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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5137
Gene name Gene Name - the full gene name approved by the HGNC.	Phosphodiesterase 1C
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PDE1C
Synonyms (NCBI Gene) Gene synonyms aliases	DFNA74, Hcam3, cam-PDE 1C, hCam-3
Disease Acronyms (UniProt) Disease acronyms from UniProt database	DFNA74
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7p14.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs775633137	C>A	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant

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miRTarBase ID	miRNA	Experiments
MIRT1220231	hsa-miR-1253	CLIP-seq
MIRT1220232	hsa-miR-1270	CLIP-seq
MIRT1220233	hsa-miR-3185	CLIP-seq
MIRT1220234	hsa-miR-3190	CLIP-seq
MIRT1220235	hsa-miR-4428	CLIP-seq
MIRT1220236	hsa-miR-4434	CLIP-seq
MIRT1220237	hsa-miR-4516	CLIP-seq
MIRT1220238	hsa-miR-4531	CLIP-seq
MIRT1220239	hsa-miR-4696	CLIP-seq
MIRT1220240	hsa-miR-4766-5p	CLIP-seq
MIRT1220241	hsa-miR-488	CLIP-seq
MIRT1220242	hsa-miR-570	CLIP-seq
MIRT1220243	hsa-miR-620	CLIP-seq
MIRT1220244	hsa-miR-7	CLIP-seq
MIRT1220245	hsa-miR-885-3p	CLIP-seq
MIRT1220246	hsa-miR-1284	CLIP-seq
MIRT1220247	hsa-miR-1303	CLIP-seq
MIRT1220248	hsa-miR-300	CLIP-seq
MIRT1220249	hsa-miR-3144-3p	CLIP-seq
MIRT1220250	hsa-miR-381	CLIP-seq
MIRT1220251	hsa-miR-4666-3p	CLIP-seq
MIRT1220252	hsa-miR-4796-5p	CLIP-seq
MIRT1220253	hsa-miR-1285	CLIP-seq
MIRT1220247	hsa-miR-1303	CLIP-seq
MIRT1220249	hsa-miR-3144-3p	CLIP-seq
MIRT1220254	hsa-miR-3187-5p	CLIP-seq
MIRT1220255	hsa-miR-378g	CLIP-seq
MIRT1220256	hsa-miR-4486	CLIP-seq
MIRT1220257	hsa-miR-612	CLIP-seq
MIRT2063607	hsa-miR-3165	CLIP-seq
MIRT2063608	hsa-miR-5096	CLIP-seq
MIRT2063609	hsa-miR-579	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0004114	Function	3',5'-cyclic-nucleotide phosphodiesterase activity	IBA	21873635
GO:0004117	Function	Calmodulin-dependent cyclic-nucleotide phosphodiesterase activity	TAS	8557689
GO:0005516	Function	Calmodulin binding	IEA
GO:0005829	Component	Cytosol	TAS
GO:0007165	Process	Signal transduction	IBA	21873635
GO:0043025	Component	Neuronal cell body	IBA	21873635
GO:0046872	Function	Metal ion binding	IEA
GO:0048101	Function	Calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity	IBA	21873635

MIM	HGNC	e!Ensembl
602987	8776	ENSG00000154678

Protein

UniProt ID

Q14123

Protein name

Dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C (Cam-PDE 1C) (EC 3.1.4.17) (Hcam3)

Protein function

Calmodulin-dependent cyclic nucleotide phosphodiesterase with a dual specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes (PubMed:29860631, PubMed:8557689). Has a high affinity f

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08499	PDEase_I_N	82 → 142		Family
PF00233	PDEase_I	227 → 458		Domain

Tissue specificity

TISSUE SPECIFICITY: Isoform PDE1C2 is present in the heart and brain and, at lower levels in the lung, liver, kidney and skeletal muscle (PubMed:8557689). Isoform PDE1C1 is expressed in the heart and brain and, at lower levels in lung (PubMed:8557689). Al

Sequence

MESPTKEIEEFESNSLKYLQPEQIEKIWLRLRGLRKYKKTSQRLRSLVKQLERGEASVVD
LKKNLEYAATVLESVYIDETRRLLDTEDELSDIQSDAVPSEVRDWLASTFTRQMGMMLRR
SDEKPRFKSIVHAVQAGIFVERMYRRTSNMVGLSYPPAVIEALKDVDKWSFDVFSLNEAS
GDHALKFIFYELLTRYDLISRFKIPISALVSFVEALEVGYSKHKNPYHNLMHAADVTQTV
HYLLYKTGVANWLTELEIFAIIFSAAIHDYEHTGTTNNFHIQTRSDPAILYNDRSVLENH
HLSAAYRLLQDDEEMNILINLSKDDWREFRTLVIEMVMATDMSCHFQQIKAMKTALQQPE
AIEKPKALSLMLHTADISHPAKAWDLHHRWTMSLLEEFFRQGDREAELGLPFSPLCDRKS
TMVAQSQVGFIDFIVEPTFTVLTDMTEKIVSPLIDETSQTGGTGQRRSSLNSISSSDAKR
SGVKTSGSEGSAPINNSVISVDYKSFKATWTEVVHINRERWRAKVPKEEKAKKEAEEKAR
LAAEEQQKEMEAKSQAEEGASGKAEKKTSGETKNQVNGTRANKSDNPRGKNSKAEKSSGE
QQQNGDFKDGKNKTDKKDHSNIGNDSKKTDGTKQRSHGSPAPSTSSTCRLTLPVIKPPLR
HFKRPAYASSSYAPSVSKKTDEHPARYKMLDQRIKMKKIQNISHNWNRK

Sequence length

709

Interactions

View interactions

	KEGG		Reactome
	Purine metabolism Metabolic pathways Calcium signaling pathway Olfactory transduction Taste transduction Renin secretion Morphine addiction		Cam-PDE 1 activation

Show/Hide Causal Diseases (2)

Disease term	Disease name	dbSNP ID	References
Causal
Arthritis	Degenerative polyarthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	22763110
Deafness	DEAFNESS, AUTOSOMAL DOMINANT 74	rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs606231120, rs267606855, rs121918370, rs137853185, rs137853186, rs137853187, rs137853188, rs587776522, rs587776523, rs200781822 View all (1019 more)	29860631

Show/Hide Unknown Diseases (10)

Disease term	Disease name	Evidence	References	Source
Unknown
Endometriosis	Endometriosis		23472165	ClinVar, GWAS
Neuroticism	Neuroticism			GWAS
Gout	Gout			GWAS
Metabolic Syndrome	Metabolic Syndrome			GWAS
Colorectal Cancer	Colorectal Cancer	In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1.		GWAS, CBGDA
Gastroesophageal Reflux Disease	Gastroesophageal Reflux Disease			GWAS
Moyamoya Disease	Moyamoya Disease			GWAS
Coronary artery disease	Coronary artery disease			GWAS
Insomnia	Insomnia			GWAS
Diabetes	Diabetes			GWAS

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text Mining
Amyotrophic lateral sclerosis 1	Associate	35853630
Asthenozoospermia	Associate	27232852
Diabetes Mellitus Type 2	Associate	38137029
Familial Primary Pulmonary Hypertension	Stimulate	16980375
Hypertension Pulmonary	Associate	16980375
Melanoma	Associate	19414353, 27344179
Myopia	Associate	34241624
Neoplasms	Associate	35190823

PDE1C (phosphodiesterase 1C)