pde6c phosphodiesterase 6C, cGMP-specific, cone, alpha prime [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: pde6cprovided by ZNC
Official Full Name: phosphodiesterase 6C, cGMP-specific, cone, alpha primeprovided by ZNC
Primary source: ZFIN:ZDB-GENE-040426-1664
See related: Ensembl:ENSDARG00000100397 AllianceGenome:ZFIN:ZDB-GENE-040426-1664
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: zgc:73085
Summary: Predicted to enable 3',5'-cyclic-AMP phosphodiesterase activity and 3',5'-cyclic-GMP phosphodiesterase activity. Acts upstream of or within embryonic retina morphogenesis in camera-type eye; photoreceptor cell maintenance; and visual perception. Is expressed in head and visual system. Used to study retinal degeneration. Human ortholog(s) of this gene implicated in cone-rod dystrophy. Orthologous to human PDE6C (phosphodiesterase 6C). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 12

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	12	NC_007123.7 (5129245..5154099)
105	previous assembly	GRCz10 (GCF_000002035.5)	12	NC_007123.6 (5094288..5119142)

Chromosome 12 - NC_007123.7 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: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

These observations illustrate the interdependence of cyclic GMP metabolism regulators between Aipl1, Pde6c, and Gc3 in photoreceptors.
Title: Aipl1 is required for cone photoreceptor function and survival through the stability of Pde6c and Gc3 in zebrafish.
Collectively, these results demonstrate that the underlying mechanism of cone cell death in the pde6c(w59) mutant retina is through necroptosis, whereas rod photoreceptor bystander death occurs through a caspase-dependent mechanism.
Title: Rip3 knockdown rescues photoreceptor cell death in blind pde6c zebrafish.
transient and Pde6-independent Ca(2+) elevations ('flashes') were detected throughout the inner segment and the synapse.
Title: Loss of Pde6 reduces cell body Ca(2+) transients within photoreceptors.
We have identified a blind zebrafish mutant with rapid degeneration of cone photoreceptors caused by a mutation in the cone phosphodiesterase c (pde6c) gene, a key regulatory component in cone phototransduction.
Title: A mutation in the cone-specific pde6 gene causes rapid cone photoreceptor degeneration in zebrafish.

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General gene information

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Gene Ontology Provided by ZFIN

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 embryonic retina morphogenesis in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within photoreceptor cell maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within signal transduction	IEA Inferred from Electronic Annotation more info
involved_in visual perception	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within visual perception	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'

Names: eclipse; pde6 alpha prime

NP_957165.1

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_200871.1 → NP_957165.1 cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'

See identical proteins and their annotated locations for NP_957165.1

Status: PROVISIONAL

Source sequence(s)

BC063318

UniProtKB/TrEMBL

Q6P4P8

Related

ENSDARP00000138871.1, ENSDART00000169073.2

Conserved Domains (2) summary

smart00065
Location:252 → 439

GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases

pfam00233
Location:556 → 801

PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase