PDE1C - phosphodiesterase 1C Gene

Also Known as Hcam3; DFNA74; hCam-3; cam-PDE 1C

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5137

About PDE1C

Cytogenetic location: 7p14.3 Genomic coordinates (GRCh38): 7:31,616,777-32,428,224 (from NCBI)

This gene has 12 transcripts (splice variants), 323 orthologues, 20 paralogues and is associated with 2 phenotypes. Biased expression in heart (RPKM 9.1), brain (RPKM 4.0) and 12 other tissues.

Summary

This gene encodes an enzyme that belongs to the 3'5'-cyclic nucleotide phosphodiesterase family. Members of this family catalyze hydrolysis of the cyclic nucleotides, cyclic adenosine monophosphate and cyclic guanosine monophosphate, to the corresponding nucleoside 5'-monophosphates. The enzyme encoded by this gene regulates proliferation and migration of vascular smooth muscle cells, and neointimal hyperplasia. This enzyme also plays a role in pathological vascular remodeling by regulating the stability of growth factor receptors, such as PDGF-receptor-beta. [provided by RefSeq, Jul 2016]

PDE1C Products (10)

mRNA	Protein	Name
NM_001191056.3	NP_001177985.1	dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 1
NM_001191057.4	NP_001177986.1	dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 2
NM_001191058.4	NP_001177987.2	dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 3
NM_001191059.4	NP_001177988.1	dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 2
NM_001322055.2	NP_001308984.1	dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 2
NM_001322056.2	NP_001308985.1	dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 1
NM_001322057.2	NP_001308986.1	dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 1
NM_001322058.2	NP_001308987.1	dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 4
NM_001322059.2	NP_001308988.1	dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 5
NM_005020.5	NP_005011.1	dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Références	Source
enables 3',5'-cyclic-AMP phosphodiesterase activity	IDA IDA: Inferred from direct assay	29860631	GOA
enables 3',5'-cyclic-GMP phosphodiesterase activity	IDA IDA: Inferred from direct assay	29860631	GOA
enables calmodulin-activated dual specificity 3',5'-cyclic-GMP, 3',5'-cyclic-AMP phosphodiesterase activity	IDA IDA: Inferred from direct assay	8557689	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PDE1C Protein Structure

PDEase_I_N

PDEase_I

0
200
400
600
709 a.a.

Protein Preferred Names	Protein Names
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C	3',5'-cyclic-AMP phosphodiesterase

Protein Preferred Names

Protein Names

dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C

calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C

3',5'-cyclic-AMP phosphodiesterase

Related Diseases

Diseases	Alias
Deafness, Autosomal Dominant 74	DFNA74 Deafness, Autosomal Dominant, 74
Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	Autosomal Dominant Isolated Neurosensory Deafness Type Dfna Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna Autosomal Dominant Isolated Sensorineural Deafness Type Dfna Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna
Autosomal Dominant Nonsyndromic Deafness 74	Dfna74
Compensatory Emphysema
Deafness, Autosomal Dominant 41	DFNA41 Autosomal Dominant Nonsyndromic Deafness 41 Autosomal Dominant Deafness 41 Deafness, Autosomal Dominant, 41 Deafness, Autosomal Dominant, Type 41

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (2)

Cat. No.	Nom du produit	Effect	Pureté	Phase
HY-12501A	ITI-214	Inhibitor	99.56%	Phase 2
HY-112831	Osoresnontrine	Inhibitor	99.94%	Phase 2

Pre-clinical Phase

Bioactive Molecules (14)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-101490	PDE1-IN-2	Inhibitor	98.0%	Unkown
HY-169402	PDE1-IN-9	Inhibitor	/	Unkown
HY-169402A	PDE1-IN-9 hydrochloride	Inhibitor	/	Unkown
HY-12501	ITI-214 free base	Inhibitor	98.0%	Unkown
HY-120741	PF-04822163	Inhibitor	/	Unkown
HY-120195	PF-04677490	Inhibitor	/	Unkown
HY-120195A	PF-04827736	Inhibitor	/	Unkown
HY-147946	PDE1-IN-4	Inhibitor	/	Unkown
HY-155199	PDE1-IN-5	Inhibitor	/	Unkown
HY-RS10212	PDE1C Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-N11262	Sudachitin		/	Unkown
HY-RS19228	Pde1c Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25717	Pde1c Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-U00374	Sch59498	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PDE1C	MGD	MGI:108413
Rattus norvegicus	PDE1C	RGD	RGD:68332
Canis familiaris	PDE1C	VGNC	VGNC:44350
Bos taurus	PDE1C	VGNC	VGNC:32673
Macaca mulatta	PDE1C	VGNC	VGNC:75911
Felis catus	PDE1C	VGNC	VGNC:68754
Others	PDE1C	NCBI