Usp46 MGI Mouse Gene Detail - MGI:1916977 - ubiquitin specific peptidase 46

Symbol

Usp46
Name

ubiquitin specific peptidase 46
Synonyms

1190009E20Rik, 2410018I08Rik

Feature Type

protein coding gene
IDs

MGI:1916977
NCBI Gene: 69727
Alliance

gene page
Transcription Start Sites

9 TSS

Sequence Map

Chr5:74159387-74229070 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 5, 39.33 cM
Mapping Data

2 experiments

SNPs within 2kb

611 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1916977	protein coding gene	Chr5:74159114-74229092 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0029630	protein coding gene	Chr5:74033377-74116609 (-)
A/J	MGP_AJ_G0029598	protein coding gene	Chr5:71253767-71324992 (-)
AKR/J	MGP_AKRJ_G0029546	protein coding gene	Chr5:73563360-73649124 (-)
BALB/cJ	MGP_BALBcJ_G0029607	protein coding gene	Chr5:71963640-72034040 (-)
C3H/HeJ	MGP_C3HHeJ_G0029330	protein coding gene	Chr5:73958108-74033022 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0030061	protein coding gene	Chr5:77064926-77134603 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0027301	protein coding gene	Chr5:66922459-66989864 (-)
CAST/EiJ	MGP_CASTEiJ_G0028738	protein coding gene	Chr5:73027121-73111187 (-)
CBA/J	MGP_CBAJ_G0029299	protein coding gene	Chr5:79584455-79669989 (-)
DBA/2J	MGP_DBA2J_G0029444	protein coding gene	Chr5:71323405-71395211 (-)
FVB/NJ	MGP_FVBNJ_G0029405	protein coding gene	Chr5:70470527-70544844 (-)
LP/J	MGP_LPJ_G0029530	protein coding gene	Chr5:74477629-74557179 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0029432	protein coding gene	Chr5:82873541-82947075 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0030094	protein coding gene	Chr5:73100289-73181354 (-)
PWK/PhJ	MGP_PWKPhJ_G0028461	protein coding gene	Chr5:70296242-70369968 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0028296	protein coding gene	Chr5:72455933-72531896 (-)
WSB/EiJ	MGP_WSBEiJ_G0028818	protein coding gene	Chr5:73399863-73478004 (-)

Human Ortholog

USP46, ubiquitin specific peptidase 46

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

USP46, ubiquitin specific peptidase 46
Links

HGNC:20075

NCBI Gene ID: 64854

neXtProt AC: NX_P62068

UniProt: P62068
Chr Location

4q12; chr4:52590960-52659301 (-) GRCh38

MGI Vertebrate Homology

Usp46 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: USP46
Gene Tree

Usp46

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References

1 with disease annotations

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Phenotype Summary

4 phenotypes from 2 alleles in 2 genetic backgrounds
356 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

69
Chemically induced (other)

2
Endonuclease-mediated

2
Gene trapped

58
QTL

2
Radiation induced

1
Spontaneous

3
Targeted

1
Genomic Mutations

6 involving Usp46
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

79 strains or lines available

Mice homozygous for a gene trap allele exhibit reduced depression-related behaviors.

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All GO Annotations

29
GO References

9

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	non-membrane-bounded 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

709
Tissues

3
cDNA Data

10
Literature Summary

2

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

56
RefSeq

8
UniProt

4
CCDS

CCDS39112.1

Ensembl

ENSMUSG00000054814 (Evidence)
NCBI Gene

69727

			Length	Strain/Species	Flank
genomic	69727	NCBI Gene Model \| MGI Sequence Detail	69684	C57BL/6J	± kb
transcript	NM_177561	RefSeq \| MGI Sequence Detail	4535	C57BL/6
polypeptide	P62069	UniProt \| EBI \| MGI Sequence Detail	366	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000017185 ubiquitin carboxyl-terminal hydrolase 46

(term hierarchy)
EC

3.4.19.12
InterPro Domains

IPR038765 Papain-like cysteine peptidase superfamily

IPR001394 Peptidase C19, ubiquitin carboxyl-terminal hydrolase

IPR018200 Ubiquitin specific protease, conserved site

IPR028889 Ubiquitin specific protease domain

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All nucleic 10

cDNA 10

Microarray probesets 5

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MGI:1916152, MGI:2140899

Summaries

All 384

Developmental Gene Expression 2

Diseases 1

Gene Ontology 9

Phenotypes 356
Earliest

J:5021 Batchelor AL, et al., A comparison of the mutagenic effectiveness of chronic neutron- and gamma-irradiation of mouse spermatogonia. Mutat Res. 1966 Jun;3(3):218-29
Latest

J:341974 Harper RL, et al., Mast cell activation and degranulation in acute artery injury: A target for post-operative therapy. FASEB J. 2023 Jul;37(7):e23029

TSS for Usp46:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr51380	Chr5:74229022-74229099 (-)	9 bp
Tssr51379	Chr5:74228997-74229011 (-)	66 bp
Tssr51378	Chr5:74226397-74226419 (-)	2,662 bp
Tssr51377	Chr5:74226323-74226336 (-)	2,740 bp
Tssr51376	Chr5:74189899-74189923 (-)	39,159 bp
Tssr1510	Chr5:74189871-74189882 (-)	39,193 bp
Tssr51375	Chr5:74170086-74170126 (-)	58,964 bp
Tssr51374	Chr5:74169830-74169850 (-)	59,230 bp
Tssr1509	Chr5:74169689-74169703 (-)	59,374 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 04/09/2024 MGI 6.23