Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
87178
Gene name Gene Name - the full gene name approved by the HGNC.
Polyribonucleotide nucleotidyltransferase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PNPT1
Synonyms (NCBI Gene) Gene synonyms aliases
COXPD13, DFNB70, OLD35, PNPASE, SCA25, old-35
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p16.1
Summary Summary of gene provided in NCBI Entrez 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 t
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610316 23166 ENSG00000138035
Protein
UniProt ID 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  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Combined Oxidative Phosphorylation Deficiency combined oxidative phosphorylation defect type 13 rs746356243, rs1559114055, rs752550279, rs397514598, rs1559094461, rs1365308037, rs1049082567, rs143712760, rs780383722, rs863225449, rs879255657, rs778100619 N/A
Deafness Autosomal recessive nonsyndromic hearing loss 70 rs397514599 N/A
Spinocerebellar Ataxia spinocerebellar ataxia type 25 rs748445058 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis N/A N/A GWAS
Glaucoma Glaucoma N/A N/A GWAS
Hearing Loss hearing loss disorder N/A N/A GenCC
Hypothyroidism Hypothyroidism N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alcoholic Neuropathy Associate 27759031
Anemia Pernicious Associate 34145262
Ataxia Associate 35411967
Carcinoma Hepatocellular Associate 36232701, 37400627, 39522317
Carcinoma Non Small Cell Lung Associate 39788504
Chorioretinitis Associate 25457163
Disease Associate 27759031
Eye Abnormalities Associate 25457163
Hearing Loss Associate 34194829
Hearing Loss Sensorineural Associate 25457163