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PDE9A phosphodiesterase 9A [ Homo sapiens (human) ]

Gene ID: 5152, updated on 16-Apr-2014
Official Symbol
PDE9Aprovided by HGNC
Official Full Name
phosphodiesterase 9Aprovided by HGNC
Primary source
HGNC:8795
See related
Ensembl:ENSG00000160191; HPRD:09115; MIM:602973; Vega:OTTHUMG00000086825
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]
Location :
21q22.3
Sequence :
Chromosome: 21; NC_000021.9 (42653752..42775509)
See PDE9A in Epigenomics, MapViewer

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928233 Neighboring gene uncharacterized LOC101928255 Neighboring gene uncharacterized LOC101928284 Neighboring gene uncharacterized LOC101928311 Neighboring gene WD repeat domain 4

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association study of lung function decline in adults with and without asthma.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3',5'-cyclic-GMP phosphodiesterase activity IEA
Inferred from Electronic Annotation
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
blood coagulation TAS
Traceable Author Statement
more info
 
cGMP-mediated signaling IEA
Inferred from Electronic Annotation
more info
 
metabolic process TAS
Traceable Author Statement
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
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
 
Preferred Names
high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A
Names
high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A
phosphodiesterase PDE9A21
CGMP-specific 3',5'-cyclic phosphodiesterase type 9
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_002597.1

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.

mRNA and Protein(s)

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

    See proteins identical to 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
    Related
    ENSP00000335242, OTTHUMP00000109392, ENST00000335512, OTTHUMT00000195458
    Conserved Domains (2) summary
    pfam00233
    Location:251473
    Blast Score: 548
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    cd00077
    Location:252425
    Blast Score: 178
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
  2. NM_001001568.1NP_001001568.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform c

    See proteins identical to 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, OTTHUMP00000109390, ENST00000398224, OTTHUMT00000195455
    Conserved Domains (2) summary
    pfam00233
    Location:184406
    Blast Score: 544
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    cd00077
    Location:185358
    Blast Score: 174
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
  3. NM_001001569.1NP_001001569.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform d

    See proteins identical to 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
    Related
    ENSP00000344730, OTTHUMP00000109389, ENST00000349112, OTTHUMT00000195454
    Conserved Domains (2) summary
    pfam00233
    Location:183405
    Blast Score: 545
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    cd00077
    Location:184357
    Blast Score: 173
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
  4. NM_001001570.1NP_001001570.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform e

    See proteins identical to 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, OTTHUMP00000109388, ENST00000380328, OTTHUMT00000195451
    Conserved Domains (2) summary
    pfam00233
    Location:258480
    Blast Score: 544
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    cd00077
    Location:259432
    Blast Score: 176
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
  5. NM_001001571.1NP_001001571.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform f

    See proteins identical to 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, OTTHUMP00000109393, ENST00000398234, OTTHUMT00000195459
    Conserved Domains (2) summary
    pfam00233
    Location:210432
    Blast Score: 543
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    cd00077
    Location:211384
    Blast Score: 175
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
  6. NM_001001572.1NP_001001572.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform g

    See proteins identical to 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 (2) summary
    pfam00233
    Location:104326
    Blast Score: 541
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    cd00077
    Location:105278
    Blast Score: 176
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
  7. NM_001001573.1NP_001001573.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform g

    See proteins identical to 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 (2) summary
    pfam00233
    Location:104326
    Blast Score: 541
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    cd00077
    Location:105278
    Blast Score: 176
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
  8. NM_001001574.1NP_001001574.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform h

    See proteins identical to 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, OTTHUMP00000109394, ENST00000398236, OTTHUMT00000195460
    Conserved Domains (2) summary
    pfam00233
    Location:225447
    Blast Score: 549
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    cd00077
    Location:226399
    Blast Score: 176
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
  9. NM_001001575.1NP_001001575.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform i

    See proteins identical to 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, OTTHUMP00000109400, ENST00000398227, OTTHUMT00000195470
    Conserved Domains (2) summary
    pfam00233
    Location:151373
    Blast Score: 542
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    cd00077
    Location:152325
    Blast Score: 171
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
  10. NM_001001576.1NP_001001576.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform j

    See proteins identical to 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 (2) summary
    pfam00233
    Location:94316
    Blast Score: 540
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    cd00077
    Location:95268
    Blast Score: 177
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
  11. NM_001001577.1NP_001001577.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform k

    See proteins identical to 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, OTTHUMP00000109399, ENST00000398229, OTTHUMT00000195469
    Conserved Domains (2) summary
    pfam00233
    Location:177399
    Blast Score: 541
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    cd00077
    Location:178351
    Blast Score: 174
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
  12. NM_001001578.1NP_001001578.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform l

    See proteins identical to 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, OTTHUMP00000109396, ENST00000335440, OTTHUMT00000195463
    Conserved Domains (2) summary
    pfam00233
    Location:209431
    Blast Score: 539
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    cd00077
    Location:210383
    Blast Score: 165
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
  13. NM_001001579.1NP_001001579.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform g

    See proteins identical to 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 (2) summary
    pfam00233
    Location:104326
    Blast Score: 541
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    cd00077
    Location:105278
    Blast Score: 176
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
  14. NM_001001580.1NP_001001580.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform j

    See proteins identical to 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 (2) summary
    pfam00233
    Location:94316
    Blast Score: 540
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    cd00077
    Location:95268
    Blast Score: 177
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
  15. NM_001001581.1NP_001001581.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform m

    See proteins identical to 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, OTTHUMP00000109391, ENST00000398232, OTTHUMT00000195456
    Conserved Domains (2) summary
    pfam00233
    Location:244466
    Blast Score: 555
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    cd00077
    Location:245418
    Blast Score: 180
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
  16. NM_001001582.1NP_001001582.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform n

    See proteins identical to 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, OTTHUMP00000109397, ENST00000398225, OTTHUMT00000195464
    Conserved Domains (2) summary
    pfam00233
    Location:270492
    Blast Score: 554
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    cd00077
    Location:271444
    Blast Score: 181
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
  17. NM_001001583.1NP_001001583.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform o

    See proteins identical to 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, OTTHUMP00000109395, ENST00000328862, OTTHUMT00000195462
    Conserved Domains (2) summary
    pfam00233
    Location:285507
    Blast Score: 558
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    cd00077
    Location:286459
    Blast Score: 182
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
  18. NM_001001584.2NP_001001584.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform g

    See proteins identical to 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 (2) summary
    pfam00233
    Location:104326
    Blast Score: 541
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    cd00077
    Location:105278
    Blast Score: 176
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
  19. NM_001001585.1NP_001001585.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform g

    See proteins identical to 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 (2) summary
    pfam00233
    Location:104326
    Blast Score: 541
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    cd00077
    Location:105278
    Blast Score: 176
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
  20. NM_002606.2NP_002597.1  high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform a

    See proteins identical to 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, BC009047
    Consensus CDS
    CCDS13690.1
    UniProtKB/Swiss-Prot
    O76083
    Related
    ENSP00000291539, OTTHUMP00000109398, ENST00000291539, OTTHUMT00000195466
    Conserved Domains (2) summary
    pfam00233
    Location:311533
    Blast Score: 557
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    cd00077
    Location:312485
    Blast Score: 183
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000021.9

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

mRNA and Protein(s)

  1. XM_005261132.2XP_005261189.1  

    Conserved Domains (1) summary
    cd00077
    Location:312485
    Blast Score: 188
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif

Alternate HuRef

Genomic

  1. AC_000153.1 Alternate HuRef

    Range
    29521492..29610642
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018932.2 Alternate CHM1_1.1

    Range
    43634707..43756559
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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