Format

Send to:

Choose Destination

PDE1A phosphodiesterase 1A [ Homo sapiens (human) ]

Gene ID: 5136, updated on 1-Jun-2020

Summary

Official Symbol
PDE1Aprovided by HGNC
Official Full Name
phosphodiesterase 1Aprovided by HGNC
Primary source
HGNC:HGNC:8774
See related
Ensembl:ENSG00000115252 MIM:171890
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

Genomic context

See PDE1A in Genome Data Viewer
Location:
2q32.1
Exon count:
24
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (182136453..182523375, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (183004762..183387572, 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 RNA, 7SL, cytoplasmic 267, pseudogene Neighboring gene uncharacterized LOC101929976 Neighboring gene DnaJ heat shock protein family (Hsp40) member C10 Neighboring gene ribosomal protein L31 pseudogene 15

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

NHGRI GWAS Catalog

Description
Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations
NHGRI GWA 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

Function Evidence Code Pubs
calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
calmodulin-dependent cyclic-nucleotide phosphodiesterase activity TAS
Traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
cGMP catabolic process IEA
Inferred from Electronic Annotation
more info
 
regulation of smooth muscle cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
regulation of smooth muscle cell proliferation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
neuronal cell body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
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_005010.2
XP_011509625.1
XP_011509626.1
XP_011509627.1
XP_011509628.1
XP_016859783.1
XP_016859784.1
XP_016859785.1
XP_016859786.1
XP_016859787.1
XP_016859788.1
XP_016859789.1
XP_016859790.1
XP_024308727.1

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.

mRNA and Protein(s)

  1. NM_001003683.2NP_001003683.1  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)
    DA295167, DB512285, U40370
    Consensus CDS
    CCDS33344.1
    UniProtKB/Swiss-Prot
    P54750
    Related
    ENSP00000387037.1, ENST00000410103.1
    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
  2. NM_001258312.1NP_001245241.1  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)
    AC011291, AF110238, AK294239, DA295167
    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_001258313.1NP_001245242.1  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)
    AL110263, DB128091, DB512285
    Consensus CDS
    CCDS58741.1
    UniProtKB/Swiss-Prot
    P54750
    Related
    ENSP00000309269.9, ENST00000351439.9
    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_001258314.1NP_001245243.1  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)
    AK301720, AL536937, DB512285, DC396228
    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_001363871.2NP_001350800.1  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, ENST00000409365.5
    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_005019.5NP_005010.2  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)
    AC011291, BC022480, DA128734
    Consensus CDS
    CCDS2285.1
    UniProtKB/Swiss-Prot
    P54750
    Related
    ENSP00000410309.1, ENST00000435564.5
    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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    182136453..182523375 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017004298.1XP_016859787.1  calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform X6

    UniProtKB/Swiss-Prot
    P54750
    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. XM_017004297.1XP_016859786.1  calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform X6

    UniProtKB/Swiss-Prot
    P54750
    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
  3. XM_017004296.2XP_016859785.1  calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform X6

    UniProtKB/Swiss-Prot
    P54750
    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
  4. XM_017004295.2XP_016859784.1  calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform X6

    UniProtKB/Swiss-Prot
    P54750
    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_017004300.1XP_016859789.1  calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform X7

    UniProtKB/Swiss-Prot
    P54750
    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
  6. XM_017004301.1XP_016859790.1  calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform X7

    UniProtKB/Swiss-Prot
    P54750
    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. XM_017004299.2XP_016859788.1  calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform X7

    UniProtKB/Swiss-Prot
    P54750
    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. XM_024452959.1XP_024308727.1  calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform X7

    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. XM_011511326.2XP_011509628.1  calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform X5

    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
  10. XM_017004294.2XP_016859783.1  calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform X2

  11. XM_011511323.2XP_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
  12. XM_011511325.3XP_011509627.1  calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform X3

    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
  13. XM_011511324.3XP_011509626.1  calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform X4

    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_001738769.2 RNA Sequence

  2. XR_002959304.1 RNA Sequence

Support Center