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

    Gene ID: 69727, updated on 9-Dec-2024

    Summary

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    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 located in cytoplasm. Predicted to be active in cytosol; glutamatergic synapse; and nucleus. Is expressed in cerebral cortex intermediate zone; cortical plate; and pancreas epithelium. Orthologous to human USP46 (ubiquitin specific peptidase 46). [provided by Alliance of Genome Resources, Dec 2024]
    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

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    See Usp46 in Genome Data Viewer
    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_000071.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 1700019F05 gene Neighboring gene STARR-seq mESC enhancer starr_13394 Neighboring gene STARR-seq mESC enhancer starr_13395 Neighboring gene expressed sequence C78283 Neighboring gene ubiquitin specific peptidase 46, opposite strand 1 Neighboring gene predicted gene, 52817 Neighboring gene STARR-positive B cell enhancer ABC_E8062 Neighboring gene small nucleolar RNA, H/ACA box 26 Neighboring gene differentiation antagonizing non-protein coding RNA Neighboring gene predicted gene, 32002

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Impaired Maternal Behavior in Usp46 Mutant Mice: A Model for Trans-Generational Transmission of Maternal Care. Umemura S, et al. PLoS One, 2015. PMID 26284364, Free PMC Article
    2. Behavioral characteristics of ubiquitin-specific peptidase 46-deficient mice. Imai S, et al. PLoS One, 2013. PMID 23472206, Free PMC Article
    3. Ubiquitin-specific peptidase 46 (Usp46) regulates mouse immobile behavior in the tail suspension test through the GABAergic system. Imai S, et al. PLoS One, 2012. PMID 22720038, Free PMC Article
    4. Usp46 is a quantitative trait gene regulating mouse immobile behavior in the tail suspension and forced swimming tests. Tomida S, et al. Nat Genet, 2009 Jun. PMID 19465912
    5. Lysine 92 amino acid residue of USP46, a gene associated with 'behavioral despair' in mice, influences the deubiquitinating enzyme activity. Zhang W, et al. PLoS One, 2011. PMID 22043315, Free PMC Article

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 deubiquitinase activity ISS
    Inferred from Sequence or Structural Similarity
    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 metal ion binding 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 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 
    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
    		  
    involved_in protein deubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in 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 protein stability IBA
    Inferred from Biological aspect of Ancestor
    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
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    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
    NP_001404630.1
    NP_808229.1
    XP_006504332.1

    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)

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

      Status: VALIDATED

      Source sequence(s)
      AC164570, AC242530

    2. NM_001417701.1 → NP_001404630.1  ubiquitin carboxyl-terminal hydrolase 46 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC164570, AC242530

    3. 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

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      74159387..74229070 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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 ...
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P62069.1 GenPept UniProtKB/Swiss-Prot:P62069

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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