Human Gene PDE7A (uc003xvq.3) Description and Page Index
  Description: Homo sapiens phosphodiesterase 7A (PDE7A), transcript variant 3, mRNA.
RefSeq Summary (NM_001242318): 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].
Transcript (Including UTRs)
   Position: hg19 chr8:66,626,569-66,753,969 Size: 127,401 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg19 chr8:66,631,525-66,753,743 Size: 122,219 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:66,626,569-66,753,969)mRNA (may differ from genome)Protein (482 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCHPRDLynxMGIneXtProtOMIM
PubMedReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: PDE7A_HUMAN
DESCRIPTION: RecName: Full=High affinity cAMP-specific 3',5'-cyclic phosphodiesterase 7A; EC=3.1.4.17; AltName: Full=HCP1; AltName: Full=TM22;
FUNCTION: Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. May have a role in muscle signal transduction.
CATALYTIC ACTIVITY: Adenosine 3',5'-cyclic phosphate + H(2)O = adenosine 5'-phosphate.
COFACTOR: Binds 2 divalent metal cations per subunit. Site 1 may preferentially bind zinc ions, while site 2 has a preference for magnesium and/or manganese ions.
ENZYME REGULATION: Insensitive to all selective PDE inhibitors.
PATHWAY: Purine metabolism; 3',5'-cyclic AMP degradation; AMP from 3',5'-cyclic AMP: step 1/1.
SUBUNIT: Interacts with CBFA2T3.
SUBCELLULAR LOCATION: Isoform PDE7A1: Cytoplasm, cytosol. Note=PDE7A1 (57 kDa) is located mostly to soluble cellular fractions.
SUBCELLULAR LOCATION: Isoform PDE7A2: Cytoplasm. Note=PDE7A2 (50 kDa) is located to particulate cellular fractions.
TISSUE SPECIFICITY: PDE7A1 is found at high levels in skeletal muscle and at low levels in a variety of tissues including brain and heart. It is expressed as well in two T-cell lines. PDE7A2 is found abundantly in skeletal muscle and at low levels in heart.
DEVELOPMENTAL STAGE: Developmentally regulated. PDE7A1 and PDE7A2 are found in several fetal tissues, expression is reduced throughout development. It persists strongly only in adult skeletal muscle.
DOMAIN: Composed of a C-terminal catalytic domain containing two putative divalent metal sites and an N-terminal regulatory domain.
SIMILARITY: Belongs to the cyclic nucleotide phosphodiesterase family. PDE7 subfamily.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PDE7A
CDC HuGE Published Literature: PDE7A
Positive Disease Associations: Hemoglobins , HIV-1
Related Studies:
  1. Hemoglobins
    Qiong Yang et al. BMC medical genetics 2007, Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903294]
    Using genome-wide association methodology, we have successfully identified a SNP in complete LD with a sequence variant previously shown to be strongly associated with factor VII, providing proof of principle for this approach. Further study of additional strongly associated SNPs and linked regions may identify novel variants that influence the inter-individual variability in hemostatic factors and hematological phenotypes.
  2. HIV-1
    Jairam R Lingappa et al. PloS one 2012, Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure., PloS one. [PubMed 22174851]
    This GWAS controlling for HIV-1 exposure did not identify common host genotypes influencing HIV-1 acquisition. Alternative strategies, such as large-scale sequencing to identify low frequency variation, should be considered for identifying novel host genetic predictors of HIV-1 acquisition.

-  MalaCards Disease Associations
  MalaCards Gene Search: PDE7A
Diseases sorted by gene-association score: chronic lymphocytic leukemia (2), low compliance bladder (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.93 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 91.62 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -154.40226-0.683 Picture PostScript Text
3' UTR -1706.244956-0.344 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003607 - HD/PDEase_dom
IPR023088 - PDEase
IPR002073 - PDEase_catalytic_dom
IPR023174 - PDEase_CS

Pfam Domains:
PF00233 - 3'5'-cyclic nucleotide phosphodiesterase

SCOP Domains:
109604 - HD-domain/PDEase-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1ZKL
- X-ray MuPIT

3G3N
- X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q13946
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
 Gene Details    
 Gene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004114 3',5'-cyclic-nucleotide phosphodiesterase activity
GO:0004115 3',5'-cyclic-AMP phosphodiesterase activity
GO:0008081 phosphoric diester hydrolase activity
GO:0016787 hydrolase activity
GO:0046872 metal ion binding

Biological Process:
GO:0006198 cAMP catabolic process
GO:0007165 signal transduction
GO:0007186 G-protein coupled receptor signaling pathway

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  L12052 - Homo sapiens cAMP phosphodiesterase PDE7 (PDE7A1) mRNA, complete cds.
KJ896643 - Synthetic construct Homo sapiens clone ccsbBroadEn_06037 CRH gene, encodes complete protein.
AK292680 - Homo sapiens cDNA FLJ77517 complete cds, highly similar to Homo sapiens cAMP phosphodiesterase PDE7 (PDE7A1) mRNA.
AF332652 - Homo sapiens cAMP-specific cyclic nucleotide phosphodiesterase PDE7A3 mRNA, complete cds.
AY266364 - Homo sapiens phosphodiesterase isozyme 7 (PDE7) mRNA, partial cds.
JD113507 - Sequence 94531 from Patent EP1572962.
JD041466 - Sequence 22490 from Patent EP1572962.
JD560771 - Sequence 541795 from Patent EP1572962.
JD415672 - Sequence 396696 from Patent EP1572962.
JD256626 - Sequence 237650 from Patent EP1572962.
JD122151 - Sequence 103175 from Patent EP1572962.
JD213285 - Sequence 194309 from Patent EP1572962.
JD407653 - Sequence 388677 from Patent EP1572962.
JD256833 - Sequence 237857 from Patent EP1572962.
JD059656 - Sequence 40680 from Patent EP1572962.
JD152329 - Sequence 133353 from Patent EP1572962.
JD258808 - Sequence 239832 from Patent EP1572962.
JD213284 - Sequence 194308 from Patent EP1572962.
AK057586 - Homo sapiens cDNA FLJ33024 fis, clone THYMU1000532, moderately similar to HIGH-AFFINITY CAMP-SPECIFIC 3',5'-CYCLIC PHOSPHODIESTERASE (EC 3.1.4.17).
JD282222 - Sequence 263246 from Patent EP1572962.
KJ891767 - Synthetic construct Homo sapiens clone ccsbBroadEn_01161 PDE7A gene, encodes complete protein.
JD494908 - Sequence 475932 from Patent EP1572962.
JD119835 - Sequence 100859 from Patent EP1572962.
AK290801 - Homo sapiens cDNA FLJ76148 complete cds, highly similar to Homo sapiens phosphodiesterase 7A (PDE7A), transcript variant 1, mRNA.
JD424002 - Sequence 405026 from Patent EP1572962.
U67932 - Homo sapiens cAMP phosphodiesterase PDE7 (PDE7A2) mRNA, complete cds.
BC126360 - Homo sapiens phosphodiesterase 7A, mRNA (cDNA clone MGC:161638 IMAGE:8992076), complete cds.
JD284490 - Sequence 265514 from Patent EP1572962.
JD558092 - Sequence 539116 from Patent EP1572962.
JD314317 - Sequence 295341 from Patent EP1572962.
JD316103 - Sequence 297127 from Patent EP1572962.
JD041006 - Sequence 22030 from Patent EP1572962.
JD169071 - Sequence 150095 from Patent EP1572962.
HQ258418 - Synthetic construct Homo sapiens clone IMAGE:100072847 phosphodiesterase 7A (PDE7A), transcript variant 1 (PDE7A) gene, encodes complete protein.
BC058025 - Homo sapiens phosphodiesterase 7A, mRNA (cDNA clone IMAGE:4610569), partial cds.
LF206080 - JP 2014500723-A/13583: Polycomb-Associated Non-Coding RNAs.
LF351181 - JP 2014500723-A/158684: Polycomb-Associated Non-Coding RNAs.
MA586758 - JP 2018138019-A/158684: Polycomb-Associated Non-Coding RNAs.
MA441657 - JP 2018138019-A/13583: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00230 - Purine metabolism

Reactome (by CSHL, EBI, and GO)

Protein Q13946 (Reactome details) participates in the following event(s):

R-HSA-418553 cAMP degradation by Phosphodiesterases
R-HSA-418555 G alpha (s) signalling events
R-HSA-388396 GPCR downstream signalling
R-HSA-372790 Signaling by GPCR
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: A0AVH6, A8K436, A8K9G5, NM_001242318, NP_001229247, O15380, PDE7A_HUMAN, Q13946, Q96T72
UCSC ID: uc003xvq.3
RefSeq Accession: NM_001242318
Protein: Q13946 (aka PDE7A_HUMAN or CN7A_HUMAN)
CCDS: CCDS56538.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001242318.2
exon count: 13CDS single in 3' UTR: no RNA size: 6641
ORF size: 1449CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3098.00frame shift in genome: no % Coverage: 99.85
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.