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PDE1A phosphodiesterase 1A [ Homo sapiens (human) ]

Gene ID: 5136, updated on 26-Oct-2022

Summary

Official Symbol
PDE1Aprovided by HGNC
Official Full Name
phosphodiesterase 1Aprovided by HGNC
Primary source
HGNC:HGNC:8774
See related
Ensembl:ENSG00000115252 MIM:171890; AllianceGenome:HGNC:8774
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HCAM1; HCAM-1; HSPDE1A; CAM-PDE 1A; CAM-PDE-1A
Summary
Cyclic nucleotide phosphodiesterases (PDEs) play a role in signal transduction by regulating intracellular cyclic nucleotide concentrations through hydrolysis of cAMP and/or cGMP to their respective nucleoside 5-prime monophosphates. Members of the PDE1 family, such as PDE1A, are Ca(2+)/calmodulin (see CALM1; MIM 114180)-dependent PDEs (CaM-PDEs) that are activated by calmodulin in the presence of Ca(2+) (Michibata et al., 2001 [PubMed 11342109]; Fidock et al., 2002 [PubMed 11747989]).[supplied by OMIM, Oct 2009]
Expression
Broad expression in thyroid (RPKM 7.4), brain (RPKM 6.5) and 18 other tissues See more
Orthologs
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Genomic context

See PDE1A in Genome Data Viewer
Location:
2q32.1
Exon count:
28
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (182140041..182716797, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (182629098..183012113, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (183004768..183388033, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene protein phosphatase 1 regulatory inhibitor subunit 1C Neighboring gene uncharacterized LOC102724288 Neighboring gene RNA, 5S ribosomal pseudogene 113 Neighboring gene uncharacterized LOC124907915 Neighboring gene RNA, 7SL, cytoplasmic 267, pseudogene Neighboring gene uncharacterized LOC124907914 Neighboring gene uncharacterized LOC101929976 Neighboring gene DnaJ heat shock protein family (Hsp40) member C10 Neighboring gene ribosomal protein L31 pseudogene 15 Neighboring gene uncharacterized LOC124907916 Neighboring gene frizzled related protein

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 Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations
EBI GWAS Catalog

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC26303

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
 
is_active_in neuronal cell body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A; calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A
Names
61 kDa Cam-PDE
calcium/calmodulin-stimulated cyclic nucleotide phosphodiesterase
phosphodiesterase 1A, calmodulin-dependent
NP_001003683.1
NP_001245241.1
NP_001245242.1
NP_001245243.1
NP_001350800.1
NP_001382187.1
NP_001382188.1
NP_001382189.1
NP_001382190.1
NP_001382191.1
NP_001382192.1
NP_001382193.1
NP_001382194.1
NP_001382195.1
NP_001382196.1
NP_001382197.1
NP_001382198.1
NP_005010.2
XP_011509625.1
XP_011509626.1
XP_011509627.1
XP_011509628.1
XP_016859783.1
XP_047300644.1

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.

mRNA and Protein(s)

  1. NM_001003683.3NP_001003683.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform 2

    See identical proteins and their annotated locations for NP_001003683.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' and 3' UTRs, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC010888, AC011291, AC012500
    Consensus CDS
    CCDS33344.1
    UniProtKB/Swiss-Prot
    P54750, Q9UFX3
    Related
    ENSP00000387037.1, ENST00000410103.2
    Conserved Domains (2) summary
    pfam00233
    Location:218434
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam08499
    Location:77133
    PDEase_I_N; 3'5'-cyclic nucleotide phosphodiesterase N-terminal
  2. NM_001258312.3NP_001245241.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate start codon, compared to variant 1. The encoded isoform (3) is longer and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC010888, AC011291, AC012500
    UniProtKB/TrEMBL
    B7Z226, Q9Y633
    Conserved Domains (2) summary
    pfam00233
    Location:222438
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam08499
    Location:81137
    PDEase_I_N; 3'5'-cyclic nucleotide phosphodiesterase N-terminal
  3. NM_001258313.3NP_001245242.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform 4

    See identical proteins and their annotated locations for NP_001245242.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' and 3' UTRs and uses an alternate start codon, compared to variant 1. The encoded isoform (4) is shorter and has distinct N- and C-termini, compared to isoform 1.
    Source sequence(s)
    AC010888, AC011291, AC012500
    Consensus CDS
    CCDS58741.1
    UniProtKB/Swiss-Prot
    P54750
    Related
    ENSP00000309269.9, ENST00000351439.10
    Conserved Domains (2) summary
    pfam00233
    Location:202418
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam08499
    Location:61117
    PDEase_I_N; 3'5'-cyclic nucleotide phosphodiesterase N-terminal
  4. NM_001258314.3NP_001245243.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform 5

    See identical proteins and their annotated locations for NP_001245243.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' and 3' UTRs and uses an alternate start codon, compared to variant 1. The encoded isoform (5) is shorter and has distinct N- and C-termini, compared to isoform 1.
    Source sequence(s)
    AC011291
    Consensus CDS
    CCDS74612.1
    UniProtKB/Swiss-Prot
    P54750
    UniProtKB/TrEMBL
    B7Z7A2
    Related
    ENSP00000350858.3, ENST00000358139.6
    Conserved Domains (2) summary
    pfam00233
    Location:184400
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam08499
    Location:4399
    PDEase_I_N; 3'5'-cyclic nucleotide phosphodiesterase N-terminal
  5. NM_001363871.4NP_001350800.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform 6

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and uses an alternate start codon, compared to variant 1. The encoded isoform (6) is shorter and has distinct N- terminus, compared to isoform 1.
    Source sequence(s)
    AC010888, AC011291, AC012500
    Consensus CDS
    CCDS86900.1
    Related
    ENSP00000386767.1, ENST00000409365.6
    Conserved Domains (2) summary
    pfam00233
    Location:202418
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam08499
    Location:61117
    PDEase_I_N; 3'5'-cyclic nucleotide phosphodiesterase N-terminal
  6. NM_001395258.2NP_001382187.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC010888, AC011291, AC012500
    Consensus CDS
    CCDS2285.1
    Conserved Domains (2) summary
    pfam00233
    Location:218434
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam08499
    Location:77133
    PDEase_I_N; 3'5'-cyclic nucleotide phosphodiesterase N-terminal
  7. NM_001395259.2NP_001382188.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC010888, AC011291, AC012500
    Consensus CDS
    CCDS2285.1
    Related
    ENSP00000512257.1, ENST00000482782.6
    Conserved Domains (2) summary
    pfam00233
    Location:218434
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam08499
    Location:77133
    PDEase_I_N; 3'5'-cyclic nucleotide phosphodiesterase N-terminal
  8. NM_001395260.2NP_001382189.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC010888, AC011291, AC012500
    Consensus CDS
    CCDS2285.1
    Conserved Domains (2) summary
    pfam00233
    Location:218434
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam08499
    Location:77133
    PDEase_I_N; 3'5'-cyclic nucleotide phosphodiesterase N-terminal
  9. NM_001395261.2NP_001382190.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC010888, AC011291, AC012500
    Consensus CDS
    CCDS2285.1
    Conserved Domains (2) summary
    pfam00233
    Location:218434
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam08499
    Location:77133
    PDEase_I_N; 3'5'-cyclic nucleotide phosphodiesterase N-terminal
  10. NM_001395262.1NP_001382191.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC010888, AC011291, AC012500
    Consensus CDS
    CCDS33344.1
    UniProtKB/Swiss-Prot
    Q9UFX3
    Related
    ENSP00000512258.1, ENST00000495511.2
    Conserved Domains (2) summary
    pfam00233
    Location:218434
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam08499
    Location:77133
    PDEase_I_N; 3'5'-cyclic nucleotide phosphodiesterase N-terminal
  11. NM_001395263.1NP_001382192.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC010888, AC011291, AC012500
    Consensus CDS
    CCDS33344.1
    UniProtKB/Swiss-Prot
    Q9UFX3
    Conserved Domains (2) summary
    pfam00233
    Location:218434
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam08499
    Location:77133
    PDEase_I_N; 3'5'-cyclic nucleotide phosphodiesterase N-terminal
  12. NM_001395264.1NP_001382193.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC010888, AC011291, AC012500
    Conserved Domains (1) summary
    cd00077
    Location:202373
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
  13. NM_001395265.2NP_001382194.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC010888, AC011291, AC012500
    UniProtKB/TrEMBL
    B7Z3A7
    Conserved Domains (2) summary
    pfam00233
    Location:114330
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam08499
    Location:1429
    PDEase_I_N; 3'5'-cyclic nucleotide phosphodiesterase N-terminal
  14. NM_001395266.1NP_001382195.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform 9

    Status: VALIDATED

    Source sequence(s)
    AC010888, AC011291, AC012500
    Conserved Domains (1) summary
    cd00077
    Location:218389
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
  15. NM_001395267.1NP_001382196.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform 9

    Status: VALIDATED

    Source sequence(s)
    AC010888, AC011291, AC012500
    Conserved Domains (1) summary
    cd00077
    Location:218389
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
  16. NM_001395268.1NP_001382197.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform 10

    Status: VALIDATED

    Source sequence(s)
    AC010888, AC011291, AC012500
    Conserved Domains (1) summary
    cd00077
    Location:202373
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
  17. NM_001395269.1NP_001382198.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform 11

    Status: VALIDATED

    Source sequence(s)
    AC011291
    Conserved Domains (1) summary
    cd00077
    Location:184355
    HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
  18. NM_005019.7NP_005010.2  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform 1

    See identical proteins and their annotated locations for NP_005010.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AC010888, AC011291, AC012500
    Consensus CDS
    CCDS2285.1
    UniProtKB/Swiss-Prot
    P54750
    Related
    ENSP00000410309.1, ENST00000435564.6
    Conserved Domains (2) summary
    pfam00233
    Location:218434
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam08499
    Location:77133
    PDEase_I_N; 3'5'-cyclic nucleotide phosphodiesterase N-terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    182140041..182716797 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047444688.1XP_047300644.1  calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform X4

  2. XM_011511326.3XP_011509628.1  calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform X6

    Conserved Domains (2) summary
    pfam00233
    Location:184400
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam08499
    Location:4399
    PDEase_I_N; 3'5'-cyclic nucleotide phosphodiesterase N-terminal
  3. XM_017004294.3XP_016859783.1  calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform X2

  4. XM_011511323.3XP_011509625.1  calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform X1

    Conserved Domains (2) summary
    pfam00233
    Location:218434
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam08499
    Location:77133
    PDEase_I_N; 3'5'-cyclic nucleotide phosphodiesterase N-terminal
  5. XM_011511325.4XP_011509627.1  calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform X5

    Conserved Domains (2) summary
    pfam00233
    Location:202418
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam08499
    Location:61117
    PDEase_I_N; 3'5'-cyclic nucleotide phosphodiesterase N-terminal
  6. XM_011511324.4XP_011509626.1  calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform X3

    Conserved Domains (2) summary
    pfam00233
    Location:218434
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam08499
    Location:77133
    PDEase_I_N; 3'5'-cyclic nucleotide phosphodiesterase N-terminal

RNA

  1. XR_007076388.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    182629098..183012113 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)