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    PDE1C phosphodiesterase 1C, calmodulin-dependent 70kDa [ Homo sapiens ]

    Gene ID: 5137, updated on 19-May-2012

    Summary

    Official Symbol
    PDE1Cprovided by HGNC
    Official Full Name
    phosphodiesterase 1C, calmodulin-dependent 70kDaprovided by HGNC
    Primary source
    HGNC:8776
    See related
    Ensembl:ENSG00000154678; HPRD:04287; MIM:602987; Vega:OTTHUMG00000023836
    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
    Hcam3
    Summary
    Cyclic nucleotide phosphodiesterases (PDEs) catalyze hydrolysis of the cyclic nucleotides cAMP and cGMP to the corresponding nucleoside 5-prime-monophosphates. Mammalian PDEs have been classified into several families based on their biochemical properties. Members of the PDE1 family, such as PDE1C, are calmodulin (see MIM 114180)-dependent PDEs (CaM-PDEs) that are stimulated by a calcium-calmodulin complex (Repaske et al., 1992 [PubMed 1326532]).[supplied by OMIM, Oct 2009]

    Genomic context

    Location :
    7p14.3
    Sequence :
    Chromosome: 7; NC_000007.13 (31792632..32338383, complement)
    See PDE1C in Epigenomics, MapViewer

    Chromosome 7 - NC_000007.13Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 129 Neighboring gene protein phosphatase 1, regulatory subunit 17 Neighboring gene phosphoribosyl pyrophosphate synthetase 2 pseudogene Neighboring gene solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 5

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    HIV-1 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 Protein Interaction Database

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • Ca-dependent events, organism-specific biosystem (from REACTOME)
      Ca-dependent events, organism-specific biosystemCalcium, as the ion Ca2+, is essential in many biological processes. The majority of Ca2+ in many organisms is bound to phosphates which form skeletal structures and also buffer Ca2+ levels in extrac...
    • CaM pathway, organism-specific biosystem (from REACTOME)
      CaM pathway, organism-specific biosystemCalmodulin (CaM) is a small acidic protein that contains four EF-hand motifs, each of which can bind a calcium ion, therefore it can bind up to four calcium ions. The protein has two approximately sy...
    • Calcium signaling pathway, organism-specific biosystem (from KEGG)
      Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Calcium signaling pathway, conserved biosystem (from KEGG)
      Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Calmodulin induced events, organism-specific biosystem (from REACTOME)
      Calmodulin induced events, organism-specific biosystemOne important physiological role for Calmodulin is the regulation of adenylylcyclases. Four of the nine known adenylylcyclases are calcium sensitive, in particular type 8 (AC8).
    • Cam-PDE 1 activation, organism-specific biosystem (from REACTOME)
      Cam-PDE 1 activation, organism-specific biosystemHuman Ca2+/calmodulin-dependent phosphodiesterase PDE1 is activated by the binding of calmodulin in the presence of Ca(2+). PDE1 has three subtypes PDE1A, PDE1B and PDE1C and their role is to hydro...
    • DAG and IP3 signaling, organism-specific biosystem (from REACTOME)
      DAG and IP3 signaling, organism-specific biosystemThis pathway describes the generation of DAG and IP3 by the PLCgamma-mediated hydrolysis of PIP2 and the subsequent downstream signaling events.
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Downstream signal transduction, organism-specific biosystem (from REACTOME)
      Downstream signal transduction, organism-specific biosystemThe role of autophosphorylation sites on PDGF receptors are to provide docking sites for downstream signal transduction molecules which contain SH2 domains. The SH2 domain is a conserved motif of aro...
    • Downstream signaling of activated FGFR, organism-specific biosystem (from REACTOME)
      Downstream signaling of activated FGFR, organism-specific biosystemSignaling via FGFRs is mediated via direct recruitment of signaling proteins that bind to tyrosine auto-phosphorylation sites on the activated receptor and via closely linked docking proteins that be...
    • EGFR interacts with phospholipase C-gamma, organism-specific biosystem (from REACTOME)
      EGFR interacts with phospholipase C-gamma, organism-specific biosystemActivated epidermal growth factor receptors (EGFR) can stimulate phosphatidylinositol (PI) turnover. Activated EGFR can activate phospholipase C-gamma1 (PLC-gamma1, i.e. PLCG1) which hydrolyses phosp...
    • G Protein Signaling Pathways, organism-specific biosystem (from WikiPathways)
      G Protein Signaling Pathways, organism-specific biosystemG proteins, short for guanine nucleotide-binding proteins, are a family of proteins involved in second messenger cascades. G proteins are so called because they function as "molecular switches". They...
    • G-protein mediated events, organism-specific biosystem (from REACTOME)
      G-protein mediated events, organism-specific biosystemWhen dissociated Galpha-GTP and Gbeta-gamma can activate or inhibit different signalling cascades and effector proteins. The precise pathways depends on the identity of the alpha and beta/gamma subty...
    • Morphine addiction, organism-specific biosystem (from KEGG)
      Morphine addiction, organism-specific biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
    • Morphine addiction, conserved biosystem (from KEGG)
      Morphine addiction, conserved biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
    • NGF signalling via TRKA from the plasma membrane, organism-specific biosystem (from REACTOME)
      NGF signalling via TRKA from the plasma membrane, organism-specific biosystemTrk receptors signal from the plasma membrane and from intracellular membranes, particularly from early endosomes. Signalling from the plasma membrane is fast but transient; signalling from endosomes...
    • Olfactory transduction, organism-specific biosystem (from KEGG)
      Olfactory transduction, organism-specific biosystemWithin the compact cilia of the olfactory receptor neurons (ORNs) a cascade of enzymatic activity transduces the binding of an odorant molecule to a receptor into an electrical signal that can be tra...
    • Olfactory transduction, conserved biosystem (from KEGG)
      Olfactory transduction, conserved biosystemWithin the compact cilia of the olfactory receptor neurons (ORNs) a cascade of enzymatic activity transduces the binding of an odorant molecule to a receptor into an electrical signal that can be tra...
    • Opioid Signalling, organism-specific biosystem (from REACTOME)
      Opioid Signalling, organism-specific biosystemOpioids are chemical substances similar to opiates, the active substances found in opium (morphine, codeine etc.). Opioid action is mediated by the receptors for endogenous opioids; peptides such as...
    • PLC beta mediated events, organism-specific biosystem (from REACTOME)
      PLC beta mediated events, organism-specific biosystemThe phospholipase C (PLC) family of enzymes is both diverse and complex. The isoforms beta, gamma and delta (each have subtypes) make up the members of this family. PLC hydrolyzes phosphatidylinosito...
    • PLC-gamma1 signalling, organism-specific biosystem (from REACTOME)
      PLC-gamma1 signalling, organism-specific biosystemThe activation of phosphlipase C-gamma (PLC-gamma) and subsequent mobilization of calcium from intracellular stores are essential for neurotrophin secretion. PLC-gamma is activated through the phosph...
    • PLCG1 events in ERBB2 signaling, organism-specific biosystem (from REACTOME)
      PLCG1 events in ERBB2 signaling, organism-specific biosystemActivation of PLCG1 signaling is observed only in the presence of ERBB2:EGFR heterodimers, with PLCG1 binding to phosphorylated tyrosine Y992 and Y1173 in the C-tail of EGFR (Chattopadhyay et al. 199...
    • Phospholipase C-mediated cascade, organism-specific biosystem (from REACTOME)
      Phospholipase C-mediated cascade, organism-specific biosystemPhospholipase C-gamma (PLC-gamma) is a substrate of the fibroblast growth factor receptor (FGFR) and other receptors with tyrosine kinase activity. It is known that the src homology region 2 (SH2 dom...
    • Purine metabolism, organism-specific biosystem (from KEGG)
      Purine metabolism, organism-specific biosystem
      Purine metabolism
    • Purine metabolism, conserved biosystem (from KEGG)
      Purine metabolism, conserved biosystem
      Purine metabolism
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by EGFR, organism-specific biosystem (from REACTOME)
      Signaling by EGFR, organism-specific biosystemThe epidermal growth factor receptor (EGFR) is one member of the ERBB family of transmembrane glycoprotein tyrosine receptor kinases (RTK). Binding of EGFR to its ligands induces conformational chang...
    • Signaling by EGFR in Cancer, organism-specific biosystem (from REACTOME)
      Signaling by EGFR in Cancer, organism-specific biosystemThe pathway "Signaling by EGFR in Cancer" shows "Signaling by constitutively active EGFR" in parallel with "Signaling by EGFR". This allows users to compare signaling by constitutively active EGFR ca...
    • Signaling by ERBB2, organism-specific biosystem (from REACTOME)
      Signaling by ERBB2, organism-specific biosystemERBB2, also known as HER2 or NEU, is a receptor tyrosine kinase (RTK) belonging to the EGFR family. ERBB2 possesses an extracellular domain that does not bind any known ligand, contrary to other EGFR...
    • Signaling by FGFR, organism-specific biosystem (from REACTOME)
      Signaling by FGFR, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
    • Signaling by GPCR, organism-specific biosystem (from REACTOME)
      Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
    • Signaling by PDGF, organism-specific biosystem (from REACTOME)
      Signaling by PDGF, organism-specific biosystemPlatelet-derived Growth Factor (PDGF) is a potent stimulator of growth and motility of connective tissue cells such as fibroblasts and smooth muscle cells as well as other cells such as capillary end...
    • Signalling by NGF, organism-specific biosystem (from REACTOME)
      Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    calmodulin-dependent cyclic-nucleotide phosphodiesterase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    phosphoric diester hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    activation of phospholipase C activity TAS
    Traceable Author Statement
    more info
     
    epidermal growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    fibroblast growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    nerve growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C
    Names
    calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C
    hCam-3
    cam-PDE 1C
    Human 3',5' cyclic nucleotide phosphodiesterase (HSPDE1C1A)
    NP_001177985.1
    NP_001177986.1
    NP_001177987.1
    NP_001177988.1
    NP_005011.1

    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_001191056.1NP_001177985.1  calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 1

      Status: VALIDATED

      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)
      AC006377, DA030384, DA249465, U40371
      Consensus CDS
      CCDS5437.1
      UniProtKB/Swiss-Prot
      Q14123
      Related
      ENSP00000379485, OTTHUMP00000202648, ENST00000396182, OTTHUMT00000328459
      Conserved Domains (3) summary
      cd00077
      Location:227399
      Blast Score: 135
      HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
      pfam00233
      Location:227455
      Blast Score: 861
      PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
      pfam08499
      Location:82142
      Blast Score: 173
      PDEase_I_N; 3'5'-cyclic nucleotide phosphodiesterase N-terminal
    2. NM_001191057.1NP_001177986.1  calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 2

      Status: VALIDATED

      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, AK056170, DA030384, DA249465
      Consensus CDS
      CCDS55099.1
      UniProtKB/Swiss-Prot
      Q14123
      Related
      ENSP00000379494, OTTHUMP00000202647, ENST00000396191, OTTHUMT00000328458
      Conserved Domains (4) summary
      cd00077
      Location:227399
      Blast Score: 136
      HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
      pfam00233
      Location:227455
      Blast Score: 862
      PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
      pfam08499
      Location:82142
      Blast Score: 173
      PDEase_I_N; 3'5'-cyclic nucleotide phosphodiesterase N-terminal
      pfam13985
      Location:574634
      Blast Score: 88
      YbgS; YbgS-like protein
    3. NM_001191058.1NP_001177987.1  calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) encodes the longest isoform (3).
      Source sequence(s)
      AC005589, AC006377, AC007093, AK056170, AK091734, DA025688
      Consensus CDS
      CCDS55100.1
      UniProtKB/TrEMBL
      E9PE92
      UniProtKB/Swiss-Prot
      Q14123
      UniProtKB/TrEMBL
      Q8NB10
      Related
      ENSP00000379496, OTTHUMP00000123469, ENST00000396193, OTTHUMT00000215075
      Conserved Domains (4) summary
      cd00077
      Location:287459
      Blast Score: 140
      HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
      pfam00233
      Location:287515
      Blast Score: 869
      PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
      pfam08499
      Location:142202
      Blast Score: 174
      PDEase_I_N; 3'5'-cyclic nucleotide phosphodiesterase N-terminal
      pfam13985
      Location:634694
      Blast Score: 87
      YbgS; YbgS-like protein
    4. NM_001191059.1NP_001177988.1  calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 2

      Status: VALIDATED

      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, AK056170, AK091734, AK094180
      Consensus CDS
      CCDS55099.1
      UniProtKB/TrEMBL
      B3KSS6
      UniProtKB/Swiss-Prot
      Q14123
      UniProtKB/TrEMBL
      Q8NB10
      Related
      ENSP00000318105, OTTHUMP00000123470, ENST00000321453, OTTHUMT00000215076
      Conserved Domains (4) summary
      cd00077
      Location:227399
      Blast Score: 136
      HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
      pfam00233
      Location:227455
      Blast Score: 862
      PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
      pfam08499
      Location:82142
      Blast Score: 173
      PDEase_I_N; 3'5'-cyclic nucleotide phosphodiesterase N-terminal
      pfam13985
      Location:574634
      Blast Score: 88
      YbgS; YbgS-like protein
    5. NM_005020.2NP_005011.1  calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 1

      Status: VALIDATED

      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)
      AC006377, DA221214, U40371
      Consensus CDS
      CCDS5437.1
      UniProtKB/Swiss-Prot
      Q14123
      Related
      ENSP00000379487, OTTHUMP00000123471, ENST00000396184, OTTHUMT00000215077
      Conserved Domains (3) summary
      cd00077
      Location:227399
      Blast Score: 135
      HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
      pfam00233
      Location:227455
      Blast Score: 861
      PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
      pfam08499
      Location:82142
      Blast Score: 173
      PDEase_I_N; 3'5'-cyclic nucleotide phosphodiesterase N-terminal

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000007.13 Reference GRCh37.p5 Primary Assembly

      Range
      31792632..32338383, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000139.1 Alternate HuRef

      Range
      31673350..32219567, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CRA_TCAGchr7v2

    Genomic

    1. AC_000068.1 Alternate CRA_TCAGchr7v2

      Range
      31840922..32386609, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC004931.1 AAC29142.1
    genomic AC005589.1 None
    genomic AC006377.3 AAS07516.1
    genomic AC007033.3 None
    genomic AC007093.3 (25962..26981) None
    genomic AC018637.3 None
    genomic CH471073.1 EAW93984.1
      EAW93985.1
      EAW93986.1
      EAW93987.1
    mRNA AK056170.1 BAG51638.1
    mRNA AK091734.1 BAC03734.1
    mRNA AK094180.1 BAG52838.1
    mRNA BC022479.1 AAH22479.1
    mRNA BC022525.1 AAH22525.1
    mRNA DA025688.1 None
    mRNA DA030384.1 None
    mRNA DA221214.1 None
    mRNA DA249465.1 None
    mRNA U40371.1 AAC50437.1
    mRNA U40372.1 AAA96961.1
    other-genetic DQ893643.2 ABM84569.1
    other-genetic EU176511.1 ABW03312.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14123.1 GenPept UniProtKB/Swiss-Prot:Q14123
    Q75MP2 GenPept UniProtKB/TrEMBL:Q75MP2
    Q75MW3 GenPept UniProtKB/TrEMBL:Q75MW3
    Q8NB10 GenPept UniProtKB/TrEMBL:Q8NB10
    Q8TAE4 GenPept UniProtKB/TrEMBL:Q8TAE4

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