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Pde6a phosphodiesterase 6A, cGMP-specific, rod, alpha [ Mus musculus (house mouse) ]

Gene ID: 225600, updated on 11-Apr-2024

Summary

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Official Symbol
Pde6aprovided by MGI
Official Full Name
phosphodiesterase 6A, cGMP-specific, rod, alphaprovided by MGI
Primary source
MGI:MGI:97524
See related
Ensembl:ENSMUSG00000024575 AllianceGenome:MGI:97524
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
Pdea; nmf282
Summary
Predicted to enable 3',5'-cyclic-nucleotide phosphodiesterase activity. Acts upstream of or within photoreceptor cell maintenance and retina development in camera-type eye. 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 43. Orthologous to human PDE6A (phosphodiesterase 6A). [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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See Pde6a in Genome Data Viewer
Location:
18 E1; 18 34.41 cM
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (61353546..61426698)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (61220474..61289750)

Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene HMG box domain containing 3 Neighboring gene predicted gene, 50614 Neighboring gene STARR-positive B cell enhancer ABC_E7591 Neighboring gene solute carrier family 26 (sulfate transporter), member 2 Neighboring gene STARR-seq mESC enhancer starr_44740 Neighboring gene predicted gene, 52353 Neighboring gene STARR-seq mESC enhancer starr_44743 Neighboring gene ribosomal protein S2, pseudogene 10 Neighboring gene STARR-seq mESC enhancer starr_44744 Neighboring gene peroxisome proliferative activated receptor, gamma, coactivator 1 beta Neighboring gene predicted gene, 46627 Neighboring gene microRNA 378a

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. Metabolite therapy guided by liquid biopsy proteomics delays retinal neurodegeneration. Wert KJ, et al. EBioMedicine, 2020 Feb. PMID 32028070, Free PMC Article
  2. Efficacy of PARP inhibition in Pde6a mutant mouse models for retinitis pigmentosa depends on the quality and composition of individual human mutations. Jiao K, et al. Cell Death Discov, 2016. PMID 27551530, Free PMC Article
  3. Retinitis pigmentosa: impact of different Pde6a point mutations on the disease phenotype. Sothilingam V, et al. Hum Mol Genet, 2015 Oct 1. PMID 26188004
  4. Mid-stage intervention achieves similar efficacy as conventional early-stage treatment using gene therapy in a pre-clinical model of retinitis pigmentosa. Wert KJ, et al. Hum Mol Genet, 2014 Jan 15. PMID 24101599, Free PMC Article
  5. Gene therapy provides long-term visual function in a pre-clinical model of retinitis pigmentosa. Wert KJ, et al. Hum Mol Genet, 2013 Feb 1. PMID 23108158, Free PMC Article

See all (49) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Replenishment of TCA cycle intermediates provides photoreceptor resilience against neurodegeneration during progression of retinitis pigmentosa.
    Title: Replenishment of TCA cycle intermediates provides photoreceptor resilience against neurodegeneration during progression of retinitis pigmentosa.
  2. Study confirms the severity of different Pde6a mutations and indicates that compound heterozygous mutants behave like intermediates of the respective homozygous situations homologous to a case of human retinitis pigmentosa.
    Title: Retinitis pigmentosa: impact of different Pde6a point mutations on the disease phenotype.
  3. cone PDE6alpha' can functionally substitute for rod PDEalphabeta in vivo, conferring treated rods with distinct physiological properties.
    Title: Cone phosphodiesterase-6α' restores rod function and confers distinct physiological properties in the rod phosphodiesterase-6β-deficient rd10 mouse.
  4. A new mutation in Pde6a was identifies in a mouse model of retinal degeneration.
    Title: Translational vision research models program.
  5. Phosphodiesterase 6 is involved in the recovery-accelerating effect of red light on the disrupted epidermal permeability barrier.
    Title: Phosphodiesterase inhibitors block the acceleration of skin permeability barrier repair by red light.
  6. Either rod or cone PDE6 can effectively couple to the cone phototransduction pathway to mediate visual signaling.
    Title: Rod phosphodiesterase-6 (PDE6) catalytic subunits restore cone function in a mouse model lacking cone PDE6 catalytic subunit.
  7. AIPL1 interacts with the catalytic subunit (alpha) of PDE6 and is needed for the assembly of functional rod PDE6 subunits.
    Title: AIPL1, a protein associated with childhood blindness, interacts with alpha-subunit of rod phosphodiesterase (PDE6) and is essential for its proper assembly.
  8. missense mutations were found in the catalytic domain of the Pde6a gene in two mouse models from an ethyl nitrosourea chemical mutagenesis screen.
    Title: New mouse models for recessive retinitis pigmentosa caused by mutations in the Pde6a gene.
  9. full transcriptional activity of the PDE6A gene requires both Nrl and Crx
    Title: Functional analysis of the rod photoreceptor cGMP phosphodiesterase alpha-subunit gene promoter: Nrl and Crx are required for full transcriptional activity.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

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

Clone Names

  • MGC25111

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables 3',5'-cyclic-AMP phosphodiesterase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables 3',5'-cyclic-GMP phosphodiesterase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables 3',5'-cyclic-nucleotide phosphodiesterase activity IEA
Inferred from Electronic Annotation
more info
  
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables phosphoric diester hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in cAMP-mediated signaling IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within photoreceptor cell maintenance IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within response to stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in retina development in camera-type eye IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within retina development in camera-type eye IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in signal transduction IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within visual perception IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in photoreceptor outer segment membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha
Names
GMP-PDE alpha
NP_666198.1
XP_006525943.2

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_146086.3 → NP_666198.1  rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha

    See identical proteins and their annotated locations for NP_666198.1

    Status: VALIDATED

    Source sequence(s)
    AC121903, BC044892
    Consensus CDS
    CCDS29283.1
    UniProtKB/Swiss-Prot
    E9Q673, P27664
    UniProtKB/TrEMBL
    B2RY78, Q8K0A8
    Related
    ENSMUSP00000025468.8, ENSMUST00000025468.15
    Conserved Domains (2) summary
    smart00065
    Location:254 → 441
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:558 → 802
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase

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_000084.7 Reference GRCm39 C57BL/6J

    Range
    61353546..61426698
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006525880.5 → XP_006525943.2  rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha isoform X1

    Conserved Domains (2) summary
    smart00065
    Location:50 → 156
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:273 → 517
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P27664.3 GenPept UniProtKB/Swiss-Prot:P27664

Gene LinkOut

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