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Pnpt1
Gene Detail
 Symbol
Name
ID
Pnpt1
polyribonucleotide nucleotidyltransferase 1
MGI:1918951
Synonyms 1200003F12Rik, PNPase, polynucleotide phosphorylase
Feature Type protein coding gene
Genetic Map
Chromosome 11
16.46 cM, cytoband A4
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr11:29130744-29161828 bp, + strand
From VEGA annotation of GRCm38

  31085 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:12404  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken

Protein SuperFamily: polyribonucleotide nucleotidyltransferase
Gene Tree: Pnpt1

Human
homologs
Human Homolog PNPT1, polyribonucleotide nucleotidyltransferase 1
NCBI Gene ID 87178
neXtProt AC  NX_Q8TCS8
Human Synonyms  COXPD13, DFNB70, old-35, OLD35, PNPASE
Human Chr (Location)  2p15; chr2:55634063-55693910 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human PNPT1
Alleles
and
phenotypes
All alleles(6) : Targeted(5) Gene trapped(1)
 
Mice homozygous for a knock-out allele exhibit embryonic lethality and impaired mitochondrial RNA import.
 
Gene Ontology
(GO)
classifications
All GO classifications: (49 annotations)
Process cellular response to interferon-beta, cellular response to oxidative stress, ...
Component cytoplasm, membrane, ...
Function 3'-5'-exoribonuclease activity, exonuclease activity, ...
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (22)    Tissues (22)    Images (4)
Theiler Stages: 21, 28
Assay TypeResults
RNA in situ 20
RT-PCR 2
cDNA source data(103)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(104) cDNA(103) Primer pair(1)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000005318 (Evidence)
Ensembl Gene ModelENSMUSG00000020464 (Evidence)
Entrez Gene71701 (Evidence)
UniGene211131
DFCITC1575492, TC1594517, TC1616664, TC1693698
DoTSDT.530926, DT.94198329, DT.99843987
NIA Mouse Gene IndexU012401
EC2.7.7.8
PDB1WHU
Consensus CDS ProjectCCDS24490.1
International Mouse Knockout Project StatusPnpt1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000005318 VEGA Gene Model | MGI Sequence Detail 31085 C57BL/6J ±  kb
transcript OTTMUST00000011847 VEGA | MGI Sequence Detail 2707 Not Applicable 
polypeptide OTTMUSP00000005486 VEGA | MGI Sequence Detail 783 Not Applicable 

For the selected sequences
All sequences(47) RefSeq(5) UniProt(4)
Polymorphisms SNPs within 2kb(305 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001247 Exoribonuclease, phosphorolytic domain 1
InterPro IPR015847 Exoribonuclease, phosphorolytic domain 2
InterPro IPR004087 K Homology domain
InterPro IPR004088 K Homology domain, type 1
InterPro IPR012340 Nucleic acid-binding, OB-fold
InterPro IPR027408 PNPase/RNase PH domain
InterPro IPR015848 Polynucleotide phosphorylase, phosphorolytic RNA-binding, bacterial/organelle-type
InterPro IPR012162 Polyribonucleotide nucleotidyltransferase
InterPro IPR003029 Ribosomal protein S1, RNA-binding domain
InterPro IPR020568 Ribosomal protein S5 domain 2-type fold
InterPro IPR022967 RNA-binding domain, S1
Protein Ontology PR:000012950 polyribonucleotide nucleotidyltransferase 1, mitochondrial
References (Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:203662 von Ameln S, et al., A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss. Am J Hum Genet. 2012 Nov 2;91(5):919-27
All references(38)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory