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Aliases for USP46 Gene

Aliases for USP46 Gene

  • Ubiquitin Specific Peptidase 46 2 3 5
  • Ubiquitin-Specific-Processing Protease 46 4
  • Ubiquitin Specific Protease 46 2
  • Deubiquitinating Enzyme 46 4
  • Ubiquitin Thioesterase 46 4
  • EC 3.4.19.12 4
  • EC 3.1.2.15 63

External Ids for USP46 Gene

Previous GeneCards Identifiers for USP46 Gene

  • GC04M053311
  • GC04M053376
  • GC04M053302
  • GC04M053155
  • GC04M049398

Summaries for USP46 Gene

Entrez Gene Summary for USP46 Gene

  • 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]

GeneCards Summary for USP46 Gene

USP46 (Ubiquitin Specific Peptidase 46) is a Protein Coding gene. Among its related pathways are Ubiquitin-Proteasome Dependent Proteolysis. GO annotations related to this gene include thiol-dependent ubiquitin-specific protease activity and obsolete ubiquitin thiolesterase activity. An important paralog of this gene is USP36.

UniProtKB/Swiss-Prot for USP46 Gene

  • Deubiquitinating enzyme that plays a role in behavior, possibly by regulating GABA action. May act by mediating the deubiquitination of GAD1/GAD67 (By similarity). Has almost no deubiquitinating activity by itself and requires the interaction with WDR48 to have a high activity. Not involved in deubiquitination of monoubiquitinated FANCD2 (PubMed:19075014).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for USP46 Gene

Genomics for USP46 Gene

Regulatory Elements for USP46 Gene

Promoters for USP46 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around USP46 on UCSC Golden Path with GeneCards custom track

Genomic Location for USP46 Gene

Chromosome:
4
Start:
52,590,960 bp from pter
End:
52,659,335 bp from pter
Size:
68,376 bases
Orientation:
Minus strand

Genomic View for USP46 Gene

Genes around USP46 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
USP46 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for USP46 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for USP46 Gene

Proteins for USP46 Gene

  • Protein details for USP46 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P62068-UBP46_HUMAN
    Recommended name:
    Ubiquitin carboxyl-terminal hydrolase 46
    Protein Accession:
    P62068
    Secondary Accessions:
    • B7Z3Y7
    • B7Z675
    • B7Z7S3
    • G8ACC7
    • Q80V95
    • Q9H7U4
    • Q9H9T8

    Protein attributes for USP46 Gene

    Size:
    366 amino acids
    Molecular mass:
    42442 Da
    Quaternary structure:
    • Interacts with WDR48.

    Three dimensional structures from OCA and Proteopedia for USP46 Gene

    Alternative splice isoforms for USP46 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for USP46 Gene

Proteomics data for USP46 Gene at MOPED

Post-translational modifications for USP46 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for USP46 Gene

Gene Families for USP46 Gene

Protein Domains for USP46 Gene

Suggested Antigen Peptide Sequences for USP46 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P62068

UniProtKB/Swiss-Prot:

UBP46_HUMAN :
  • Contains 1 USP domain.
  • Belongs to the peptidase C19 family. USP12/USP46 subfamily.
Domain:
  • Contains 1 USP domain.
Family:
  • Belongs to the peptidase C19 family. USP12/USP46 subfamily.
genes like me logo Genes that share domains with USP46: view

Function for USP46 Gene

Molecular function for USP46 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).
UniProtKB/Swiss-Prot Function:
Deubiquitinating enzyme that plays a role in behavior, possibly by regulating GABA action. May act by mediating the deubiquitination of GAD1/GAD67 (By similarity). Has almost no deubiquitinating activity by itself and requires the interaction with WDR48 to have a high activity. Not involved in deubiquitination of monoubiquitinated FANCD2 (PubMed:19075014).

Enzyme Numbers (IUBMB) for USP46 Gene

genes like me logo Genes that share phenotypes with USP46: view

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for USP46 Gene

Localization for USP46 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for USP46 Gene COMPARTMENTS Subcellular localization image for USP46 gene
Compartment Confidence
cytosol 2
lysosome 1
mitochondrion 1
nucleus 1
vacuole 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for USP46 Gene

Pathways & Interactions for USP46 Gene

genes like me logo Genes that share pathways with USP46: view

Pathways by source for USP46 Gene

1 Qiagen pathway for USP46 Gene

Gene Ontology (GO) - Biological Process for USP46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001662 behavioral fear response IEA --
GO:0006511 ubiquitin-dependent protein catabolic process IEA --
GO:0008343 adult feeding behavior IEA --
GO:0032228 regulation of synaptic transmission, GABAergic ISS --
genes like me logo Genes that share ontologies with USP46: view

No data available for SIGNOR curated interactions for USP46 Gene

Drugs & Compounds for USP46 Gene

(1) Additional Compounds for USP46 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with USP46: view

Transcripts for USP46 Gene

Unigene Clusters for USP46 Gene

Ubiquitin specific peptidase 46:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for USP46 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b
SP1: -
SP2:
SP3: - - - - - - - -
SP4:
SP5: - - - - -
SP6: - - -
SP7: - - - -
SP8:

Relevant External Links for USP46 Gene

GeneLoc Exon Structure for
USP46
ECgene alternative splicing isoforms for
USP46

Expression for USP46 Gene

mRNA expression in normal human tissues for USP46 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for USP46 Gene

This gene is overexpressed in Spinal cord (16.8), Retina (12.2), and Frontal cortex (11.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for USP46 Gene



SOURCE GeneReport for Unigene cluster for USP46 Gene Hs.7966

mRNA Expression by UniProt/SwissProt for USP46 Gene

P62068-UBP46_HUMAN
Tissue specificity: Broadly expressed.
genes like me logo Genes that share expression patterns with USP46: view

Protein tissue co-expression partners for USP46 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for USP46 Gene

Orthologs for USP46 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for USP46 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia USP46 35
  • 93.99 (n)
  • 100 (a)
USP46 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia USP46 35
  • 93.52 (n)
  • 99.44 (a)
USP46 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Usp46 35
  • 93.08 (n)
  • 100 (a)
Usp46 16
Usp46 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia USP46 35
  • 99.64 (n)
  • 100 (a)
USP46 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Usp46 35
  • 92.9 (n)
  • 99.73 (a)
oppossum
(Monodelphis domestica)
Mammalia USP46 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia USP46 36
  • 97 (a)
OneToOne
chicken
(Gallus gallus)
Aves USP46 35
  • 87.61 (n)
  • 98.63 (a)
USP46 36
  • 99 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia USP46 36
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia usp46 35
  • 78.72 (n)
  • 90.68 (a)
zebrafish
(Danio rerio)
Actinopterygii usp46 35
  • 79.36 (n)
  • 95.89 (a)
usp46 36
  • 89 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012139 35
  • 68.08 (n)
  • 75.99 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7023 35
  • 69.2 (n)
  • 75.77 (a)
CG7023 36
  • 62 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea usp-46 35
  • 66.67 (n)
  • 71.55 (a)
usp-46 36
  • 59 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR370W 35
  • 53.33 (n)
  • 43.87 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E20351g 35
  • 52.49 (n)
  • 42.86 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBP9 35
  • 51.94 (n)
  • 44.85 (a)
UBP13 36
  • 18 (a)
ManyToMany
UBP9 36
  • 18 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons UBP3 35
  • 62.37 (n)
  • 62.46 (a)
soybean
(Glycine max)
eudicotyledons Gma.2460 35
rice
(Oryza sativa)
Liliopsida Os04g0452400 35
  • 61.96 (n)
  • 60.81 (a)
corn
(Zea mays)
Liliopsida Zm.8954 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 55 (a)
OneToMany
Species with no ortholog for USP46:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for USP46 Gene

ENSEMBL:
Gene Tree for USP46 (if available)
TreeFam:
Gene Tree for USP46 (if available)

Paralogs for USP46 Gene

(1) SIMAP similar genes for USP46 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with USP46: view

Variants for USP46 Gene

Sequence variations from dbSNP and Humsavar for USP46 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs17475800 - 52,628,039(+) GGTCC(A/G)CCAGG reference, missense, utr-variant-5-prime
rs14758 -- 52,594,226(+) AGGGT(A/G)TTAAA utr-variant-3-prime
rs346006 -- 52,629,573(+) AATGC(A/C)CTATA intron-variant
rs346008 -- 52,609,983(-) gcgcc(A/C)ctgca intron-variant
rs444566 -- 52,639,779(+) gcagc(A/G)tcaac intron-variant

Structural Variations from Database of Genomic Variants (DGV) for USP46 Gene

Variant ID Type Subtype PubMed ID
nsv524494 CNV Loss 19592680
esv2727602 CNV Deletion 23290073
esv2105142 CNV Deletion 18987734

Variation tolerance for USP46 Gene

Residual Variation Intolerance Score: 36.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.28; 6.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for USP46 Gene

HapMap Linkage Disequilibrium report
USP46
Human Gene Mutation Database (HGMD)
USP46

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for USP46 Gene

Disorders for USP46 Gene

Relevant External Links for USP46

Genetic Association Database (GAD)
USP46
Human Genome Epidemiology (HuGE) Navigator
USP46
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
USP46

No disorders were found for USP46 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for USP46 Gene

Publications for USP46 Gene

  1. Human and mouse proteases: a comparative genomic approach. (PMID: 12838346) Puente X.S. … Lopez-Otin C. (Nat. Rev. Genet. 2003) 2 3
  2. Structure-function analysis of USP1: insights into the role of Ser313 phosphorylation site and the effect of cancer-associated mutations on autocleavage. (PMID: 25744535) Olazabal-Herrero A. … RodrA-guez J.A. (Mol. Cancer 2015) 3
  3. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. E1-mediated recruitment of a UAF1-USP deubiquitinase complex facilitates human papillomavirus DNA replication. (PMID: 24850727) Lehoux M. … Archambault J. (J. Virol. 2014) 3

Products for USP46 Gene

Sources for USP46 Gene

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