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PDE5A phosphodiesterase 5A [ Homo sapiens (human) ]

Gene ID: 8654, updated on 2-Nov-2024

Summary

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Official Symbol
PDE5Aprovided by HGNC
Official Full Name
phosphodiesterase 5Aprovided by HGNC
Primary source
HGNC:HGNC:8784
See related
Ensembl:ENSG00000138735 MIM:603310; AllianceGenome:HGNC:8784
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
CN5A; PDE5; CGB-PDE
Summary
This gene encodes a cGMP-binding, cGMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family. This phosphodiesterase specifically hydrolyzes cGMP to 5'-GMP. It is involved in the regulation of intracellular concentrations of cyclic nucleotides and is important for smooth muscle relaxation in the cardiovascular system. Alternative splicing of this gene results in three transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
Expression
Broad expression in prostate (RPKM 31.5), esophagus (RPKM 20.9) and 20 other tissues See more
Orthologs
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Genomic context

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See PDE5A in Genome Data Viewer
Location:
4q26
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (119494403..119628804, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (122799522..122933950, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (120415558..120549959, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1217, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21856 Neighboring gene septin 7 pseudogene 14 Neighboring gene general transcription factor IIi pseudogene 12 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15655 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:120453269-120453878 Neighboring gene MPRA-validated peak5097 silencer Neighboring gene small nucleolar RNA SNORA11 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15656 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21857 Neighboring gene uncharacterized LOC107986192 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15657 Neighboring gene uncharacterized LOC105377397 Neighboring gene uncharacterized LOC124900920

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Identification and regulation of human PDE5A gene promoter. Lin CS, et al. Biochem Biophys Res Commun, 2001 Jan 26. PMID 11162575
  2. Identification of cytosolic phosphodiesterases in the erythrocyte: a possible role for PDE5. Adderley SP, et al. Med Sci Monit, 2011 May. PMID 21525805, Free PMC Article
  3. Crystal structure of the GAF-B domain from human phosphodiesterase 5. Russwurm M, et al. Proteins, 2011 May. PMID 21425347
  4. Distinct allostery induced in the cyclic GMP-binding, cyclic GMP-specific phosphodiesterase (PDE5) by cyclic GMP, sildenafil, and metal ions. Biswas KH, et al. J Biol Chem, 2011 Mar 11. PMID 21193396, Free PMC Article
  5. Retraction: Expression of phosphodiesterase type 5A in human spermatozoa and influence of its inhibition on motility and functional sperm parameters. Foresta C, et al. J Endocrinol Invest, 2010 Jul 1. PMID 20595799

See all (108) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CircPDE5A-encoded novel regulator of the PI3K/AKT pathway inhibits esophageal squamous cell carcinoma progression by promoting USP14-mediated de-ubiquitination of PIK3IP1.
    Title: CircPDE5A-encoded novel regulator of the PI3K/AKT pathway inhibits esophageal squamous cell carcinoma progression by promoting USP14-mediated de-ubiquitination of PIK3IP1.
  2. LncRNA ARAP1-AS1 targets miR-516b-5p/PDE5A axis to facilitate the progression of thyroid cancer.
    Title: LncRNA ARAP1-AS1 targets miR-516b-5p/PDE5A axis to facilitate the progression of thyroid cancer.
  3. Cellular Redox Metabolism Is Modulated by the Distinct Localization of Cyclic Nucleotide Phosphodiesterase 5A Isoforms.
    Title: Cellular Redox Metabolism Is Modulated by the Distinct Localization of Cyclic Nucleotide Phosphodiesterase 5A Isoforms.
  4. Identification of a Functional PDE5A Variant at the Chromosome 4q27 Coronary Artery Disease Locus in an Extended Myocardial Infarction Family.
    Title: Identification of a Functional PDE5A Variant at the Chromosome 4q27 Coronary Artery Disease Locus in an Extended Myocardial Infarction Family.
  5. Influencing Factors for Erectile Dysfunction of Young Adults with No Response to PDE5i.
    Title: Influencing Factors for Erectile Dysfunction of Young Adults with No Response to PDE5i.
  6. Changes in the expression and function of the PDE5 pathway in the obstructed urinary bladder.
    Title: Changes in the expression and function of the PDE5 pathway in the obstructed urinary bladder.
  7. Over-expression of PDE5 in Oral Squamous Cell Carcinoma - Effect of Sildenafil Citrate.
    Title: Over-expression of PDE5 in Oral Squamous Cell Carcinoma - Effect of Sildenafil Citrate.
  8. Muscle Damage in Systemic Sclerosis and CXCL10: The Potential Therapeutic Role of PDE5 Inhibition.
    Title: Muscle Damage in Systemic Sclerosis and CXCL10: The Potential Therapeutic Role of PDE5 Inhibition.
  9. Discovery of Novel Agents on Spindle Assembly Checkpoint to Sensitize Vinorelbine-Induced Mitotic Cell Death Against Human Non-Small Cell Lung Cancers.
    Title: Discovery of Novel Agents on Spindle Assembly Checkpoint to Sensitize Vinorelbine-Induced Mitotic Cell Death Against Human Non-Small Cell Lung Cancers.
  10. Regulation of PDE5 expression in normal prostate, benign prostatic hyperplasia, and adenocarcinoma.
    Title: Regulation of PDE5 expression in normal prostate, benign prostatic hyperplasia, and adenocarcinoma.
Submit: New GeneRIF Correction See all GeneRIFs (69)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 3',5'-cyclic-AMP phosphodiesterase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables 3',5'-cyclic-GMP phosphodiesterase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables 3',5'-cyclic-GMP phosphodiesterase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables 3',5'-cyclic-nucleotide phosphodiesterase activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables cGMP binding TAS
Traceable Author Statement
more info
 PubMed 
enables calmodulin-activated 3',5'-cyclic-GMP phosphodiesterase activity IEA
Inferred from Electronic Annotation
more info
  
enables calmodulin-activated dual specificity 3',5'-cyclic-GMP, 3',5'-cyclic-AMP phosphodiesterase activity IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in T cell proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in cAMP-mediated signaling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cGMP catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of T cell proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of cardiac muscle contraction IEA
Inferred from Electronic Annotation
more info
  
involved_in oocyte development IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of MAP kinase activity IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of cardiac muscle hypertrophy IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of oocyte development IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of nitric oxide mediated signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in relaxation of cardiac muscle IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
cGMP-specific 3',5'-cyclic phosphodiesterase
Names
cGMP-binding cGMP-specific 3',5'-cyclic nucleotide phosphodiesterase
cGMP-specific phosphodiesterase PDE5A2
cGMP-specific phosphodiesterase type 5A
phosphodiesterase 5A, cGMP-specific
phosphodiesterase isozyme 5
NP_001074.2
NP_236914.2
NP_246273.2
XP_016864280.1
XP_054207125.1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001083.4 → NP_001074.2  cGMP-specific 3',5'-cyclic phosphodiesterase isoform 1

    See identical proteins and their annotated locations for NP_001074.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1, also known as PDE5A1).
    Source sequence(s)
    AC093752, AF043731, AY264918, BM978332
    Consensus CDS
    CCDS3713.1
    UniProtKB/Swiss-Prot
    A0AV69, A8K2C4, O75026, O75887, O76074, Q86UI0, Q86V66, Q9Y6Z6
    UniProtKB/TrEMBL
    I6NLS4
    Related
    ENSP00000347046.3, ENST00000354960.8
    Conserved Domains (2) summary
    smart00065
    Location:164 → 321
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:612 → 847
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase

  2. NM_033430.3 → NP_236914.2  cGMP-specific 3',5'-cyclic phosphodiesterase isoform 2

    See identical proteins and their annotated locations for NP_236914.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, and uses an alternate start codon, compared to variant 1. The encoded isoform (2, also known as PDE5A2) has a distinct and shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC080089, AC093752, AF043732, AY264918, BM978332
    Consensus CDS
    CCDS34055.1
    UniProtKB/TrEMBL
    I6NLS4
    Related
    ENSP00000264805.5, ENST00000264805.9
    Conserved Domains (2) summary
    smart00065
    Location:122 → 279
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:570 → 805
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase

  3. NM_033437.4 → NP_246273.2  cGMP-specific 3',5'-cyclic phosphodiesterase isoform 3

    See identical proteins and their annotated locations for NP_246273.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon, compared to variant 1. The encoded isoform (3, also known as PDE5A3) is shorter at the N-terminus, compared to isoform 1. There are no publicly available full-length transcripts supporting this variant; it is represented based on full-length cloning by RT-PCR in PMID:10679255.
    Source sequence(s)
    AC093752, AF155194, BC126233, BM978332, CD511199
    UniProtKB/TrEMBL
    G5E9C5, I6NLS4
    Related
    ENSP00000377957.1, ENST00000394439.5
    Conserved Domains (2) summary
    smart00065
    Location:112 → 269
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:560 → 795
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    119494403..119628804 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017008791.3 → XP_016864280.1  cGMP-specific 3',5'-cyclic phosphodiesterase isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    122799522..122933950 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054351150.1 → XP_054207125.1  cGMP-specific 3',5'-cyclic phosphodiesterase isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O76074.2 GenPept UniProtKB/Swiss-Prot:O76074

Gene LinkOut

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