Homo sapiens Gene: PDE6A | |||||||||||||||||||
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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 |
phosphodiesterase 6A, cGMP-specific, rod, alpha
phosphodiesterase 6A, cGMP-specific, rod, alpha
phosphodiesterase 6A, cGMP-specific, rod, alpha
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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] |
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Gene Information | |||||||||||||||||||
Type | Protein coding | ||||||||||||||||||
Genomic Location | Chromosome 5:149857955-149944793 | ||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||
Band | q32 | ||||||||||||||||||
Transcripts |
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Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||
NETPATH | |||||||||||||||||||
REACTOME |
Ca2+ pathway pathway
Activation of the phototransduction cascade pathway
beta-catenin independent WNT signaling pathway
Signaling by Wnt pathway
Signal Transduction pathway
Diseases associated with visual transduction pathway
Visual phototransduction pathway
The phototransduction cascade pathway
Inactivation, recovery and regulation of the phototransduction cascade pathway
Disease pathway
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KEGG |
Purine metabolism pathway
Phototransduction pathway
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INOH |
Purine nucleotides nucleosides metabolism pathway
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PID NCI |
Visual signal transduction: Rods
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Cross-References | |||||||||||||||||||
SwissProt | |||||||||||||||||||
TrEMBL | F1T0K3 O75316 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 5145 | ||||||||||||||||||
UniGene | |||||||||||||||||||
RefSeq | NM_000440 | ||||||||||||||||||
HUGO | HGNC:8785 | ||||||||||||||||||
OMIM | 180071 | ||||||||||||||||||
CCDS | CCDS4299 | ||||||||||||||||||
HPRD | |||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AB593141 AF022380 | ||||||||||||||||||
GenPept | AAC33831 BAJ84077 | ||||||||||||||||||
RNA Seq Atlas | 5145 | ||||||||||||||||||