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 assoc... See more...

Aliases for PNPT1 Gene

Aliases for PNPT1 Gene

  • Polyribonucleotide Nucleotidyltransferase 1 2 3 5
  • Polyribonucleotide Nucleotidyltransferase 1, Mitochondrial 3 4
  • 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 52
  • PNPase 1 3 4
  • PNPASE 3 4
  • Deafness, Autosomal Recessive 70 2
  • Polynucleotide Phosphorylase 2
  • 3'-5' RNA Exonuclease 2
  • EC 2.7.7 52
  • COXPD13 3
  • Old-35 3
  • DFNB70 3
  • OLD35 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
  • GC02M055596

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 Deadenylation-dependent mRNA decay. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding.

UniProtKB/Swiss-Prot Summary 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. Involved in the degradation of non-coding mitochondrial transcripts (MT-ncRNA) and tRNA-like molecules (PubMed:29967381). 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.

Additional gene information for PNPT1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PNPT1 Gene

Genomics for PNPT1 Gene

GeneHancer (GH) Regulatory Elements for PNPT1 Gene

Promoters and enhancers for PNPT1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PNPT1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PNPT1

Top Transcription factor binding sites by QIAGEN in the PNPT1 gene promoter:
  • AREB6
  • Evi-1
  • FOXJ2
  • FOXJ2 (long isoform)
  • GATA-1
  • Lhx3a
  • LHX3b
  • POU2F1
  • POU2F1a
  • RFX1

Genomic Locations for PNPT1 Gene

Genomic Locations for PNPT1 Gene
chr2:55,634,061-55,693,910
(GRCh38/hg38)
Size:
59,850 bases
Orientation:
Minus strand
chr2:55,861,198-55,921,045
(GRCh37/hg19)
Size:
59,848 bases
Orientation:
Minus strand

Genomic View for PNPT1 Gene

Genes around PNPT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PNPT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 (PubMed:19509288). Homooligomer (PubMed:19509288). Component of the mitochondrial degradosome (mtEXO) complex which is a heteropentamer containing 2 copies of SUPV3L1 and 3 copies of PNPT1 (PubMed:19509288, PubMed:29967381). As part of the mitochondrial degradosome complex, interacts with GRSF1 in an RNA-dependent manner; the interaction enhances the activity of the complex (PubMed:29967381). Interacts with TCL1A; the interaction has no effect on PNPT1 exonuclease activity (PubMed:16934922).

    Three dimensional structures from OCA and Proteopedia for PNPT1 Gene

neXtProt entry for PNPT1 Gene

Selected DME Specific Peptides for PNPT1 Gene

Q8TCS8:
  • LESNGSSS
  • RQKAAAAG
  • SNGSSSMA
  • IDRSIRP

Post-translational modifications for PNPT1 Gene

  • Ubiquitination at Lys591
  • Modification sites at PhosphoSitePlus

Domains & Families for PNPT1 Gene

Gene Families for PNPT1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PNPT1 Gene

GenScript: Design optimal peptide antigens:
  • Polynucleotide phosphorylase-like protein (PNPT1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TCS8

UniProtKB/Swiss-Prot:

PNPT1_HUMAN :
  • Belongs to the polyribonucleotide nucleotidyltransferase family.
Family:
  • Belongs to the polyribonucleotide nucleotidyltransferase family.
genes like me logo Genes that share domains with PNPT1: view

Function for PNPT1 Gene

Molecular function for PNPT1 Gene

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. Involved in the degradation of non-coding mitochondrial transcripts (MT-ncRNA) and tRNA-like molecules (PubMed:29967381). 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 CatalyticActivity:
Reaction=phosphate + RNA(n+1) = a ribonucleoside 5'-diphosphate + RNA(n); Xref=Rhea:RHEA:22096, Rhea:RHEA-COMP:11128, Rhea:RHEA-COMP:11129, ChEBI:CHEBI:43474, ChEBI:CHEBI:57930, ChEBI:CHEBI:83400; EC=2.7.7.8;.
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

Phenotypes From GWAS Catalog 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 IEA --
GO:0003723 RNA binding IEA,HDA 22681889
GO:0004518 nuclease activity IEA --
GO:0004527 exonuclease activity IEA --
genes like me logo Genes that share ontologies with PNPT1: view
genes like me logo Genes that share phenotypes with PNPT1: view

Human Phenotype Ontology for PNPT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PNPT1 Gene

MGI Knock Outs for PNPT1:
  • Pnpt1 Pnpt1<tm1.1Teit>
  • Pnpt1 Pnpt1<tm1a(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PNPT1

Clone Products

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

Localization for PNPT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PNPT1 Gene

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

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PNPT1 gene
Compartment Confidence
mitochondrion 5
cytosol 5
nucleus 3
endoplasmic reticulum 3
extracellular 2
plasma membrane 1
cytoskeleton 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PNPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IDA,IEA 16055741
GO:0005739 mitochondrion IBA,IDA 16055741
GO:0005758 mitochondrial intermembrane space IEA,IDA 16966381
GO:0005789 endoplasmic reticulum membrane IEA --
genes like me logo Genes that share ontologies with PNPT1: view

Pathways & Interactions for PNPT1 Gene

PathCards logo

SuperPathways for PNPT1 Gene

SuperPathway Contained pathways
1 Deadenylation-dependent mRNA decay
genes like me logo Genes that share pathways with PNPT1: view

Pathways by source for PNPT1 Gene

1 KEGG pathway 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 IBA,IDA 18501193
GO:0000958 mitochondrial mRNA catabolic process IDA,IBA 20691904
GO:0000962 positive regulation of mitochondrial RNA catabolic process IDA 19509288
GO:0000963 mitochondrial RNA processing IBA 21873635
GO:0000964 mitochondrial RNA 5'-end processing IMP 18083837
genes like me logo Genes that share ontologies with PNPT1: view

No data available for SIGNOR curated interactions for PNPT1 Gene

Drugs & Compounds for PNPT1 Gene

(7) Drugs for PNPT1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
CDP Experimental Pharma 0
Guanosine diphosphate Experimental Pharma 0
Uridine 5'-diphosphate Experimental Pharma 0

(9) Additional Compounds for PNPT1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
dTDP
  • 2'-Deoxyribosylthymine 5'-(trihydrogen diphosphate)
  • Deoxy-TDP
  • Deoxythymidine 5'-diphosphate
  • Thymidine 5'-diphosphate
  • Thymidine 5'-pyrophosphate
491-97-4
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with PNPT1: view

Transcripts for PNPT1 Gene

mRNA/cDNA for PNPT1 Gene

1 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PNPT1

Clone 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

Expression for PNPT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PNPT1 Gene

Protein differential expression in normal tissues from HIPED for PNPT1 Gene

This gene is overexpressed in Lymph node (15.4) and Adrenal (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PNPT1 Gene



Protein tissue co-expression partners for PNPT1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PNPT1

SOURCE GeneReport for Unigene cluster for PNPT1 Gene:

Hs.388733

Evidence on tissue expression from TISSUES for PNPT1 Gene

  • Skin(4.3)
  • Nervous system(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PNPT1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • middle ear
  • outer ear
  • skull
Thorax:
  • diaphragm
  • lung
Limb:
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with PNPT1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 31 30
  • 99.62 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PNPT1 31 30
  • 91.25 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PNPT1 31 30
  • 90.04 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pnpt1 30
  • 88.45 (n)
mouse
(Mus musculus)
Mammalia Pnpt1 17 31 30
  • 87.13 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PNPT1 31
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PNPT1 31
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves PNPT1 31 30
  • 77.62 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PNPT1 31
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pnpt1 30
  • 74.88 (n)
Str.3686 30
zebrafish
(Danio rerio)
Actinopterygii pnpt1 30
  • 64.2 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010791 30
  • 55.37 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG11337 31 30
  • 55.22 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea BE0003N10.1 31 30
  • 49.31 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G14580 30
  • 50.75 (n)
Species where no ortholog for PNPT1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PNPT1: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PNPT1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
635856 Likely Pathogenic: Neurodevelopmental disorder 55,683,817(-) GC/G FRAMESHIFT_VARIANT
667458 Benign: not provided 55,671,068(-) A/G INTRON_VARIANT
667459 Benign: not provided 55,646,080(-) G/A INTRON_VARIANT
668368 Likely Benign: not provided 55,643,169(-) T/G SYNONYMOUS_VARIANT
669542 Benign: not provided 55,662,331(-) G/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for PNPT1 Gene

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

Variant ID Type Subtype PubMed ID
esv22582 CNV gain 19812545
esv2759050 CNV gain 17122850
esv2760573 CNV gain 21179565
esv2762645 CNV loss 21179565
esv3575244 CNV gain 25503493
esv3590859 CNV gain 21293372
nsv442740 CNV gain 18776908
nsv514069 CNV gain 21397061
nsv520581 CNV loss 19592680
nsv834080 CNV loss 17160897
nsv9791 CNV gain 18304495
nsv9802 CNV gain 18304495

Variation tolerance for PNPT1 Gene

Residual Variation Intolerance Score: 40.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.01; 93.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PNPT1 Gene

Human Gene Mutation Database (HGMD)
PNPT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PNPT1

SNP Genotyping and Copy Number Assay Products

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

Disorders for PNPT1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for PNPT1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PNPT1 in MalaCards View complete list of genes associated with diseases

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.

Additional Disease Information for PNPT1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PNPT1: view

No data available for Genatlas for PNPT1 Gene

Publications for PNPT1 Gene

  1. 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 DD … Lee WH (The Journal of biological chemistry 2009) 3 4 23 54
  2. Stable PNPase RNAi silencing: its effect on the processing and adenylation of human mitochondrial RNA. (PMID: 18083837) Slomovic S … Schuster G (RNA (New York, N.Y.) 2008) 3 4 23 54
  3. 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 (New York, N.Y.) 2008) 3 4 23 54
  4. Mammalian polynucleotide phosphorylase is an intermembrane space RNase that maintains mitochondrial homeostasis. (PMID: 16966381) Chen HW … French SW (Molecular and cellular biology 2006) 3 4 23 54
  5. Defining the domains of human polynucleotide phosphorylase (hPNPaseOLD-35) mediating cellular senescence. (PMID: 16055741) Sarkar D … Fisher PB (Molecular and cellular biology 2005) 3 4 23 54

Products for PNPT1 Gene

Sources for PNPT1 Gene