• Gene id: 8654

Gene Summary

• Gene Symbol: PDE5A   Gene   UCSC   Ensembl
• Aliases: CGB-PDE, CN5A, PDE5
• Gene name: phosphodiesterase 5A
• Alternate names: cGMP-specific 3',5'-cyclic phosphodiesterase, cGMP-binding cGMP-specific 3',5'-cyclic nucleotide phosphodiesterase, cGMP-specific phosphodiesterase PDE5A2, cGMP-specific phosphodiesterase type 5A, phosphodiesterase 5A, cGMP-specific, phosphodiesterase isozyme ,
• Gene location: 4q26 (119628803: 119494394)     Exons: 24     NC_000004.12
• Gene summary(Entrez): This gene encodes a cGMP-binding, cGMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family. This phosphodiesterase specifically hydrolyzes cGMP to 5'-GMP. It is involved in the regulation of intracellular concentrations
• OMIM: 600466

Protein Summary

• Protein general information: O76074  
  • Name: cGMP specific 3',5' cyclic phosphodiesterase (EC 3.1.4.35) (cGMP binding cGMP specific phosphodiesterase) (CGB PDE)
  • Length: 875  
  • Mass: 99985
  • Tissue specificity: Expressed in aortic smooth muscle cells, heart, placenta, skeletal muscle and pancreas and, to a much lesser extent, in brain, liver and lung.
• Sequence:

  MERAGPSFGQQRQQQQPQQQKQQQRDQDSVEAWLDDHWDFTFSYFVRKATREMVNAWFAERVHTIPVCKEGIRGH
  TESCSCPLQQSPRADNSAPGTPTRKISASEFDRPLRPIVVKDSEGTVSFLSDSEKKEQMPLTPPRFDHDEGDQCS
  RLLELVKDISSHLDVTALCHKIFLHIHGLISADRYSLFLVCEDSSNDKFLISRLFDVAEGSTLEEVSNNCIRLEW
  NKGIVGHVAALGEPLNIKDAYEDPRFNAEVDQITGYKTQSILCMPIKNHREEVVGVAQAINKKSGNGGTFTEKDE
  KDFAAYLAFCGIVLHNAQLYETSLLENKRNQVLLDLASLIFEEQQSLEVILKKIAATIISFMQVQKCTIFIVDED
  CSDSFSSVFHMECEELEKSSDTLTREHDANKINYMYAQYVKNTMEPLNIPDVSKDKRFPWTTENTGNVNQQCIRS
  LLCTPIKNGKKNKVIGVCQLVNKMEENTGKVKPFNRNDEQFLEAFVIFCGLGIQNTQMYEAVERAMAKQMVTLEV
  LSYHASAAEEETRELQSLAAAVVPSAQTLKITDFSFSDFELSDLETALCTIRMFTDLNLVQNFQMKHEVLCRWIL
  SVKKNYRKNVAYHNWRHAFNTAQCMFAALKAGKIQNKLTDLEILALLIAALSHDLDHRGVNNSYIQRSEHPLAQL
  YCHSIMEHHHFDQCLMILNSPGNQILSGLSIEEYKTTLKIIKQAILATDLALYIKRRGEFFELIRKNQFNLEDPH
  QKELFLAMLMTACDLSAITKPWPIQQRIAELVATEFFDQGDRERKELNIEPTDLMNREKKNKIPSMQVGFIDAIC
  LQLYEALTHVSEDCFPLLDGCRKNRQKWQALAEQQEKMLINGESGQAKRN

• Structural information:
  • Protein Domains: (164..31-)
    (/note="GAF-1)
    (346..50-)
    (/note="GAF-2)
    (536..86-)
    (/note="PDEase-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01192"-)
  • Interpro: IPR003018  IPR029016  IPR003607  IPR023088  IPR002073   IPR036971  IPR023174  
  • Prosite: PS00126 PS51845
  • CDD: cd00077
  • PDB: 1RKP 1T9R 1T9S 1TBF 1UDT 1UDU 1UHO 1XOZ 1XP0 2CHM 2H40 2H42 2H44 2XSS 3B2R 3BJC 3HC8 3HDZ 3JWQ 3JWR 3LFV 3MF0 3SHY 3SHZ 3SIE 3TGE 3TGG 4G2W 4G2Y 4I9Z 4IA0 4MD6 4OEW 4OEX 5JO3 5ZZ2 6ACB 6IWI
  • PDBsum: 1RKP 1T9R 1T9S 1TBF 1UDT 1UDU 1UHO 1XOZ 1XP0 2CHM 2H40 2H42 2H44 2XSS 3B2R 3BJC 3HC8 3HDZ 3JWQ 3JWR 3LFV 3MF0 3SHY 3SHZ 3SIE 3TGE 3TGG 4G2W 4G2Y 4I9Z 4IA0 4MD6 4OEW 4OEX 5JO3 5ZZ2 6ACB 6IWI
  • DIP: 46287
  • STRING: ENSP00000347046
• Other Databases: GeneCards:  PDE5A  Malacards:  PDE5A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0047555	3',5'-cyclic-GMP phosphodiesterase activity	IBA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0004114	3',5'-cyclic-nucleotide phosphodiesterase activity	IEA	molecular function
GO:0008081	phosphoric diester hydrolase activity	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0030553	cGMP binding	IEA	molecular function
GO:0047555	3',5'-cyclic-GMP phosphodiesterase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0010613	positive regulation of cardiac muscle hypertrophy	IEA	biological process
GO:0042130	negative regulation of T cell proliferation	IEA	biological process
GO:0043406	positive regulation of MAP kinase activity	IEA	biological process
GO:0055118	negative regulation of cardiac muscle contraction	IEA	biological process
GO:0004112	cyclic-nucleotide phosphodiesterase activity	IEA	molecular function
GO:0004114	3',5'-cyclic-nucleotide phosphodiesterase activity	IEA	molecular function
GO:0010749	regulation of nitric oxide mediated signal transduction	IEA	biological process
GO:0030553	cGMP binding	IEA	molecular function
GO:0046068	cGMP metabolic process	IEA	biological process
GO:0046069	cGMP catabolic process	IEA	biological process
GO:0055119	relaxation of cardiac muscle	IEA	biological process
GO:0060282	positive regulation of oocyte development	IEA	biological process
GO:0046069	cGMP catabolic process	IEA	biological process
GO:0047555	3',5'-cyclic-GMP phosphodiesterase activity	IDA	molecular function
GO:0030553	cGMP binding	TAS	molecular function
GO:0005575	cellular_component	ND	cellular component
GO:0004114	3',5'-cyclic-nucleotide phosphodiesterase activity	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04022	cGMP-PKG signaling pathway
hsa00230	Purine metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R