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PNPT1 Gene

protein-coding   GIFtS: 53

GC02M055596
polyribonucleotide nucleotidyltransferase 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
polyribonucleotide nucleotidyltransferase 11 2     PNPASE2 3
old-351 2     PNPase1
OLD351 2     polyribonucleotide nucleotidyltransferase 1, mitochondrial2
Polynucleotide phosphorylase 12 3     OTTHUMP000002018152
Polynucleotide phosphorylase-like protein2 3     OTTHUMP000002012372
PNPase old-352 3     DKFZp762K19142
PNPase 12 3     EC 2.7.7.83
3'-5' RNA exonuclease OLD352 3     

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

Export aliases for PNPT1 gene to outside databases

Previous GC identifers: GC02M055820 GC02M055837 GC02M055836 GC02M055774 GC02M055715 GC02M055861


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PNPT1:
PNPT1 is a subunit of the exosome complex, which is involved in 3-prime-to-5-prime exoribonuclease activity for RNA
processing and degradation (Raijmakers et al., 2002 (PubMed 12419256)).(supplied by OMIM)

UniProtKB/Swiss-Prot: PNPT1_HUMAN, Q8TCS8
Function: Involved in mRNA degradation. Hydrolyzes single-stranded polyribonucleotides processively in the 3'- to
5'-direction


(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PNPT1 gene promoter:
         GCNF-2   GCNF-1   AREB6   FOXJ2 (long isoform)   IRF-7A   ISGF-3   Cart-1   MEF-2A   PPAR-gamma1   PPAR-gamma2   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for PNPT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for 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 gene densities for chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M055596:  view genomic region     (about GC identifiers)

Start:
55,596,276 bp from pter
End:
55,655,913 bp from pter
Size:
59,638 bases
Orientation:
minus strand

1 alternative location:
Chr2- 55,861,198-55,921,045     
RefSeq DNA sequence:
NC_000002.11  NT_022184.15  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
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 (Potential). Interacts with TCL1A; the interaction has no effect on PNPT1 exonuclease activity
Subcellular location: Mitochondrion
Secondary accessions: Q53SU0 Q68CN1 Q7Z7D1 Q8IWX1 Q96T05 Q9BRU3 Q9BVX0

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

Post-translational modifications:

  • Phosphorylated upon DNA damage, probably by ATM or ATR1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_149100.2  

    ENSEMBL proteins: 
    ENSP00000393953 ENSP00000411994 ENSP00000402488 ENSP00000411057 ENSP00000386075 ENSP00000260604 
    ENSP00000400646 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    GenScript Custom Purified and Recombinant Proteins Services for PNPT1 
    Novus Biologicals Protein for PNPT1
    Novus Biologicals Lysate for PNPT1
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    4 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737 cytoplasm IDA18029348
    GO:0005739 mitochondrion IDA18029348
    GO:0005758 mitochondrial intermembrane space IEA--
    GO:0005886 plasma membrane IDA18029348
    About this table

    PNPT1 for ontologies           About GeneDecksing



    Antibodies for PNPT1: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for PNPT1
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for PNPT1 
    Novus Biologicals Antibody for PNPT1
    Epitomics antibodies for PNPT1

    Assays for PNPT1: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PNPT1 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for PNPT1 


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

    PNPT1 for domains           About GeneDecksing

    5/12 InterPro domains/families (see all 12):
     IPR015847 ExoRNase_PH_dom2
     IPR018111 KH_type_1_subgr
     IPR003029 Rbsml_prot_S1_RNA-bd_dom
     IPR004087 KH
     IPR016027 NA-bd_OB-fold-like

    Graphical View of Domain Structure for InterPro Entry Q8TCS8

    ProtoNet protein and cluster: Q8TCS8

    4 Blocks protein families:
    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


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    UniProtKB/Swiss-Prot: PNPT1_HUMAN, Q8TCS8
    Function: Involved in mRNA degradation. Hydrolyzes single-stranded polyribonucleotides processively in the 3'- to
    5'-direction
    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 Number (IUBMB): EC 2.7.7.8 

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for PNPT1
    Sigma-Aldrich shRNA for PNPT1
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): PNPT1
    OriGene shRNA RFP (see all 2): PNPT1
    OriGene basic RS shRNA (see all 2): PNPT1
    OriGene siRNA: PNPT1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of PNPT1 
    miRNA:Sigma-Aldrich microRNA Mimics for PNPT1
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of PNPT1 
    2 SABiosciences Assays for microRNAs that regulate PNPT1:
    hsa-miR-656 hsa-miR-183

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: PNPT1
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: PNPT1
    OriGene untagged cDNA clones in CMV expression vector: PNPT1
    OriGene 3'-UTR clone: PNPT1 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for PNPT1 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for PNPT1 

    5 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000175 3'-5'-exoribonuclease activity IEA--
    GO:0003723 RNA binding IEA--
    GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds ----
    GO:0004654 polyribonucleotide nucleotidyltransferase activity IEA--
    GO:0016740 transferase activity IEA--
    About this table

    PNPT1 for ontologies           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    PNPT1 for pathways           About GeneDecksing

    5 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for  PNPT1
        Aminosugars Metabolism
    Pyrimidine Metabolism
    Purine Metabolism
    Nucleotide Sugars Metabolism
    Glycosaminoglycan Degradation

    3 Kegg Pathways  (Kegg details for PNPT1):
        hsa00230 Purine metabolism
    hsa00240 Pyrimidine metabolism
    hsa03018 RNA degradation

        SABiosciences Custom Pathway-Focused PCR Arrays for PNPT1 

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for PNPT1
        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PNPT1

    5/234 Interacting proteins for PNPT1 (Q8TCS82) via UniProtKB, MINT, and/or STRING (see all 234)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AARS2Q5JTZ92MINT-8079030
    AASSQ9UDR52MINT-8079030
    ACAD9Q9H8452MINT-8079030
    ACADVLP497482MINT-8079030
    ACOT9Q9Y3052MINT-8079030
    About this table

    3 Gene Ontology (GO) biological process terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975 carbohydrate metabolic process ----
    GO:0006396 RNA processing IEA--
    GO:0006402 mRNA catabolic process IEA--
    About this table

    PNPT1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    PNPT1 for compounds           About GeneDecksing

    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PNPT1
    9 Novoseek chemical compound relationships for PNPT1 gene
    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)
    About this table



    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for PNPT1
    Sigma-Aldrich shRNA for PNPT1
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): PNPT1
    OriGene shRNA RFP (see all 2): PNPT1
    OriGene basic RS shRNA (see all 2): PNPT1
    OriGene siRNA: PNPT1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of PNPT1 
    miRNA: Sigma-Aldrich microRNA Mimics for PNPT1
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of PNPT1 
    2 SABiosciences Assays for microRNAs that regulate PNPT1:
    hsa-miR-656 hsa-miR-183
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: PNPT1
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: PNPT1
    OriGene untagged cDNA clones in CMV expression vector: PNPT1
    OriGene 3'-UTR Clone: PNPT1 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for PNPT1 
    Primers: OriGene genome-wide validated SYBR primer pairs: PNPT1
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for PNPT1: PPH18978A

    REFSEQ mRNAs for PNPT1 gene: 

    NM_033109.3  

    Additional cDNA sequence: 

    AJ458465.1 AK307589.1 AY027528.1 AY290863.1 BC000862.2 BC005986.1 BC009057.1 BC021170.1 
    BC053660.1 CR625599.1 CR749867.1 

    11 DOTS entries:

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

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

    BE897841 BQ009444 AI148042 BQ955250 CA391947 AA490814 AI823473 AA564577 
    CR625599 BU509221 BU838939 BM803192 BQ018568 BC009057 AJ458465 CB122089 
    BQ029360 BF447382 CB851046 AW117458 AY290863 BC000862 CA426544 AL044605 

    highest scoring ESTs for PNPT1:

    AA535914 AI684451 AJ458465 AY027528 BC009057 BC053660 BX644725 CA407413 CB989232 CD656849 

    Unigene Cluster for PNPT1:

    Polyribonucleotide nucleotidyltransferase 1
    Hs.388733  [show with all ESTs]
    Unigene Representative Sequence: NM_033109


    GeneLoc Exon Structure

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

    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:                                    

    About this scheme

    ECgene alternative splicing isoforms for PNPT1
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000415374 ENST00000429805 ENST00000481066 ENST00000450096(uc002rzf.2 uc002rzg.2)
    ENST00000415489 ENST00000402246 ENST00000260604 ENST00000447944

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    PNPT1 expression in normal and diseased human tissues

    1  / 2  / 3

    4 probe-sets matching PNPT1 gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    64038_at2, 3 U95-C 2 1.00 0.97 0.87 1.12 AI684451 0.80 1.00 0.91 1
    63984_f_at2, 3 U95-C 2 0.44 0.93 0.76 0.88 AA535914 0.80 1.00 0.91 1
    225291_at2, 3 U133-B 1 1.00 1.00 -- -- AI967971 0.60 1.00 0.82 1
    225291_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table

    PNPT1 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    PNPT1 gene expression
    PNPT1 gene electronic northern expression
    PNPT1 gene sage expression
    About these images

    CGAP SAGE TAG: TTAGGCAATG

    SOURCE GeneReport for Unigene cluster: Hs.388733
    Primers: OriGene genome-wide validated SYBR primer pairs: PNPT1
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for PNPT1: PPH18978A
        SABiosciences Custom PCR Arrays for PNPT1 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for PNPT1 gene from 5/13 species (see all 13)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    PNPT11   -- polyribonucleotide nucleotidyltransferase 1 90.24(n)
    91.82(a)
    481376  XM_538497.2  XP_538497.2 
    chimpanzee
    (Pan troglodytes)
    PNPT11   -- polyribonucleotide nucleotidyltransferase 1 99.62(n)
    99.62(a)
    459247  XM_515490.2  XP_515490.2 
    cow
    (Bos taurus)
    PNPT11   -- polyribonucleotide nucleotidyltransferase 1 91.26(n)
    91.69(a)
    508877  XM_585722.3  XP_585722.2 
    rat
    (Rattus norvegicus)
    Pnpt11   -- polyribonucleotide nucleotidyltransferase 1 88.45(n)
    91.69(a)
    360992  XM_341266.3  XP_341267.2 
    mouse
    (Mus musculus)
    Pnpt11 , 5 11 (16.46 cM)5
    polyribonucleotide nucleotidyltransferase 11, 5 87.13(n)1
    90.92(a)1
    717011  NM_027869.11  NP_082145.11 
     AF4652495  AJ5073875  (see all 20)
    About this table        Species with no ortholog for PNPT1

    ENSEMBL Gene Tree for PNPT1 (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
      --

    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/627 NCBI SNPs in PNPT1 are shown (see all 627)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 2 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs7065491,2
    C,F,H,55902395(-) actctG/Attgtc 1 -- int1103Minor allele frequency- A:0.34NS EA PA EU CA WA NA 6270
    rs7065501,2
    C,F,A,H,55902416(-) tctggC/Ttctca 1 -- int115Minor allele frequency- T:0.26NS EA NA 1010
    rs7065511,2
    C,F,O,A,H,55903620(-) TGAACA/CGTACC 1 -- int1110Minor allele frequency- C:0.34NS EA PA EU CA WA NA 6832
    rs7825661,2
    C,F,A,H55880182(+) ttcacC/Tatgtt 1 -- int14Minor allele frequency- T:0.30NA 10
    rs7825671,2
    C,A55881257(+) cgtggC/Tagcac 1 -- int12Minor allele frequency- T:0.25NA 4
    rs7825681,2
    C,F,O,A,H,55881538(+) ATAAAT/CCGACT 1 -- int113Minor allele frequency- C:0.31NS EA NA WA 774
    rs7825691,2
    C,A,55881816(+) TAAAAT/CCCAAA 1 -- int16Minor allele frequency- C:0.34NA EA WA 168
    rs7825701,2
    C,F,A,H,55911351(+) ggccgG/Agcaca 1 -- int17Minor allele frequency- A:0.12NA WA 16
    rs7825711,2
    C,F,A,H55911440(+) accaaC/Aatgga 1 -- int17Minor allele frequency- A:0.11NA WA 18
    rs7825721,2
    C,F,O,A,55912120(+) ACCAAT/CCTCTC 2 /I /V ref1 mis1 trp315Minor allele frequency- C:0.31NS EA NA WA 1128
    About this table

    HapMap Linkage Disequilibrium images for PNPT1 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 7 variations for PNPT1
         7 CNVs: 78552 37716 30945 67806 89663 30944 3357

    QIAGEN SeqTarget long-range PCR primers for resequencing PNPT1 

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    PNPT1 for disorders           About GeneDecksing

    OMIM: 610316

    1 Novoseek disease relationship for PNPT1 gene

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

    Human Genome Epidemiology (HuGE) Navigator: PNPT1 (3 documents)

    Export disorders and mutations for PNPT1 gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
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    10/89 PubMed articles for PNPT1 gene, integrated from 7 sources (see all 89):
    (articles sorted by number of sources associating them with PNPT1)
    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. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Human polynucleotide phosphorylase, hPNPase, is localized in mitochondria. (PubMed id 12798676)1, 2 Piwowarski J.... Stepien P.P. (2003)
    5. Identification and cloning of human polynucleotide phosphorylase, hPNPase (old-35), in the context of terminal differentiation and cellular senescence. (PubMed id 12473748)1, 2 Leszczyniecka M.... Fisher P.B. (2002)
    6. Mammalian polynucleotide phosphorylase is an intermembrane space RNase that maintains mitochondrial homeostasis. (PubMed id 16966381)1, 7 Chen H.W....French S.W. (2006)
    7. 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, 7 Portnoy V....Schuster G. (2008)
    8. Stable PNPase RNAi silencing: its effect on the processing and adenylation of human mitochondrial RNA. (PubMed id 18083837)1, 7 Slomovic S. and Schuster G. (2008)
    9. 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, 7 Wang D.D....Lee W.H. (2009)
    10. Defining the domains of human polynucleotide phosphorylase (hPNPaseOLD-35) mediating cellular senescence. (PubMed id 16055741)1, 7 Sarkar D....Fisher P.B. (2005)

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    (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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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