• Gene id: 5145

Gene Summary

• Gene Symbol: PDE6A   Gene   UCSC   Ensembl
• Aliases: CGPR-A, PDEA, RP43
• Gene name: phosphodiesterase 6A
• Alternate names: rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha, GMP-PDE alpha, PDE V-B1, cGMP phosphodiesterase alpha subunit, phosphodiesterase 6A, cGMP-specific, rod, alpha, retinitis pigmentosa type 43, rod photoreceptor cGMP phosphodiesterase alpha subunit,
• Gene location: 5q32 (149944792: 149857952)     Exons: 24     NC_000005.10
• Gene summary(Entrez): 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 i
• OMIM: 180071

Protein Summary

• Protein general information: P16499  
  • Name: Rod cGMP specific 3',5' cyclic phosphodiesterase subunit alpha (GMP PDE alpha) (EC 3.1.4.35) (PDE V B1)
  • Length: 860  
  • Mass: 99547
• Sequence:

  MGEVTAEEVEKFLDSNIGFAKQYYNLHYRAKLISDLLGAKEAAVDFSNYHSPSSMEESEIIFDLLRDFQENLQTE
  KCIFNVMKKLCFLLQADRMSLFMYRTRNGIAELATRLFNVHKDAVLEDCLVMPDQEIVFPLDMGIVGHVAHSKKI
  ANVPNTEEDEHFCDFVDILTEYKTKNILASPIMNGKDVVAIIMAVNKVDGSHFTKRDEEILLKYLNFANLIMKVY
  HLSYLHNCETRRGQILLWSGSKVFEELTDIERQFHKALYTVRAFLNCDRYSVGLLDMTKQKEFFDVWPVLMGEVP
  PYSGPRTPDGREINFYKVIDYILHGKEDIKVIPNPPPDHWALVSGLPAYVAQNGLICNIMNAPAEDFFAFQKEPL
  DESGWMIKNVLSMPIVNKKEEIVGVATFYNRKDGKPFDEMDETLMESLTQFLGWSVLNPDTYESMNKLENRKDIF
  QDIVKYHVKCDNEEIQKILKTREVYGKEPWECEEEELAEILQAELPDADKYEINKFHFSDLPLTELELVKCGIQM
  YYELKVVDKFHIPQEALVRFMYSLSKGYRKITYHNWRHGFNVGQTMFSLLVTGKLKRYFTDLEALAMVTAAFCHD
  IDHRGTNNLYQMKSQNPLAKLHGSSILERHHLEFGKTLLRDESLNIFQNLNRRQHEHAIHMMDIAIIATDLALYF
  KKRTMFQKIVDQSKTYESEQEWTQYMMLEQTRKEIVMAMMMTACDLSAITKPWEVQSQVALLVAAEFWEQGDLER
  TVLQQNPIPMMDRNKADELPKLQVGFIDFVCTFVYKEFSRFHEEITPMLDGITNNRKEWKALADEYDAKMKVQEE
  KKQKQQSAKSAAAGNQPGGNPSPGGATTSKSCCIQ

• Structural information:
  • Protein Domains: (73..22-)
    (/note="GAF-1)
    (254..43-)
    (/note="GAF-2)
    (483..81-)
    (/note="PDEase-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01192"-)
  • Interpro: IPR003018  IPR029016  IPR003607  IPR032958  IPR023088   IPR002073  IPR036971  IPR023174  
  • Prosite: PS00126 PS51845
  • CDD: cd00077
  • STRING: ENSP00000255266
• Other Databases: GeneCards:  PDE6A  Malacards:  PDE6A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060041	retina development in camera-type eye	IBA	biological process
GO:0051480	regulation of cytosolic calcium ion concentration	IBA	biological process
GO:0047555	3',5'-cyclic-GMP phosphodiesterase activity	IBA	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	IBA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0047555	3',5'-cyclic-GMP phosphodiesterase activity	IEA	molecular function
GO:0004114	3',5'-cyclic-nucleotide phosphodiesterase activity	IEA	molecular function
GO:0008081	phosphoric diester hydrolase activity	IEA	molecular function
GO:0007601	visual perception	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0050896	response to stimulus	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007601	visual perception	TAS	biological process
GO:0047555	3',5'-cyclic-GMP phosphodiesterase activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0007223	Wnt signaling pathway, calcium modulating pathway	TAS	biological process
GO:0022400	regulation of rhodopsin mediated signaling pathway	TAS	biological process
GO:0097381	photoreceptor disc membrane	TAS	cellular component
GO:0097381	photoreceptor disc membrane	TAS	cellular component
GO:0016056	rhodopsin mediated signaling pathway	TAS	biological process
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism
hsa04744	Phototransduction

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Retinitis pigmentosa	KEGG:H00527
Cryptorchidism	MIK: 28606200
Male factor infertility	MIK: 29961538
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq