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    PDE8A phosphodiesterase 8A [ Homo sapiens (human) ]

    Gene ID: 5151, updated on 10-Dec-2024

    Summary

    Official Symbol
    PDE8Aprovided by HGNC
    Official Full Name
    phosphodiesterase 8Aprovided by HGNC
    Primary source
    HGNC:HGNC:8793
    See related
    Ensembl:ENSG00000073417 MIM:602972; AllianceGenome:HGNC:8793
    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
    HsT19550
    Summary
    The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE8 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 found for this gene.[provided by RefSeq, Jul 2011]
    Expression
    Ubiquitous expression in colon (RPKM 9.5), kidney (RPKM 8.2) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PDE8A in Genome Data Viewer
    Location:
    15q25.3
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (84980467..85139142)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (82732711..82891368)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (85523698..85682373)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 28 member 1 Neighboring gene RNA, U6 small nuclear 796, pseudogene Neighboring gene high mobility group box 1 pseudogene 43 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41947 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:85522585-85523086 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:85523087-85523586 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6775 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85524736-85525268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9996 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9997 Neighboring gene Sharpr-MPRA regulatory region 10787 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6777 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9998 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9999 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10000 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10001 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41972 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_42025 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:85668261-85668811 Neighboring gene uncharacterized LOC124903545 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_42032 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:85708039-85708575 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6778 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:85741901-85742401 Neighboring gene NIFK pseudogene 8 Neighboring gene chondroitin sulfate proteoglycan 4 pseudogene 12

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (10 hits/1278 screens)

    EBI GWAS Catalog

    Description
    Genetic variants associated with disordered eating.
    EBI GWAS Catalog
    New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    HIV-1 replication is enhanced by PDE8A PubMed
    shRNA knockdown of PDE8A decreases HIV-1 replication in primary monocytes; HIV-1 replication is enhanced by PDE8A PubMed
    Knockdown of phosphodiesterase 8A (PDE8A) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    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

    Interactions

    General gene information

    Clone Names

    • FLJ16150

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cytosol  
    located_in extracellular exosome PubMed 

    General protein information

    Preferred Names
    high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A
    Names
    cAMP-specific cyclic nucleotide phosphodiesterase 8A
    NP_001230066.1
    NP_002596.1
    NP_775656.1
    XP_011519970.1
    XP_016877799.1
    XP_047288612.1
    XP_047288613.1
    XP_047288614.1
    XP_047288615.1
    XP_047288616.1
    XP_047288617.1
    XP_054234150.1
    XP_054234151.1
    XP_054234152.1
    XP_054234153.1
    XP_054234154.1
    XP_054234155.1
    XP_054234156.1
    XP_054234157.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_029630.1 RefSeqGene

      Range
      6344..163630
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001243137.2 → NP_001230066.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' terminal exon compared to variant 1. This results in translation initiation from an in-frame downstream AUG, and an isoform (3) with a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC087468, AF388183, AK074280, BC060762
      Consensus CDS
      CCDS58397.1
      UniProtKB/Swiss-Prot
      O60658
      Related
      ENSP00000453808.1, ENST00000557957.5
      Conserved Domains (5) summary
      COG0745
      Location:10 → 87
      OmpR; DNA-binding response regulator, OmpR family, contains REC and winged-helix (wHTH) domain [Signal transduction mechanisms, Transcription]
      cd00130
      Location:158 → 252
      PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
      pfam00233
      Location:483 → 735
      PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
      pfam13426
      Location:154 → 252
      PAS_9; PAS domain
      cl19078
      Location:11 → 98
      REC; Signal receiver domain; originally thought to be unique to bacteria (CheY, OmpR, NtrC, and PhoB), now recently identified in eukaroytes ETR1 Arabidopsis thaliana; this domain receives the signal from the sensor partner in a two-component systems; ...
    2. NM_002605.3 → NP_002596.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A isoform 1

      See identical proteins and their annotated locations for NP_002596.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript, and encodes the longest isoform (1).
      Source sequence(s)
      AC087468, AF388183, BC060762
      Consensus CDS
      CCDS10336.1
      UniProtKB/Swiss-Prot
      B3KXE6, H0YMZ7, O60658, Q6P9H3, Q969I1, Q96PC9, Q96PD0, Q96PD1, Q96T71, Q9UMB7, Q9UMC3
      Related
      ENSP00000378056.1, ENST00000394553.6
      Conserved Domains (5) summary
      COG0745
      Location:82 → 159
      OmpR; DNA-binding response regulator, OmpR family, contains REC and winged-helix (wHTH) domain [Signal transduction mechanisms, Transcription]
      cd00130
      Location:230 → 324
      PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
      pfam00233
      Location:555 → 807
      PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
      pfam13426
      Location:226 → 324
      PAS_9; PAS domain
      cl19078
      Location:83 → 170
      REC; Signal receiver domain; originally thought to be unique to bacteria (CheY, OmpR, NtrC, and PhoB), now recently identified in eukaroytes ETR1 Arabidopsis thaliana; this domain receives the signal from the sensor partner in a two-component systems; ...
    3. NM_173454.1 → NP_775656.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A isoform 2

      See identical proteins and their annotated locations for NP_775656.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame coding exon compared to variant 1. This results in a shorter isoform (2) missing an internal protein segment compared to isoform 1.
      Source sequence(s)
      AF388184, BC060762
      Consensus CDS
      CCDS10337.1
      UniProtKB/Swiss-Prot
      O60658
      Related
      ENSP00000340679.5, ENST00000339708.9
      Conserved Domains (3) summary
      COG0745
      Location:82 → 159
      OmpR; DNA-binding response regulator, OmpR family, contains REC and winged-helix (wHTH) domain [Signal transduction mechanisms, Transcription]
      pfam00233
      Location:509 → 761
      PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
      cl19078
      Location:83 → 170
      REC; Signal receiver domain; originally thought to be unique to bacteria (CheY, OmpR, NtrC, and PhoB), now recently identified in eukaroytes ETR1 Arabidopsis thaliana; this domain receives the signal from the sensor partner in a two-component systems; ...

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      84980467..85139142
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047432657.1 → XP_047288613.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A isoform X2

    2. XM_017022310.3 → XP_016877799.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A isoform X4

    3. XM_047432661.1 → XP_047288617.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A isoform X8

    4. XM_047432656.1 → XP_047288612.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A isoform X1

    5. XM_047432658.1 → XP_047288614.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A isoform X3

    6. XM_047432660.1 → XP_047288616.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A isoform X7

    7. XM_047432659.1 → XP_047288615.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A isoform X5

    8. XM_011521668.3 → XP_011519970.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A isoform X6

      Conserved Domains (1) summary
      pfam00233
      Location:297 → 549
      PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase

    RNA

    1. XR_007064457.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      82732711..82891368
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054378176.1 → XP_054234151.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A isoform X2

    2. XM_054378178.1 → XP_054234153.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A isoform X4

    3. XM_054378182.1 → XP_054234157.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A isoform X8

    4. XM_054378175.1 → XP_054234150.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A isoform X1

    5. XM_054378177.1 → XP_054234152.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A isoform X3

    6. XM_054378181.1 → XP_054234156.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A isoform X7

    7. XM_054378179.1 → XP_054234154.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A isoform X5

    8. XM_054378180.1 → XP_054234155.1  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A isoform X6

    RNA

    1. XR_008488965.1 RNA Sequence

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