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Aliases for PNPT1 Gene

Aliases for PNPT1 Gene

  • Polyribonucleotide Nucleotidyltransferase 1 2 3
  • Polynucleotide Phosphorylase-Like Protein 3 4
  • Polynucleotide Phosphorylase 1 3 4
  • 3-5 RNA Exonuclease OLD35 3 4
  • PNPase Old-35 3 4
  • EC 2.7.7.8 4 63
  • PNPase 1 3 4
  • COXPD13 3 6
  • DFNB70 3 6
  • PNPASE 3 4
  • OLD35 3 6
  • Polyribonucleotide Nucleotidyltransferase 1, Mitochondrial 3
  • Deafness, Autosomal Recessive 70 2
  • Polynucleotide Phosphorylase 2
  • 3-5 RNA Exonuclease 2
  • EC 2.7.7 63
  • Old-35 3

External Ids for PNPT1 Gene

Previous HGNC Symbols for PNPT1 Gene

  • DFNB70

Previous GeneCards Identifiers for PNPT1 Gene

  • GC02M055820
  • GC02M055837
  • GC02M055836
  • GC02M055774
  • GC02M055715
  • GC02M055861

Summaries for PNPT1 Gene

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. Among its related pathways are Purine metabolism (KEGG) and Deadenylation-dependent mRNA decay. GO annotations related to this gene include 3-5-exoribonuclease activity and poly(U) RNA binding.

UniProtKB/Swiss-Prot for PNPT1 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PNPT1 Gene

Genomics for PNPT1 Gene

Regulatory Elements for PNPT1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PNPT1 Gene

Start:
55,634,063 bp from pter
End:
55,693,910 bp from pter
Size:
59,848 bases
Orientation:
Minus strand

Genomic View for PNPT1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PNPT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PNPT1 Gene

Proteins for PNPT1 Gene

  • Protein details for PNPT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TCS8-PNPT1_HUMAN
    Recommended name:
    Polyribonucleotide nucleotidyltransferase 1, mitochondrial
    Protein Accession:
    Q8TCS8
    Secondary Accessions:
    • Q53SU0
    • Q68CN1
    • Q7Z7D1
    • Q8IWX1
    • Q96T05
    • Q9BRU3
    • Q9BVX0

    Protein attributes for PNPT1 Gene

    Size:
    783 amino acids
    Molecular mass:
    85951 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for PNPT1 Gene

neXtProt entry for PNPT1 Gene

Proteomics data for PNPT1 Gene at MOPED

Selected DME Specific Peptides for PNPT1 Gene

Post-translational modifications for PNPT1 Gene

  • Ubiquitination at Lys591
  • Modification sites at PhosphoSitePlus

Other Protein References for PNPT1 Gene

Antibody Products

Domains for PNPT1 Gene

Suggested Antigen Peptide Sequences for PNPT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TCS8

UniProtKB/Swiss-Prot:

PNPT1_HUMAN :
  • Q8TCS8
Domain:
  • Contains 1 KH domain.
  • Contains 1 S1 motif domain.
Family:
  • Belongs to the polyribonucleotide nucleotidyltransferase family.
genes like me logo Genes that share domains with PNPT1: view

No data available for Gene Families for PNPT1 Gene

Function for PNPT1 Gene

Molecular function for PNPT1 Gene

UniProtKB/Swiss-Prot CatalyticActivity: RNA(n+1) + phosphate = RNA(n) + a nucleoside diphosphate
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction: Up-regulated in cells upon senescence and terminal differentiation. Up-regulated after treatment with IFNB1/IFN-beta.

Enzyme Numbers (IUBMB) for PNPT1 Gene

Gene Ontology (GO) - Molecular Function for PNPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000175 3-5-exoribonuclease activity IDA 19509288
GO:0003676 nucleic acid binding --
GO:0003723 RNA binding --
GO:0004654 polyribonucleotide nucleotidyltransferase activity IDA 18083836
GO:0005515 protein binding IPI 16934922
genes like me logo Genes that share ontologies with PNPT1: view

Phenotypes for PNPT1 Gene

genes like me logo Genes that share phenotypes with PNPT1: view

Animal Models for PNPT1 Gene

MGI Knock Outs for PNPT1:

Animal Model Products

CRISPR Products

miRNA for PNPT1 Gene

miRTarBase miRNAs that target PNPT1

No data available for Transcription Factor Targeting and HOMER Transcription for PNPT1 Gene

Localization for PNPT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PNPT1 Gene

Cytoplasm. Mitochondrion. Mitochondrion intermembrane space; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PNPT1 Gene COMPARTMENTS Subcellular localization image for PNPT1 gene
Compartment Confidence
mitochondrion 5
plasma membrane 4
chloroplast 3
cytosol 3
nucleus 1

Gene Ontology (GO) - Cellular Components for PNPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005758 mitochondrial intermembrane space IDA 16966381
GO:0016020 membrane IEA --
GO:0045025 mitochondrial degradosome IDA 19509288
genes like me logo Genes that share ontologies with PNPT1: view

Pathways for PNPT1 Gene

genes like me logo Genes that share pathways with PNPT1: view

Pathways by source for PNPT1 Gene

Gene Ontology (GO) - Biological Process for PNPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000957 mitochondrial RNA catabolic process IDA 18501193
GO:0000958 mitochondrial mRNA catabolic process IDA 20691904
GO:0000962 positive regulation of mitochondrial RNA catabolic process IDA 19509288
GO:0000964 mitochondrial RNA 5-end processing IMP 18083837
GO:0000965 mitochondrial RNA 3-end processing IMP 18083837
genes like me logo Genes that share ontologies with PNPT1: view

Compounds for PNPT1 Gene

(6) HMDB Compounds for PNPT1 Gene

Compound Synonyms Cas Number PubMed IDs
ADP
  • adenosindiphosphorsaeure
58-64-0
CDP
  • CDP
63-38-7
dTDP
  • Deoxy-tdp
491-97-4
Guanosine diphosphate
  • 5'-GDP
146-91-8
Phosphate
  • NFB Orthophosphate
14265-44-2

(9) Novoseek inferred chemical compound relationships for PNPT1 Gene

Compound -log(P) Hits PubMed IDs
polynucleotide 93.1 25
purine nucleoside 85.6 13
pyrimidine nucleoside 62.8 2
inosine 57.3 1
deoxycytidine 45 1
genes like me logo Genes that share compounds with PNPT1: view

Transcripts for PNPT1 Gene

Unigene Clusters for PNPT1 Gene

Polyribonucleotide nucleotidyltransferase 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PNPT1

Primer Products

Flow Cytometry Products

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

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:

Relevant External Links for PNPT1 Gene

GeneLoc Exon Structure for
PNPT1
ECgene alternative splicing isoforms for
PNPT1

Expression for PNPT1 Gene

mRNA expression in normal human tissues for PNPT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PNPT1 Gene

SOURCE GeneReport for Unigene cluster for PNPT1 Gene Hs.388733

genes like me logo Genes that share expressions with PNPT1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PNPT1 Gene

Orthologs for PNPT1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PNPT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PNPT1 35
  • 99.62 (n)
  • 99.74 (a)
PNPT1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PNPT1 35
  • 91.25 (n)
  • 91.98 (a)
PNPT1 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PNPT1 35
  • 90.04 (n)
  • 91.85 (a)
PNPT1 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pnpt1 35
  • 87.13 (n)
  • 91.05 (a)
Pnpt1 16
Pnpt1 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PNPT1 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PNPT1 36
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pnpt1 35
  • 88.45 (n)
  • 91.82 (a)
chicken
(Gallus gallus)
Aves PNPT1 35
  • 77.62 (n)
  • 80.29 (a)
PNPT1 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PNPT1 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pnpt1 35
  • 74.88 (n)
  • 79.68 (a)
Str.3686 35
zebrafish
(Danio rerio)
Actinopterygii pnpt1 35
  • 64.2 (n)
  • 71.33 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010791 35
  • 55.37 (n)
  • 58.37 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11337 35
  • 55.22 (n)
  • 57.97 (a)
CG11337 36
  • 55 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea BE0003N10.1 35
  • 49.31 (n)
  • 43.51 (a)
BE0003N10.1 36
  • 41 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G14580 35
  • 50.75 (n)
  • 41.65 (a)
Species with no ortholog for PNPT1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PNPT1 Gene

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

Paralogs for PNPT1 Gene

Pseudogenes.org Pseudogenes for PNPT1 Gene

genes like me logo Genes that share paralogs with PNPT1: view

No data available for Paralogs for PNPT1 Gene

Variants for PNPT1 Gene

Sequence variations from dbSNP and Humsavar for PNPT1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs706549 -- 55,675,260(-) actct(A/G)ttgtc intron-variant
rs706550 -- 55,675,281(-) tctgg(C/T)tctca intron-variant
rs706551 -- 55,676,485(-) TGAAC(A/C)GTACC intron-variant
rs782565 -- 55,651,789(+) aaaaa(A/T)TTAAA intron-variant
rs782566 -- 55,653,047(+) TTCAC(C/T)ATGTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PNPT1 Gene

Variant ID Type Subtype PubMed ID
nsv520581 CNV Loss 19592680
nsv834080 CNV Loss 17160897
dgv1185e1 CNV Complex 17122850
nsv9791 CNV Gain 18304495
nsv9802 CNV Gain 18304495
esv22582 CNV Gain 19812545
nsv442740 CNV CNV 18776908
nsv514069 CNV Gain 21397061

Relevant External Links for PNPT1 Gene

HapMap Linkage Disequilibrium report
PNPT1
Human Gene Mutation Database (HGMD)
PNPT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PNPT1 Gene

Disorders for PNPT1 Gene

(2) OMIM Diseases for PNPT1 Gene (610316)

UniProtKB/Swiss-Prot

PNPT1_HUMAN
  • 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. {ECO:0000269 PubMed:23084291}. 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. {ECO:0000269 PubMed:23084290}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) Novoseek inferred disease relationships for PNPT1 Gene

Disease -log(P) Hits PubMed IDs
melanoma 0 1

Relevant External Links for PNPT1

Genetic Association Database (GAD)
PNPT1
Human Genome Epidemiology (HuGE) Navigator
PNPT1
genes like me logo Genes that share disorders with PNPT1: view

Publications for PNPT1 Gene

  1. Defining the domains of human polynucleotide phosphorylase (hPNPaseOLD-35) mediating cellular senescence. (PMID: 16055741) Sarkar D. … Fisher P.B. (Mol. Cell. Biol. 2005) 3 4 23
  2. Analysis of the human polynucleotide phosphorylase (PNPase) reveals differences in RNA binding and response to phosphate compared to its bacterial and chloroplast counterparts. (PMID: 18083836) Portnoy V. … Schuster G. (RNA 2008) 3 4 23
  3. Stable PNPase RNAi silencing: its effect on the processing and adenylation of human mitochondrial RNA. (PMID: 18083837) Slomovic S. … Schuster G. (RNA 2008) 3 4 23
  4. Mammalian polynucleotide phosphorylase is an intermembrane space RNase that maintains mitochondrial homeostasis. (PMID: 16966381) Chen H.W. … French S.W. (Mol. Cell. Biol. 2006) 3 4 23
  5. Human mitochondrial SUV3 and polynucleotide phosphorylase form a 330- kDa heteropentamer to cooperatively degrade double-stranded RNA with a 3'-to-5' directionality. (PMID: 19509288) Wang D.D. … Lee W.H. (J. Biol. Chem. 2009) 3 4 23

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