Usp46 ubiquitin specific peptidase 46 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Usp46provided by MGI
Official Full Name: ubiquitin specific peptidase 46provided by MGI
Primary source: MGI:MGI:1916977
See related: Ensembl:ENSMUSG00000054814 AllianceGenome:MGI:1916977
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 1190009E20Rik; 2410018I08Rik
Summary: Enables deubiquitinase activity. Involved in regulation of GABAergic synaptic transmission. Acts upstream of or within several processes, including adult feeding behavior; behavioral fear response; and behavioral response to ethanol. Predicted to be active in cytosol and nucleus. Is expressed in pancreas epithelium. Orthologous to human USP46 (ubiquitin specific peptidase 46). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in frontal lobe adult (RPKM 10.7), cerebellum adult (RPKM 9.1) and 22 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 C3.3; 5 39.33 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (74159387..74229070, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (73998726..74068411, complement)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Usp46 mutation is associated with Impaired Maternal Behavior.
Title: Impaired Maternal Behavior in Usp46 Mutant Mice: A Model for Trans-Generational Transmission of Maternal Care.
Usp46 regulates a wide range of behavioral phenotypes that might be related to mental disorders
Title: Behavioral characteristics of ubiquitin-specific peptidase 46-deficient mice.
results suggest that the Lys 92 deletion of USP46 could influence enzyme activity and thereby provide a molecular clue how the enzyme regulating the pathogenesis of mental illnesses.
Title: Lysine 92 amino acid residue of USP46, a gene associated with 'behavioral despair' in mice, influences the deubiquitinating enzyme activity.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3) 1 citation
Gene trapped (1) 1 citation
QTL (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI451644 (e-PCR)
- UniSTS:185623

NoName (e-PCR)
- UniSTS:235200

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables cysteine-type deubiquitinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables cysteine-type deubiquitinase activity	ISO Inferred from Sequence Orthology more info
enables cysteine-type peptidase activity	IEA Inferred from Electronic Annotation more info
enables deubiquitinase activity	IDA Inferred from Direct Assay more info	PubMed
enables deubiquitinase activity	ISO Inferred from Sequence Orthology more info	PubMed
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables peptidase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within adult feeding behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within behavior	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within behavioral fear response	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within behavioral response to ethanol	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of T cell receptor signaling pathway	ISO Inferred from Sequence Orthology more info	PubMed
involved_in protein deubiquitination	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein deubiquitination	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within protein deubiquitination	ISO Inferred from Sequence Orthology more info	PubMed
involved_in protein deubiquitination	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within proteolysis	IEA Inferred from Electronic Annotation more info
involved_in regulation of postsynaptic neurotransmitter receptor internalization	ISO Inferred from Sequence Orthology more info
involved_in regulation of synaptic transmission, GABAergic	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within righting reflex	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	ISO Inferred from Sequence Orthology more info	PubMed
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info	PubMed
is_active_in synapse	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: ubiquitin carboxyl-terminal hydrolase 46

Names: deubiquitinating enzyme 46; ubiquitin specific protease 46; ubiquitin thioesterase 46; ubiquitin thiolesterase 46; ubiquitin-specific-processing protease 46

NP_001404629.1

EC 3.4.19.12

NP_001404630.1

EC 3.4.19.12

NP_808229.1

EC 3.4.19.12

XP_006504332.1

EC 3.4.19.12

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001417700.1 → NP_001404629.1 ubiquitin carboxyl-terminal hydrolase 46 isoform 2

Status: VALIDATED

Source sequence(s)

AC164570, AC242530
NM_001417701.1 → NP_001404630.1 ubiquitin carboxyl-terminal hydrolase 46 isoform 3

Status: VALIDATED

Source sequence(s)

AC164570, AC242530
NM_177561.4 → NP_808229.1 ubiquitin carboxyl-terminal hydrolase 46 isoform 1

See identical proteins and their annotated locations for NP_808229.1

Status: VALIDATED

Source sequence(s)

AC164570, AC242530

Consensus CDS

CCDS39112.1

UniProtKB/Swiss-Prot

P62069, Q3ULU5

Related

ENSMUSP00000070554.8, ENSMUST00000068058.14

Conserved Domains (1) summary

cd02663
Location:36 → 363

Peptidase_C19G; A subfamily of Peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

74159387..74229070 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006504269.2 → XP_006504332.1 ubiquitin carboxyl-terminal hydrolase 46 isoform X2

See identical proteins and their annotated locations for XP_006504332.1

Conserved Domains (1) summary

cd02663
Location:1 → 247

Peptidase_C19G; A subfamily of Peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...