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
ID:PDE7A_HUMAN DESCRIPTION: RecName: Full=High affinity cAMP-specific 3',5'-cyclic phosphodiesterase 7A; EC=220.127.116.11; 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:
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.
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.
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.
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.
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.
ModBase Predicted Comparative 3D Structure on Q13946
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.