Homo sapiens Gene: PNPT1
Summary
InnateDB Gene IDBG-52626.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PNPT1
Gene Name polyribonucleotide nucleotidyltransferase 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000138035
Encoded Proteins
polyribonucleotide nucleotidyltransferase 1
polyribonucleotide nucleotidyltransferase 1
polyribonucleotide nucleotidyltransferase 1
polyribonucleotide nucleotidyltransferase 1
polyribonucleotide nucleotidyltransferase 1
polyribonucleotide nucleotidyltransferase 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:55634063-55693910
Strand Reverse strand
Band p16.1
Transcripts
ENST00000260604 ENSP00000260604
ENST00000447944 ENSP00000400646
ENST00000415374 ENSP00000393953
ENST00000415489 ENSP00000411057
ENST00000429805 ENSP00000411994
ENST00000481066
ENST00000619878 ENSP00000480794
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.
Experimentally validated
Total 18 [view]
Protein-Protein 18 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0000175 3'-5'-exoribonuclease activity
GO:0003676 nucleic acid binding
GO:0003723 RNA binding
GO:0004654 polyribonucleotide nucleotidyltransferase activity
GO:0005515 protein binding
GO:0008266 poly(U) RNA binding
GO:0034046 poly(G) binding
GO:0035198 miRNA binding
GO:0044822 poly(A) RNA binding
Biological Process
GO:0000957 mitochondrial RNA catabolic process
GO:0000958 mitochondrial mRNA catabolic process
GO:0000962 positive regulation of mitochondrial RNA catabolic process
GO:0000964 mitochondrial RNA 5'-end processing
GO:0000965 mitochondrial RNA 3'-end processing
GO:0006396 RNA processing
GO:0006401 RNA catabolic process
GO:0006402 mRNA catabolic process
GO:0034599 cellular response to oxidative stress
GO:0035458 cellular response to interferon-beta
GO:0035927 RNA import into mitochondrion
GO:0035928 rRNA import into mitochondrion
GO:0043457 regulation of cellular respiration
GO:0043631 RNA polyadenylation
GO:0045926 negative regulation of growth
GO:0051260 protein homooligomerization
GO:0061014 positive regulation of mRNA catabolic process
GO:0070207 protein homotrimerization
GO:0070584 mitochondrion morphogenesis
GO:0071042 nuclear polyadenylation-dependent mRNA catabolic process
GO:0071850 mitotic cell cycle arrest
GO:0090503 RNA phosphodiester bond hydrolysis, exonucleolytic
GO:0097222 mitochondrial mRNA polyadenylation
GO:2000627 positive regulation of miRNA catabolic process
GO:2000772 regulation of cellular senescence
Cellular Component
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005758 mitochondrial intermembrane space
GO:0016020 membrane
GO:0045025 mitochondrial degradosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Purine metabolism pathway
Pyrimidine metabolism pathway
RNA degradation pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.388733 Hs.639774 Hs.673273
RefSeq NM_033109 XM_005264629
HUGO
OMIM
CCDS CCDS1856
HPRD 18493
IMGT
EMBL
GenPept
RNA Seq Atlas