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    PDE11A phosphodiesterase 11A [ Homo sapiens (human) ]

    Gene ID: 50940, updated on 19-Jul-2016
    Official Symbol
    PDE11Aprovided by HGNC
    Official Full Name
    phosphodiesterase 11Aprovided by HGNC
    Primary source
    HGNC:HGNC:8773
    See related
    Ensembl:ENSG00000128655 HPRD:05391; MIM:604961; Vega:OTTHUMG00000154188
    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]
    Orthologs
    Location:
    2q31.2
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (177623249..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 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

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

    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

    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

    • 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...

    Markers

    Homology

    Clone Names

    • FLJ23693, MGC133355, MGC133356

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    3',5'-cyclic-AMP phosphodiesterase activity TAS
    Traceable Author Statement
    more info
     
    3',5'-cyclic-GMP phosphodiesterase activity TAS
    Traceable Author Statement
    more info
     
    3',5'-cyclic-nucleotide phosphodiesterase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    cAMP binding IEA
    Inferred from Electronic Annotation
    more info
     
    cGMP binding IDA
    Inferred from Direct Assay
    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
    cAMP catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    cGMP catabolic process 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
     
    perikaryon IEA
    Inferred from Electronic Annotation
    more info
     
    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

    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_012168.1 RefSeqGene

      Range
      5001..490090
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001077196.1NP_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, OTTHUMP00000205271, ENST00000389683, OTTHUMT00000334315
      Conserved Domains (2) summary
      smart00065
      Location:27124
      GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
      cd00077
      Location:219395
      HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
    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, OTTHUMP00000205270, ENST00000358450, OTTHUMT00000334314
      Conserved Domains (2) summary
      smart00065
      Location:152318
      GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
      cd00077
      Location:413589
      HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
    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, OTTHUMP00000205272, ENST00000409504, OTTHUMT00000334316
      Conserved Domains (2) summary
      smart00065
      Location:44210
      GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
      cd00077
      Location:305481
      HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
    4. NM_016953.3NP_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, OTTHUMP00000205269, ENST00000286063, OTTHUMT00000334313
      Conserved Domains (2) summary
      smart00065
      Location:217380
      GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
      cd00077
      Location:663839
      HDc; Metal dependent phosphohydrolases with conserved 'HD' motif

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      177623249..178108339 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      178493788..178979175 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)