PNPT1 - polyribonucleotide nucleotidyltransferase 1 Gene

Also Known as OLD35; SCA25; DFNB70; PNPASE; old-35; COXPD13

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 87178

About PNPT1

Cytogenetic location: 2p16.1 Genomic coordinates (GRCh38): 2:55,634,061-55,693,844 (from NCBI)

Ubiquitous expression in thyroid (RPKM 6.2), testis (RPKM 5.9) and 25 other tissues.

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 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]

PNPT1 Products (1)

mRNA	Protein	Name
NM_033109.5	NP_149100.2	polyribonucleotide nucleotidyltransferase 1, mitochondrial precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables 3'-5'-RNA exonuclease activity	IDA IDA: Inferred from direct assay	19509288	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	19509288	GOA
enables miRNA binding	IDA IDA: Inferred from direct assay	20547861	GOA
enables poly(G) binding	IDA IDA: Inferred from direct assay	18083836	GOA
enables poly(U) RNA binding	IDA IDA: Inferred from direct assay	18083836	GOA
enables polyribonucleotide nucleotidyltransferase activity	IDA IDA: Inferred from direct assay	18083836	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16934922	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in RNA catabolic process	IDA IDA: Inferred from direct assay	18083836	GOA
involved in RNA import into mitochondrion	IDA IDA: Inferred from direct assay	20691904	GOA
involved in cellular response to interferon-beta	IDA IDA: Inferred from direct assay	16410805	GOA
involved in cellular response to oxidative stress	IDA IDA: Inferred from direct assay	18501193	GOA
involved in mRNA catabolic process	IDA IDA: Inferred from direct assay	12721301	GOA
involved in mitochondrial RNA 3'-end processing	IMP IMP: Inferred from mutant phenotype	18083837	GOA
involved in mitochondrial RNA 5'-end processing	IMP IMP: Inferred from mutant phenotype	18083837	GOA
involved in mitochondrial RNA catabolic process	IDA IDA: Inferred from direct assay	18501193	GOA
involved in mitochondrial mRNA catabolic process	IDA IDA: Inferred from direct assay	20691904	GOA
involved in mitochondrial mRNA polyadenylation	IMP IMP: Inferred from mutant phenotype	18083837	GOA
involved in negative regulation of growth	IDA IDA: Inferred from direct assay	12721301	GOA
involved in nuclear polyadenylation-dependent mRNA catabolic process	IDA IDA: Inferred from direct assay	16934922	GOA
involved in positive regulation of mRNA catabolic process	IMP IMP: Inferred from mutant phenotype	16410805	GOA
involved in positive regulation of miRNA catabolic process	IDA IDA: Inferred from direct assay	20547861	GOA
involved in positive regulation of mitochondrial RNA catabolic process	IDA IDA: Inferred from direct assay	19509288	GOA
involved in protein homooligomerization	IDA IDA: Inferred from direct assay	20691904	GOA
involved in protein homotrimerization	IDA IDA: Inferred from direct assay	19509288	GOA
involved in rRNA import into mitochondrion	IDA IDA: Inferred from direct assay	20691904	GOA
involved in regulation of cell cycle	IDA IDA: Inferred from direct assay	12721301	GOA
involved in regulation of cellular senescence	IDA IDA: Inferred from direct assay	16055741	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	16055741	GOA
part of mitochondrial degradosome	IDA IDA: Inferred from direct assay	19509288	GOA
located in mitochondrial intermembrane space	IDA IDA: Inferred from direct assay	16966381	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	16055741	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PNPT1 Protein Structure

RNase_PH

RNase_PH_C

PNPase

RNase_PH

RNase_PH_C

KH_1

0
200
400
600
783 a.a.

Protein Preferred Names	Protein Names
polyribonucleotide nucleotidyltransferase 1, mitochondrial	3'-5' RNA exonuclease OLD35

PNPT1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PNPT1	Q8TCS8	SUPV3L1	Homo sapiens	Q8IYB8	Anti Tag CoIP	33961781
Intra	PNPT1	Q8TCS8	PNPT1	Homo sapiens	Q8TCS8	Solution Sedimentation	19509288
Intra	PNPT1	Q8TCS8	SUPV3L1	Homo sapiens	Q8IYB8	Pull Down	19509288
Intra	PNPT1	Q8TCS8	PNPT1	Homo sapiens	Q8TCS8	Chromatography	19509288

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Combined Oxidative Phosphorylation Deficiency 13	COXPD13 Combined Oxidative Phosphorylation Defect Type 13 Combined Oxidative Phosphorylation Deficiency, Type 13
Spinocerebellar Ataxia 25	Spinocerebellar Ataxia Type 25 SCA25
Deafness, Autosomal Recessive 70, With Or Without Adult-Onset Neurodegeneration	DFNB70 Deafness, Autosomal Recessive, 70
Autosomal Recessive Nonsyndromic Deafness 70	Deafness, Autosomal Recessive 70 Autosomal Recessive Deafness 70 Dfnb70 Deafness, Autosomal Recessive, Type 70
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
Combined Oxidative Phosphorylation Deficiency
Spastic Paraplegia 25, Autosomal Recessive	SPG25 Hereditary Spastic Paraplegia 25 Autosomal Recessive Spastic Paraplegia Type 25 Spastic Paraplegia 25 Disc Herniation With Spastic Paraplegia, Autosomal Recessive Autosomal Recessive Spastic Paraplegia 25 Spinal Disc Herniation With Autosomal Recessive Spastic Paraplegia Autosomal Recessive Spastic Paraplegia-Disc Herniation Syndrome
Mitochondrial Dna Depletion Syndrome 5	Succinate-Coa Ligase Deficiency Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria MTDPS5 Booth-Haworth-Dilling Syndrome Mtdna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Or Without Methylmalonic Aciduria, Autosomal Recessive, Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Mitochondrial Dna Depletion Syndrome-5 Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria, Autosomal Recessive Mitochondrial Encephalomyopathy Aminoacidopathy Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Mild Methylmalonic Aciduria Mitochondrial Dna Depletion, Encephalomyopathic Form, With Methylmalonic Aciduria Succinate-Coenzyme A Ligase Deficiency Mitochondrial Encephalomyopathy-Aminoacidopathy Syndrome Encephalomyopathic Mitochondrial Dna Depletion Syndrome With Or Without Methylmalonic Aciduria Mitochondrial Dna Depletion Syndrome 5 Encephalomyopathic With Or Without Methylmalonic Aciduria Mitochondrial Dna Depletion Syndrome Encephalomyopathic Form With Or Without Methylmalonic Aciduria Autosomal Recessive Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive Mitochondrial Dna Depletion Syndrome, Type 5
Developmental And Epileptic Encephalopathy 7	Epileptic Encephalopathy, Early Infantile, 7 DEE7 Eiee7 Kcnq2-Related Epileptic Encephalopathy Kcnq2-Related Neonatal Epileptic Encephalopathy Developmental And Epileptic Encephalopathy, 7 Early Infantile Epileptic Encephalopathy 7 Kcnq2-Nee Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile, Type 7 Early Infantile Epileptic Encephalopathy With Suppression Bursts
Deafness, Autosomal Recessive 84a	DFNB84A Deafness, Autosomal Recessive 84 Autosomal Recessive Nonsyndromic Deafness 84a Dfnb84 Deafness, Autosomal Recessive 84a, With Vestibular Dysfunction Autosomal Recessive Deafness 84a Autosomal Recessive Deafness 84a With Vestibular Dysfunction Deafness, Autosomal Recessive, 84a Deafness Autosomal Recessive 84 Deafness Autosomal Recessive 84a With Vestibular Dysfunction Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 84 Deafness, Autosomal Recessive, Type 84a
Combined Oxidative Phosphorylation Deficiency 1	Hepatoencephalopathy Due To Combined Oxidative Phosphorylation Defect Type 1 COXPD1 Early Fatal Progressive Hepatoencephalopathy Hepatoencephalopathy Due To Coxpd1 Combined Oxidative Phosphorylation Deficiency, Type 1 Hepatoencephalopathy, Early Fatal Progressive Hepatoencephalopathy Early Fatal Progressive
Autosomal Recessive Nonsyndromic Deafness	Deafness, Autosomal Recessive, Nonsyndromic
Melanoma	Malignant Melanoma Cutaneous Melanoma Naevocarcinoma Malignant Melanomas
Aicardi-Goutieres Syndrome	Aicardi Goutieres Syndrome Cree Encephalitis Aicardi-Goutières Syndrome Encephalopathy With Basal Ganglia Calcification Ags Encephalopathy With Intracranial Calcification And Chronic Lymphocytosis Of Cerebrospinal Fluid Pseudotoxoplasmosis Syndrome Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis Familial Infantile Encephalopathy With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis Aicardi-Goutieres Syndrome 1
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Leigh Syndrome	Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency LS Sne Leigh'S Disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Subacute Necrotizing Encephalomyelopathy Necrotizing Encephalopathy Infantile Subacute Of Leigh Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency Infantile Necrotizing Encephalomyelopathy Juvenile Subacute Necrotizing Encephalomyelopathy Leigh'S Necrotizing Encephalopathy Subacute Necrotizing Encephalopathy Juvenile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency Leigh Syndrome Due To Mitochondrial Complex V Deficiency Encephalopathy, Subacute Necrotizing, Infantile Encephalopathy, Subacute Necrotizing, Juvenile Maternally Inherited Leigh Syndrome Subacute Necrotising Encephalomyelopathy Subacute Necrotising Encephalopathy
Spastic Ataxia	Spax Ataxia, Spastic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10801	PNPT1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21028	Pnpt1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27545	Pnpt1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P991956	ABB071	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	PNPT1	VGNC	VGNC:33097
Mus musculus	PNPT1	MGD	MGI:1918951
Felis catus	PNPT1	VGNC	VGNC:64270
Rattus norvegicus	PNPT1	RGD	RGD:1307987
Canis familiaris	PNPT1	VGNC	VGNC:44760
Macaca mulatta	PNPT1	VGNC	VGNC:76095
Others	PNPT1	NCBI