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

Summary

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 eye and 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, Nov 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

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_000077.7 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?

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.
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.
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.
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.
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.
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.

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Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11Bhm20 (e-PCR), detects polymorphism
- UniSTS:141619

Pde6g (e-PCR), detects polymorphism
- UniSTS:527480

Pde6g (e-PCR), detects polymorphism
- UniSTS:536460

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables cGMP binding	IEA Inferred from Electronic Annotation more info
enables calmodulin-activated 3',5'-cyclic-GMP phosphodiesterase activity	IEA Inferred from Electronic Annotation more info
enables calmodulin-activated dual specificity 3',5'-cyclic-GMP, 3',5'-cyclic-AMP phosphodiesterase 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
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

EC 3.1.4.35

XP_006532518.1

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_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

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

NC_000077.7 Reference GRCm39 C57BL/6J

Range

120338433..120344326 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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