PNPT1 (polyribonucleotide nucleotidyltransferase 1)

2007-02-01  

Identity

HGNC
LOCATION
2p16.1
LOCUSID
ALIAS
COXPD13,DFNB70,OLD35,PNPASE,old-35
FUSION GENES

Other Information

Locus ID:

NCBI: 87178
MIM: 610316
HGNC: 23166
Ensembl: ENSG00000138035

Variants:

dbSNP: 87178
ClinVar: 87178
TCGA: ENSG00000138035
COSMIC: PNPT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138035ENST00000260604H7BXF6
ENSG00000138035ENST00000415374Q8TCS8
ENSG00000138035ENST00000415489H7C3C5
ENSG00000138035ENST00000429805F8WBI3
ENSG00000138035ENST00000447944Q8TCS8
ENSG00000138035ENST00000625249F8WBI3

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
Purine metabolismKEGGko00230
Pyrimidine metabolismKEGGko00240
Purine metabolismKEGGhsa00230
Pyrimidine metabolismKEGGhsa00240
RNA degradationKEGGko03018
RNA degradationKEGGhsa03018

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
206919042010PNPASE regulates RNA import into mitochondria.111
169663812006Mammalian polynucleotide phosphorylase is an intermembrane space RNase that maintains mitochondrial homeostasis.64
232216312013Human mitochondrial RNA decay mediated by PNPase-hSuv3 complex takes place in distinct foci.53
195092882009Human mitochondrial SUV3 and polynucleotide phosphorylase form a 330-kDa heteropentamer to cooperatively degrade double-stranded RNA with a 3'-to-5' directionality.43
169663792006A new function in translocation for the mitochondrial i-AAA protease Yme1: import of polynucleotide phosphorylase into the intermembrane space.41
180838372008Stable PNPase RNAi silencing: its effect on the processing and adenylation of human mitochondrial RNA.40
205478612010Human polynucleotide phosphorylase selectively and preferentially degrades microRNA-221 in human melanoma cells.37
124737482002Identification and cloning of human polynucleotide phosphorylase, hPNPase old-35, in the context of terminal differentiation and cellular senescence.33
127986762003Human polynucleotide phosphorylase, hPNPase, is localized in mitochondria.31
230842912012Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency.30

Citation

Dessen P

PNPT1 (polyribonucleotide nucleotidyltransferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45812/pnpt1