PDE1C

Protein identityUniProt · HPA

UniProt accession

Q14123

Gene

PDE1C

Ensembl

ENSG00000154678

Chromosome

7

Canonical length

709 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Predicted intracellular proteins

Subcellular location

Mitochondria,Cytosol

Quaternary structure

Homodimer

OverviewNCBI 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 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]

Canonical amino-acid sequenceUniProt

709 residues, UniProt reviewed canonical sequence.

>Q14123|PDE1C
     1  MESPTKEIEE FESNSLKYLQ PEQIEKIWLR LRGLRKYKKT SQRLRSLVKQ LERGEASVVD
    61  LKKNLEYAAT VLESVYIDET RRLLDTEDEL SDIQSDAVPS EVRDWLASTF TRQMGMMLRR
   121  SDEKPRFKSI VHAVQAGIFV ERMYRRTSNM VGLSYPPAVI EALKDVDKWS FDVFSLNEAS
   181  GDHALKFIFY ELLTRYDLIS RFKIPISALV SFVEALEVGY SKHKNPYHNL MHAADVTQTV
   241  HYLLYKTGVA NWLTELEIFA IIFSAAIHDY EHTGTTNNFH IQTRSDPAIL YNDRSVLENH
   301  HLSAAYRLLQ DDEEMNILIN LSKDDWREFR TLVIEMVMAT DMSCHFQQIK AMKTALQQPE
   361  AIEKPKALSL MLHTADISHP AKAWDLHHRW TMSLLEEFFR QGDREAELGL PFSPLCDRKS
   421  TMVAQSQVGF IDFIVEPTFT VLTDMTEKIV SPLIDETSQT GGTGQRRSSL NSISSSDAKR
   481  SGVKTSGSEG SAPINNSVIS VDYKSFKATW TEVVHINRER WRAKVPKEEK AKKEAEEKAR
   541  LAAEEQQKEM EAKSQAEEGA SGKAEKKTSG ETKNQVNGTR ANKSDNPRGK NSKAEKSSGE
   601  QQQNGDFKDG KNKTDKKDHS NIGNDSKKTD GTKQRSHGSP APSTSSTCRL TLPVIKPPLR
   661  HFKRPAYASS SYAPSVSKKT DEHPARYKML DQRIKMKKIQ NISHNWNRK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PDE1C can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.41

Highest tissue expression

55 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PDE1C.

Disease | AllUniProt

Conditions PDE1C is implicated in, by any mechanism.

• Deafness, autosomal dominant, 74 (DFNA74) MIM:618140

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 184 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hearing loss, autosomal dominant 74
• Autosomal dominant nonsyndromic hearing loss

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.7

gnomAD pLI

0

gnomAD missense Z

1.39

DepMap mean gene effect

-0.01

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• negative regulation of cAMP/PKA signal transduction
• signal transduction

Molecular functions

• 3',5'-cyclic-AMP phosphodiesterase activity
• 3',5'-cyclic-GMP phosphodiesterase activity
• calmodulin binding
• calmodulin-activated 3',5'-cyclic-GMP phosphodiesterase activity
• calmodulin-activated dual specificity 3',5'-cyclic-GMP, 3',5'-cyclic-AMP phosphodiesterase activity
• metal ion binding

Cellular components

• cytosol
• lysosome
• neuronal cell body

Protein domainsUniProt · Pfam · InterPro

• 3'5'-cyclic nucleotide phosphodiesterase, catalytic domain
• HD/PDEase domain
• PDE1, N-terminal domain
• 3'5'-cyclic nucleotide phosphodiesterase
• 3'5'-cyclic nucleotide phosphodiesterase, conserved site
• 3'5'-cyclic nucleotide phosphodiesterase, catalytic domain superfamily
• 3'5'-cyclic nucleotide phosphodiesterase
• 3'5'-cyclic nucleotide phosphodiesterase N-terminal

KeywordsUniProt

• Acetylation
• Calmodulin-binding
• cAMP
• cGMP
• Deafness
• Hydrolase
• Lysosome
• Magnesium
• Metal-binding
• Non-syndromic deafness
• Zinc