1. Gene
  2. PDE1C - phosphodiesterase 1C Gene

PDE1C - phosphodiesterase 1C Gene

Homo sapiens

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

Gene ID: 5137 | Gene type: protein coding

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 Reference 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_N: 3'5'-cyclic nucleotide phosphodiesterase N-terminal (82 - 142)

PDEase_I

PDEase_I: 3'5'-cyclic nucleotide phosphodiesterase (227 - 456)

  • 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

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

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