Gene Gene information from NCBI Gene database.
Entrez ID 87178
Gene name Polyribonucleotide nucleotidyltransferase 1
Gene symbol PNPT1
Synonyms (NCBI Gene)
COXPD13DFNB70OLD35PNPASESCA25old-35
Chromosome 2
Chromosome location 2p16.1
Summary 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 t
SNPs SNP information provided by dbSNP.
22
SNP ID Visualize variation Clinical significance Consequence
rs34928857 C>G Uncertain-significance, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant, non coding transcript variant
rs143712760 C>A Uncertain-significance, likely-pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs146571352 C>T Likely-pathogenic, not-provided, uncertain-significance Missense variant, coding sequence variant, non coding transcript variant
rs151166046 G>A Conflicting-interpretations-of-pathogenicity Non coding transcript variant, missense variant, coding sequence variant
rs200088200 G>C Likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
615
miRTarBase ID miRNA Experiments Reference
MIRT020848 hsa-miR-155-5p Proteomics 18668040
MIRT706636 hsa-miR-6838-3p HITS-CLIP 21572407
MIRT706635 hsa-miR-4781-3p HITS-CLIP 21572407
MIRT706634 hsa-miR-370-3p HITS-CLIP 21572407
MIRT706633 hsa-miR-6893-3p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
71
GO ID Ontology Definition Evidence Reference
GO:0000175 Function 3'-5'-RNA exonuclease activity IBA
GO:0000175 Function 3'-5'-RNA exonuclease activity IDA 19509288
GO:0000175 Function 3'-5'-RNA exonuclease activity TAS
GO:0000957 Process Mitochondrial RNA catabolic process IDA 18501193, 29967381, 39019044
GO:0000957 Process Mitochondrial RNA catabolic process TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610316 23166 ENSG00000138035
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TCS8
Protein name Polyribonucleotide nucleotidyltransferase 1, mitochondrial (EC 2.7.7.8) (3'-5' RNA exonuclease OLD35) (PNPase old-35) (Polynucleotide phosphorylase 1) (PNPase 1) (Polynucleotide phosphorylase-like protein)
Protein function RNA-binding protein implicated in numerous RNA metabolic processes (PubMed:29967381, PubMed:39019044). Catalyzes the phosphorolysis of single-stranded polyribonucleotides processively in the 3'-to-5' direction (PubMed:29967381, PubMed:39019044).
PDB 3U1K , 5ZF6 , 9KJR , 9KJT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01138 RNase_PH 52 183 Domain
PF03725 RNase_PH_C 186 251 Domain
PF03726 PNPase 282 363 Polyribonucleotide nucleotidyltransferase, RNA binding domain Domain
PF01138 RNase_PH 366 501 Domain
PF00013 KH_1 607 666 KH domain Domain
PF00575 S1 675 750 S1 RNA binding domain Domain
Sequence
Sequence length 783
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  RNA degradation  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
59
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autosomal recessive nonsyndromic hearing loss 70 Pathogenic; Likely pathogenic rs1696930196, rs1478363532, rs35239216, rs991366882, rs143712760, rs397514599, rs1049082567 RCV001336838
RCV001336835
RCV002265053
RCV002283958
RCV001089488
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Combined oxidative phosphorylation defect type 13 Likely pathogenic; Pathogenic rs1695931094, rs2104038061, rs1329170892, rs775717775, rs143712760, rs780383722, rs863225449, rs879255657, rs778100619, rs755065532, rs397514598, rs746356243, rs1559114055, rs752550279, rs1559094461
View all (2 more)
RCV001332754
RCV002274863
RCV002472030
RCV002472072
RCV000680151
View all (12 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Global developmental delay Likely pathogenic; Pathogenic rs992877769 RCV002463864
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder Likely pathogenic; Pathogenic rs143712760, rs1572834021 RCV000787360
RCV000787359
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Adrenocortical carcinoma, hereditary Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 24729470
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 24729470
★☆☆☆☆
Found in Text Mining only
Anemia Pernicious Pernicious anemia Pubtator 34145262 Associate
★☆☆☆☆
Found in Text Mining only
Ataxia Ataxia Pubtator 35411967 Associate
★☆☆☆☆
Found in Text Mining only
Autosomal recessive non-syndromic sensorineural deafness type DFNB Non-Syndromic Sensorineural Deafness Orphanet
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 36232701, 37400627, 39522317 Associate
★☆☆☆☆
Found in Text Mining only
Cataract Cataract HPO_DG
★☆☆☆☆
Found in Text Mining only
Cerebellar Ataxia Cerebellar ataxia Pubtator 35411967 Associate
★☆☆☆☆
Found in Text Mining only
Choreoathetosis Choreoathetosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Chronic Obstructive Airway Disease Chronic Obstructive Pulmonary Disease BEFREE 24729470
★☆☆☆☆
Found in Text Mining only