Usp1 MGI Mouse Gene Detail - MGI:2385198 - ubiquitin specific peptidase 1

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Usp1 Gene Detail

Symbol

Usp1
Name

ubiquitin specific peptidase 1

Feature Type

protein coding gene
IDs

MGI:2385198
NCBI Gene: 230484
Alliance

gene page
Transcription Start Sites

7 TSS
Candidate for QTL

5 QTL

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Sequence Map

Chr4:98812047-98823780 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 45.60 cM
Mapping Data

2 experiments

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SNPs within 2kb

285 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates	Select Strains
C57BL/6J	MGI_C57BL6J_2385198	protein coding gene	Chr4:98812047-98823780 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0028476	protein coding gene	Chr4:99113833-99134420 (+)
A/J	MGP_AJ_G0028439	protein coding gene	Chr4:95682365-95694454 (+)
AKR/J	MGP_AKRJ_G0028386	protein coding gene	Chr4:97997496-98012831 (+)
BALB/cJ	MGP_BALBcJ_G0028457	protein coding gene	Chr4:95924464-95936370 (+)
C3H/HeJ	MGP_C3HHeJ_G0028170	protein coding gene	Chr4:98794398-98805868 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0028896	protein coding gene	Chr4:102886672-102903246 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026188	protein coding gene	Chr4:91063309-91075228 (+)
CAST/EiJ	MGP_CASTEiJ_G0027610	protein coding gene	Chr4:96580596-96598275 (+)
CBA/J	MGP_CBAJ_G0028139	protein coding gene	Chr4:106041356-106055460 (+)
DBA/2J	MGP_DBA2J_G0028289	protein coding gene	Chr4:95417048-95430414 (+)
FVB/NJ	MGP_FVBNJ_G0028256	protein coding gene	Chr4:94258806-94270409 (+)
LP/J	MGP_LPJ_G0028389	protein coding gene	Chr4:99443663-99456303 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0028284	protein coding gene	Chr4:111778199-111790677 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0028934	protein coding gene	Chr4:98242602-98259451 (+)
PWK/PhJ	MGP_PWKPhJ_G0027335	protein coding gene	Chr4:93557824-93570256 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0027156	protein coding gene	Chr4:95682050-95698304 (+)
WSB/EiJ	MGP_WSBEiJ_G0027688	protein coding gene	Chr4:98377527-98391752 (+)

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Human Ortholog

USP1, ubiquitin specific peptidase 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

USP1, ubiquitin specific peptidase 1
Synonyms

UBP
Links

HGNC:12607

NCBI Gene ID: 7398

neXtProt AC: NX_O94782

UniProt: O94782
Chr Location

1p31.3; chr1:62436297-62451804 (+) GRCh38

MGI Vertebrate Homology

Usp1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: USP1
Gene Tree

Usp1

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Diseases

1 with Usp1 mouse models

Human Disease

Mouse Models

Mouse gene associated with disease

IDs

View 1 model

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

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

33 phenotypes from 3 alleles in 3 genetic backgrounds
3 phenotypes from multigenic genotypes
24 phenotype references

Phenotype Overview

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

32
Chemically induced (other)

2
Endonuclease-mediated

4
Gene trapped

18
Radiation induced

1
Targeted

7
Genomic Mutations

4 involving Usp1
Incidental Mutations

APF , CvDC
Find Mice (IMSR)

47 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null mice have a high rate of postnatal lethality related to cyanosis. Male survivors are infertile while female survivors have reduced fertility. Both sexes have reduced number of gametes, are sensitive to ionizing radiation, and have decreased numbers of bone marrow cells.

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All GO Annotations

25
GO References

7

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

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

721
Tissues

6
cDNA Data

126
Literature Summary

2

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase usp1

ZFIN usp1

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All Sequences

47
RefSeq

6
UniProt

3
CCDS

CCDS18381.1

Ensembl

ENSMUSG00000028560 (Evidence)
NCBI Gene

230484

Representative Sequences				Length	Strain/Species	Flank
	genomic	230484	NCBI Gene Model \| MGI Sequence Detail	11734	C57BL/6J	± kb
	transcript	NM_001301414	RefSeq \| MGI Sequence Detail	3608	C57BL/6
	polypeptide	Q8BJQ2	UniProt \| EBI \| MGI Sequence Detail	784	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000017145 ubiquitin carboxyl-terminal hydrolase 1

(term hierarchy)
EC

3.4.19.12
InterPro Domains

IPR038765 Papain-like cysteine peptidase superfamily

IPR001394 Peptidase C19, ubiquitin carboxyl-terminal hydrolase

IPR050164 Ubiquitin carboxyl-terminal hydrolases

IPR033815 Ubiquitin specific peptidase 1

IPR018200 Ubiquitin specific protease, conserved site

IPR028889 Ubiquitin specific protease domain

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All nucleic 127

cDNA 127

Microarray probesets 5

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Summaries

All 53

Developmental Gene Expression 2

Diseases 1

Gene Ontology 7

Phenotypes 24
Earliest

J:84714 Nishijima I, et al., Two new balancer chromosomes on mouse chromosome 4 to facilitate functional annotation of human chromosome 1p. Genesis. 2003 Jul;36(3):142-8
Latest

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

TSS for Usp1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr37901	Chr4:98811165-98811174 (+)	-877 bp
Tssr37902	Chr4:98811896-98811913 (+)	-142 bp
Tssr37903	Chr4:98811961-98811980 (+)	-76 bp
Tssr37904	Chr4:98811988-98812014 (+)	-46 bp
Tssr37905	Chr4:98812052-98812079 (+)	19 bp
Tssr37906	Chr4:98812082-98812130 (+)	59 bp
Tssr37907	Chr4:98812145-98812213 (+)	132 bp

Usp1 is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Bglq4	Chr4, 33.96 cM		J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. Potential candidate genes for Tafat (80 cM) on mouse Chromosome 4 as identified by ExQuest are Ela2, Ela3b, and Dvl1 (82 cM). Chr 10 locus Ela2 exhibits 55-fold decreased expression in the pancreas of Tally Ho animals compared to C57BL/6J. For QTL Bwq1 (6.3 cM), potential candidate gene Decr1 was identified. For QTLs Triglq1 (6.5 cM) and Bglq4 (6.5 cM), potential candidate genes Ttpa, Bhmt(Chr 13), Baat(22.7 cM), and Aldob (22.3 cM) were identified. For QTLs Nidd1 (48 cM) and Dob1 (50 cM), potential candidate genes Lepr (46.7 cM), Dio1 (48.7 cM), Scp2 (52 cM), Faah (56.5 cM), and Usp1 were identified.
Dob1	Chr4, syntenic	Chr4:101574601-123127211	J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. Potential candidate genes for Tafat (80 cM) on mouse Chromosome 4 as identified by ExQuest are Ela2, Ela3b, and Dvl1 (82 cM). Chr 10 locus Ela2 exhibits 55-fold decreased expression in the pancreas of Tally Ho animals compared to C57BL/6J. For QTL Bwq1 (6.3 cM), potential candidate gene Decr1 was identified. For QTLs Triglq1 (6.5 cM) and Bglq4 (6.5 cM), potential candidate genes Ttpa, Bhmt(Chr 13), Baat(22.7 cM), and Aldob (22.3 cM) were identified. For QTLs Nidd1 (48 cM) and Dob1 (50 cM), potential candidate genes Lepr (46.7 cM), Dio1 (48.7 cM), Scp2 (52 cM), Faah (56.5 cM), and Usp1 were identified.
Nidd1	Chr4, syntenic		J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. Potential candidate genes for Tafat (80 cM) on mouse Chromosome 4 as identified by ExQuest are Ela2, Ela3b, and Dvl1 (82 cM). Chr 10 locus Ela2 exhibits 55-fold decreased expression in the pancreas of Tally Ho animals compared to C57BL/6J. For QTL Bwq1 (6.3 cM), potential candidate gene Decr1 was identified. For QTLs Triglq1 (6.5 cM) and Bglq4 (6.5 cM), potential candidate genes Ttpa, Bhmt(Chr 13), Baat(22.7 cM), and Aldob (22.3 cM) were identified. For QTLs Nidd1 (48 cM) and Dob1 (50 cM), potential candidate genes Lepr (46.7 cM), Dio1 (48.7 cM), Scp2 (52 cM), Faah (56.5 cM), and Usp1 were identified.
Tafat	Chr4, 74.75 cM	Chr4:141621281-141621387	J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. Potential candidate genes for Tafat (80 cM) on mouse Chromosome 4 as identified by ExQuest are Ela2, Ela3b, and Dvl1 (82 cM). Chr 10 locus Ela2 exhibits 55-fold decreased expression in the pancreas of Tally Ho animals compared to C57BL/6J. For QTL Bwq1 (6.3 cM), potential candidate gene Decr1 was identified. For QTLs Triglq1 (6.5 cM) and Bglq4 (6.5 cM), potential candidate genes Ttpa, Bhmt(Chr 13), Baat(22.7 cM), and Aldob (22.3 cM) were identified. For QTLs Nidd1 (48 cM) and Dob1 (50 cM), potential candidate genes Lepr (46.7 cM), Dio1 (48.7 cM), Scp2 (52 cM), Faah (56.5 cM), and Usp1 were identified.
Triglq1	Chr4, 10.61 cM	Chr4:25683240-25683429	J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. Potential candidate genes for Tafat (80 cM) on mouse Chromosome 4 as identified by ExQuest are Ela2, Ela3b, and Dvl1 (82 cM). Chr 10 locus Ela2 exhibits 55-fold decreased expression in the pancreas of Tally Ho animals compared to C57BL/6J. For QTL Bwq1 (6.3 cM), potential candidate gene Decr1 was identified. For QTLs Triglq1 (6.5 cM) and Bglq4 (6.5 cM), potential candidate genes Ttpa, Bhmt(Chr 13), Baat(22.7 cM), and Aldob (22.3 cM) were identified. For QTLs Nidd1 (48 cM) and Dob1 (50 cM), potential candidate genes Lepr (46.7 cM), Dio1 (48.7 cM), Scp2 (52 cM), Faah (56.5 cM), and Usp1 were identified.

*cM position of peak correlated region/marker

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