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PDE7A phosphodiesterase 7A [ Homo sapiens (human) ]

Gene ID: 5150, updated on 5-Mar-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
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Genomic context

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Location:
8q13.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (65714334..65842064, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (66140012..66267737, complement)
105.20220307 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
  • 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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Related articles in PubMed

  1. The habenular volume and PDE7A allelic polymorphism in major depressive disorder: preliminary findings. Aftanas LI, et al. World J Biol Psychiatry, 2023 Mar. PMID 35673941
  2. Phosphodiesterase 7 Regulation in Cellular and Rodent Models of Parkinson's Disease. Morales-Garcia JA, et al. Mol Neurobiol, 2020 Feb. PMID 31473904
  3. PDE7A1 hydrolyzes cCMP. Monzel M, et al. FEBS Lett, 2014 Sep 17. PMID 25128584
  4. Effects of phosphodiesterase 7 inhibition by RNA interference on the gene expression and differentiation of human mesenchymal stem cell-derived osteoblasts. Pekkinen M, et al. Bone, 2008 Jul. PMID 18420479
  5. Multiple elements jointly determine inhibitor selectivity of cyclic nucleotide phosphodiesterases 4 and 7. Wang H, et al. J Biol Chem, 2005 Sep 2. PMID 15994308

See all (38) citations in PubMed

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 variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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
  
involved_in cAMP-mediated signaling IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in perinuclear region of cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
high affinity 3',5'-cyclic-AMP phosphodiesterase 7A; high affinity cAMP-specific 3',5'-cyclic phosphodiesterase 7A
Names
TM22
cAMP-specific 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_2023_10

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 cAMP-specific 3',5'-cyclic 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 cAMP-specific 3',5'-cyclic 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 cAMP-specific 3',5'-cyclic phosphodiesterase 7A isoform X1

  2. XM_054360634.1 → XP_054216609.1  high affinity cAMP-specific 3',5'-cyclic 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

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