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

Summary

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

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_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
A new mutation in Pde6a was identifies in a mouse model of retinal degeneration.
Title: Translational vision research models program.
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.
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.
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.
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.
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.

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Variation

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Alleles

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

Chemically induced (ENU) (3) 1 citation
Endonuclease-mediated (4) 1 citation
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:224610

Pde6a (e-PCR), detects polymorphism
- UniSTS:536458

X60664 (e-PCR)
- UniSTS:160748

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

EC 3.1.4.35

XP_006525943.2

EC 3.1.4.35

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)

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

NC_000084.7 Reference GRCm39 C57BL/6J

Range

61353546..61426698

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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