Usp48 MGI Mouse Gene Detail - MGI:2158502 - ubiquitin specific peptidase 48

Symbol

Usp48
Name

ubiquitin specific peptidase 48
Synonyms

2810449C13Rik, D330022K21Rik, MGC:25724, Usp31

Feature Type

protein coding gene
IDs

MGI:2158502
NCBI Gene: 170707
Alliance

gene page
Transcription Start Sites

10 TSS

Sequence Map

Chr4:137321079-137385842 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 70.00 cM
Mapping Data

3 experiments

SNPs within 2kb

1760 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2158502	protein coding gene	Chr4:137321066-137385848 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0028985	protein coding gene	Chr4:140247612-140314717 (+)
A/J	MGP_AJ_G0028944	protein coding gene	Chr4:134277406-134343192 (+)
AKR/J	MGP_AKRJ_G0028896	protein coding gene	Chr4:138130227-138195991 (+)
BALB/cJ	MGP_BALBcJ_G0028968	protein coding gene	Chr4:134957636-135025237 (+)
C3H/HeJ	MGP_C3HHeJ_G0028682	protein coding gene	Chr4:138471104-138542616 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0029409	protein coding gene	Chr4:145245520-145316036 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026680	protein coding gene	Chr4:127283186-127348335 (+)
CAST/EiJ	MGP_CASTEiJ_G0028114	protein coding gene	Chr4:136605630-136675761 (+)
CBA/J	MGP_CBAJ_G0028647	protein coding gene	Chr4:149349773-149429482 (+)
DBA/2J	MGP_DBA2J_G0028796	protein coding gene	Chr4:134672767-134738602 (+)
FVB/NJ	MGP_FVBNJ_G0028763	protein coding gene	Chr4:133667125-133733873 (+)
LP/J	MGP_LPJ_G0028895	protein coding gene	Chr4:140332914-140402219 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0028789	protein coding gene	Chr4:153369380-153437728 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0029447	protein coding gene	Chr4:138606921-138673202 (+)
PWK/PhJ	MGP_PWKPhJ_G0027834	protein coding gene	Chr4:131496163-131563358 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0027660	protein coding gene	Chr4:134385316-134458012 (+)
WSB/EiJ	MGP_WSBEiJ_G0028192	protein coding gene	Chr4:138820729-138891568 (+)

Human Ortholog

USP48, ubiquitin specific peptidase 48

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

USP48, ubiquitin specific peptidase 48
Synonyms

DFNA85, RAP1GA1, USP31
Links

HGNC:18533

NCBI Gene ID: 84196

neXtProt AC: NX_Q86UV5

UniProt: Q86UV5
Chr Location

1p36.12; chr1:21678298-21783606 (-) GRCh38

MGI Vertebrate Homology

Usp48 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: USP48
Gene Tree

Usp48

Diseases

1 with human USP48 associations

				Human Disease	Mouse Models
				autosomal dominant nonsyndromic deafness IDs autosomal dominant nonsyndromic deafness DOID:0050564 ICD10CM:H90.3 OMIM:PS124900 ORDO:90635

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

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Phenotype Summary

17 phenotype references

All Mutations and Alleles

218
Chemically induced (other)

2
Endonuclease-mediated

5
Gene trapped

206
Targeted

5
Genomic Mutations

3 involving Usp48
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

218 strains or lines available

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All GO Annotations

17
GO References

8

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

762
Tissues

20
cDNA Data

184
Literature Summary

1

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase usp48

ZFIN usp48

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All Sequences

164
RefSeq

69
UniProt

14
CCDS

CCDS38924.1, CCDS84808.1

Ensembl

ENSMUSG00000043411 (Evidence)
NCBI Gene

170707

			Length	Strain/Species	Flank
genomic	170707	NCBI Gene Model \| MGI Sequence Detail	64764	C57BL/6J	± kb
transcript	NM_001405937	RefSeq \| MGI Sequence Detail	5766	C57BL/6
polypeptide	Q3V0C5	UniProt \| EBI \| MGI Sequence Detail	1052	Not Applicable

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UniProt

14 Sequences
Protein Ontology

PR:000017187 ubiquitin carboxyl-terminal hydrolase 48

(term hierarchy)
EC

3.4.19.12
InterPro Domains

IPR035927 DUSP-like superfamily

IPR038765 Papain-like cysteine peptidase superfamily

IPR001394 Peptidase C19, ubiquitin carboxyl-terminal hydrolase

IPR006615 Peptidase C19, ubiquitin-specific peptidase, DUSP domain

IPR050164 Ubiquitin carboxyl-terminal hydrolases

IPR000626 Ubiquitin-like domain

IPR029071 Ubiquitin-like domain superfamily

IPR033841 Ubiquitin-specific peptidase 48

IPR044743 Ubiquitin-specific-processing protease 48, Ubl domain

IPR018200 Ubiquitin specific protease, conserved site

IPR028889 Ubiquitin specific protease domain
GlyGen

Q3V0C5 1 site, 1 N-linked glycan (1 site)

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All nucleic 186

cDNA 184

Primer pair 1

Other 1

Microarray probesets 7

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MGI:1920015, MGI:2140189, MGI:2445055

Summaries

All 50

Developmental Gene Expression 1

Gene Ontology 8

Phenotypes 17
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:335075 Ren Y, et al., USP48 Stabilizes Gasdermin E to Promote Pyroptosis in Cancer. Cancer Res. 2023 Apr 4;83(7):1074-1093

TSS for Usp48:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr39760	Chr4:137321460-137321585 (+)	444 bp
Tssr39761	Chr4:137321623-137321630 (+)	548 bp
Tssr39762	Chr4:137322252-137322279 (+)	1,187 bp
Tssr39763	Chr4:137337982-137338019 (+)	16,922 bp
Tssr39764	Chr4:137339261-137339262 (+)	18,183 bp
Tssr39765	Chr4:137341850-137341854 (+)	20,773 bp
Tssr39766	Chr4:137348350-137348361 (+)	27,277 bp
Tssr39767	Chr4:137354003-137354018 (+)	32,932 bp
Tssr39768	Chr4:137354145-137354149 (+)	33,068 bp
Tssr39769	Chr4:137367635-137367638 (+)	46,558 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)
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