Pnpt1 MGI Mouse Gene Detail - MGI:1918951 - polyribonucleotide nucleotidyltransferase 1

Symbol

Pnpt1
Name

polyribonucleotide nucleotidyltransferase 1
Synonyms

1200003F12Rik, PNPase, polynucleotide phosphorylase

Feature Type

protein coding gene
IDs

MGI:1918951
NCBI Gene: 71701
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr11:29080744-29111828 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 16.46 cM, cytoband A4
Mapping Data

2 experiments

SNPs within 2kb

715 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1918951	protein coding gene	Chr11:29080236-29112010 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0018103	protein coding gene	Chr11:27125194-27156144 (+)
A/J	MGP_AJ_G0018075	protein coding gene	Chr11:26135827-26168621 (+)
AKR/J	MGP_AKRJ_G0018040	protein coding gene	Chr11:26980541-27017020 (+)
BALB/cJ	MGP_BALBcJ_G0018043	protein coding gene	Chr11:26323097-26356978 (+)
C3H/HeJ	MGP_C3HHeJ_G0017857	protein coding gene	Chr11:26893953-26927400 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0018496	protein coding gene	Chr11:28097335-28128277 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016153	protein coding gene	Chr11:24782457-24814576 (+)
CAST/EiJ	MGP_CASTEiJ_G0017419	protein coding gene	Chr11:26932866-26965987 (+)
CBA/J	MGP_CBAJ_G0017831	protein coding gene	Chr11:29386446-29418857 (+)
DBA/2J	MGP_DBA2J_G0017941	protein coding gene	Chr11:25988745-26021597 (+)
FVB/NJ	MGP_FVBNJ_G0017933	protein coding gene	Chr11:25793288-25825385 (+)
LP/J	MGP_LPJ_G0018013	protein coding gene	Chr11:27377439-27410597 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017959	protein coding gene	Chr11:30438354-30483195 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018536	protein coding gene	Chr11:27090356-27125775 (+)
PWK/PhJ	MGP_PWKPhJ_G0017201	protein coding gene	Chr11:26081444-26115081 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0016996	protein coding gene	Chr11:26770179-26802256 (+)
WSB/EiJ	MGP_WSBEiJ_G0017472	protein coding gene	Chr11:26778179-26812255 (+)

Human Ortholog

PNPT1, polyribonucleotide nucleotidyltransferase 1

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PNPT1, polyribonucleotide nucleotidyltransferase 1
Synonyms

COXPD13, DFNB70, old-35, OLD35, PNPASE, SCA25
Links

HGNC:23166

NCBI Gene ID: 87178

neXtProt AC: NX_Q8TCS8

UniProt: Q8TCS8
Chr Location

2p16.1; chr2:55634061-55693863 (-) GRCh38

MGI Vertebrate Homology

Pnpt1 stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: PNPT1
Protein SuperFamily

PNPase
Gene Tree

Pnpt1

Diseases

3 with human PNPT1 associations

				Human Disease	Mouse Models
				autosomal recessive nonsyndromic deafness 70 IDs autosomal recessive nonsyndromic deafness 70 DOID:0110521 ICD10CM:H90.3 OMIM:614934
				combined oxidative phosphorylation deficiency 13 IDs combined oxidative phosphorylation deficiency 13 DOID:0111467 OMIM:614932
				spinocerebellar ataxia type 25 IDs spinocerebellar ataxia type 25 DOID:0050974 MESH:C537202 OMIM:608703

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

9 phenotypes from 3 alleles in 3 genetic backgrounds
17 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

9
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

1
Targeted

5
Genomic Mutations

1 involving Pnpt1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

42 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit embryonic lethality and impaired mitochondrial RNA import.

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All GO Annotations

86
GO References

10

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

728
Tissues

22
cDNA Data

103
Literature Summary

1

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pnpt1

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All Sequences

55
RefSeq

9
UniProt

4
CCDS

CCDS24490.1

Ensembl

ENSMUSG00000020464 (Evidence)
NCBI Gene

71701

			Length	Strain/Species	Flank
genomic	ENSMUSG00000020464	Ensembl Gene Model \| MGI Sequence Detail	31085	C57BL/6J	± kb
transcript	ENSMUST00000020756	Ensembl \| MGI Sequence Detail	2707	Not Applicable
polypeptide	ENSMUSP00000020756	Ensembl \| MGI Sequence Detail	783	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000012950 polyribonucleotide nucleotidyltransferase 1, mitochondrial

(term hierarchy)
PDB

1WHU
EC

2.7.7.8
InterPro Domains

IPR036345 Exoribonuclease, PH domain 2 superfamily

IPR001247 Exoribonuclease, phosphorolytic domain 1

IPR015847 Exoribonuclease, phosphorolytic domain 2

IPR004087 K Homology domain

IPR004088 K Homology domain, type 1

IPR036612 K Homology domain, type 1 superfamily

IPR012340 Nucleic acid-binding, OB-fold

IPR027408 PNPase/RNase PH domain superfamily

IPR012162 Polyribonucleotide nucleotidyltransferase

IPR015848 Polyribonucleotide nucleotidyltransferase, RNA-binding domain

IPR036456 Polyribonucleotide nucleotidyltransferase, RNA-binding domain superfamily

IPR020568 Ribosomal protein uS5 domain 2-type superfamily

IPR003029 S1 domain
GlyGen

Q8K1R3 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

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All nucleic 104

cDNA 103

Primer pair 1

Microarray probesets 5

Summaries

All 48

Developmental Gene Expression 1

Gene Ontology 10

Phenotypes 17
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Pnpt1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr100689	Chr11:29080733-29080757 (+)	1 bp
Tssr3453	Chr11:29080779-29080788 (+)	40 bp
Tssr100690	Chr11:29081652-29081678 (+)	921 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/19/2024 MGI 6.24