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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 cytosol; mitochondrial degradosome; and mitochondrial intermembrane space. Implicated in autosomal recessive nonsyndromic deafness 70 and combined oxidative phosphorylation deficiency 13.
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)
Chlorocebus sabaeus (African green monkey) : PNPT1 (polyribonucleotide nucleotidyltransferase 1)
Heterocephalus glaber (naked mole-rat) : 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
GRCh38 Ensembl255,634,061 - 55,693,863 (-)EnsemblGRCh38hg38GRCh38
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
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Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ 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

RGD Object Information
RGD ID: 1317494
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2020-03-24
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.