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PDE3A phosphodiesterase 3A [ Homo sapiens (human) ]

Gene ID: 5139, updated on 22-Aug-2020

Summary

Official Symbol
PDE3Aprovided by HGNC
Official Full Name
phosphodiesterase 3Aprovided by HGNC
Primary source
HGNC:HGNC:8778
See related
Ensembl:ENSG00000172572 MIM:123805
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HTNB; CGI-PDE; CGI-PDE A; CGI-PDE-A
Summary
This gene encodes a member of the cGMP-inhibited cyclic nucleotide phosphodiesterase (cGI-PDE) family. cGI-PDE enzymes hydrolyze both cAMP and cGMP, and play critical roles in many cellular processes by regulating the amplitude and duration of intracellular cyclic nucleotide signals. The encoded protein mediates platelet aggregation and also plays important roles in cardiovascular function by regulating vascular smooth muscle contraction and relaxation. Inhibitors of the encoded protein may be effective in treating congestive heart failure. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
Expression
Broad expression in heart (RPKM 15.7), placenta (RPKM 7.2) and 17 other tissues See more
Orthologs

Genomic context

See PDE3A in Genome Data Viewer
Location:
12p12.2
Exon count:
20
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (20368537..20688583)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (20522179..20840575)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369687 Neighboring gene uncharacterized LOC105369688 Neighboring gene ubiquitin conjugating enzyme E2 L2 (pseudogene) Neighboring gene ubiquitin like with PHD and ring finger domains 1 pseudogene Neighboring gene solute carrier organic anion transporter family member 1C1 Neighboring gene SLCO1B3-SLCO1B7 readthrough Neighboring gene solute carrier organic anion transporter family member 1B3 Neighboring gene solute carrier organic anion transporter family member 1B7 (putative)

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.
GeneReviews: Not available
Biological, clinical and population relevance of 95 loci for blood lipids.
GeneReviews: Not available
Brachydactyly-arterial hypertension syndrome
MedGen: C1862170 OMIM: 112410 GeneReviews: Not available
Compare labs
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.
GeneReviews: Not available
Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.
GeneReviews: Not available
Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations
GeneReviews: Not available
Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia.
GeneReviews: Not available
Investigation of single nucleotide polymorphisms and biological pathways associated with response to TNFα inhibitors in patients with rheumatoid arthritis.
GeneReviews: Not available
Many sequence variants affecting diversity of adult human height.
GeneReviews: Not available
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat decreases the intracellular levels of cAMP and CREB ser-133 phosphorylation through a signal transduction pathway involving sequential activation of phosphatidylinositol 3-kinase, AKT, and cyclic nucleoside phosphodiesterases PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ37884

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3',5'-cyclic-AMP phosphodiesterase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
3',5'-cyclic-nucleotide phosphodiesterase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cGMP-inhibited cyclic-nucleotide phosphodiesterase activity TAS
Traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
cAMP-mediated signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cAMP-mediated signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
cGMP-mediated signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cGMP-mediated signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to cGMP IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to transforming growth factor beta stimulus IEP
Inferred from Expression Pattern
more info
PubMed 
lipid metabolic process TAS
Traceable Author Statement
more info
PubMed 
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cAMP-mediated signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of cAMP-mediated signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of vascular permeability IMP
Inferred from Mutant Phenotype
more info
PubMed 
oocyte maturation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of oocyte development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of vascular permeability IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of meiotic nuclear division IEA
Inferred from Electronic Annotation
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
cGMP-inhibited 3',5'-cyclic phosphodiesterase A
Names
cAMP phosphodiesterase, myocardial cGMP-inhibited
cyclic GMP-inhibited phosphodiesterase A
phosphodiesterase 3A, cGMP-inhibited
NP_000912.3
NP_001231612.1
NP_001365336.1
NP_001365337.1
NP_001365338.1
XP_016874909.1
XP_016874910.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_030033.1 RefSeqGene

    Range
    5001..319863
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000921.5NP_000912.3  cGMP-inhibited 3',5'-cyclic phosphodiesterase A isoform 1

    See identical proteins and their annotated locations for NP_000912.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC112777, AC129102
    Consensus CDS
    CCDS31754.1
    UniProtKB/Swiss-Prot
    Q14432
    Related
    ENSP00000351957.3, ENST00000359062.3
    Conserved Domains (1) summary
    pfam00233
    Location:7511012
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  2. NM_001244683.2NP_001231612.1  cGMP-inhibited 3',5'-cyclic phosphodiesterase A isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC112777
    Conserved Domains (1) summary
    pfam00233
    Location:429690
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  3. NM_001378407.1NP_001365336.1  cGMP-inhibited 3',5'-cyclic phosphodiesterase A isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC112777, AC129102
  4. NM_001378408.1NP_001365337.1  cGMP-inhibited 3',5'-cyclic phosphodiesterase A isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC112777, AC129029, AC129102
  5. NM_001378409.1NP_001365338.1  cGMP-inhibited 3',5'-cyclic phosphodiesterase A isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC112777

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    20368537..20688583
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019420.1XP_016874909.1  cGMP-inhibited 3',5'-cyclic phosphodiesterase A isoform X1

  2. XM_017019421.2XP_016874910.1  cGMP-inhibited 3',5'-cyclic phosphodiesterase A isoform X2

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