Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5153
Gene name	Phosphodiesterase 1B
Gene symbol	PDE1B
Synonyms (NCBI Gene)	HEL-S-79pPDE1B1PDES1B
Chromosome	12
Chromosome location	12q13.2
Summary	The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE1 subfamily. Members of the PDE1 family are calmodulin-dependent PDEs that are stimulated by a calcium-calmodulin complex. This PDE has dual-specifici

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miRTarBase ID	miRNA	Experiments	Reference
MIRT725251	hsa-miR-6504-5p	HITS-CLIP	19536157
MIRT725250	hsa-miR-3064-5p	HITS-CLIP	19536157
MIRT725249	hsa-miR-149-5p	HITS-CLIP	19536157
MIRT725248	hsa-miR-326	HITS-CLIP	19536157
MIRT725247	hsa-miR-330-5p	HITS-CLIP	19536157
MIRT725246	hsa-miR-5088-3p	HITS-CLIP	19536157
MIRT725245	hsa-miR-1248	HITS-CLIP	19536157
MIRT725244	hsa-miR-518c-5p	HITS-CLIP	19536157
MIRT725243	hsa-miR-6764-3p	HITS-CLIP	19536157
MIRT725242	hsa-miR-6824-3p	HITS-CLIP	19536157
MIRT725241	hsa-miR-4794	HITS-CLIP	19536157
MIRT725240	hsa-miR-664a-5p	HITS-CLIP	19536157
MIRT725239	hsa-miR-2117	HITS-CLIP	19536157
MIRT725238	hsa-miR-5701	HITS-CLIP	19536157
MIRT725237	hsa-miR-3191-5p	HITS-CLIP	19536157
MIRT725236	hsa-miR-4273	HITS-CLIP	19536157
MIRT725235	hsa-miR-7156-5p	HITS-CLIP	19536157
MIRT725234	hsa-miR-4677-5p	HITS-CLIP	19536157
MIRT725233	hsa-miR-6739-3p	HITS-CLIP	19536157
MIRT725251	hsa-miR-6504-5p	HITS-CLIP	19536157
MIRT725250	hsa-miR-3064-5p	HITS-CLIP	19536157
MIRT725249	hsa-miR-149-5p	HITS-CLIP	19536157
MIRT725248	hsa-miR-326	HITS-CLIP	19536157
MIRT725247	hsa-miR-330-5p	HITS-CLIP	19536157
MIRT725246	hsa-miR-5088-3p	HITS-CLIP	19536157
MIRT725245	hsa-miR-1248	HITS-CLIP	19536157
MIRT725244	hsa-miR-518c-5p	HITS-CLIP	19536157
MIRT725243	hsa-miR-6764-3p	HITS-CLIP	19536157
MIRT725242	hsa-miR-6824-3p	HITS-CLIP	19536157
MIRT725241	hsa-miR-4794	HITS-CLIP	19536157
MIRT725240	hsa-miR-664a-5p	HITS-CLIP	19536157
MIRT725239	hsa-miR-2117	HITS-CLIP	19536157
MIRT725238	hsa-miR-5701	HITS-CLIP	19536157
MIRT725237	hsa-miR-3191-5p	HITS-CLIP	19536157
MIRT725236	hsa-miR-4273	HITS-CLIP	19536157
MIRT725235	hsa-miR-7156-5p	HITS-CLIP	19536157
MIRT725234	hsa-miR-4677-5p	HITS-CLIP	19536157
MIRT725233	hsa-miR-6739-3p	HITS-CLIP	19536157
MIRT1220212	hsa-miR-1270	CLIP-seq
MIRT1220213	hsa-miR-1273f	CLIP-seq
MIRT1220214	hsa-miR-3125	CLIP-seq
MIRT1220215	hsa-miR-3135b	CLIP-seq
MIRT1220216	hsa-miR-3150b-3p	CLIP-seq
MIRT1220217	hsa-miR-3173-3p	CLIP-seq
MIRT1220218	hsa-miR-3675-5p	CLIP-seq
MIRT1220219	hsa-miR-3916	CLIP-seq
MIRT1220220	hsa-miR-4283	CLIP-seq
MIRT1220221	hsa-miR-4293	CLIP-seq
MIRT1220222	hsa-miR-4489	CLIP-seq
MIRT1220223	hsa-miR-4656	CLIP-seq
MIRT1220224	hsa-miR-4683	CLIP-seq
MIRT1220225	hsa-miR-4689	CLIP-seq
MIRT1220226	hsa-miR-4784	CLIP-seq
MIRT1220227	hsa-miR-503	CLIP-seq
MIRT1220228	hsa-miR-544b	CLIP-seq
MIRT1220229	hsa-miR-620	CLIP-seq
MIRT1220230	hsa-miR-765	CLIP-seq
MIRT1220217	hsa-miR-3173-3p	CLIP-seq
MIRT2063605	hsa-miR-4476	CLIP-seq
MIRT2063606	hsa-miR-1915	CLIP-seq
MIRT2439244	hsa-miR-3663-5p	CLIP-seq
MIRT2439245	hsa-miR-4287	CLIP-seq
MIRT2439246	hsa-miR-4469	CLIP-seq
MIRT2439247	hsa-miR-4685-3p	CLIP-seq
MIRT2439244	hsa-miR-3663-5p	CLIP-seq
MIRT2439245	hsa-miR-4287	CLIP-seq
MIRT2439246	hsa-miR-4469	CLIP-seq
MIRT2439247	hsa-miR-4685-3p	CLIP-seq
MIRT2439245	hsa-miR-4287	CLIP-seq
MIRT2589689	hsa-miR-432	CLIP-seq
MIRT2589690	hsa-miR-4468	CLIP-seq
MIRT2439247	hsa-miR-4685-3p	CLIP-seq
MIRT2589691	hsa-miR-4780	CLIP-seq
MIRT2589692	hsa-miR-623	CLIP-seq
MIRT2439245	hsa-miR-4287	CLIP-seq
MIRT2589689	hsa-miR-432	CLIP-seq
MIRT2589690	hsa-miR-4468	CLIP-seq
MIRT2439247	hsa-miR-4685-3p	CLIP-seq
MIRT2589691	hsa-miR-4780	CLIP-seq
MIRT2589692	hsa-miR-623	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001975	Process	Response to amphetamine	IEA
GO:0004112	Function	Cyclic-nucleotide phosphodiesterase activity	IEA
GO:0004114	Function	3',5'-cyclic-nucleotide phosphodiesterase activity	IEA
GO:0004115	Function	3',5'-cyclic-AMP phosphodiesterase activity	IDA	14687666
GO:0004115	Function	3',5'-cyclic-AMP phosphodiesterase activity	IEA
GO:0004115	Function	3',5'-cyclic-AMP phosphodiesterase activity	IMP	8855339
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	9419816
GO:0005515	Function	Protein binding	IPI	21044950
GO:0005516	Function	Calmodulin binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	8855339
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0008081	Function	Phosphoric diester hydrolase activity	IEA
GO:0008542	Process	Visual learning	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030224	Process	Monocyte differentiation	IEP	14687666
GO:0036006	Process	Cellular response to macrophage colony-stimulating factor stimulus	IDA	14687666
GO:0042420	Process	Dopamine catabolic process	IEA
GO:0042428	Process	Serotonin metabolic process	IEA
GO:0043025	Component	Neuronal cell body	IBA
GO:0043025	Component	Neuronal cell body	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0047555	Function	3',5'-cyclic-GMP phosphodiesterase activity	IDA	14687666
GO:0047555	Function	3',5'-cyclic-GMP phosphodiesterase activity	IEA
GO:0048101	Function	Calmodulin-activated 3',5'-cyclic-GMP phosphodiesterase activity	IBA
GO:0097011	Process	Cellular response to granulocyte macrophage colony-stimulating factor stimulus	IDA	14687666
GO:0141162	Process	Negative regulation of cAMP/PKA signal transduction	IBA

MIM	HGNC	e!Ensembl
171891	8775	ENSG00000123360

Q01064

Protein name

Dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B (Cam-PDE 1B) (EC 3.1.4.17) (63 kDa Cam-PDE)

Protein function

Cyclic nucleotide phosphodiesterase with a dual specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes (PubMed:15260978, PubMed:8855339, PubMed:9419816). Has a preference for cGMP

PDB

1TAZ , 4NPV , 4NPW , 5B25 , 5UOY , 5UP0 , 5W6E

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08499	PDEase_I_N	77 → 137		Family
PF00233	PDEase_I	222 → 450		Domain

Sequence

MELSPRSPPEMLEESDCPSPLELKSAPSKKMWIKLRSLLRYMVKQLENGEINIEELKKNL
EYTASLLEAVYIDETRQILDTEDELQELRSDAVPSEVRDWLASTFTQQARAKGRRAEEKP
KFRSIVHAVQAGIFVERMFRRTYTSVGPTYSTAVLNCLKNLDLWCFDVFSLNQAADDHAL
RTIVFELLTRHNLISRFKIPTVFLMSFLDALETGYGKYKNPYHNQIHAADVTQTVHCFLL
RTGMVHCLSEIELLAIIFAAAIHDYEHTGTTNSFHIQTKSECAIVYNDRSVLENHHISSV
FRLMQDDEMNIFINLTKDEFVELRALVIEMVLATDMSCHFQQVKTMKTALQQLERIDKPK
ALSLLLHAADISHPTKQWLVHSRWTKALMEEFFRQGDKEAELGLPFSPLCDRTSTLVAQS
QIGFIDFIVEPTFSVLTDVAEKSVQPLADEDSKSKNQPSFQWRQPSLDVEVGDPNPDVVS
FRSTWVKRIQENKQKWKERAASGITNQMSIDELSPCEEEAPPSPAEDEHNQNGNLD

Sequence length

536

Interactions

View interactions

	KEGG		Reactome
	Purine metabolism Metabolic pathways Calcium signaling pathway Olfactory transduction Taste transduction Renin secretion Morphine addiction		Cam-PDE 1 activation cGMP effects G alpha (s) signalling events

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)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Cerebellar ataxia	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Delayed speech and language development	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotonia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEARNING DISABILITIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEARNING DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Moderate intellectual disability	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Hepatocellular	Associate	24743702	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	34497681	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Associate	8855339	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Associate	24743702	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Associate	36807122	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Associate	33281116, 36807122	★★★★★ ★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Associate	37466160	★★★★★ ★☆☆☆☆ Found in Text Mining only

PDE1B (phosphodiesterase 1B)