• Gene id: 5137

Gene Summary

• Gene Symbol: PDE1C   Gene   UCSC   Ensembl
• Aliases: DFNA74, Hcam3, cam-PDE 1C, hCam-3
• Gene name: phosphodiesterase 1C
• Alternate names: calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C, 3',5'-cyclic-AMP phosphodiesterase, 3',5'-cyclic-GMP phosphodiesterase, Human 3',5' cyclic nucleotide phosphodiesterase (HSPDE1C1A), phosphodiesterase 1C, calmodulin-dependent 70kDa,
• Gene location: 7p14.3 (32428223: 31616776)     Exons: 32     NC_000007.14
• Gene summary(Entrez): 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
• OMIM: 602987

SNPs

rs6476866

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.4459274G>A
NC_000009.12   g.4459274G>C
NC_000009.11   g.4459274G>A
NC_000009.11   g.4459274G>C|SEQ=[G/A/C]

Protein Summary

• Protein general information: Q14123  
  • Name: Calcium/calmodulin dependent 3',5' cyclic nucleotide phosphodiesterase 1C (Cam PDE 1C) (3',5' cyclic AMP phosphodiesterase) (EC 3.1.4. ) (3',5' cyclic GMP phosphodiesterase) (EC 3.1.4.35) (Hcam3)
  • Length: 709  
  • Mass: 80760
  • Tissue specificity: Isoform PDE1C2 is present in the heart and brain and, at lower levels in the lung, liver, kidney and skeletal muscle (PubMed
• Sequence:

  MESPTKEIEEFESNSLKYLQPEQIEKIWLRLRGLRKYKKTSQRLRSLVKQLERGEASVVDLKKNLEYAATVLESV
  YIDETRRLLDTEDELSDIQSDAVPSEVRDWLASTFTRQMGMMLRRSDEKPRFKSIVHAVQAGIFVERMYRRTSNM
  VGLSYPPAVIEALKDVDKWSFDVFSLNEASGDHALKFIFYELLTRYDLISRFKIPISALVSFVEALEVGYSKHKN
  PYHNLMHAADVTQTVHYLLYKTGVANWLTELEIFAIIFSAAIHDYEHTGTTNNFHIQTRSDPAILYNDRSVLENH
  HLSAAYRLLQDDEEMNILINLSKDDWREFRTLVIEMVMATDMSCHFQQIKAMKTALQQPEAIEKPKALSLMLHTA
  DISHPAKAWDLHHRWTMSLLEEFFRQGDREAELGLPFSPLCDRKSTMVAQSQVGFIDFIVEPTFTVLTDMTEKIV
  SPLIDETSQTGGTGQRRSSLNSISSSDAKRSGVKTSGSEGSAPINNSVISVDYKSFKATWTEVVHINRERWRAKV
  PKEEKAKKEAEEKARLAAEEQQKEMEAKSQAEEGASGKAEKKTSGETKNQVNGTRANKSDNPRGKNSKAEKSSGE
  QQQNGDFKDGKNKTDKKDHSNIGNDSKKTDGTKQRSHGSPAPSTSSTCRLTLPVIKPPLRHFKRPAYASSSYAPS
  VSKKTDEHPARYKMLDQRIKMKKIQNISHNWNRK

• Structural information:
  • Protein Domains: (151..52-)
    (/note="PDEase-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01192"-)
  • Interpro: IPR003607  IPR023088  IPR002073  IPR036971  IPR023174   IPR013706  
  • Prosite: PS00126 PS51845
  • CDD: cd00077
  • PDB: 1LXS
  • PDBsum: 1LXS
  • STRING: ENSP00000379496
• Other Databases: GeneCards:  PDE1C  Malacards:  PDE1C

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0048101	calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity	IBA	molecular function
GO:0043025	neuronal cell body	IBA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0004114	3',5'-cyclic-nucleotide phosphodiesterase activity	IEA	molecular function
GO:0008081	phosphoric diester hydrolase activity	IEA	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0004117	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity	TAS	molecular function
GO:0047555	3',5'-cyclic-GMP phosphodiesterase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04020	Calcium signaling pathway
hsa00230	Purine metabolism
hsa04740	Olfactory transduction
hsa05032	Morphine addiction
hsa04742	Taste transduction
hsa04924	Renin secretion

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R