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PDE1A (phosphodiesterase 1A)

Identity

Alias_namesphosphodiesterase 1A
Other aliasCAM-PDE-1A
HCAM-1
HCAM1
HSPDE1A
HGNC (Hugo) PDE1A
LocusID (NCBI) 5136
Atlas_Id 56212
Location 2q32.1  [Link to chromosome band 2q32]
Location_base_pair Starts at 182167887 and ends at 182522845 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
GREB1 (2p25.1) / PDE1A (2q32.1)PDE1A (2q32.1) / PPP1R1C (2q31.3)PKP4 (2q24.1) / PDE1A (2q32.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PDE1A   8774
Cards
Entrez_Gene (NCBI)PDE1A  5136  phosphodiesterase 1A
AliasesCAM-PDE-1A; HCAM-1; HCAM1; HSPDE1A
GeneCards (Weizmann)PDE1A
Ensembl hg19 (Hinxton)ENSG00000115252 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000115252 [Gene_View]  chr2:182167887-182522845 [Contig_View]  PDE1A [Vega]
ICGC DataPortalENSG00000115252
TCGA cBioPortalPDE1A
AceView (NCBI)PDE1A
Genatlas (Paris)PDE1A
WikiGenes5136
SOURCE (Princeton)PDE1A
Genetics Home Reference (NIH)PDE1A
Genomic and cartography
GoldenPath hg38 (UCSC)PDE1A  -     chr2:182167887-182522845 -  2q32.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PDE1A  -     2q32.1   [Description]    (hg19-Feb_2009)
EnsemblPDE1A - 2q32.1 [CytoView hg19]  PDE1A - 2q32.1 [CytoView hg38]
Mapping of homologs : NCBIPDE1A [Mapview hg19]  PDE1A [Mapview hg38]
OMIM171890   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_001003683 NM_001258312 NM_001258313 NM_001258314 NM_005019
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PDE1A
Cluster EST : UnigeneHs.742174 [ NCBI ]
CGAP (NCI)Hs.742174
Alternative Splicing GalleryENSG00000115252
Gene ExpressionPDE1A [ NCBI-GEO ]   PDE1A [ EBI - ARRAY_EXPRESS ]   PDE1A [ SEEK ]   PDE1A [ MEM ]
Gene Expression Viewer (FireBrowse)PDE1A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5136
GTEX Portal (Tissue expression)PDE1A
Protein : pattern, domain, 3D structure
UniProt/SwissProtP54750   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP54750  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP54750
Splice isoforms : SwissVarP54750
Catalytic activity : Enzyme3.1.4.17 [ Enzyme-Expasy ]   3.1.4.173.1.4.17 [ IntEnz-EBI ]   3.1.4.17 [ BRENDA ]   3.1.4.17 [ KEGG ]   
PhosPhoSitePlusP54750
Domaine pattern : Prosite (Expaxy)PDEASE_I (PS00126)   
Domains : Interpro (EBI)HD/PDEase_dom    PDEase    PDEase_catalytic_dom    PDEase_CS    PDEase_N   
Domain families : Pfam (Sanger)PDEase_I (PF00233)    PDEase_I_N (PF08499)   
Domain families : Pfam (NCBI)pfam00233    pfam08499   
Domain families : Smart (EMBL)HDc (SM00471)  
Conserved Domain (NCBI)PDE1A
DMDM Disease mutations5136
Blocks (Seattle)PDE1A
PDB (SRS)1LXQ   
PDB (PDBSum)1LXQ   
PDB (IMB)1LXQ   
PDB (RSDB)1LXQ   
Structural Biology KnowledgeBase1LXQ   
SCOP (Structural Classification of Proteins)1LXQ   
CATH (Classification of proteins structures)1LXQ   
SuperfamilyP54750
Human Protein AtlasENSG00000115252
Peptide AtlasP54750
HPRD01387
IPIIPI00008282   IPI00335536   IPI00395021   IPI00221140   IPI00399272   IPI00377231   IPI00171816   IPI00395024   IPI00221139   
Protein Interaction databases
DIP (DOE-UCLA)P54750
IntAct (EBI)P54750
FunCoupENSG00000115252
BioGRIDPDE1A
STRING (EMBL)PDE1A
ZODIACPDE1A
Ontologies - Pathways
QuickGOP54750
Ontology : AmiGO3',5'-cyclic-AMP phosphodiesterase activity  calmodulin-dependent cyclic-nucleotide phosphodiesterase activity  calmodulin binding  nucleus  cytosol  cAMP catabolic process  signal transduction  cGMP binding  regulation of smooth muscle cell apoptotic process  neuronal cell body  cGMP catabolic process  metal ion binding  3',5'-cyclic-GMP phosphodiesterase activity  calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity  regulation of smooth muscle cell proliferation  
Ontology : EGO-EBI3',5'-cyclic-AMP phosphodiesterase activity  calmodulin-dependent cyclic-nucleotide phosphodiesterase activity  calmodulin binding  nucleus  cytosol  cAMP catabolic process  signal transduction  cGMP binding  regulation of smooth muscle cell apoptotic process  neuronal cell body  cGMP catabolic process  metal ion binding  3',5'-cyclic-GMP phosphodiesterase activity  calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity  regulation of smooth muscle cell proliferation  
Pathways : KEGGPurine metabolism    Calcium signaling pathway    Taste transduction    Morphine addiction   
NDEx NetworkPDE1A
Atlas of Cancer Signalling NetworkPDE1A
Wikipedia pathwaysPDE1A
Orthology - Evolution
OrthoDB5136
GeneTree (enSembl)ENSG00000115252
Phylogenetic Trees/Animal Genes : TreeFamPDE1A
HOVERGENP54750
HOGENOMP54750
Homologs : HomoloGenePDE1A
Homology/Alignments : Family Browser (UCSC)PDE1A
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPDE1A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PDE1A
dbVarPDE1A
ClinVarPDE1A
1000_GenomesPDE1A 
Exome Variant ServerPDE1A
ExAC (Exome Aggregation Consortium)PDE1A (select the gene name)
Genetic variants : HAPMAP5136
Genomic Variants (DGV)PDE1A [DGVbeta]
DECIPHERPDE1A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPDE1A 
Mutations
ICGC Data PortalPDE1A 
TCGA Data PortalPDE1A 
Broad Tumor PortalPDE1A
OASIS PortalPDE1A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPDE1A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPDE1A
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PDE1A
DgiDB (Drug Gene Interaction Database)PDE1A
DoCM (Curated mutations)PDE1A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PDE1A (select a term)
intoGenPDE1A
Cancer3DPDE1A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM171890   
Orphanet
MedgenPDE1A
Genetic Testing Registry PDE1A
NextProtP54750 [Medical]
TSGene5136
GENETestsPDE1A
Target ValidationPDE1A
Huge Navigator PDE1A [HugePedia]
snp3D : Map Gene to Disease5136
BioCentury BCIQPDE1A
ClinGenPDE1A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5136
Chemical/Pharm GKB GenePA33122
Clinical trialPDE1A
Miscellaneous
canSAR (ICR)PDE1A (select the gene name)
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePDE1A
EVEXPDE1A
GoPubMedPDE1A
iHOPPDE1A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:24:10 CEST 2017

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