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PDE11A phosphodiesterase 11A [ Homo sapiens (human) ]

Gene ID: 50940, updated on 17-Jun-2019

Summary

Official Symbol
PDE11Aprovided by HGNC
Official Full Name
phosphodiesterase 11Aprovided by HGNC
Primary source
HGNC:HGNC:8773
See related
Ensembl:ENSG00000128655 Ensembl:ENSG00000284741 MIM:604961
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
PPNAD2
Summary
The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a member of the PDE protein superfamily. Mutations in this gene are a cause of Cushing disease and adrenocortical hyperplasia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Biased expression in prostate (RPKM 3.1), fat (RPKM 1.5) and 11 other tissues See more
Orthologs

Genomic context

See PDE11A in Genome Data Viewer
Location:
2q31.2
Exon count:
24
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (177623244..178108339, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (178487977..178973066, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene tetratricopeptide repeat domain 30B Neighboring gene tetratricopeptide repeat domain 30A Neighboring gene uncharacterized LOC105373764 Neighboring gene Sharpr-MPRA regulatory region 7527 Neighboring gene apoptosis inhibitor 5 pseudogene 2 Neighboring gene RNA, U6 small nuclear 629, pseudogene Neighboring gene succinate dehydrogenase complex subunit D pseudogene 5 Neighboring gene cytochrome c, testis, pseudogene Neighboring gene RNA, U5E small nuclear 9, pseudogene Neighboring gene RNA binding motif protein 45

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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Pigmented nodular adrenocortical disease, primary, 2
MedGen: C1864851 OMIM: 610475 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
NHGRI GWA Catalog

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 BioSystems

  • G alpha (s) signalling events, organism-specific biosystem (from REACTOME)
    G alpha (s) signalling events, organism-specific biosystemThe general function of the G alpha (s) subunit (Gs) is to activate adenylate cyclase, which in turn produces cAMP, leading to the activation of cAMP-dependent protein kinases (often referred to col...
  • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
    GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
  • 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...
  • Morphine addiction, organism-specific biosystem (from KEGG)
    Morphine addiction, organism-specific biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
  • Morphine addiction, conserved biosystem (from KEGG)
    Morphine addiction, conserved biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
  • 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
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
  • 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...

General gene information

Markers

Homology

Clone Names

  • FLJ23693, MGC133355, MGC133356

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3',5'-cyclic-GMP phosphodiesterase activity IEA
Inferred from Electronic Annotation
more info
 
3',5'-cyclic-nucleotide phosphodiesterase activity TAS
Traceable Author Statement
more info
PubMed 
cGMP binding IDA
Inferred from Direct Assay
more info
PubMed 
cGMP-stimulated cyclic-nucleotide phosphodiesterase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cGMP-stimulated cyclic-nucleotide phosphodiesterase activity IDA
Inferred from Direct Assay
more info
PubMed 
cyclic-nucleotide phosphodiesterase activity NAS
Non-traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
metabolic 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 cGMP-mediated signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A
Names
cAMP and cGMP cyclic nucleotide phosphodiesterase 11A
NP_001070664.1
NP_001070665.1
NP_001070826.1
NP_058649.3

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_012168.2 RefSeqGene

    Range
    5001..490091
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001077196.2NP_001070664.1  dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A isoform 1

    See identical proteins and their annotated locations for NP_001070664.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 4. The resulting isoform (1) has a shorter N-terminus, compared to isoform 4.
    Source sequence(s)
    AC073834, AC073892, AI919276, AJ251509
    Consensus CDS
    CCDS42786.1
    UniProtKB/Swiss-Prot
    Q9HCR9
    Related
    ENSP00000374333.3, ENST00000389683.7
    Conserved Domains (2) summary
    smart00065
    Location:27124
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:219454
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  2. NM_001077197.1NP_001070665.1  dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains a distinct 5' UTR and 5' coding region, compared to variant 4. The resulting isoform (3) contains a shorter and distinct N-terminus, compared to isoform 4.
    Source sequence(s)
    AB038041, AC073834, AC073892, AI919276
    Consensus CDS
    CCDS42785.1
    UniProtKB/Swiss-Prot
    Q9HCR9
    Related
    ENSP00000351232.4, ENST00000358450.8
    Conserved Domains (2) summary
    smart00065
    Location:152318
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:413648
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  3. NM_001077358.1NP_001070826.1  dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A isoform 2

    See identical proteins and their annotated locations for NP_001070826.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 4. The resulting isoform (2) has a shorter N-terminus, compared to isoform 4.
    Source sequence(s)
    AC073834, AF281865, BX105579
    Consensus CDS
    CCDS46459.1
    UniProtKB/Swiss-Prot
    Q9HCR9
    Related
    ENSP00000386539.1, ENST00000409504.5
    Conserved Domains (2) summary
    smart00065
    Location:44210
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:305540
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  4. NM_016953.4NP_058649.3  dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A isoform 4

    See identical proteins and their annotated locations for NP_058649.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (4).
    Source sequence(s)
    AB036704, AC011998, AC073834, AI919276, BC112393
    Consensus CDS
    CCDS33334.1
    UniProtKB/Swiss-Prot
    Q9HCR9
    Related
    ENSP00000286063.5, ENST00000286063.11
    Conserved Domains (2) summary
    smart00065
    Location:217380
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:663898
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    177623244..178108339 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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