PNPT1 - polyribonucleotide nucleotidyltransferase 1 Gene

Homo sapiens

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

Gene ID: 87178 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10801	PNPT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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