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    PDE7A phosphodiesterase 7A [ Homo sapiens (human) ]

    Gene ID: 5150, updated on 14-Nov-2024

    Summary

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    Official Symbol
    PDE7Aprovided by HGNC
    Official Full Name
    phosphodiesterase 7Aprovided by HGNC
    Primary source
    HGNC:HGNC:8791
    See related
    Ensembl:ENSG00000205268 MIM:171885; AllianceGenome:HGNC:8791
    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
    HCP1; PDE7
    Summary
    The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE7 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]
    Expression
    Broad expression in lymph node (RPKM 14.6), appendix (RPKM 7.7) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PDE7A in Genome Data Viewer
    Location:
    8q13.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (65714334..65842064, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (66140012..66267737, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (66626569..66754299, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1299 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:66472804-66473503 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:66528344-66529126 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:66546245-66546867 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27461 Neighboring gene armadillo repeat containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27462 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19245 Neighboring gene mitochondrial fission regulator 1 Neighboring gene MPRA-validated peak7054 silencer Neighboring gene uncharacterized LOC107986949 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27463 Neighboring gene MPRA-validated peak7055 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27464 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:66752860-66753429 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:66753430-66753998 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:66753999-66754568 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:66754569-66755137 Neighboring gene MPRA-validated peak7056 silencer Neighboring gene PDE7A divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27465 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:66842558-66843076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:66843077-66843595 Neighboring gene uncharacterized LOC107986950 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27467 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27468 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27469 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:66862529-66863728

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The habenular volume and PDE7A allelic polymorphism in major depressive disorder: preliminary findings.
      Title: The habenular volume and PDE7A allelic polymorphism in major depressive disorder: preliminary findings.
    2. Circ_0091702 relieves lipopolysaccharide (LPS)-induced cell injury by regulating the miR-182/PDE7A axis in sepsis.
      Title: Circ_0091702 relieves lipopolysaccharide (LPS)-induced cell injury by regulating the miR-182/PDE7A axis in sepsis.
    3. Long non-coding RNA TUSC7 suppressed colorectal cancer progression via regulation of miR-23b/PDE7A Axis.
      Title: Long non-coding RNA TUSC7 suppressed colorectal cancer progression via regulation of miR-23b/PDE7A Axis.
    4. Phosphodiesterase 7 Regulation in Cellular and Rodent Models of Parkinson's Disease.
      Title: Phosphodiesterase 7 Regulation in Cellular and Rodent Models of Parkinson's Disease.
    5. Here we describe a compound, BC54, that is a selective inhibitor of enzymes from the cAMP-specific PDE4 and PDE7 families. Consistent with the biological effect of other PDE4 and PDE7 inhibitors, BC54 displays potent anti-inflammatory properties and is superior to a combination of rolipram (a PDE4 inhibitor) and BRL50481 (a PDE7A inhibitor) for inducing apoptosis in chronic lymphocytic leukemia (CLL) cells
      Title: Identification and characterization of a potent and biologically-active PDE4/7 inhibitor via fission yeast-based assays.
    6. Low PDE7A expression is associated with sepsis.
      Title: Leukocyte phosphodiesterase expression after lipopolysaccharide and during sepsis and its relationship with HLA-DR expression.
    7. PDE7A is a high-speed and low-affinity phosphodiesterase for cCMP.
      Title: PDE7A1 hydrolyzes cCMP.
    8. PDE7 has roles in regulating oligodendrocyte precursor survival and differentiation during brain development and in adulthood
      Title: Inhibition of endogenous phosphodiesterase 7 promotes oligodendrocyte precursor differentiation and survival.
    9. 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.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    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 Variation Viewer (GRCh37.p13)

    HIV-1 interactions

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    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 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-AMP phosphodiesterase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables 3',5'-cyclic-GMP phosphodiesterase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cAMP catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cAMP-mediated signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    high affinity 3',5'-cyclic-AMP phosphodiesterase 7A
    Names
    TM22
    cAMP-specific phosphodiesterase 7A
    high affinity cAMP-specific 3',5'-cyclic phosphodiesterase 7A
    high affinity cAMP-specific PDE 1
    phosphodiesterase isozyme 7
    NP_001229247.1
    NP_002594.1
    XP_011515842.1
    XP_016869027.1
    XP_054216608.1
    XP_054216609.1

    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.

    Genomic

    1. NG_029614.1 RefSeqGene

      Range
      4671..132401
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001242318.3 → NP_001229247.1  high affinity 3',5'-cyclic-AMP phosphodiesterase 7A isoform c

      See identical proteins and their annotated locations for NP_001229247.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3, also called PDE7A1) represents the longer transcript, and encodes the longer isoform (c).
      Source sequence(s)
      AC055822, AC100812, AK057586, AK292680, AW387924, BM818331, CN414361, DB460103, DR000686, N49050
      Consensus CDS
      CCDS56538.1
      UniProtKB/Swiss-Prot
      A0AVH6, A8K436, A8K9G5, O15380, Q13946, Q96T72
      Related
      ENSP00000385632.4, ENST00000401827.8
      Conserved Domains (1) summary
      pfam00233
      Location:211 → 444
      PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase

    2. NM_002603.4 → NP_002594.1  high affinity 3',5'-cyclic-AMP phosphodiesterase 7A isoform a

      See identical proteins and their annotated locations for NP_002594.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also called PDE7A2) differs in the 5' UTR and coding sequence compared to variant 3. The resulting isoform (a) has a distinct N-terminus compared to isoform c.
      Source sequence(s)
      AC055822, AK057586, AW387924, BM818331, CN414361, N49050, U67932
      Consensus CDS
      CCDS34901.1
      Related
      ENSP00000368730.4, ENST00000379419.8
      Conserved Domains (2) summary
      pfam00233
      Location:185 → 405
      PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
      pfam09195
      Location:16 → 101
      Endonuc-BglII; Restriction endonuclease BglII

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      65714334..65842064 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011517540.4 → XP_011515842.1  high affinity 3',5'-cyclic-AMP phosphodiesterase 7A isoform X1

      See identical proteins and their annotated locations for XP_011515842.1

      Conserved Domains (2) summary
      pfam00233
      Location:185 → 405
      PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
      pfam09195
      Location:16 → 101
      Endonuc-BglII; Restriction endonuclease BglII

    2. XM_017013538.3 → XP_016869027.1  high affinity 3',5'-cyclic-AMP phosphodiesterase 7A isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      66140012..66267737 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360633.1 → XP_054216608.1  high affinity 3',5'-cyclic-AMP phosphodiesterase 7A isoform X1

    2. XM_054360634.1 → XP_054216609.1  high affinity 3',5'-cyclic-AMP phosphodiesterase 7A isoform X2

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_002604.2: Suppressed sequence

      Description
      NM_002604.2: This RefSeq was permanently suppressed because its 3' end is primarily intronic sequence.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13946.2 GenPept UniProtKB/Swiss-Prot:Q13946

    Gene LinkOut

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

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