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    USP46 ubiquitin specific peptidase 46 [ Homo sapiens (human) ]

    Gene ID: 64854, updated on 10-Dec-2024

    Summary

    Official Symbol
    USP46provided by HGNC
    Official Full Name
    ubiquitin specific peptidase 46provided by HGNC
    Primary source
    HGNC:HGNC:20075
    See related
    Ensembl:ENSG00000109189 MIM:612849; AllianceGenome:HGNC:20075
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP46 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Jun 2009]
    Expression
    Ubiquitous expression in brain (RPKM 11.8), heart (RPKM 7.4) and 23 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See USP46 in Genome Data Viewer
    Location:
    4q12
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (52590960..52659301, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (56077847..56146196, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (53457126..53525468, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1252, pseudogene Neighboring gene small nucleolar RNA U13 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:53427991-53428218 Neighboring gene NANOG hESC enhancer GRCh37_chr4:53434310-53435021 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:53505773-53506003 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21555 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15423 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15424 Neighboring gene USP46 divergent transcript Neighboring gene ReSE screen-validated silencer GRCh37_chr4:53578367-53579200 Neighboring gene microRNA 4449 Neighboring gene differentiation antagonizing non-protein coding RNA

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study of biochemical traits in Korcula Island, Croatia.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ11850, FLJ12552, FLJ14283, FLJ39393

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cysteine-type deubiquitinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cysteine-type deubiquitinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in adult feeding behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in behavioral fear response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in behavioral response to ethanol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein deubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of protein stability IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of synaptic transmission, GABAergic ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in righting reflex IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    ubiquitin carboxyl-terminal hydrolase 46
    Names
    deubiquitinating enzyme 46
    ubiquitin thioesterase 46
    ubiquitin thiolesterase 46
    ubiquitin-specific-processing protease 46
    NP_001127695.1
    NP_001273696.1
    NP_001273697.1
    NP_073743.2
    XP_047272044.1
    XP_054206707.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001134223.2NP_001127695.1  ubiquitin carboxyl-terminal hydrolase 46 isoform 2

      See identical proteins and their annotated locations for NP_001127695.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 5'-terminal exon and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus, compared isoform 1.
      Source sequence(s)
      AC026448, BC037574, BP371221, BU620990
      Consensus CDS
      CCDS47054.1
      UniProtKB/Swiss-Prot
      P62068
      Related
      ENSP00000423244.1, ENST00000508499.5
      Conserved Domains (1) summary
      cd02663
      Location:29356
      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 ...
    2. NM_001286767.2NP_001273696.1  ubiquitin carboxyl-terminal hydrolase 46 isoform 3

      See identical proteins and their annotated locations for NP_001273696.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
      Source sequence(s)
      AC026448, AK299883, BC037574, CN483539
      UniProtKB/Swiss-Prot
      P62068
      Conserved Domains (1) summary
      cd02663
      Location:62351
      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 ...
    3. NM_001286768.2NP_001273697.1  ubiquitin carboxyl-terminal hydrolase 46 isoform 4

      See identical proteins and their annotated locations for NP_001273697.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC026448, AK296493, CN483539
      UniProtKB/Swiss-Prot
      P62068
      Conserved Domains (2) summary
      cl02553
      Location:1217
      Peptidase_C19; Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyse bonds involving the carboxyl group of the C-terminal Gly ...
      pfam00443
      Location:1218
      UCH; Ubiquitin carboxyl-terminal hydrolase
    4. NM_022832.4NP_073743.2  ubiquitin carboxyl-terminal hydrolase 46 isoform 1

      See identical proteins and their annotated locations for NP_073743.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC026448, BC037574, BU620990, CN483539
      Consensus CDS
      CCDS47053.1
      UniProtKB/Swiss-Prot
      B7Z3Y7, B7Z675, B7Z7S3, G8ACC7, P62068, Q80V95, Q9H7U4, Q9H9T8
      Related
      ENSP00000407818.2, ENST00000441222.8
      Conserved Domains (1) summary
      cd02663
      Location:36363
      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_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      52590960..52659301 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416088.1XP_047272044.1  ubiquitin carboxyl-terminal hydrolase 46 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      56077847..56146196 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350732.1XP_054206707.1  ubiquitin carboxyl-terminal hydrolase 46 isoform X1