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PDE5A phosphodiesterase 5A [ Homo sapiens (human) ]

Gene ID: 8654, updated on 8-Jul-2018
Official Symbol
PDE5Aprovided by HGNC
Official Full Name
phosphodiesterase 5Aprovided by HGNC
Primary source
HGNC:HGNC:8784
See related
Ensembl:ENSG00000138735 MIM:603310; Vega:OTTHUMG00000132971
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
See PDE5A in Genome Data Viewer
Location:
4q26
Exon count:
24
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (119494395..119628826, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (120415550..120549981, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107983979 Neighboring gene RNA, U6 small nuclear 1217, pseudogene Neighboring gene general transcription factor IIi pseudogene 12 Neighboring gene septin 7 pseudogene Neighboring gene translation initiation factor IF-2 Neighboring gene uncharacterized LOC105377396 Neighboring gene uncharacterized LOC105377397

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Nitric oxide stimulates guanylate cyclase, organism-specific biosystem (from REACTOME)
    Nitric oxide stimulates guanylate cyclase, organism-specific biosystemNitric Oxide (NO) inhibits smooth muscle cell proliferation and migration, oxidation of low-density lipoproteins, and platelet aggregation and adhesion. It can stimulate vasodilatation of the endothe...
  • Platelet homeostasis, organism-specific biosystem (from REACTOME)
    Platelet homeostasis, organism-specific biosystemUnder normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhesion and activation, suppresses coagulation, enhances fibrin cleavage and is anti-inflammatory in charact...
  • Purine metabolism, organism-specific biosystem (from KEGG)
    Purine metabolism, organism-specific biosystem
    Purine metabolism
  • Purine metabolism, conserved biosystem (from KEGG)
    Purine metabolism, conserved biosystem
    Purine metabolism
  • cGMP effects, organism-specific biosystem (from REACTOME)
    cGMP effects, organism-specific biosystemCyclic guanosine monophosphate (cGMP) is an important secondary messenger synthesized by guanylate cyclases. cGMP has effects on phosphodiesterases (PDE), ion-gated channels, and the cGMP-dependent p...
  • cGMP-PKG signaling pathway, organism-specific biosystem (from KEGG)
    cGMP-PKG signaling pathway, organism-specific biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...
  • cGMP-PKG signaling pathway, conserved biosystem (from KEGG)
    cGMP-PKG signaling pathway, conserved biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3',5'-cyclic-GMP phosphodiesterase activity TAS
Traceable Author Statement
more info
 
3',5'-cyclic-nucleotide phosphodiesterase activity NAS
Non-traceable Author Statement
more info
PubMed 
cGMP binding 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
cGMP catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
cGMP catabolic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of T cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cardiac muscle contraction IEA
Inferred from Electronic Annotation
more info
 
positive regulation of MAP kinase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cardiac muscle hypertrophy IEA
Inferred from Electronic Annotation
more info
 
positive regulation of oocyte development IEA
Inferred from Electronic Annotation
more info
 
relaxation of cardiac muscle IEA
Inferred from Electronic Annotation
more info
 
signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
cytosol TAS
Traceable Author Statement
more info
 
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

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_001083.3NP_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, BM920622, BM978332
    Consensus CDS
    CCDS3713.1
    UniProtKB/Swiss-Prot
    O76074
    Related
    ENSP00000347046.3, OTTHUMP00000163923, ENST00000354960.7, OTTHUMT00000256529
    Conserved Domains (2) summary
    smart00065
    Location:164321
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:612847
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  2. NM_033430.2NP_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)
    AC093752, AF043732, AY264918, BM978332
    Consensus CDS
    CCDS34055.1
    UniProtKB/Swiss-Prot
    O76074
    Related
    ENSP00000264805.5, OTTHUMP00000163924, ENST00000264805.9, OTTHUMT00000256530
    Conserved Domains (2) summary
    smart00065
    Location:122279
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:570805
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  3. NM_033437.3NP_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/Swiss-Prot
    O76074
    UniProtKB/TrEMBL
    G5E9C5
    Related
    ENSP00000377957.1, ENST00000394439.5
    Conserved Domains (2) summary
    smart00065
    Location:112269
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:560795
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    119494395..119628826 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017008791.2XP_016864280.1  cGMP-specific 3',5'-cyclic phosphodiesterase isoform X1

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