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    PDE4C phosphodiesterase 4C, cAMP-specific [ Homo sapiens ]

    Gene ID: 5143, updated on 11-May-2012
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    Summary

    Official Symbol
    PDE4Cprovided by HGNC
    Official Full Name
    phosphodiesterase 4C, cAMP-specificprovided by HGNC
    Primary source
    HGNC:8782
    See related
    Ensembl:ENSG00000105650; HPRD:02529; MIM:600128
    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
    DPDE1; MGC126222
    Summary
    The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE4 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]
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    Genomic context

    Location :
    19p13.11
    Sequence :
    Chromosome: 19; NC_000019.9 (18318771..18359010, complement)
    See PDE4C in Epigenomics, MapViewer

    Chromosome 19 - NC_000019.9Genomic Context describing neighboring genes Neighboring gene MPV17 mitochondrial membrane protein-like 2 Neighboring gene RAB3A, member RAS oncogene family Neighboring gene uncharacterized LOC729966 Neighboring gene KIAA1683

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. Bailey SD, et al. Diabetes Care, 2010 Oct. PMID 20628086.
    2. New genetic associations detected in a host response study to hepatitis B vaccine. Davila S, et al. Genes Immun, 2010 Apr. PMID 20237496.
    3. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. Talmud PJ, et al. Am J Hum Genet, 2009 Nov. PMID 19913121.
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560.
    5. Large-scale characterization of HeLa cell nuclear phosphoproteins. Beausoleil SA, et al. Proc Natl Acad Sci U S A, 2004 Aug 17. PMID 15302935.

    See all (18) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    HIV-1 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 Protein Interaction Database

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    Interactions

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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • DARPP-32 events, organism-specific biosystem (from REACTOME)
      DARPP-32 events, organism-specific biosystemDopamine- and cAMP-regulated phosphoprotein, Mr 32 kDa (DARPP-32), was identified as a major target for dopamine and protein kinase A (PKA) in striatum. Recent advances now indicate that regulation D...
    • G Protein Signaling Pathways, organism-specific biosystem (from WikiPathways)
      G Protein Signaling Pathways, organism-specific biosystemG proteins, short for guanine nucleotide-binding proteins, are a family of proteins involved in second messenger cascades. G proteins are so called because they function as "molecular switches". They...
    • 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...
    • 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 ...
    • Opioid Signalling, organism-specific biosystem (from REACTOME)
      Opioid Signalling, organism-specific biosystemOpioids are chemical substances similar to opiates, the active substances found in opium (morphine, codeine etc.). Opioid action is mediated by the receptors for endogenous opioids; peptides such as...
    • 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...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    3',5'-cyclic-AMP phosphodiesterase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    3',5'-cyclic-nucleotide phosphodiesterase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    drug binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    phosphoric diester hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    cAMP catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    negative regulation of insulin secretion 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
    		  
    primary cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
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    General protein information

    Preferred Names
    cAMP-specific 3',5'-cyclic phosphodiesterase 4C
    Names
    cAMP-specific 3',5'-cyclic phosphodiesterase 4C
    PDE21
    phosphodiesterase E1 dunce homolog
    phosphodiesterase 4C, cAMP-specific (phosphodiesterase E1 dunce homolog, Drosophila)
    NP_000914.2
    NP_001092288.1
    NP_001092289.1
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    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_029629.1 RefSeqGene

      Range
      5001..45240
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000923.4 → NP_000914.2  cAMP-specific 3',5'-cyclic phosphodiesterase 4C isoform PDE4C1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (PDE4C1).
      Source sequence(s)
      AC068499, AI051127, BC109067, DB313915, L20968, U66346, Z46632
      Consensus CDS
      CCDS12373.1
      UniProtKB/TrEMBL
      O43849
      UniProtKB/Swiss-Prot
      Q08493
      UniProtKB/TrEMBL
      Q32MM7
      Related
      ENSP00000347689, ENST00000355502
      Conserved Domains (2) summary
      cd00077
      Location:387 – 569
      Blast Score: 131
      HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
      pfam00233
      Location:387 – 631
      Blast Score: 1024
      PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase

    2. NM_001098818.2 → NP_001092288.1  cAMP-specific 3',5'-cyclic phosphodiesterase 4C isoform PDE4C3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' terminal exon compared to variant 1. This results in a shorter isoform (PDE4C3) with a distinct N-terminus compared to isoform PDE4C1.
      Source sequence(s)
      AC005759, AC068499, AI051127, BC109067, DB313915, L20968, U88713, Z46632
      Consensus CDS
      CCDS42523.1
      UniProtKB/TrEMBL
      P78505
      UniProtKB/Swiss-Prot
      Q08493
      UniProtKB/TrEMBL
      Q32MM7
      Related
      ENSP00000262805, ENST00000262805
      Conserved Domains (2) summary
      cd00077
      Location:355 – 537
      Blast Score: 129
      HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
      pfam00233
      Location:355 – 599
      Blast Score: 1011
      PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase

    3. NM_001098819.2 → NP_001092289.1  cAMP-specific 3',5'-cyclic phosphodiesterase 4C isoform PDE4C2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon compared to variant 1. This results in translation initiation from an in-frame downstream AUG, and an isoform (PDE4C2) with a shorter N-terminus compared to isoform PDE4C1.
      Source sequence(s)
      AC068499, AI051127, BC109067, DB313915, L20968, U88712, Z46632
      Consensus CDS
      CCDS46016.1
      UniProtKB/Swiss-Prot
      Q08493
      UniProtKB/TrEMBL
      Q32MM7
      UniProtKB/TrEMBL
      Q7KYS4
      Related
      ENSP00000402091, ENST00000447275
      Conserved Domains (2) summary
      cd00077
      Location:281 – 463
      Blast Score: 127
      HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
      pfam00233
      Location:281 – 525
      Blast Score: 1007
      PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase

    RNA

    1. NR_040546.1 RNA Sequence

      Description
      Transcript Variant: This variant (4) contains an alternate 5' terminal exon, and is missing an internal exon compared to variant 1. It is represented as non-coding due to the presence of an upstream ORF (with a strong Kozak signal) that is predicted to interfere with the translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC005759, AC068499, AI051127, BC109067, DB313915, L20968, U88713, Z46632

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000019.9 Reference GRCh37.p5 Primary Assembly

      Range
      18318771..18359010, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000151.1 Alternate HuRef

      Range
      17882418..17922774, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC005759.1 AAC83047.1
      AAC83048.1
      AAC83049.1
      AAC83050.1
      AAC83051.1
    genomic AC005759.1 AAC83047.1
      AAC83048.1
      AAC83049.1
      AAC83050.1
      AAC83051.1
    genomic AC008397.7 (970..2508) None
    genomic AC068499.1 AAF67386.1
    genomic AF157816.1 AAD47053.1
      AAD47054.1
      AAD47055.1
    genomic CH471106.1 EAW84675.1
      EAW84676.1
      EAW84677.1
      EAW84678.1
      EAW84679.1
    mRNA AI051127.1 None
    mRNA AK295050.1 BAH11959.1
    mRNA AK300888.1 BAH13367.1
    mRNA AK300983.1 BAH13388.1
    mRNA AY429555.1 None
    mRNA AY429556.1 None
    mRNA AY429557.1 None
    mRNA AY429558.1 None
    mRNA BC109067.1 AAI09068.1
    mRNA BC109068.2 AAI09069.1
    mRNA DB313915.1 None
    mRNA L20968.1 AAA03591.1
    mRNA U66346.1 AAB96875.1
    mRNA U66347.1 AAB96876.1
    mRNA U66348.1 AAB96877.1
    mRNA U66349.1 AAB96878.1
    mRNA U88712.1 AAC51915.1
    mRNA U88713.1 AAC51916.1
    mRNA Z46632.1 CAA86601.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43849 GenPept UniProtKB/TrEMBL:O43849
    O43850 GenPept UniProtKB/TrEMBL:O43850
    O43851 GenPept UniProtKB/TrEMBL:O43851
    O76104 GenPept UniProtKB/TrEMBL:O76104
    O76105 GenPept UniProtKB/TrEMBL:O76105
    P78505 GenPept UniProtKB/TrEMBL:P78505
    Q08493.2 GenPept UniProtKB/Swiss-Prot:Q08493
    Q2VPB9 GenPept UniProtKB/TrEMBL:Q2VPB9
    Q32MM7 GenPept UniProtKB/TrEMBL:Q32MM7
    Q7KYS4 GenPept UniProtKB/TrEMBL:Q7KYS4
    Q7KYU8 GenPept UniProtKB/TrEMBL:Q7KYU8
    Q9P1U3 GenPept UniProtKB/TrEMBL:Q9P1U3
    Q9UPJ5 GenPept UniProtKB/TrEMBL:Q9UPJ5
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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