PNPT1

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 VIEW

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PNPT1-001
 
PNPT1-201
 
 
 
 
 

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