PDE1A (phosphodiesterase 1A)

Gene

• Entrez ID: 5136
• Gene name: Phosphodiesterase 1A
• Gene symbol: PDE1A
• Synonyms (NCBI Gene): CAM-PDE 1A, CAM-PDE-1A, HCAM-1, HCAM1, HSPDE1A
• Chromosome: 2
• Chromosome location: 2q32.1
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT646720	hsa-miR-1264	HITS-CLIP	23824327
MIRT646719	hsa-miR-8063	HITS-CLIP	23824327
MIRT646718	hsa-miR-4698	HITS-CLIP	23824327
MIRT646717	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT646716	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT646715	hsa-miR-5695	HITS-CLIP	23824327
MIRT646714	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT646713	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT646712	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT646711	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT646710	hsa-miR-133b	HITS-CLIP	23824327
MIRT646720	hsa-miR-1264	HITS-CLIP	23824327
MIRT646719	hsa-miR-8063	HITS-CLIP	23824327
MIRT646718	hsa-miR-4698	HITS-CLIP	23824327
MIRT646717	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT646716	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT646715	hsa-miR-5695	HITS-CLIP	23824327
MIRT646714	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT646713	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT646712	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT646711	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT646710	hsa-miR-133b	HITS-CLIP	23824327
MIRT646720	hsa-miR-1264	HITS-CLIP	23824327
MIRT646719	hsa-miR-8063	HITS-CLIP	23824327
MIRT646718	hsa-miR-4698	HITS-CLIP	23824327
MIRT646717	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT646716	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT646715	hsa-miR-5695	HITS-CLIP	23824327
MIRT646714	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT646713	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT646712	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT646711	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT646710	hsa-miR-133b	HITS-CLIP	23824327
MIRT646720	hsa-miR-1264	HITS-CLIP	23824327
MIRT646719	hsa-miR-8063	HITS-CLIP	23824327
MIRT646718	hsa-miR-4698	HITS-CLIP	23824327
MIRT646717	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT646716	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT646715	hsa-miR-5695	HITS-CLIP	23824327
MIRT646714	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT646713	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT646712	hsa-miR-5587-5p	HITS-CLIP	23824327
MIRT646711	hsa-miR-133a-3p	HITS-CLIP	23824327
MIRT646710	hsa-miR-133b	HITS-CLIP	23824327
MIRT1220191	hsa-miR-298	CLIP-seq
MIRT1220192	hsa-miR-3120-5p	CLIP-seq
MIRT1220193	hsa-miR-3148	CLIP-seq
MIRT1220194	hsa-miR-345	CLIP-seq
MIRT1220195	hsa-miR-3977	CLIP-seq
MIRT1220196	hsa-miR-4267	CLIP-seq
MIRT1220197	hsa-miR-4268	CLIP-seq
MIRT1220198	hsa-miR-4310	CLIP-seq
MIRT1220199	hsa-miR-4668-5p	CLIP-seq
MIRT1220200	hsa-miR-4752	CLIP-seq
MIRT1220201	hsa-miR-548a-3p	CLIP-seq
MIRT1220202	hsa-miR-548ac	CLIP-seq
MIRT1220203	hsa-miR-548ae	CLIP-seq
MIRT1220204	hsa-miR-548aj	CLIP-seq
MIRT1220205	hsa-miR-548am	CLIP-seq
MIRT1220206	hsa-miR-548d-3p	CLIP-seq
MIRT1220207	hsa-miR-548e	CLIP-seq
MIRT1220208	hsa-miR-548f	CLIP-seq
MIRT1220209	hsa-miR-548g	CLIP-seq
MIRT1220210	hsa-miR-548x	CLIP-seq
MIRT1220211	hsa-miR-548z	CLIP-seq
MIRT2292081	hsa-miR-1179	CLIP-seq
MIRT2292082	hsa-miR-3194-3p	CLIP-seq
MIRT1220195	hsa-miR-3977	CLIP-seq
MIRT2292083	hsa-miR-4502	CLIP-seq
MIRT2392268	hsa-miR-1265	CLIP-seq
MIRT2392269	hsa-miR-2392	CLIP-seq
MIRT2392270	hsa-miR-4307	CLIP-seq
MIRT2392271	hsa-miR-4728-3p	CLIP-seq
MIRT2392272	hsa-miR-580	CLIP-seq
MIRT2392273	hsa-miR-651	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004114	Function	3',5'-cyclic-nucleotide phosphodiesterase activity	IEA
GO:0004115	Function	3',5'-cyclic-AMP phosphodiesterase activity	IEA
GO:0004117	Function	Calmodulin-activated dual specificity 3',5'-cyclic-GMP, 3',5'-cyclic-AMP phosphodiesterase activity	IBA
GO:0004117	Function	Calmodulin-activated dual specificity 3',5'-cyclic-GMP, 3',5'-cyclic-AMP phosphodiesterase activity	IDA	8557689
GO:0004117	Function	Calmodulin-activated dual specificity 3',5'-cyclic-GMP, 3',5'-cyclic-AMP phosphodiesterase activity	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005516	Function	Calmodulin binding	IEA
GO:0005829	Component	Cytosol	TAS
GO:0007165	Process	Signal transduction	IEA
GO:0008081	Function	Phosphoric diester hydrolase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0034391	Process	Regulation of smooth muscle cell apoptotic process	IEA
GO:0043025	Component	Neuronal cell body	IBA
GO:0043025	Component	Neuronal cell body	IEA
GO:0046069	Process	CGMP catabolic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0047555	Function	3',5'-cyclic-GMP phosphodiesterase activity	IEA
GO:0048101	Function	Calmodulin-activated 3',5'-cyclic-GMP phosphodiesterase activity	IBA
GO:0048101	Function	Calmodulin-activated 3',5'-cyclic-GMP phosphodiesterase activity	IEA
GO:0048101	Function	Calmodulin-activated 3',5'-cyclic-GMP phosphodiesterase activity	ISS
GO:0048660	Process	Regulation of smooth muscle cell proliferation	IEA
GO:0141162	Process	Negative regulation of cAMP/PKA signal transduction	IBA

Other IDs

• MIM: 171890
• HGNC: 8774
• e!Ensembl: ENSG00000115252

Protein

• UniProt ID: P54750
• Protein name: Dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A (Cam-PDE 1A) (EC 3.1.4.17) (61 kDa Cam-PDE) (hCam-1)
• Protein function: Calcium/calmodulin-dependent cyclic nucleotide phosphodiesterase with a dual specificity for the second messengers cGMP and cAMP, which are key regulators of many important physiological processes. Has a higher efficiency with cGMP compared to c
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08499	PDEase_I_N	73 → 133		Family
  PF00233	PDEase_I	218 → 446		Domain

• Tissue specificity: TISSUE SPECIFICITY: Several tissues, including brain, kidney, testes and heart.
• Sequence:

  MGSSATEIEELENTTFKYLTGEQTEKMWQRLKGILRCLVKQLERGDVNVVDLKKNIEYAA
  SVLEAVYIDETRRLLDTEDELSDIQTDSVPSEVRDWLASTFTRKMGMTKKKPEEKPKFRS
  IVHAVQAGIFVERMYRKTYHMVGLAYPAAVIVTLKDVDKWSFDVFALNEASGEHSLKFMI
  YELFTRYDLINRFKIPVSCLITFAEALEVGYSKYKNPYHNLIHAADVTQTVHYIMLHTGI
  MHWLTELEILAMVFAAAIHDYEHTGTTNNFHIQTRSDVAILYNDRSVLENHHVSAAYRLM
  QEEEMNILINLSKDDWRDLRNLVIEMVLSTDMSGHFQQIKNIRNSLQQPEGIDRAKTMSL
  ILHAADISHPAKSWKLHYRWTMALMEEFFLQGDKEAELGLPFSPLCDRKSTMVAQSQIGF
  IDFIVEPTFSLLTDSTEKIVIPLIEEASKAETSSYVASSSTTIVGLHIADALRRSNTKGS
  MSDGSYSPDYSLAAVDLKSFKNNLVDIIQQNKERWKELAAQEARTSSQKCEFIHQ

• Sequence length: 535

Pathways

KEGG:

Purine metabolism
Metabolic pathways
Calcium signaling pathway
Olfactory transduction
Taste transduction
Renin secretion
Morphine addiction

Reactome:

Cam-PDE 1 activation
cGMP effects
G alpha (s) signalling events

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PDE1A-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY ARTERIAL HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPERMATOCELE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	20807569		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	16514069		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28971320	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	22929023	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	37125963	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	38179743	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	37125963	Associate	★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	BEFREE	28750036, 29262781		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	37125963	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	37063851	Associate	★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	16980375	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	16980375	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	29088834		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	29262781		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	29262781	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases Cystic	Kidney disease	Pubtator	29262781	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	22480177		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30247633		★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	30596980	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	37125963	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrolithiasis	Nephrolithiasis	BEFREE	29262781		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	Pubtator	29262781	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	28750036		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	20807569		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28816543		★☆☆☆☆ Found in Text Mining only