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PDE1C phosphodiesterase 1C [ Homo sapiens (human) ]

Gene ID: 5137, updated on 6-Nov-2022

Summary

Official Symbol
PDE1Cprovided by HGNC
Official Full Name
phosphodiesterase 1Cprovided by HGNC
Primary source
HGNC:HGNC:8776
See related
Ensembl:ENSG00000154678 MIM:602987; AllianceGenome:HGNC:8776
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
Hcam3; DFNA74; hCam-3; cam-PDE 1C
Summary
This gene encodes an enzyme that belongs to the 3'5'-cyclic nucleotide phosphodiesterase family. Members of this family catalyze hydrolysis of the cyclic nucleotides, cyclic adenosine monophosphate and cyclic guanosine monophosphate, to the corresponding nucleoside 5'-monophosphates. The enzyme encoded by this gene regulates proliferation and migration of vascular smooth muscle cells, and neointimal hyperplasia. This enzyme also plays a role in pathological vascular remodeling by regulating the stability of growth factor receptors, such as PDGF-receptor-beta. [provided by RefSeq, Jul 2016]
Expression
Biased expression in heart (RPKM 9.1), brain (RPKM 4.0) and 12 other tissues See more
Orthologs
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Genomic context

See PDE1C in Genome Data Viewer
Location:
7p14.3
Exon count:
35
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (31616777..32428224, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (31889483..32567499, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (31790793..32467836, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs297 Neighboring gene uncharacterized LOC105375224 Neighboring gene ITPR interacting domain containing 1 Neighboring gene protein phosphatase 1 regulatory subunit 17 Neighboring gene Sharpr-MPRA regulatory region 14950 Neighboring gene sorting nexin 2 pseudogene 2 Neighboring gene phosphoribosyl pyrophosphate synthetase 2 pseudogene Neighboring gene solute carrier family 25 member 5 pseudogene 5

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

Associated conditions

Description Tests
Hearing loss, autosomal dominant 74
MedGen: C4748334 OMIM: 618140 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-wide association study link novel loci to endometriosis.
EBI GWAS Catalog
Genome-wide association study of antiphospholipid antibodies.
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

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
 
located_in lysosome ISS
Inferred from Sequence or Structural Similarity
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 1C; calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C
Names
3',5'-cyclic-AMP phosphodiesterase
3',5'-cyclic-GMP phosphodiesterase
Human 3',5' cyclic nucleotide phosphodiesterase (HSPDE1C1A)
dual specificity Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C
phosphodiesterase 1C, calmodulin-dependent 70kDa
NP_001177985.1
NP_001177986.1
NP_001177987.2
NP_001177988.1
NP_001308984.1
NP_001308985.1
NP_001308986.1
NP_001308987.1
NP_001308988.1
NP_005011.1
XP_016867753.1
XP_016867754.1
XP_016867755.1
XP_016867756.1
XP_047276396.1
XP_047276397.1
XP_047276398.1
XP_047276399.1
XP_047276400.1
XP_047276401.1
XP_047276402.1

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.

Genomic

  1. NG_051183.2 RefSeqGene

    Range
    362817..682045
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001191056.3NP_001177985.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 1

    See identical proteins and their annotated locations for NP_001177985.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' and 3' UTR and has multiple coding region differences, compared to variant 3. These differences result in an isoform (1) with distinct N- and C-termini, compared to isoform 3. Variants 1 and 4 encode the same protein. Isoform 1 is also known as HCam-3B.
    Source sequence(s)
    AC004931, AC006377, AK056170, AK125029, BM668260, U40371
    Consensus CDS
    CCDS5437.1
    UniProtKB/Swiss-Prot
    Q14123
    Related
    ENSP00000379485.2, ENST00000396182.6
    Conserved Domains (2) summary
    pfam00233
    Location:227445
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam08499
    Location:86142
    PDEase_I_N; 3'5'-cyclic nucleotide phosphodiesterase N-terminal
  2. NM_001191057.4NP_001177986.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 2

    See identical proteins and their annotated locations for NP_001177986.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and has multiple coding region differences, compared to variant 3. These differences result in an isoform (2) with a distinct N-terminus, compared to isoform 3. Variants 2 and 5 encode the same protein. Isoform 2 is also known as HCam-3A.
    Source sequence(s)
    AC006377, AC007093, AI168057, AI301181, AK056170, CB135276, HY125708
    Consensus CDS
    CCDS55099.1
    UniProtKB/Swiss-Prot
    Q14123, Q8NB10
    Related
    ENSP00000379494.1, ENST00000396191.6
    Conserved Domains (2) summary
    pfam00233
    Location:227455
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam08499
    Location:86142
    PDEase_I_N; 3'5'-cyclic nucleotide phosphodiesterase N-terminal
  3. NM_001191058.4NP_001177987.2  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) encodes the longest isoform (3). Variants 3 and 10 encode isoforms that are the same length, but have distinct protein sequences.
    Source sequence(s)
    AC006377, AC007093, AC018637, AI168057, AI301181, AK056170, AK091734, CB135276, HY125708
    Consensus CDS
    CCDS55100.1
    UniProtKB/Swiss-Prot
    Q14123
    UniProtKB/TrEMBL
    A0A0A0MS69
    Related
    ENSP00000379496.1, ENST00000396193.5
    Conserved Domains (2) summary
    pfam00233
    Location:287515
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam08499
    Location:142202
    PDEase_I_N; 3'5'-cyclic nucleotide phosphodiesterase N-terminal
  4. NM_001191059.4NP_001177988.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 2

    See identical proteins and their annotated locations for NP_001177988.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and has multiple coding region differences, compared to variant 3. These differences result in an isoform (2) with a distinct N-terminus, compared to isoform 3. Variants 2 and 5 encode the same protein. Isoform 2 is also known as HCam-3A.
    Source sequence(s)
    AC006377, AC007093, AI168057, AI301181, AK056170, CB135276, DA023468, HY125708
    Consensus CDS
    CCDS55099.1
    UniProtKB/Swiss-Prot
    Q14123, Q8NB10
    Related
    ENSP00000318105.7, ENST00000321453.12
    Conserved Domains (2) summary
    pfam00233
    Location:227455
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam08499
    Location:86142
    PDEase_I_N; 3'5'-cyclic nucleotide phosphodiesterase N-terminal
  5. NM_001322055.2NP_001308984.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC004931, AC006377, AC007093, AI168057, AI301181, AK056170, CB135276, DA174241, DA231237, HY125708
    Consensus CDS
    CCDS55099.1
    UniProtKB/Swiss-Prot
    Q14123, Q8NB10
    Conserved Domains (2) summary
    pfam00233
    Location:227455
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam08499
    Location:86142
    PDEase_I_N; 3'5'-cyclic nucleotide phosphodiesterase N-terminal
  6. NM_001322056.2NP_001308985.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC004931, AC006377
    Consensus CDS
    CCDS5437.1
    UniProtKB/Swiss-Prot
    Q14123
    Conserved Domains (2) summary
    pfam00233
    Location:227445
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam08499
    Location:86142
    PDEase_I_N; 3'5'-cyclic nucleotide phosphodiesterase N-terminal
  7. NM_001322057.2NP_001308986.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC004931, AC006377
    Consensus CDS
    CCDS5437.1
    UniProtKB/Swiss-Prot
    Q14123
    Conserved Domains (2) summary
    pfam00233
    Location:227445
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam08499
    Location:86142
    PDEase_I_N; 3'5'-cyclic nucleotide phosphodiesterase N-terminal
  8. NM_001322058.2NP_001308987.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC005589, AC006377, AC018637, KF458425
    UniProtKB/Swiss-Prot
    Q14123
    Conserved Domains (2) summary
    pfam00233
    Location:287505
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam08499
    Location:146202
    PDEase_I_N; 3'5'-cyclic nucleotide phosphodiesterase N-terminal
  9. NM_001322059.2NP_001308988.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: Variants 3 and 10 encode isoforms that are the same length, but have distinct protein sequences.
    Source sequence(s)
    AC005589, AC006377, AC018637, KF458425
    UniProtKB/Swiss-Prot
    Q14123
    Conserved Domains (2) summary
    pfam00233
    Location:362590
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam08499
    Location:221277
    PDEase_I_N; 3'5'-cyclic nucleotide phosphodiesterase N-terminal
  10. NM_005020.5NP_005011.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 1

    See identical proteins and their annotated locations for NP_005011.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' and 3' UTR and has multiple coding region differences, compared to variant 3. These differences result in an isoform (1) with distinct N- and C-termini, compared to isoform 3. Variants 1 and 4 encode the same protein. Isoform 1 is also known as HCam-3B.
    Source sequence(s)
    AC004931, AC006377
    Consensus CDS
    CCDS5437.1
    UniProtKB/Swiss-Prot
    Q14123
    Related
    ENSP00000379487.3, ENST00000396184.7
    Conserved Domains (2) summary
    pfam00233
    Location:227445
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam08499
    Location:86142
    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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    31616777..32428224 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047420443.1XP_047276399.1  calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X5

  2. XM_047420442.1XP_047276398.1  calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X5

  3. XM_047420441.1XP_047276397.1  calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X5

  4. XM_017012264.1XP_016867753.1  calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X1

  5. XM_017012265.1XP_016867754.1  calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X2

  6. XM_047420440.1XP_047276396.1  calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X4

    UniProtKB/Swiss-Prot
    Q8NB10
  7. XM_017012267.2XP_016867756.1  calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X4

    UniProtKB/Swiss-Prot
    Q14123, Q8NB10
    Conserved Domains (2) summary
    pfam00233
    Location:227455
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam08499
    Location:86142
    PDEase_I_N; 3'5'-cyclic nucleotide phosphodiesterase N-terminal
  8. XM_047420445.1XP_047276401.1  calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X7

    UniProtKB/TrEMBL
    A0A024RA78
  9. XM_017012266.2XP_016867755.1  calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X3

  10. XM_047420444.1XP_047276400.1  calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X6

  11. XM_047420446.1XP_047276402.1  calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X8

RNA

  1. XR_001744802.1 RNA Sequence

  2. XR_001744803.1 RNA Sequence

  3. XR_007060044.1 RNA Sequence

  4. XR_007060042.1 RNA Sequence

  5. XR_007060043.1 RNA Sequence

  6. XR_007060041.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    31889483..32567499 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)