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

Gene ID: 64854, updated on 11-Sep-2019

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
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

Genomic context

See USP46 in Genome Data Viewer
Location:
4q12
Exon count:
11
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (52590960..52659301, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (53457126..53525502, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268466 Neighboring gene metallophosphoesterase 1 pseudogene Neighboring gene RNA, U6 small nuclear 1252, pseudogene Neighboring gene USP46 antisense RNA 1 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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11850, FLJ12552, FLJ14283, FLJ39393

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cysteine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
thiol-dependent ubiquitin-specific protease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thiol-dependent ubiquitin-specific protease activity IDA
Inferred from Direct Assay
more info
PubMed 
thiol-dependent ubiquitinyl hydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
adult feeding behavior IEA
Inferred from Electronic Annotation
more info
 
behavioral fear response IEA
Inferred from Electronic Annotation
more info
 
behavioral response to ethanol IEA
Inferred from Electronic Annotation
more info
 
protein deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein deubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
regulation of postsynaptic neurotransmitter receptor internalization IEA
Inferred from Electronic Annotation
more info
 
regulation of synaptic transmission, GABAergic ISS
Inferred from Sequence or Structural Similarity
more info
 
righting reflex IEA
Inferred from Electronic Annotation
more info
 
ubiquitin-dependent protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
glutamatergic synapse IEA
Inferred from Electronic Annotation
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_016864046.1

NCBI Reference Sequences (RefSeq)

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
    P62068
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017008557.2XP_016864046.1  ubiquitin carboxyl-terminal hydrolase 46 isoform X1

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