Usp8 MGI Mouse Gene Detail - MGI:1934029 - ubiquitin specific peptidase 8

Symbol

Usp8
Name

ubiquitin specific peptidase 8
Synonyms

mKIAA0055, Ubpy

Feature Type

protein coding gene
IDs

MGI:1934029
NCBI Gene: 84092
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr2:126549280-126601234 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 61.76 cM
Mapping Data

1 experiment

SNPs within 2kb

1259 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1934029	protein coding gene	Chr2:126549248-126601234 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0026443	protein coding gene	Chr2:129940671-129997199 (+)
A/J	MGP_AJ_G0026406	protein coding gene	Chr2:124672286-124728872 (+)
AKR/J	MGP_AKRJ_G0026382	protein coding gene	Chr2:128240367-128291993 (+)
BALB/cJ	MGP_BALBcJ_G0026419	protein coding gene	Chr2:124949417-125001548 (+)
C3H/HeJ	MGP_C3HHeJ_G0026162	protein coding gene	Chr2:128744506-128796385 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0026864	protein coding gene	Chr2:134066127-134124133 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024241	protein coding gene	Chr2:119399377-119451705 (+)
CAST/EiJ	MGP_CASTEiJ_G0025623	protein coding gene	Chr2:128957542-129011310 (+)
CBA/J	MGP_CBAJ_G0026142	protein coding gene	Chr2:138987925-139044980 (+)
DBA/2J	MGP_DBA2J_G0026276	protein coding gene	Chr2:124087286-124143786 (+)
FVB/NJ	MGP_FVBNJ_G0026240	protein coding gene	Chr2:122739900-122791637 (+)
LP/J	MGP_LPJ_G0026381	protein coding gene	Chr2:130192067-130246921 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026260	protein coding gene	Chr2:143050864-143105685 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0026919	protein coding gene	Chr2:128266710-128328884 (+)
PWK/PhJ	MGP_PWKPhJ_G0025359	protein coding gene	Chr2:123629211-123681700 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025161	protein coding gene	Chr2:127346009-127399560 (+)
WSB/EiJ	MGP_WSBEiJ_G0025697	protein coding gene	Chr2:129150040-129204787 (+)

Human Ortholog

USP8, ubiquitin specific peptidase 8

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

USP8, ubiquitin specific peptidase 8
Synonyms

HumORF8, PITA4, SPG59, UBPY
Links

HGNC:12631

NCBI Gene ID: 9101

neXtProt AC: NX_P40818

UniProt: P40818
Chr Location

15q21.2; chr15:50424380-50514421 (+) GRCh38

MGI Vertebrate Homology

Usp8 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: USP8
Gene Tree

Usp8

Diseases

1 with human USP8 associations

				Human Disease	Mouse Models
				ACTH-secreting pituitary adenoma IDs ACTH-secreting pituitary adenoma DOID:7004 MESH:D049913 NCI:C7462 OMIM:219090 UMLS_CUI:C1306214

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

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Phenotype Summary

12 phenotypes from 2 alleles in 2 genetic backgrounds
16 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

28
Chemically induced (other)

1
Endonuclease-mediated

3
Gene trapped

19
Radiation induced

1
Targeted

4
Genomic Mutations

2 involving Usp8
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

52 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Embryos homozygous for a knock-out allele appear severely growth retarded and disorganized at E9.5 and die in utero due to ventral-folding defects.

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All GO Annotations

52
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

851
Tissues

118
cDNA Data

15
Literature Summary

2

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase usp8

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All Sequences

65
RefSeq

13
UniProt

6
CCDS

CCDS16687.1, CCDS57185.1

Ensembl

ENSMUSG00000027363 (Evidence)
NCBI Gene

84092

			Length	Strain/Species	Flank
genomic	84092	NCBI Gene Model \| MGI Sequence Detail	51955	C57BL/6J	± kb
transcript	NM_001252580	RefSeq \| MGI Sequence Detail	4178	C57BL/6
polypeptide	Q80U87	UniProt \| EBI \| MGI Sequence Detail	1080	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000017197 ubiquitin carboxyl-terminal hydrolase 8

(term hierarchy)
PDB

1UJ0
EC

3.4.19.12
InterPro Domains

IPR038765 Papain-like cysteine peptidase superfamily

IPR001394 Peptidase C19, ubiquitin carboxyl-terminal hydrolase

IPR001763 Rhodanese-like domain

IPR036873 Rhodanese-like domain superfamily

IPR050185 Ubiquitin carboxyl-terminal hydrolase

IPR018200 Ubiquitin specific protease, conserved site

IPR028889 Ubiquitin specific protease domain

IPR015063 USP8 dimerisation domain

IPR048498 USP8, WW domain
GlyGen

Q80U87 2 sites, 1 O-linked glycan (2 sites)

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All nucleic 15

cDNA 15

Microarray probesets 3

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MGI:2139005, MGI:2139401

Summaries

All 61

Developmental Gene Expression 2

Gene Ontology 14

Phenotypes 16
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

J:354857 Li H, et al., USP8-governed GPX4 homeostasis orchestrates ferroptosis and cancer immunotherapy. Proc Natl Acad Sci U S A. 2024 Apr 16;121(16):e2315541121

TSS for Usp8:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr19966	Chr2:126549103-126549155 (+)	-151 bp
Tssr19967	Chr2:126549239-126549331 (+)	5 bp
Tssr19968	Chr2:126549332-126549343 (+)	58 bp
Tssr19969	Chr2:126559961-126559978 (+)	10,690 bp
Tssr19970	Chr2:126577892-126577898 (+)	28,615 bp
Tssr19971	Chr2:126579928-126579967 (+)	30,668 bp
Tssr19972	Chr2:126600616-126600652 (+)	51,354 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 12/10/2024 MGI 6.24