Cell atlas - PDE6A - The Human Protein Atlas

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PDE6A

TISSUE

CELL

CANCER

CELL ATLAS RNA EXPRESSION

GENE/PROTEIN

Dictionary

Human cell

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GENERAL INFORMATION
Gene name	PDE6A
Gene description	Phosphodiesterase 6A, cGMP-specific, rod, alpha
Protein class	Disease related genes Enzymes Plasma proteins Potential drug targets Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	3
	SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION
Summary
RNA cell category	Cell line enhanced (CACO-2)
Protein evidence	Evidence at protein level
Main location	Not available

DATA RELIABILITY
Reliability score	Pending cell analysis.

ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Cell line enhanced (CACO-2) Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

GENE INFORMATION
Gene name	PDE6A (HGNC Symbol)
Synonyms	PDEA, RP43
Description	Phosphodiesterase 6A, cGMP-specific, rod, alpha (HGNC Symbol)
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]
Chromosome	5
Cytoband	q32
Chromosome location (bp)	149857955 - 149944793
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000132915 (version 83.38)
Entrez gene	5145
UniProt	P16499 (UniProt - Evidence at protein level)
neXtProt	NX_P16499
Antibodypedia	PDE6A antibodies

PROTEIN BROWSER

PDE6A-001	PDE6A-201	PDE6A-202

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
PDE6A-001 ENSP00000255266 ENST00000255266	P16499 [Direct mapping] Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha Show all	Enzymes ENZYME proteins Hydrolases Phobius predicted membrane proteins Predicted intracellular proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Show all	GO:0004114 [3',5'-cyclic-nucleotide phosphodiesterase activity] GO:0005515 [protein binding] GO:0005829 [cytosol] GO:0005886 [plasma membrane] GO:0007165 [signal transduction] GO:0007601 [visual perception] GO:0007603 [phototransduction, visible light] GO:0008081 [phosphoric diester hydrolase activity] GO:0016056 [rhodopsin mediated signaling pathway] GO:0022400 [regulation of rhodopsin mediated signaling pathway] GO:0045494 [photoreceptor cell maintenance] GO:0046037 [GMP metabolic process] GO:0046872 [metal ion binding] GO:0047555 [3',5'-cyclic-GMP phosphodiesterase activity] GO:0051480 [cytosolic calcium ion homeostasis] GO:0060041 [retina development in camera-type eye] GO:0097381 [photoreceptor disc membrane] Show all	860 aa 99.5 kDa	No	0
PDE6A-201 ENSP00000478060 ENST00000613228	F1T0K3 [Direct mapping] Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha Show all	Phobius predicted membrane proteins Predicted intracellular proteins Show all	GO:0004114 [3',5'-cyclic-nucleotide phosphodiesterase activity] GO:0005515 [protein binding] GO:0007165 [signal transduction] GO:0008081 [phosphoric diester hydrolase activity] GO:0008152 [metabolic process] GO:0046872 [metal ion binding] Show all	779 aa 90.1 kDa	No	0
PDE6A-202 ENSP00000482774 ENST00000617647	F1T0K3 [Direct mapping] Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha Show all	Phobius predicted membrane proteins Predicted intracellular proteins Show all	GO:0004114 [3',5'-cyclic-nucleotide phosphodiesterase activity] GO:0005515 [protein binding] GO:0007165 [signal transduction] GO:0008081 [phosphoric diester hydrolase activity] GO:0008152 [metabolic process] GO:0046872 [metal ion binding] Show all	779 aa 90.1 kDa	No	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.