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    PDE12 phosphodiesterase 12 [ Homo sapiens ]

    Gene ID: 201626, updated on 11-May-2012
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    Summary

    Official Symbol
    PDE12provided by HGNC
    Official Full Name
    phosphodiesterase 12provided by HGNC
    Primary source
    HGNC:25386
    See related
    Ensembl:ENSG00000174840; HPRD:11842; Vega:OTTHUMG00000158599
    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
    2'-PDE
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    Genomic context

    Location :
    3p14.3
    Sequence :
    Chromosome: 3; NC_000003.11 (57541981..57547768)
    See PDE12 in Epigenomics, MapViewer

    Chromosome 3 - NC_000003.11Genomic Context describing neighboring genes Neighboring gene dynein, axonemal, heavy chain 12 Neighboring gene ring finger protein 7 pseudogene 1 Neighboring gene ribosomal protein S8 pseudogene 5 Neighboring gene ADP-ribosylation factor 4 Neighboring gene family with sequence similarity 116, member A

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. Lee KA, et al. J Biol Chem, 2011 Dec 2. PMID 21987572.
    2. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    3. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    4. PDE12 removes mitochondrial RNA poly(A) tails and controls translation in human mitochondria. Rorbach J, et al. Nucleic Acids Res, 2011 Sep 1. PMID 21666256.
    5. Human 2'-phosphodiesterase localizes to the mitochondrial matrix with a putative function in mitochondrial RNA turnover. Poulsen JB, et al. Nucleic Acids Res, 2011 May. PMID 21245038.

    See all (13) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

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

    1. 2'-phosphodiesterase is a mitochondrial protein that specifically removes poly(A) extensions from mitochondrial mRNAs both in vitro and in mitochondria of cultured cells.
      Title: PDE12 removes mitochondrial RNA poly(A) tails and controls translation in human mitochondria.
    2. 2'-PDE locates to the mitochondrial matrix of human cells, and comprise an active 3'-5' exoribonuclease exhibiting a preference for oligo-adenosine RNA like canonical cytoplasmic deadenylases.
      Title: Human 2'-phosphodiesterase localizes to the mitochondrial matrix with a putative function in mitochondrial RNA turnover.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    4. crystals of phosphodiesterase 12 belonged to space group P3(1)21 or P3(2)21, with unit-cell parameters a = b = 111.3, c = 192.4 A, and diffracted to 2.5 A resolution.
      Title: Crystallization and preliminary X-ray crystallographic analysis of human phosphodiesterase 12.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:128397 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:128397 BioGRID:113885 UBL4A    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    2',5'-phosphodiesterase 12
    Names
    2',5'-phosphodiesterase 12
    2-PDE
    2'-phosphodiesterase
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    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_177966.5 → NP_808881.3  2',5'-phosphodiesterase 12

      Status: VALIDATED

      Source sequence(s)
      AC092418
      Consensus CDS
      CCDS33772.1
      UniProtKB/Swiss-Prot
      Q6L8Q7
      Related
      ENSP00000309142, OTTHUMP00000213138, ENST00000311180, OTTHUMT00000351440
      Conserved Domains (1) summary
      cl00490
      Location:299 – 608
      Blast Score: 589
      EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

    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_000003.11 Reference GRCh37.p5 Primary Assembly

      Range
      57541981..57547768
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000135.1 Alternate HuRef

      Range
      57639405..57645202
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC092418.3 (146587..152374) None
    genomic CH471055.1 EAW65342.1
      EAW65343.1
    mRNA AB115695.1 BAD20938.1
    mRNA AK001526.1 None
    mRNA AK074423.1 BAB85079.1
    mRNA AK300374.1 BAG62110.1
    mRNA AL831824.1 CAD38538.1
    mRNA BC034978.2 None
    mRNA BX647169.1 None
    other-genetic EU832450.1 ACE87622.1
    other-genetic EU832509.1 ACE87681.1
    other-genetic EU832590.1 ACE86992.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6L8Q7.2 GenPept UniProtKB/Swiss-Prot:Q6L8Q7
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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