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PNPT1 Gene

protein-coding   GIFtS: 60
GCID: GC02M055861

Polyribonucleotide Nucleotidyltransferase 1

(Previous names: deafness, autosomal recessive 70)
(Previous symbol: DFNB70)
  See PNPT1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Polyribonucleotide Nucleotidyltransferase 11 2     COXPD132 5
DFNB701 2 5     OLD352 5
Polynucleotide Phosphorylase 12 3     3'-5' RNA Exonuclease1
Polynucleotide Phosphorylase-Like Protein2 3     Deafness, Autosomal Recessive 701
3'-5' RNA Exonuclease OLD352 3     Polynucleotide Phosphorylase1
PNPASE2 3     old-352
PNPase 12 3     Polyribonucleotide Nucleotidyltransferase 1, Mitochondrial2
PNPase Old-352 3     EC 2.7.78
EC 2.7.7.83 8     

External Ids:    HGNC: 231661   Entrez Gene: 871782   Ensembl: ENSG000001380357   OMIM: 6103165   UniProtKB: Q8TCS83   

Export aliases for PNPT1 gene to outside databases

Previous GC identifers: GC02M055820 GC02M055837 GC02M055836 GC02M055774 GC02M055715 GC02M055596


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PNPT1 Gene:
The protein encoded by this gene belongs to the evolutionary conserved polynucleotide phosphorylase family
comprised of phosphate dependent 3'-to-5' exoribonucleases implicated in RNA processing and degradation. This
enzyme is predominantly localized in the mitochondrial intermembrane space and is involved in import of RNA to
mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency-13
and autosomal recessive nonsyndromic deafness-70. Related pseudogenes are found on chromosomes 3 and 7. (provided
by RefSeq, Dec 2012)

GeneCards Summary for PNPT1 Gene:
PNPT1 (polyribonucleotide nucleotidyltransferase 1) is a protein-coding gene. Diseases associated with PNPT1 include combined oxidative phosphorylation deficiency 13, and deafness, autosomal recessive 70. GO annotations related to this gene include 3'-5'-exoribonuclease activity and poly(U) RNA binding.

UniProtKB/Swiss-Prot: PNPT1_HUMAN, Q8TCS8
Function: RNA-binding protein implicated in numerous RNA metabolic processes. Catalyzes the phosphorolysis of
single-stranded polyribonucleotides processively in the 3'-to-5' direction. Mitochondrial intermembrane factor
with RNA-processing exoribonulease activity. Component of the mitochondrial degradosome (mtEXO) complex, that
degrades 3' overhang double-stranded RNA with a 3'-to-5' directionality in an ATP-dependent manner. Required for
correct processing and polyadenylation of mitochondrial mRNAs. Plays a role as a cytoplasmic RNA import factor
that mediates the translocation of small RNA components, like the 5S RNA, the RNA subunit of ribonuclease P and
the mitochondrial RNA-processing (MRP) RNA, into the mitochondrial matrix. Plays a role in mitochondrial
morphogenesis and respiration; regulates the expression of the electron transport chain (ETC) components at the
mRNA and protein levels. In the cytoplasm, shows a 3'-to-5' exoribonuclease mediating mRNA degradation activity;
degrades c-myc mRNA upon treatment with IFNB1/IFN-beta, resulting in a growth arrest in melanoma cells. Regulates
the stability of specific mature miRNAs in melanoma cells; specifically and selectively degrades miR-221,
preferentially. Plays also a role in RNA cell surveillance by cleaning up oxidized RNAs. Binds to the RNA subunit
of ribonuclease P, MRP RNA and miR-221 microRNA




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PNPT1 gene promoter:
         RFX1   LHX3b/Lhx3b   GATA-1   Evi-1   AREB6   POU2F1   FOXJ2 (long isoform)   POU2F1a   LHX3a/Lhx3a   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPNPT1 promoter sequence
   Search Chromatin IP Primers for PNPT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PNPT1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p15   Ensembl cytogenetic band:  2p16.1   HGNC cytogenetic band: 2p15

PNPT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PNPT1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M055861:  view genomic region     (about GC identifiers)

Start:
55,861,198 bp from pter      End:
55,921,045 bp from pter
Size:
59,848 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PNPT1_HUMAN, Q8TCS8 (See protein sequence)
Recommended Name: Polyribonucleotide nucleotidyltransferase 1, mitochondrial precursor  
Size: 783 amino acids; 85951 Da
Subunit: Homotrimer; in free form. Homooligomer. Component of the mitochondrial degradosome (mtEXO) complex which
is a heteropentamer containing 2 copies of SUPV3L1 and 3 copies of PNPT1. Interacts with TCL1A; the interaction
has no effect on PNPT1 exonuclease activity
1 PDB 3D structure from and Proteopedia for PNPT1:
3U1K (3D)    
Secondary accessions: Q53SU0 Q68CN1 Q7Z7D1 Q8IWX1 Q96T05 Q9BRU3 Q9BVX0

Explore the universe of human proteins at neXtProt for PNPT1: NX_Q8TCS8

Explore proteomics data for PNPT1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys591
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for PNPT1 (Q8TCS8)
     IDRSIRP  SNGSSSMA  RQKAAAAG  LESNGSSS 


    See PNPT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_149100.2  
    ENSEMBL proteins: 
     ENSP00000400646   ENSP00000393953   ENSP00000260604   ENSP00000411057   ENSP00000411994  

    PNPT1 Human Recombinant Protein Products:

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    Novus Biologicals PNPT1 Protein
    Novus Biologicals PNPT1 Lysates
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    Cloud-Clone Corp. Proteins for PNPT1

     
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    antibodies-online proteins for PNPT1 (4 products) 

     
    antibodies-online peptides for PNPT1

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    PNPT1 Assay Products:

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    Search eBioscience for ELISAs for PNPT1 
    antibodies-online kits for PNPT1 (2 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 11):
     IPR015847 ExoRNase_PH_dom2
     IPR003029 Rbsml_prot_S1_RNA-bd_dom
     IPR004087 KH_dom
     IPR001247 ExoRNase_PH_dom1
     IPR020568 Ribosomal_S5_D2-typ_fold

    Graphical View of Domain Structure for InterPro Entry Q8TCS8

    ProtoNet protein and cluster: Q8TCS8

    4 Blocks protein domains:
    IPB001547 Glycoside hydrolase
    IPB003029 RNA binding S1
    IPB004087 KH domain
    IPB004088 KH


    UniProtKB/Swiss-Prot: PNPT1_HUMAN, Q8TCS8
    Similarity: Belongs to the polyribonucleotide nucleotidyltransferase family
    Similarity: Contains 1 KH domain
    Similarity: Contains 1 S1 motif domain


    Find genes that share domains with PNPT1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PNPT1_HUMAN, Q8TCS8
    Function: RNA-binding protein implicated in numerous RNA metabolic processes. Catalyzes the phosphorolysis of
    single-stranded polyribonucleotides processively in the 3'-to-5' direction. Mitochondrial intermembrane factor
    with RNA-processing exoribonulease activity. Component of the mitochondrial degradosome (mtEXO) complex, that
    degrades 3' overhang double-stranded RNA with a 3'-to-5' directionality in an ATP-dependent manner. Required for
    correct processing and polyadenylation of mitochondrial mRNAs. Plays a role as a cytoplasmic RNA import factor
    that mediates the translocation of small RNA components, like the 5S RNA, the RNA subunit of ribonuclease P and
    the mitochondrial RNA-processing (MRP) RNA, into the mitochondrial matrix. Plays a role in mitochondrial
    morphogenesis and respiration; regulates the expression of the electron transport chain (ETC) components at the
    mRNA and protein levels. In the cytoplasm, shows a 3'-to-5' exoribonuclease mediating mRNA degradation activity;
    degrades c-myc mRNA upon treatment with IFNB1/IFN-beta, resulting in a growth arrest in melanoma cells. Regulates
    the stability of specific mature miRNAs in melanoma cells; specifically and selectively degrades miR-221,
    preferentially. Plays also a role in RNA cell surveillance by cleaning up oxidized RNAs. Binds to the RNA subunit
    of ribonuclease P, MRP RNA and miR-221 microRNA
    Catalytic activity: RNA(n+1) + phosphate = RNA(n) + a nucleoside diphosphate
    Induction: Up-regulated in cells upon senescence and terminal differentiation. Up-regulated after treatment with
    IFNB1/IFN-beta

         Enzyme Numbers (IUBMB): EC 2.7.7.81 2 EC 2.7.72

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00001753'-5'-exoribonuclease activity IDA19509288
    GO:0003723RNA binding ----
    GO:0004654polyribonucleotide nucleotidyltransferase activity IDA18083836
    GO:0005515protein binding IPI16934922
    GO:0008266poly(U) RNA binding IDA18083836
         
    Find genes that share ontologies with PNPT1           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Pnpt1):
     cellular  mortality/aging  normal 

    Find genes that share phenotypes with PNPT1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Pnpt1tm1.1Teit for PNPT1

       genOway: Develop your customized and physiologically relevant rodent model for PNPT1

    miRNA
    Products:
        
    miRTarBase miRNAs that target PNPT1:
    hsa-mir-155-5p (MIRT020848)

    Block miRNA regulation of human, mouse, rat PNPT1 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate PNPT1:
    hsa-miR-548g hsa-miR-656 hsa-miR-374b hsa-miR-205* hsa-miR-183 hsa-miR-374a
    SwitchGear 3'UTR luciferase reporter plasmidPNPT1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PNPT1
    Predesigned siRNA for gene silencing in human, mouse, rat PNPT1

    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PNPT1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PNPT1_HUMAN, Q8TCS8: Cytoplasm. Mitochondrion. Mitochondrion intermembrane space; Peripheral membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    plasma membrane4
    chloroplast3
    cytosol3
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IDA--
    GO:0005758mitochondrial intermembrane space IDA16966381
    GO:0005886plasma membrane ----
    GO:0016020membrane IEA--

    Find genes that share ontologies with PNPT1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PNPT1 About    
    See pathways by source

    SuperPathContained pathways About
    1Purine metabolism (KEGG)
    Purine metabolism0.38
    Pyrimidine metabolism0.38
    2Deadenylation-dependent mRNA decay
    RNA degradation0.48


    Find genes that share SuperPaths with PNPT1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    3 Kegg Pathways  (Kegg details for PNPT1):
        Purine metabolism
    Pyrimidine metabolism
    RNA degradation

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PNPT1
    Interactions:

        GeneGlobe Interaction Network for PNPT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PNPT1 (Q8TCS82, 3 ENSP000003939534) via UniProtKB, MINT, STRING, and/or I2D (see all 382)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    MCCP235083, ENSP000003862274I2D: score=1 STRING: ENSP00000386227
    SUPV3L1Q8IYB82, ENSP000003526784MINT-8079030 STRING: ENSP00000352678
    MRPL17Q9NRX22, ENSP000002889374MINT-8079030 STRING: ENSP00000288937
    NME4O007462, ENSP000002194794MINT-8079030 STRING: ENSP00000219479
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 25):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000957mitochondrial RNA catabolic process IDA18501193
    GO:0000958mitochondrial mRNA catabolic process IDA--
    GO:0000962positive regulation of mitochondrial RNA catabolic process IDA19509288
    GO:0000964mitochondrial RNA 5'-end processing IMP18083837
    GO:0000965mitochondrial RNA 3'-end processing IMP18083837

    Find genes that share ontologies with PNPT1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PNPT1

    6 HMDB Compounds for PNPT1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    CDPCDP (see all 3)63-38-7--
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    Uridine 5'-diphosphate5'-UDP (see all 9)58-98-0--
    dTDPDeoxy-tdp (see all 5)491-97-4--

    9 Novoseek inferred chemical compound relationships for PNPT1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    polynucleotide 93.1 27 10222010 (1), 15019613 (1), 20445227 (1), 9383156 (1) (see all 25)
    purine nucleoside 85.6 13 8230137 (1), 8069484 (1), 7699692 (1), 2114620 (1) (see all 13)
    pyrimidine nucleoside 62.8 2 7880618 (1), 2142396 (1)
    inosine 57.3 1 8230137 (1)
    deoxycytidine 45 1 12489570 (1)
    adenylate 44 14 9211914 (2), 9383156 (1), 15210334 (1), 9695924 (1) (see all 5)
    atp 35.1 1 19509288 (1)
    purine 31.8 3 8230137 (1), 1909177 (1), 12489570 (1)
    5fluorouracil 5.42 3 7880618 (1)



    Find genes that share compounds with PNPT1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PNPT1 gene: 
    NM_033109.4  

    Unigene Cluster for PNPT1:

    Polyribonucleotide nucleotidyltransferase 1
    Hs.388733  [show with all ESTs]
    Unigene Representative Sequence: NM_033109
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000447944(uc002rzf.2) ENST00000415374 ENST00000260604 ENST00000481066
    ENST00000415489 ENST00000429805
    miRNA
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    6 qRT-PCR Assays for microRNAs that regulate PNPT1:
    hsa-miR-548g hsa-miR-656 hsa-miR-374b hsa-miR-205* hsa-miR-183 hsa-miR-374a
    SwitchGear 3'UTR luciferase reporter plasmidPNPT1 3' UTR sequence
    Inhib. RNA
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    Primer
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      QuantiFast Probe-based Assays in human, mouse, rat PNPT1

    Additional mRNA sequence: 

    AJ458465.1 AK307589.1 AY027528.1 AY290863.1 BC000862.2 BC005986.1 BC009057.1 BC021170.1 
    BC053660.1 CR749867.1 

    12 DOTS entries:

    DT.100059222  DT.95164082  DT.102832251  DT.100702358  DT.92431772  DT.95164080  DT.99970779  DT.120954876 
    DT.120954894  DT.436092  DT.95164078  DT.92030760 

    Selected AceView cDNA sequences (see all 177):

    BE897841 AA490814 BQ029360 BM803192 BU838939 CB151524 BQ009444 BC009057 
    CB851046 BQ955250 AJ458465 AI823473 BQ018568 AW117458 AA564577 BC000862 
    CA426544 BF447382 AI148042 CR625599 BU509221 CB122089 CA391947 AL044605 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for PNPT1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a ·
    SP1:                                                                                                                                                        -   
    SP2:                                                                                -     -                                                                     
    SP3:              -     -                                                                                                                                       
    SP4:                                                                                                                                                            

    ExUns: 23b ^ 24 ^ 25 ^ 26 ^ 27 ^ 28
    SP1:                                    
    SP2:                                    
    SP3:                                    
    SP4:                                    


    ECgene alternative splicing isoforms for PNPT1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    PNPT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTAGGCAATG
    PNPT1 Expression
    About this image


    PNPT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    PNPT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PNPT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.388733
        Custom PCR Arrays for PNPT1
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PNPT1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pnpt11 , 5 polyribonucleotide nucleotidyltransferase 11, 5 87.13(n)1
    91.05(a)1
      11 (16.46 cM)5
    717011  NM_027869.11  NP_082145.11 
     291307445 
    chicken
    (Gallus gallus)
    Aves PNPT11 polyribonucleotide nucleotidyltransferase 1 77.62(n)
    80.29(a)
      421206  XM_419282.4  XP_419282.4 
    lizard
    (Anolis carolinensis)
    Reptilia PNPT16
    polyribonucleotide nucleotidyltransferase 1
    78(a)
    1 ↔ 1
    1(256066436-256103554)
    African clawed frog
    (Xenopus laevis)
    Amphibia BQ724879.12   -- 75.99(n)    BQ724879.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pnpt11 polynucleotide phosphorylase 64.2(n)
    71.33(a)
      100750260  NM_001251832.1  NP_001238761.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG113371 CG11337 55.22(n)
    57.97(a)
      43710  NM_001104520.3  NP_001097990.2 
    worm
    (Caenorhabditis elegans)
    Secernentea BE0003N10.11 BE0003N10.1 49.31(n)
    43.51(a)
      175269  NM_064923.3  NP_497324.3 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G145801 AT5G14580 50.75(n)
    41.65(a)
      831309  NM_121462.3  NP_196962.1 


    ENSEMBL Gene Tree for PNPT1 (if available)
    TreeFam Gene Tree for PNPT1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PNPT1 gene

    Find genes that share paralogs with PNPT1           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for PNPT1
    PGOHUM00000237522 PGOHUM00000232977


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PNPT1 (see all 1456)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0692494
    Deafness, autosomal recessive, 70 (DFNB70)4--see VAR_0692492 E G mis40--------
    VAR_0692484
    Combined oxidative phosphorylation deficiency 13 (COXPD13)4--see VAR_0692482 Q R mis40--------
    rs789073191,2
    C--55605936(+) AAAAAA/GGTTAA 1 -- int10--------
    rs353203891,2
    C--55614085(+) AAAAA-/A/AAA 
            
    CAATA
    2 -- int1 cds11NA 2
    rs2016323361,2
    --55625067(+) TTTTT-/TGGAGAC 1 -- int10--------
    rs2006519221,2
    C--55642567(-) GACTTC/TTTTTT 1 -- int10--------
    rs116953661,2
    C,H--55653917(+) TATATA/TTTTTT 1 -- int1 trp30--------
    rs352171751,2
    C--55653940(+) TTTTG-/T/TT  
            
    AGACA
    1 -- int11NA 2
    rs1920358041,2
    --55726821(+) CATTGC/GGCCGC 1 -- ds50010--------
    rs1997265631,2
    C--55726886(+) AAAAG-/AAAG  
            
    AAGAA
    1 -- ds50010--------

    HapMap Linkage Disequilibrium report for PNPT1 (55861198 - 55921045 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for PNPT1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv834080CNV Loss17160897
    nsv520581CNV Loss19592680
    esv22582CNV Gain19812545
    nsv9802CNV Gain18304495
    nsv514069CNV Gain21397061
    nsv9791CNV Gain18304495
    nsv442740CNV CNV18776908
    dgv1185e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): PNPT1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PNPT1
    DNA2.0 Custom Variant and Variant Library Synthesis for PNPT1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610316   
    OMIM disorders: 614932  614934  
    UniProtKB/Swiss-Prot: PNPT1_HUMAN, Q8TCS8
  • Combined oxidative phosphorylation deficiency 13 (COXPD13) [MIM:614932]: A mitochondrial disorder
    characterized by early onset severe encephalomyopathy, dystonia, choreoathetosis, bucofacial dyskinesias and
    combined mitochondrial respiratory chain deficiency. Nerve conductions velocities are decreased. Levels of plasma
    and cerebrospinal fluid lactate are increased. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Deafness, autosomal recessive, 70 (DFNB70) [MIM:614934]: A form of non-syndromic deafness characterized
    by severe, bilateral hearing impairment with prelingual onset, resulting in inability to acquire normal speech.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 5 diseases for PNPT1:    
    About MalaCards
    combined oxidative phosphorylation deficiency 13    deafness, autosomal recessive 70    nonsyndromic deafness    autosomal recessive nonsyndromic deafness
    deafness, autosomal recessive 76


    Find genes that share disorders with PNPT1           About GenesLikeMe

    1 Novoseek inferred disease relationship for PNPT1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    melanoma 0 1 16055741 (1)

    Genetic Association Database (GAD): PNPT1
    Human Genome Epidemiology (HuGE) Navigator: PNPT1 (3 documents)

    Export disorders for PNPT1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PNPT1 gene, integrated from 10 sources (see all 100):
    (articles sorted by number of sources associating them with PNPT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Protein-protein interactions between human exosome components support the assembly of RNase PH-type subunits into a six-membered PNPase-like ring. (PubMed id 12419256)1, 2, 3 Raijmakers R.... Pruijn G.J.M. (J. Mol. Biol. 2002)
    2. Mammalian polynucleotide phosphorylase is an intermembrane space RNase that maintains mitochondrial homeostasis. (PubMed id 16966381)1, 2, 9 Chen H.W....French S.W. (Mol. Cell. Biol. 2006)
    3. Analysis of the human polynucleotide phosphorylase (PNPase) reveals differences in RNA binding and response to phosphate compared to its bacterial and chloroplast counterparts. (PubMed id 18083836)1, 2, 9 Portnoy V.... Schuster G. (RNA 2008)
    4. Stable PNPase RNAi silencing: its effect on the processing and adenylation of human mitochondrial RNA. (PubMed id 18083837)1, 2, 9 Slomovic S. and Schuster G. (RNA 2008)
    5. Human mitochondrial SUV3 and polynucleotide phosphorylase form a 330- kDa heteropentamer to cooperatively degrade double-stranded RNA with a 3'-to-5' directionality. (PubMed id 19509288)1, 2, 9 Wang D.D.... Lee W.H. (J. Biol. Chem. 2009)
    6. Defining the domains of human polynucleotide phosphorylase (hPNPaseOLD-35) mediating cellular senescence. (PubMed id 16055741)1, 2, 9 Sarkar D.... Fisher P.B. (Mol. Cell. Biol. 2005)
    7. A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss. (PubMed id 23084290)1, 2 von Ameln S.... Kubisch C. (Am. J. Hum. Genet. 2012)
    8. Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency. (PubMed id 23084291)1, 2 Vedrenne V.... Rotig A. (Am. J. Hum. Genet. 2012)
    9. PNPASE regulates RNA import into mitochondria. (PubMed id 20691904)1, 2 Wang G.... Teitell M.A. (Cell 2010)
    10. Human polynucleotide phosphorylase selectively and preferentially degrades microRNA-221 in human melanoma cells. (PubMed id 20547861)1, 2 Das S.K....Fisher P.B. (Proc. Natl. Acad. Sci. U.S.A. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 87178 HGNC: 23166 AceView: PNPT1 Ensembl:ENSG00000138035 euGenes: HUgn87178
    ECgene: PNPT1 Kegg: 87178 H-InvDB: PNPT1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for PNPT1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PNPT1 gene:
    Search GeneIP for patents involving PNPT1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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