• Gene id: 5136

Gene Summary

• Gene Symbol: PDE1A   Gene   UCSC   Ensembl
• Aliases: CAM-PDE 1A, CAM-PDE-1A, HCAM-1, HCAM1, HSPDE1A
• Gene name: phosphodiesterase 1A
• Alternate names: calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A, 61 kDa Cam-PDE, calcium/calmodulin-stimulated cyclic nucleotide phosphodiesterase, phosphodiesterase 1A, calmodulin-dependent,
• Gene location: 2q32.1 (182523374: 182136452)     Exons: 24     NC_000002.12
• Gene summary(Entrez): Cyclic nucleotide phosphodiesterases (PDEs) play a role in signal transduction by regulating intracellular cyclic nucleotide concentrations through hydrolysis of cAMP and/or cGMP to their respective nucleoside 5-prime monophosphates. Members of the PDE1 f
• OMIM: 171890

SNPs

rs587777044

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000003.12   g.50343331dup
NC_000003.11   g.50380762dup
NG_023270.1   g.2606dup
NG_042828.1   g.7416dup
NM_015896.4   c.486dup
NM_015896.3   c.486dup
NM_015896.2   c.486dup
NM_001308379.2   c.486dup
NM_001308379.1   c.486dup
XM_005265216.3   c.249dup
XM_005265216.1   c.

rs587777043

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000003.12   g.50343753del
NC_000003.11   g.50381184del
NG_023270.1   g.2185del
NG_042828.1   g.6995del
NM_015896.4   c.300del
NM_015896.3   c.300del
NM_015896.2   c.300del
NM_001308379.2   c.300del
NM_001308379.1   c.300del
XM_005265216.3   c.63del
XM_005265216.1   c.6

rs397515460

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.50342047G>A
NC_000003.11   g.50379478G>A
NG_023270.1   g.3890C>T
NG_042828.1   g.8700C>T
NM_015896.4   c.967C>T
NM_015896.3   c.967C>T
NM_015896.2   c.967C>T
NM_001308379.2   c.952C>T
NM_001308379.1   c.952C>T
XM_005265216.3   c.730C>T
XM_005265216.1   c.

rs200913791

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.50342473A>G
NC_000003.11   g.50379904A>G
NG_023270.1   g.3464T>C
NG_042828.1   g.8274T>C
NM_015896.4   c.797T>C
NM_015896.3   c.797T>C
NM_015896.2   c.797T>C
NM_001308379.2   c.782T>C
NM_001308379.1   c.782T>C
XM_005265216.3   c.560T>C
XM_005265216.1   c.

rs138815960

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.50345533A>C
NC_000003.11   g.50382964A>C
NG_023270.1   g.404T>G
NG_042828.1   g.5214T>G
NM_015896.4   c.47T>G
NM_015896.3   c.47T>G
NM_015896.2   c.47T>G
NM_001308379.2   c.47T>G
NM_001308379.1   c.47T>G
XM_005265216.3   c.-82T>G
XM_005265216.1   c.-82T>G

Protein Summary

• Protein general information: P54750  
  • Name: Calcium/calmodulin dependent 3',5' cyclic nucleotide phosphodiesterase 1A (Cam PDE 1A) (EC 3.1.4.17) (61 kDa Cam PDE) (hCam 1)
  • Length: 535  
  • Mass: 61252
  • Tissue specificity: Several tissues, including brain, kidney, testes and heart.
• Sequence:

  MGSSATEIEELENTTFKYLTGEQTEKMWQRLKGILRCLVKQLERGDVNVVDLKKNIEYAASVLEAVYIDETRRLL
  DTEDELSDIQTDSVPSEVRDWLASTFTRKMGMTKKKPEEKPKFRSIVHAVQAGIFVERMYRKTYHMVGLAYPAAV
  IVTLKDVDKWSFDVFALNEASGEHSLKFMIYELFTRYDLINRFKIPVSCLITFAEALEVGYSKYKNPYHNLIHAA
  DVTQTVHYIMLHTGIMHWLTELEILAMVFAAAIHDYEHTGTTNNFHIQTRSDVAILYNDRSVLENHHVSAAYRLM
  QEEEMNILINLSKDDWRDLRNLVIEMVLSTDMSGHFQQIKNIRNSLQQPEGIDRAKTMSLILHAADISHPAKSWK
  LHYRWTMALMEEFFLQGDKEAELGLPFSPLCDRKSTMVAQSQIGFIDFIVEPTFSLLTDSTEKIVIPLIEEASKA
  ETSSYVASSSTTIVGLHIADALRRSNTKGSMSDGSYSPDYSLAAVDLKSFKNNLVDIIQQNKERWKELAAQEART
  SSQKCEFIHQ

• Structural information:
  • Protein Domains: (142..52-)
    (/note="PDEase-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01192"-)
  • Interpro: IPR003607  IPR023088  IPR002073  IPR036971  IPR023174   IPR013706  
  • Prosite: PS00126 PS51845
  • CDD: cd00077
  • PDB: 1LXQ
  • PDBsum: 1LXQ
  • STRING: ENSP00000410309
• Other Databases: GeneCards:  PDE1A  Malacards:  PDE1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0048101	calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity	IBA	molecular function
GO:0043025	neuronal cell body	IBA	cellular component
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:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0004117	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity	TAS	molecular function
GO:0004114	3',5'-cyclic-nucleotide phosphodiesterase activity	IEA	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0048101	calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity	IEA	molecular function
GO:0048660	regulation of smooth muscle cell proliferation	IEA	biological process
GO:0048101	calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity	IEA	molecular function
GO:0046069	cGMP catabolic process	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0034391	regulation of smooth muscle cell apoptotic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0048101	calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity	ISS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04020	Calcium signaling pathway
hsa00230	Purine metabolism
hsa04740	Olfactory transduction
hsa05032	Morphine addiction
hsa04742	Taste transduction
hsa04924	Renin secretion
P06959	CCKR signaling map

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray