Upf1 MGI Mouse Gene Detail - MGI:107995 - UPF1 RNA helicase and ATPase

Symbol

Upf1
Name

UPF1 RNA helicase and ATPase
Synonyms

B430202H16Rik, PNORF-1, Rent1

Feature Type

protein coding gene
IDs

MGI:107995
NCBI Gene: 19704
Alliance

genome feature page
Transcription Start Sites

2 TSS

Sequence Map

Chr8:70784175-70805928 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 8, 34.15 cM
Mapping Data

5 experiments

SNPs within 2kb

326 from dbSNP Build 142
Strain Annotations

19
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_107995	protein coding gene	Chr8:70784143-70806418 (-)
129S1/SvImJ	ENSMUSG00200030418	protein coding gene	Chr8:65581369-65603277 (-)
A/J	ENSMUSG00195013219	protein coding gene	Chr8:65914991-65936744 (-)
AKR/J	ENSMUSG00220021978	protein coding gene	Chr8:65826809-65848718 (-)
BALB/cJ	ENSMUSG00180025471	protein coding gene	Chr8:65557762-65579670 (-)
C3H/HeJ	ENSMUSG00175021404	protein coding gene	Chr8:65837717-65859626 (-)
C57BL/6NJ	ENSMUSG00215031866	protein coding gene	Chr8:65517489-65539242 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0031142	protein coding gene	Chr8:62541213-62562974 (-)
CAST/EiJ	ENSTCUG00005035966	protein coding gene	Chr8:65313703-65335451 (-)
CBA/J	ENSMUSG00210031967	protein coding gene	Chr8:65603279-65625187 (-)
DBA/2J	ENSMUSG00185010498	protein coding gene	Chr8:71762897-71784805 (-)
FVB/NJ	ENSMUSG00205024044	protein coding gene	Chr8:65107496-65129406 (-)
JF1/MsJ	ENSUMUG00000031423	protein coding gene	Chr8:74043400-74065155 (-)
LP/J	ENSMUSG00230032435	protein coding gene	Chr8:75374459-75396366 (-)
NOD/ShiLtJ	ENSMUSG00190021269	protein coding gene	Chr8:65524632-65546385 (-)
NZO/HlLtJ	ENSMUSG00225048031	protein coding gene	Chr8:78783606-78805514 (-)
PWK/PhJ	ENSLUMG00010032450	protein coding gene	Chr8:65500979-65522727 (-)
SPRET/EiJ	ENSMSPG00010033262	protein coding gene	Chr8:67192230-67212836 (-)
WSB/EiJ	ENSIUOG00005023419	protein coding gene	Chr8:66394317-66416235 (-)

Human Ortholog

UPF1, UPF1 RNA helicase and ATPase

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

UPF1, UPF1 RNA helicase and ATPase
Synonyms

HUPF1, NORF1, pNORF1, RENT1, smg-2, UTF
Links

HGNC:9962

NCBI Gene ID: 5976

UniProt: Q92900
Chr Location

19p13.11; chr19:18831905-18868232 (+) GRCh38

MGI Vertebrate Homology

Upf1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: UPF1
Gene Tree

Upf1

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Phenotype Summary

4 phenotypes from 1 allele in 1 genetic background
12 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

18
Chemically induced (other)

1
Endonuclease-mediated

6
Gene trapped

8
Targeted

2
Transgenic

1
Genomic Mutations

1 involving Upf1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

56 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a targeted null mutation are viable in the pre-implantation period but resorb in the early post-implantation period.

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All GO Annotations

102
GO References

14

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

606
Tissues

8
cDNA Data

10
Literature Summary

5

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase upf1

ZFIN upf1

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All Sequences

49
RefSeq

8
UniProt

1
CCDS

CCDS52572.1, CCDS90409.1

Ensembl

ENSMUSG00000058301 (Evidence)
NCBI Gene

19704

			Length	Strain/Species	Flank
genomic	ENSMUSG00000058301	Ensembl Gene Model \| MGI Sequence Detail	21754	C57BL/6J	± kb
transcript	ENSMUST00000075666	Ensembl \| MGI Sequence Detail	4618	Not Applicable
polypeptide	ENSMUSP00000075089	Ensembl \| MGI Sequence Detail	1124	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000017108 regulator of nonsense transcripts 1

(term hierarchy)
EC

5.6.2.3, 5.6.2.5
InterPro Domains

IPR041677 DNA2/NAM7 helicase, helicase domain

IPR041679 DNA2/NAM7 helicase-like, C-terminal

IPR045055 DNA2/NAM7-like helicase

IPR006935 Helicase/UvrB, N-terminal

IPR027417 P-loop containing nucleoside triphosphate hydrolase

IPR040812 RNA helicase UPF1, 1B domain

IPR018999 RNA helicase UPF1, Cys/His rich zinc-binding domain

IPR047187 Upf1-like, C-terminal helicase domain
GlyGen

Q9EPU0 5 sites, 2 N-linked glycans (2 sites), 1 O-linked glycan (3 sites)

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All nucleic 15

cDNA 13

Primer pair 2

Antibodies 1

Microarray probesets 3

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MGD-MRK-36575, MGI:2441858

Summaries

All 66

Developmental Gene Expression 5

Gene Ontology 14

Phenotypes 12
Earliest

J:35791 Perlick HA, et al., Mammalian orthologues of a yeast regulator of nonsense transcript stability. Proc Natl Acad Sci U S A. 1996 Oct 1;93(20):10928-32
Latest

J:366355 Iwai N, et al., UPF1 plays critical roles in early B cell development. Nat Commun. 2024 Jul 9;15(1):5765

TSS for Upf1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr81610	Chr8:70805893-70805986 (-)	-12 bp
Tssr81609	Chr8:70784590-70784594 (-)	21,336 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 09/08/2026 MGI 6.24