PNPT1 Gene
protein-coding GIFtS: 55
GCID: GC02M055861
|
|
polyribonucleotide nucleotidyltransferase 1(Previous names: deafness, autosomal recessive 70 ) (Previous symbol: DFNB70)
| |
Aliases for PNPT1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Polyribonucleotide Nucleotidyltransferase 11 2 | | PNPase 12 3 | | DFNB701 2 | | PNPase Old-352 3 | | OLD351 2 | | EC 2.7.7.83 8 | | Old-351 | | PNPase1 | | Polynucleotide Phosphorylase 12 3 | | Deafness, Autosomal Recessive 701 | | Polynucleotide Phosphorylase-Like Protein2 3 | | COXPD132 | | 3'-5' RNA Exonuclease OLD352 3 | | Polyribonucleotide Nucleotidyltransferase 1, Mitochondrial2 | | PNPASE2 3 | | EC 2.7.78 |
Export aliases for PNPT1 gene to outside databasesPrevious GC identifers: GC02M055820 GC02M055837 GC02M055836 GC02M055774 GC02M055715 GC02M055596 |
Summaries for PNPT1 gene(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: The protein encoded by this gene belongs to the evolutionary conserved polynucleotide phosphorylase family comprised ofphosphate dependent 3'-to-5' exoribonucleases implicated in RNA processing and degradation. This enzyme ispredominantly 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 autosomalrecessive nonsyndromic deafness-70. Related pseudogenes are found on chromosomes 3 and 7. (provided by RefSeq, Dec2012) UniProtKB/Swiss-Prot: PNPT1_HUMAN, Q8TCS8Function: RNA-binding protein implicated in numerous RNA metabolic processes. Hydrolyzes single-strandedpolyribonucleotides processively in the 3'-to-5' direction. Mitochondrial intermembrane factor with RNA-processingexoribonulease activity. Component of the mitochondrial degradosome (mtEXO) complex, that degrades 3' overhangdouble-stranded RNA with a 3'-to-5' directionality in an ATP-dependent manner. Required for correct processing andpolyadenylation of mitochondrial mRNAs. Plays a role as a cytoplasmic RNA import factor that mediates thetranslocation of small RNA components, like the 5S RNA, the RNA subunit of ribonuclease P and the mitochondrialRNA-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 thecytoplasm, shows a 3'-to-5' exoribonuclease mediating mRNA degradation activity; degrades c-myc mRNA upon treatmentwith IFNB1/IFN-beta, resulting in a growth arrest in melanoma cells. Regulates the stability of specific mature miRNAsin melanoma cells; specifically and selectively degrades miR-221, preferentially. Plays also a role in RNA cellsurveillance by cleaning up oxidized RNAs. Binds to the RNA subunit of ribonuclease P, MRP RNA and miR-221 microRNA
|
Genomic Views for PNPT1 gene
(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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000002.11 NC_018913.1 NT_022184.15
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
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: 2p15PNPT1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

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 |
|
Proteins for PNPT1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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 aheteropentamer containing 2 copies of SUPV3L1 and 3 copies of PNPT1. Interacts with TCL1A; the interaction has noeffect 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 Q9BVX0Explore the universe of human proteins at neXtProt for PNPT1: NX_Q8TCS8
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8TCS8 4 DME Specific Peptides for PNPT1 (Q8TCS8)
PNPT1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_149100.2 ENSEMBL proteins: ENSP00000400646 ENSP00000393953 ENSP00000260604 ENSP00000386075 ENSP00000411057 ENSP00000411994 Human Recombinant Protein Products:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
PNPT1 for ontologies About GeneDecksing
PNPT1 Antibody Products: Assay Products for PNPT1: |
Protein
Domains / Families for PNPT1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
PNPT1 for domains About GeneDecksing
5/10 InterPro domains/families (see all 10):Graphical View of Domain Structure for InterPro Entry Q8TCS8ProtoNet 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, Q8TCS8Similarity: Belongs to the polyribonucleotide nucleotidyltransferase familySimilarity: Contains 1 KH domainSimilarity: Contains 1 S1 motif domain |
Function for PNPT1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: PNPT1_HUMAN, Q8TCS8Function: RNA-binding protein implicated in numerous RNA metabolic processes. Hydrolyzes single-strandedpolyribonucleotides processively in the 3'-to-5' direction. Mitochondrial intermembrane factor with RNA-processingexoribonulease activity. Component of the mitochondrial degradosome (mtEXO) complex, that degrades 3' overhangdouble-stranded RNA with a 3'-to-5' directionality in an ATP-dependent manner. Required for correct processing andpolyadenylation of mitochondrial mRNAs. Plays a role as a cytoplasmic RNA import factor that mediates thetranslocation of small RNA components, like the 5S RNA, the RNA subunit of ribonuclease P and the mitochondrialRNA-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 thecytoplasm, shows a 3'-to-5' exoribonuclease mediating mRNA degradation activity; degrades c-myc mRNA upon treatmentwith IFNB1/IFN-beta, resulting in a growth arrest in melanoma cells. Regulates the stability of specific mature miRNAsin melanoma cells; specifically and selectively degrades miR-221, preferentially. Plays also a role in RNA cellsurveillance by cleaning up oxidized RNAs. Binds to the RNA subunit of ribonuclease P, MRP RNA and miR-221 microRNACatalytic activity: RNA(n+1) + phosphate = RNA(n) + a nucleoside diphosphateInduction: Up-regulated in cells upon senescence and terminal differentiation. Up-regulated after treatment withIFNB1/IFN-betaEnzyme Numbers (IUBMB): EC 2.7.7.81 2 EC 2.7.72
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PNPT1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PNPT1 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: PNPT1 (NM_033109) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PNPT1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PNPT1  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PNPT1 |
Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table
PNPT1 for ontologies About GeneDecksing
Animal Models: Mouse knock-out Pnpt1tm1.1Teit for PNPT1 3 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Pnpt1):
PNPT1 for phenotypes About GeneDecksing
|
Pathways & Interactions for PNPT1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 2013 via
Entrez Gene).
About This Section
| Unified GeneCards pathways  About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Purine metabolism | | | 2 | Deadenylation-dependent mRNA decay | |
Pathway sources See GeneCards unified pathways Show all pathways
3
Kegg Pathways (Kegg details for PNPT1):
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)
 5/328 Interacting proteins for PNPT1 (Q8TCS82, 3 ENSP000003939534) via UniProtKB, MINT, STRING, and/or I2D (see all 328)About this table
Gene Ontology (GO): 5/25 biological process terms (GO ID links to tree view) (see all 25): About this table
PNPT1 for ontologies About GeneDecksing
|
Drugs & Compounds for PNPT1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, 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 Tocris compounds for PNPT1
6 HMDB Compounds for PNPT1 About this table 9 Novoseek 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 
|
Transcripts for PNPT1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
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,
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_0331097 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000447944(uc002rzf.2) ENST00000415374 ENST00000260604 ENST00000402246 ENST00000481066 ENST00000415489 ENST00000429805
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PNPT1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PNPT1 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: PNPT1 (NM_033109) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PNPT1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PNPT1  |
Additional cDNA 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): BC000862 BF447382 BE897841 AL044605 BC009057 CB851046 AI823473 BQ955250 AJ458465 AW117458 BU509221 CR625599 BQ029360 BM803192 CB151524 CA391947 BU838939 CA426544 AY290863 CB122089 AA564577 BQ009444 BQ018568 AI148042 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
|
Expression for PNPT1 gene
(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) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: TTAGGCAATG
About this image 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
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PNPT1 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat PNPT1 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PNPT1 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PNPT1 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PNPT1 |
Orthologs for PNPT1 gene
(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 last universal common ancestor (LUCA).
Orthologs for PNPT1 gene from 10/28 species (see all 28) 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 |
-- |
78(a) |
1 ↔ 1 |
1(256066442-256102756) |
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 |
rice (Oryza sativa) |
Liliopsida |
---- |
polynucleotide phosphorylase, putative, expressedS1 RNA binding domain containing protein, expresse... |
26(a)16(a) |
possible ortholog1 ↔ 1 |
7(3644692-3655755) 2(24525422-24528960) |
E. coli (Escherichia coli) |
Gamma proteobacteria |
pnp6 |
polynucleotide phosphorylase/polyadenylase |
37(a) |
1 ↔ 1 |
Chromosome(3307055-3309190) |
ENSEMBL Gene Tree for PNPT1 (if available) TreeFam Gene Tree for PNPT1 (if available)  |
Paralogs for PNPT1 gene(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
|
Genomic Variants for PNPT1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 2 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for PNPT1 (55861198 - 55921045 bp)
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 Human Gene Mutation Database (HGMD): PNPT1
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PNPT1 |
|
Disorders
/ Diseases for PNPT1 gene
(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.)
About This Section
|
PNPT1 for disorders About GeneDecksing
OMIM gene information: 610316
OMIM disorders: --
11 diseases for PNPT1: About MalaCardsacute lymphoblastic leukemia lymphoblastic leukemia multiple sclerosis colon cancer pancreatic cancer leukemia melanoma pancreatitis pneumonia tuberculosis mycobacterium tuberculosis
1 Novoseek 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) |
Human Genome Epidemiology (HuGE) Navigator: PNPT1 (3 documents) Export disorders for PNPT1 gene to outside databases
|
Publications for PNPT1 gene (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 98): (articles sorted by number of sources associating them with PNPT1) | |  | Utopia: connect your pdf to the dynamic world of online information |
- 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)
- 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)
- 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)
- 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)
- 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)
- Defining the domains of human polynucleotide phosphorylase (hPNPaseOLD-35) mediating cellular senescence. (PubMed id 16055741)1, 2, 9 Sarkar D....Fisher P.B. (2005)
- PNPASE regulates RNA import into mitochondria. (PubMed id 20691904)1, 2 Wang G....Teitell M.A. (2010)
- 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)
- Human polynucleotide phosphorylase reduces oxidative RNA damage and protects HeLa cell against oxidative stress. (PubMed id 18501193)1, 2 Wu J. and Li Z. (2008)
- The TCL1 oncoprotein binds the RNase PH domains of the PNPase exoribonuclease without affecting its RNA degrading activity. (PubMed id 16934922)1, 2 French S.W....Teitell M.A. (2007)
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External Searches for PNPT1 gene
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Genome Databases showing PNPT1 gene
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Specialized Databases showing PNPT1 gene(According to PharmGKB,
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| Name | Description |
| PharmGKB entry for PNPT1 | Pharmacogenomics, SNPs, Pathways |
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| Patent Information for PNPT1 gene: Search GeneIP for patents involving PNPT1
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Products for PNPT1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
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| | | | OriGene Antibodies for PNPT1 | | OriGene shRNA RFP for PNPT1 | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PNPT1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PNPT1 | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | OriGene siRNA for PNPT1 | | OriGene 3'-UTR Clone for PNPT1 | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PNPT1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PNPT1 | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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