InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: PDE6A

Summary

InnateDB Gene

IDBG-53144.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PDE6A

Gene Name

phosphodiesterase 6A, cGMP-specific, rod, alpha

Synonyms

CGPR-A; PDEA; RP43

Species

Homo sapiens

Ensembl Gene

ENSG00000132915

Encoded Proteins

IDBP-53146

phosphodiesterase 6A, cGMP-specific, rod, alpha

IDBP-809067

phosphodiesterase 6A, cGMP-specific, rod, alpha

IDBP-809068

phosphodiesterase 6A, cGMP-specific, rod, alpha

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes the cyclic-GMP (cGMP)-specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits. cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and guanylate cyclase cGMP synthesis. The protein is a subunit of a key phototransduction enzyme and participates in processes of transmission and amplification of the visual signal. Mutations in this gene have been identified as one cause of autosomal recessive retinitis pigmentosa. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 5:149857955-149944793

Strand

Reverse strand

Band

q32

Transcripts

ENST00000255266	ENSP00000255266
ENST00000508173
ENST00000512670
ENST00000613228	ENSP00000478060
ENST00000617647	ENSP00000482774

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	1 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004114	3',5'-cyclic-nucleotide phosphodiesterase activity
GO:0005515	protein binding
GO:0046872	metal ion binding
GO:0047555	3',5'-cyclic-GMP phosphodiesterase activity

Biological Process

GO:0007165	signal transduction
GO:0007601	visual perception
GO:0007603	phototransduction, visible light
GO:0016056	rhodopsin mediated signaling pathway
GO:0022400	regulation of rhodopsin mediated signaling pathway
GO:0046037	GMP metabolic process
GO:0051480	cytosolic calcium ion homeostasis
GO:0060041	retina development in camera-type eye