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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PNPT1 Gene

protein-coding   GIFtS: 59
GCID: GC02M055861

Polyribonucleotide Nucleotidyltransferase 1

(Previous names: deafness, autosomal recessive 70)
(Previous symbol: DFNB70)
Microbiology & Infectious Diseases Congress
  See 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)
About This Section

Aliases
Polyribonucleotide Nucleotidyltransferase 11 2     3'-5' RNA Exonuclease1
DFNB701 2     Deafness, Autosomal Recessive 701
Polynucleotide Phosphorylase 12 3     Polynucleotide Phosphorylase1
Polynucleotide Phosphorylase-Like Protein2 3     COXPD132
3'-5' RNA Exonuclease OLD352 3     OLD352
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 deafness, autosomal recessive, 70, and autosomal recessive nonsyndromic deafness, and among its related super-pathways are Pyrimidine metabolism and Deadenylation-dependent mRNA decay. 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. Hydrolyzes 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_022184.15  NC_018913.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PNPT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Cytoplasm. Mitochondrion. Mitochondrion intermembrane space; Peripheral membrane protein
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8TCS8

  • 4 DME Specific Peptides for PNPT1 (Q8TCS8)
     IDRSIRP  SNGSSSMA  RQKAAAAG  LESNGSSS 

    PNPT1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PNPT1 Protein Expression
    REFSEQ proteins: NP_149100.2  
    ENSEMBL proteins: 
     ENSP00000400646   ENSP00000393953   ENSP00000260604   ENSP00000411057   ENSP00000411994  

    Human Recombinant Protein Products for PNPT1: 
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    Cloud-Clone Corp. Proteins for PNPT1 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IDA--
    GO:0005758mitochondrial intermembrane space IDA16966381
    GO:0005886plasma membrane IDA--
    GO:0045025mitochondrial degradosome IDA19509288

    PNPT1 for ontologies           About GeneDecksing



    PNPT1 Antibody Products: 
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    Cloud-Clone Corp. CLIAs for PNPT1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/11 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


    PNPT1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PNPT1_HUMAN, Q8TCS8
    Function: RNA-binding protein implicated in numerous RNA metabolic processes. Hydrolyzes 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): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    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
         
    PNPT1 for ontologies           About GeneDecksing


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

    PNPT1 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PNPT1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PNPT1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PNPT1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PNPT1 

    miRNA
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    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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PNPT1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PNPT1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Purine metabolism
    Purine metabolism0.38
    Pyrimidine metabolism0.38
    2Deadenylation-dependent mRNA decay
    RNA degradation0.49

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



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


    PNPT1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PNPT1

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

    5/342 Interacting proteins for PNPT1 (Q8TCS82, 3 ENSP000003939534) via UniProtKB, MINT, STRING, and/or I2D (see all 342)
    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
    MRPL13Q9BYD12, ENSP000003065484MINT-8079030 STRING: ENSP00000306548
    MRPL17Q9NRX22, ENSP000002889374MINT-8079030 STRING: ENSP00000288937
    About this table

    Gene Ontology (GO): 5/24 biological process terms (GO ID links to tree view) (see all 24):    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

    PNPT1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PNPT1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    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)

    Search CenterWatch for drugs/clinical trials and news about PNPT1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    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 

    24/177 AceView cDNA sequences (see all 177):

    AY290863 BM803192 CB151524 CA426544 CB851046 BQ029360 BQ955250 BF447382 
    BC009057 BQ018568 CA391947 AL044605 BE897841 AI823473 AA490814 AA564577 
    AW117458 AJ458465 BU838939 BC000862 AI148042 BU509221 CB122089 BQ009444 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PNPT1 expression in normal human tissues (normalized intensities)      PNPT1 embryonic expression: see
    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 
     5/27 selected tissues (see all 27) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             rectum ; glandular cells   

    See PNPT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PNPT1

    SOURCE GeneReport for Unigene cluster: Hs.388733
        SABiosciences 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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PNPT1 gene from 8/16 species (see all 16)    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 78.73(n)
    81.84(a)
      421206  XM_419282.3  XP_419282.3 
    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 
    rainbow trout
    (Oncorhynchus mykiss)
    Actinopterygii BX086957.12   -- 74.37(n)    BX086957.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG113371 CG11337 54.69(n)
    57.48(a)
      43710  NM_001170312.1  NP_001163783.1 
    worm
    (Caenorhabditis elegans)
    Secernentea BE0003N10.11 Protein BE0003N10.1 49.22(n)
    43.51(a)
      175269  NM_064923.3  NP_497324.3 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G145801 polyribonucleotide nucleotidyltransferase 50.8(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)
    About This Section
    Paralogs for PNPT1 gene

    PNPT1 for paralogs           About GeneDecksing


    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1456 SNPs in PNPT1 are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 610316    OMIM disorders: --

    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

  • 13 diseases for PNPT1:    About MalaCards
    deafness, autosomal recessive, 70    autosomal recessive nonsyndromic deafness    nonsyndromic deafness    acute lymphoblastic leukemia
    lymphoblastic leukemia    melanoma    pneumonia    multiple sclerosis
    colon cancer    pancreatic cancer    tuberculosis    pancreatitis
    leukemia


    PNPT1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for PNPT1 gene, integrated from 9 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. (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. (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. (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. (2008)
    5. Human mitochondrial SUV3 and polynucleotide phosphory lase 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. (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. (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. (2012)
    8. Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respirat ory-chain deficiency. (PubMed id 23084291)1, 2 Vedrenne V....Rotig A. (2012)
    9. PNPASE regulates RNA import into mitochondria. (PubMed id 20691904)1, 2 Wang G....Teitell M.A. (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. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 87178 HGNC: 23166 AceView: PNPT1 Ensembl:ENSG00000138035 euGenes: HUgn87178
    ECgene: PNPT1 Kegg: 87178 H-InvDB: PNPT1

    (According to HUGE)
    About This Section
      --

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