PNPT1

GENERAL INFORMATION

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Gene name

PNPT1

Gene description

Polyribonucleotide nucleotidyltransferase 1

Protein class

Disease related genes
Enzymes
Mitochondrial proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Ubiquitous cytoplasmic expression.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 3 antibodies.
HPA034602 , HPA034603 , CAB033424
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Stomach

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

PNPT1 (HGNC Symbol)

Synonyms

DFNB70, old-35, OLD35, PNPase

Description

Polyribonucleotide nucleotidyltransferase 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

2

Cytoband

p16.1

Chromosome location (bp)

55634063 - 55693910

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000138035 (version 78.38)

Entrez gene

87178

UniProt

Q8TCS8 (UniProt - Evidence at protein level)

neXtProt

NX_Q8TCS8

Antibodypedia

PNPT1 antibodies


PROTEIN BROWSER

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ENST00000447944
 
ENST00000619878
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PNPT1-001 ENSP00000400646
ENST00000447944
Q8TCS8
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Show » Show » 783 85.9 No 0
PNPT1-201 ENSP00000480794
ENST00000619878
Q8TCS8
Show all »
Show » Show » 783 85.9 No 0