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PDE9A phosphodiesterase 9A [ Homo sapiens (human) ]

Gene ID: 5152, updated on 9-Dec-2018

Summary

Official Symbol
PDE9Aprovided by HGNC
Official Full Name
phosphodiesterase 9Aprovided by HGNC
Primary source
HGNC:HGNC:8795
See related
Ensembl:ENSG00000160191 MIM:602973
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
HSPDE9A2
Summary
The protein encoded by this gene catalyzes the hydrolysis of cAMP and cGMP to their corresponding monophosphates. The encoded protein plays a role in signal transduction by regulating the intracellular concentration of these cyclic nucleotides. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Broad expression in colon (RPKM 12.5), prostate (RPKM 9.8) and 17 other tissues See more
Orthologs

Genomic context

See PDE9A in Genome Data Viewer
Location:
21q22.3
Exon count:
25
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 21 NC_000021.9 (42653752..42775509)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (44073862..44195619)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1671 Neighboring gene uncharacterized LOC101928255 Neighboring gene uncharacterized LOC105372816 Neighboring gene uncharacterized LOC101928284 Neighboring gene uncharacterized LOC107985504 Neighboring gene uncharacterized LOC107985479 Neighboring gene long intergenic non-protein coding RNA 1668

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of lung function decline in adults with and without asthma.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vif vif HIV-1 Vif downregulates the expression of phosphodiesterase 9A (PDE9A) in Vif-expression T cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ90181

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3',5'-cyclic-GMP phosphodiesterase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
3',5'-cyclic-GMP phosphodiesterase activity IDA
Inferred from Direct Assay
more info
PubMed 
3',5'-cyclic-GMP phosphodiesterase activity TAS
Traceable Author Statement
more info
 
3',5'-cyclic-nucleotide phosphodiesterase activity TAS
Traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cGMP catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cGMP catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
cGMP catabolic process IEA
Inferred from Electronic Annotation
more info
 
cGMP metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
cGMP-mediated signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of cardiac muscle hypertrophy ISS
Inferred from Sequence or Structural Similarity
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
cytosol HDA PubMed 
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
perikaryon IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
ruffle membrane IEA
Inferred from Electronic Annotation
more info
 
sarcolemma IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A
Names
CGMP-specific 3',5'-cyclic phosphodiesterase type 9
phosphodiesterase PDE9A21
NP_001001567.1
NP_001001568.1
NP_001001569.1
NP_001001570.1
NP_001001571.1
NP_001001572.1
NP_001001573.1
NP_001001574.1
NP_001001575.1
NP_001001576.1
NP_001001577.1
NP_001001578.1
NP_001001579.1
NP_001001580.1
NP_001001581.1
NP_001001582.1
NP_001001583.1
NP_001001584.1
NP_001001585.1
NP_001302462.1
NP_002597.1
XP_011527900.1
XP_011527902.1
XP_016883855.1
XP_016883856.1
XP_024307852.1

NCBI Reference Sequences (RefSeq)

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_047067.1 RefSeqGene

    Range
    5001..126758
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001001567.1NP_001001567.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform b

    See identical proteins and their annotated locations for NP_001001567.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but lacks an internal segment compared to isoform a.
    Source sequence(s)
    AF048837, AF067223, AF067224, AI492065, BC009047
    Consensus CDS
    CCDS33568.1
    UniProtKB/Swiss-Prot
    O76083
    UniProtKB/TrEMBL
    A0A0S2Z4A3
    Related
    ENSP00000335242.4, ENST00000335512.8
    Conserved Domains (1) summary
    pfam00233
    Location:251479
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  2. NM_001001568.1NP_001001568.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform c

    See identical proteins and their annotated locations for NP_001001568.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks three alternate exons compared to variant 1. The resulting predicted isoform (c) is shorter and has a distinct N-terminus compared to isoform a.
    Source sequence(s)
    AF048837, AF067223, AF067225, AI492065, AY196305, BC009047
    Consensus CDS
    CCDS42946.1
    UniProtKB/Swiss-Prot
    O76083
    Related
    ENSP00000381280.3, ENST00000398224.3
    Conserved Domains (1) summary
    pfam00233
    Location:184412
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  3. NM_001001569.1NP_001001569.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform d

    See identical proteins and their annotated locations for NP_001001569.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks four alternate exons compared to variant 1. The resulting predicted isoform (d) is shorter and has a distinct N-terminus compared to isoform a.
    Source sequence(s)
    AF048837, AF067223, AF067226, AI492065, AY196305, BC009047
    Consensus CDS
    CCDS33571.1
    UniProtKB/Swiss-Prot
    O76083
    UniProtKB/TrEMBL
    A0A0S2Z475
    Related
    ENSP00000344730.3, ENST00000349112.7
    Conserved Domains (1) summary
    pfam00233
    Location:183411
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  4. NM_001001570.1NP_001001570.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform e

    See identical proteins and their annotated locations for NP_001001570.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an alternate exon and lacks two others compared to variant 1. The resulting isoform (e) has the same N- and C-termini but differs in an internal segment compared to isoform a.
    Source sequence(s)
    AF048837, AF067223, AI492065, AY196299, BC009047
    Consensus CDS
    CCDS33567.1
    UniProtKB/Swiss-Prot
    O76083
    Related
    ENSP00000369685.2, ENST00000380328.6
    Conserved Domains (1) summary
    pfam00233
    Location:258486
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  5. NM_001001571.1NP_001001571.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform f

    See identical proteins and their annotated locations for NP_001001571.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks two alternate exons compared to variant 1. The resulting predicted isoform (f) is shorter, has a distinct N-terminus, and lacks an internal segment compared to isoform a.
    Source sequence(s)
    AF048837, AF067223, AI492065, AY196300, BC009047
    Consensus CDS
    CCDS42943.1
    UniProtKB/Swiss-Prot
    O76083
    Related
    ENSP00000381289.3, ENST00000398234.7
    Conserved Domains (1) summary
    pfam00233
    Location:210438
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  6. NM_001001572.1NP_001001572.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform g

    See identical proteins and their annotated locations for NP_001001572.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks four alternate exons compared to variant 1. The resulting predicted isoform (g) has a shorter N-terminus compared to isoform a. Variants 7, 8, 14, 19, and 20 all encode isoform g.
    Source sequence(s)
    AF048837, AF067223, AI492065, AY196301, BC009047
    UniProtKB/Swiss-Prot
    O76083
    Conserved Domains (1) summary
    pfam00233
    Location:104332
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  7. NM_001001573.1NP_001001573.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform g

    See identical proteins and their annotated locations for NP_001001573.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks three alternate exons compared to variant 1. The resulting predicted isoform (g) has a shorter N-terminus compared to isoform a. Variants 7, 8, 14, 19, and 20 all encode isoform g.
    Source sequence(s)
    AF048837, AF067223, AI492065, AY196302, BC009047
    UniProtKB/Swiss-Prot
    O76083
    Conserved Domains (1) summary
    pfam00233
    Location:104332
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  8. NM_001001574.1NP_001001574.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform h

    See identical proteins and their annotated locations for NP_001001574.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (h) has the same N- and C-termini but lacks two internal segments compared to isoform a.
    Source sequence(s)
    AF048837, AF067223, AI492065, AY196303, BC009047
    Consensus CDS
    CCDS42941.1
    UniProtKB/Swiss-Prot
    O76083
    Related
    ENSP00000381291.3, ENST00000398236.7
    Conserved Domains (1) summary
    pfam00233
    Location:225453
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  9. NM_001001575.1NP_001001575.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform i

    See identical proteins and their annotated locations for NP_001001575.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) lacks five alternate exons compared to variant 1. The resulting predicted isoform (i) is shorter and has a distinct N-terminus compared to isoform a.
    Source sequence(s)
    AF048837, AF067223, AI492065, AY196304, BC009047
    Consensus CDS
    CCDS42947.1
    UniProtKB/Swiss-Prot
    O76083
    Related
    ENSP00000381283.3, ENST00000398227.7
    Conserved Domains (1) summary
    pfam00233
    Location:151379
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  10. NM_001001576.1NP_001001576.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform j

    See identical proteins and their annotated locations for NP_001001576.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) lacks five alternate exons compared to variant 1. The resulting predicted isoform (j) is shorter and has a distinct N-terminus compared to isoform a. Variants 11 and 15 both encode isoform j.
    Source sequence(s)
    AF048837, AF067223, AI492065, AY196305, BC009047
    UniProtKB/Swiss-Prot
    O76083
    Conserved Domains (1) summary
    pfam00233
    Location:94322
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  11. NM_001001577.1NP_001001577.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform k

    See identical proteins and their annotated locations for NP_001001577.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12) lacks four alternate exons compared to variant 1. The resulting predicted isoform (k) is shorter, has a distinct N-terminus, and lacks an internal segment compared to isoform a.
    Source sequence(s)
    AF048837, AF067223, AI492065, AY196306, BC009047
    Consensus CDS
    CCDS42944.1
    UniProtKB/Swiss-Prot
    O76083
    Related
    ENSP00000381285.3, ENST00000398229.7
    Conserved Domains (1) summary
    pfam00233
    Location:177405
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  12. NM_001001578.1NP_001001578.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform l

    See identical proteins and their annotated locations for NP_001001578.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13) lacks three alternate exons compared to variant 1. The resulting isoform (l) has the same N- and C-termini but lacks two internal segments compared to isoform a.
    Source sequence(s)
    AF048837, AF067223, AI492065, AY196307, BC009047
    Consensus CDS
    CCDS33570.1
    UniProtKB/Swiss-Prot
    O76083
    Related
    ENSP00000335365.6, ENST00000335440.10
    Conserved Domains (1) summary
    pfam00233
    Location:209437
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  13. NM_001001579.1NP_001001579.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform g

    See identical proteins and their annotated locations for NP_001001579.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14) lacks three alternate exons compared to variant 1. The resulting predicted isoform (g) has a shorter N-terminus compared to isoform a. Variants 7, 8, 14, 19, and 20 all encode isoform g.
    Source sequence(s)
    AF048837, AF067223, AI492065, AY196308, BC009047
    UniProtKB/Swiss-Prot
    O76083
    Conserved Domains (1) summary
    pfam00233
    Location:104332
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  14. NM_001001580.1NP_001001580.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform j

    See identical proteins and their annotated locations for NP_001001580.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (15) lacks six alternate exons compared to variant 1. The resulting predicted isoform (j) is shorter and has a distinct N-terminus compared to isoform a. Variants 11 and 15 both encode isoform j.
    Source sequence(s)
    AF048837, AF067223, AI492065, AY196309, BC009047
    UniProtKB/Swiss-Prot
    O76083
    Conserved Domains (1) summary
    pfam00233
    Location:94322
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  15. NM_001001581.1NP_001001581.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform m

    See identical proteins and their annotated locations for NP_001001581.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (16) lacks two alternate exons compared to variant 1. The resulting predicted isoform (m) is shorter and has a distinct N-terminus compared to isoform a.
    Source sequence(s)
    AF048837, AF067223, AI492065, AY196310, BC009047
    Consensus CDS
    CCDS42945.1
    UniProtKB/Swiss-Prot
    O76083
    Related
    ENSP00000381287.3, ENST00000398232.7
    Conserved Domains (1) summary
    pfam00233
    Location:244472
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  16. NM_001001582.1NP_001001582.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform n

    See identical proteins and their annotated locations for NP_001001582.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (17) lacks an alternate exon compared to variant 1. The resulting predicted isoform (n) is shorter and has a distinct N-terminus compared to isoform a.
    Source sequence(s)
    AF048837, AF067223, AI492065, AY196311, BC009047
    Consensus CDS
    CCDS42942.1
    UniProtKB/Swiss-Prot
    O76083
    Related
    ENSP00000381281.3, ENST00000398225.7
    Conserved Domains (1) summary
    pfam00233
    Location:270498
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  17. NM_001001583.1NP_001001583.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform o

    See identical proteins and their annotated locations for NP_001001583.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (18) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (o) has the same N- and C-termini but lacks an internal segment compared to isoform a.
    Source sequence(s)
    AF048837, AF067223, AI492065, AY196312, BC009047
    Consensus CDS
    CCDS33569.1
    UniProtKB/Swiss-Prot
    O76083
    Related
    ENSP00000328699.6, ENST00000328862.10
    Conserved Domains (1) summary
    pfam00233
    Location:285513
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  18. NM_001001584.2NP_001001584.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform g

    See identical proteins and their annotated locations for NP_001001584.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (19) contains an alternate exon and lacks three others compared to variant 1. The resulting predicted isoform (g) has a shorter N-terminus compared to isoform a. Variants 7, 8, 14, 19, and 20 all encode isoform g.
    Source sequence(s)
    AF048837, AF067223, AI492065, AP001627, AY196313, BC009047
    UniProtKB/Swiss-Prot
    O76083
    Conserved Domains (1) summary
    pfam00233
    Location:104332
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  19. NM_001001585.1NP_001001585.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform g

    See identical proteins and their annotated locations for NP_001001585.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (20) lacks two alternate exons compared to variant 1. The resulting predicted isoform (g) has a shorter N-terminus compared to isoform a. Variants 7, 8, 14, 19, and 20 all encode isoform g.
    Source sequence(s)
    AF048837, AF067223, AI492065, AY196314, BC009047
    UniProtKB/Swiss-Prot
    O76083
    Conserved Domains (1) summary
    pfam00233
    Location:104332
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  20. NM_001315533.1NP_001302462.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform p

    Status: REVIEWED

    Description
    Transcript Variant: This variant (21) differs in the 5' UTR and coding sequence and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (p) has a shorter and distinct N-terminus and lacks an alternate internal segment compared to isoform a.
    Source sequence(s)
    AI492065, AP001628, AY701187
    UniProtKB/Swiss-Prot
    O76083
    Conserved Domains (1) summary
    pfam00233
    Location:203431
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  21. NM_002606.3NP_002597.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform a

    See identical proteins and their annotated locations for NP_002597.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AF048837, AF067223, AI492065, AP001626, BC009047
    Consensus CDS
    CCDS13690.1
    UniProtKB/Swiss-Prot
    O76083
    UniProtKB/TrEMBL
    A0A0S2Z4T6
    Related
    ENSP00000291539.6, ENST00000291539.10
    Conserved Domains (1) summary
    pfam00233
    Location:311539
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p12 Primary Assembly

    Range
    42653752..42775509
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028366.1XP_016883855.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform X4

    UniProtKB/Swiss-Prot
    O76083
    Conserved Domains (1) summary
    pfam00233
    Location:104332
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  2. XM_011529600.2XP_011527902.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform X3

    Conserved Domains (1) summary
    pfam00233
    Location:311452
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  3. XM_017028367.1XP_016883856.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform X5

  4. XM_011529598.2XP_011527900.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform X1

    Conserved Domains (1) summary
    pfam00233
    Location:263491
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  5. XM_024452084.1XP_024307852.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform X2

    Conserved Domains (1) summary
    pfam00233
    Location:263491
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
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