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Gene: PNPT1 (polyribonucleotide nucleotidyltransferase 1) Homo sapiens
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Symbol: PNPT1
Name: polyribonucleotide nucleotidyltransferase 1
Description: Exhibits 3'-5'-exoribonuclease activity; RNA binding activity; and polyribonucleotide nucleotidyltransferase activity. Involved in several processes, including RNA metabolic process; cellular response to interferon-beta; and positive regulation of cellular catabolic process. Localizes to the cytosol; mitochondrial degradosome; and mitochondrial intermembrane space. Implicated in autosomal recessive nonsyndromic deafness 70 and combined oxidative phosphorylation deficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 3'-5' RNA exonuclease OLD35; COXPD13; DFNB70; DKFZp762K1914; old-35; OLD35; PNPASE; PNPase 1; PNPase old-35; polynucleotide phosphorylase 1; polynucleotide phosphorylase-like protein; polyribonucleotide nucleotidyltransferase 1, mitochondrial
Orthologs:
Mus musculus (house mouse) : Pnpt1 (polyribonucleotide nucleotidyltransferase 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Pnpt1 (polyribonucleotide nucleotidyltransferase 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Pnpt1 (polyribonucleotide nucleotidyltransferase 1)
Pan paniscus (bonobo/pygmy chimpanzee) : PNPT1 (polyribonucleotide nucleotidyltransferase 1)
Canis lupus familiaris (dog) : PNPT1 (polyribonucleotide nucleotidyltransferase 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Pnpt1 (polyribonucleotide nucleotidyltransferase 1)
Sus scrofa (pig) : PNPT1 (polyribonucleotide nucleotidyltransferase 1)
more info ...
Related Pseudogenes: PNPT1P1   PNPT1P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38255,634,061 - 55,693,853 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37255,861,198 - 55,921,045 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36255,715,956 - 55,774,463 (-)NCBINCBI36hg18NCBI36
Build 34255,774,117 - 55,832,610NCBI
Celera255,701,589 - 55,761,360 (-)NCBI
Cytogenetic Map2p16.1NCBI
HuRef255,596,276 - 55,655,947 (-)NCBIHuRef
CHM1_1255,791,555 - 55,851,305 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on PNPT1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1317494
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-10-16
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.