ID: 78600, updated on 21-Apr-2024

Summary

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Official Symbol
Pde6hprovided by MGI
Official Full Name
phosphodiesterase 6H, cGMP-specific, cone, gammaprovided by MGI
Primary source
MGI:MGI:1925850
See related
Ensembl:ENSMUSG00000064330 AllianceGenome:MGI:1925850
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
PDEgamma; A930033D18Rik
Summary
Predicted to enable 3',5'-cyclic-GMP phosphodiesterase activity and cGMP 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 active in photoreceptor outer segment membrane. Is expressed in retina outer nuclear layer. Orthologous to human PDE6H (phosphodiesterase 6H). [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:
6 G1; 6 66.72 cM
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (136929216..136940483)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (136952218..136963485)

Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_17614 Neighboring gene endoplasmic reticulum protein 27 Neighboring gene Rho, GDP dissociation inhibitor beta Neighboring gene STARR-positive B cell enhancer ABC_E3690 Neighboring gene STARR-positive B cell enhancer ABC_E9680 Neighboring gene STARR-positive B cell enhancer mm9_chr6:136929021-136929322 Neighboring gene predicted gene, 30055 Neighboring gene STARR-seq mESC enhancer starr_17616 Neighboring gene RAS-like, estrogen-regulated, growth-inhibitor Neighboring gene STARR-seq mESC enhancer starr_17617 Neighboring gene predicted gene, 52923

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. Targeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory. Brennenstuhl C, et al. J Biol Chem, 2015 Apr 17. PMID 25739440, Free PMC Article
  2. Light-dependent phosphorylation of the gamma subunit of cGMP-phophodiesterase (PDE6gamma) at residue threonine 22 in intact photoreceptor neurons. Janisch KM, et al. Biochem Biophys Res Commun, 2009 Dec 25. PMID 19878658, Free PMC Article
  3. Modulation of phosphodiesterase6 turnoff during background illumination in mouse rod photoreceptors. Woodruff ML, et al. J Neurosci, 2008 Feb 27. PMID 18305241, Free PMC Article
  4. GAP-independent termination of photoreceptor light response by excess gamma subunit of the cGMP-phosphodiesterase. Tsang SH, et al. J Neurosci, 2006 Apr 26. PMID 16641226, Free PMC Article
  5. The identification of the inhibitory gamma-subunits of the type 6 retinal cyclic guanosine monophosphate phosphodiesterase in non-retinal tissues: differential processing of mRNA transcripts. Tate RJ, et al. Genomics, 2002 Apr. PMID 11944991

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Pde6h deficiency mice suggests no defects in cone/rod-driven retinal signaling and therefore preserved visual functions.
    Title: Targeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory.
  2. The interdependency of phosphorylation of T22 and T35 suggests that light-induced, post-translational modification of PDE6gamma is essential for the regulation of G-protein signaling.
    Title: Light-dependent phosphorylation of the gamma subunit of cGMP-phophodiesterase (PDE6gamma) at residue threonine 22 in intact photoreceptor neurons.
  3. This experiments provide evidence for modulation of Pde6h dependent response turnoff in mouse rod photoreceptors.
    Title: Modulation of phosphodiesterase6 turnoff during background illumination in mouse rod photoreceptors.
  4. Our results show that the PDE6gamma binding sites of PDE6 alpha and beta are accessible to excess (presumably cytoplasmic) PDE6gamma in the light, once endogenous PDE6gamma has been displaced from its binding site by Talpha-GTP.
    Title: GAP-independent termination of photoreceptor light response by excess gamma subunit of the cGMP-phosphodiesterase.
Submit: New GeneRIF Correction

Variation

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Alleles

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

Pathways from PubChem

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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
  
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
  

General protein information

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Preferred Names
retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma
Names
GMP-PDE gamma
cone phosphodiesterase 6 gamma
cone-like cGMP-phosphodiesterase 6 gamma subunit type 2
NP_076387.2
XP_006506836.1

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_023898.4 → NP_076387.2  retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma

    See identical proteins and their annotated locations for NP_076387.2

    Status: VALIDATED

    Source sequence(s)
    AK020922, BE983779
    Consensus CDS
    CCDS39686.1
    UniProtKB/Swiss-Prot
    P61249, Q14BP9, Q9D1Y6, Q9EP63
    UniProtKB/TrEMBL
    A0A0N4SVP6
    Related
    ENSMUSP00000119246.2, ENSMUST00000137768.2
    Conserved Domains (1) summary
    pfam04868
    Location:14 → 83
    PDE6_gamma; Retinal cGMP phosphodiesterase, gamma subunit

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_000072.7 Reference GRCm39 C57BL/6J

    Range
    136929216..136940483
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006506773.3 → XP_006506836.1  retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma isoform X1

    See identical proteins and their annotated locations for XP_006506836.1

    UniProtKB/Swiss-Prot
    P61249, Q14BP9, Q9D1Y6, Q9EP63
    UniProtKB/TrEMBL
    A0A0N4SVP6
    Conserved Domains (1) summary
    pfam04868
    Location:14 → 83
    PDE6_gamma; Retinal cGMP phosphodiesterase, gamma subunit
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P61249.2 GenPept UniProtKB/Swiss-Prot:P61249

Gene LinkOut

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