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    PDE1C phosphodiesterase 1C [ Homo sapiens (human) ]

    Gene ID: 5137, updated on 3-Nov-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PDE1C in Genome Data Viewer
    Location:
    7p14.3
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (31616777..32428224, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (31754475..32567499, complement)
    RS_2024_09 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 NANOG hESC enhancer GRCh37_chr7:31411185-31411804 Neighboring gene uncharacterized LOC105375224 Neighboring gene neuronal differentiation 6 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:31505615-31506326 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:31506327-31507037 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:31517206-31518405 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25823 Neighboring gene ITPR interacting domain containing 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:31690801-31691359 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:31749869-31750495 Neighboring gene protein phosphatase 1 regulatory subunit 17 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:31807284-31808218 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18077 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25824 Neighboring gene NANOG hESC enhancer GRCh37_chr7:31865149-31865650 Neighboring gene Sharpr-MPRA regulatory region 14950 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:31977838-31979037 Neighboring gene sorting nexin 2 pseudogene 2 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:32202217-32203416 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:32244753-32245952 Neighboring gene MPRA-validated peak6468 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:32467257-32468070 Neighboring gene NANOG hESC enhancer GRCh37_chr7:32486745-32487256 Neighboring gene phosphoribosyl pyrophosphate synthetase 2 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:32503825-32504417 Neighboring gene solute carrier family 25 member 5 pseudogene 5

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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
    not available

    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

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cAMP-mediated signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     

    General protein information

    Preferred Names
    dual specificity 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)
    calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C
    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
    XP_054214305.1
    XP_054214306.1
    XP_054214307.1
    XP_054214308.1
    XP_054214309.1
    XP_054214310.1
    XP_054214311.1
    XP_054214312.1
    XP_054214313.1
    XP_054214314.1

    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/TrEMBL
      Q8TAE4
      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
      B3KPC6, E9PE92, Q14123, Q14124, Q8NB10
      UniProtKB/TrEMBL
      B3KSS6
      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/TrEMBL
      A0A0A0MS69, B3KSS6
      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
      B3KPC6, E9PE92, Q14123, Q14124, Q8NB10
      UniProtKB/TrEMBL
      B3KSS6
      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
      B3KPC6, E9PE92, Q14123, Q14124, Q8NB10
      UniProtKB/TrEMBL
      B3KSS6
      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/TrEMBL
      Q8TAE4
      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/TrEMBL
      Q8TAE4
      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/TrEMBL
      Q75MP2
      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/TrEMBL
      Q8TAE4
      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: GCF_000001405.40-RS_2024_08

    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  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X5

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

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

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

      UniProtKB/TrEMBL
      B3KSS6
    5. XM_017012265.1XP_016867754.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X2

      UniProtKB/TrEMBL
      B3KSS6
    6. XM_047420440.1XP_047276396.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X4

      UniProtKB/Swiss-Prot
      B3KPC6, E9PE92, Q14123, Q14124, Q8NB10
    7. XM_017012267.2XP_016867756.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X4

      UniProtKB/Swiss-Prot
      B3KPC6, E9PE92, Q14123, Q14124, Q8NB10
      UniProtKB/TrEMBL
      B3KSS6
      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  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X7

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

      UniProtKB/TrEMBL
      Q75MP2
    10. XM_047420444.1XP_047276400.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X6

    11. XM_047420446.1XP_047276402.1  dual specificity 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
      31754475..32567499 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358337.1XP_054214312.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X5

    2. XM_054358336.1XP_054214311.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X5

    3. XM_054358335.1XP_054214310.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X5

    4. XM_054358330.1XP_054214305.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X1

    5. XM_054358331.1XP_054214306.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X2

    6. XM_054358333.1XP_054214308.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X4

      UniProtKB/Swiss-Prot
      B3KPC6, E9PE92, Q14123, Q14124, Q8NB10
    7. XM_054358334.1XP_054214309.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X4

      UniProtKB/Swiss-Prot
      B3KPC6, E9PE92, Q14123, Q14124, Q8NB10
    8. XM_054358332.1XP_054214307.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X3

    9. XM_054358338.1XP_054214313.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X6

    10. XM_054358339.1XP_054214314.1  dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform X8

    RNA

    1. XR_008487624.1 RNA Sequence

    2. XR_008487625.1 RNA Sequence

    3. XR_008487629.1 RNA Sequence

    4. XR_008487627.1 RNA Sequence

    5. XR_008487628.1 RNA Sequence

    6. XR_008487626.1 RNA Sequence