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Aliases for USP46 Gene

Aliases for USP46 Gene

  • Ubiquitin Specific Peptidase 46 2 3
  • 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 64

External Ids for USP46 Gene

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 ubiquitin thiolesterase activity and ubiquitin-specific protease activity. An important paralog of this gene is USP12.

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. 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.

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

Genomic Location for USP46 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for USP46 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for USP46 Gene

Regulatory Elements 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.

    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 for USP46 Gene

Gene Families for USP46 Gene

HGNC:
  • USP :Ubiquitin-specific peptidases

Protein Domains for USP46 Gene

UniProtKB/Swiss-Prot:

UBP46_HUMAN
Domain:
  • Contains 1 USP domain.:
    • P62068
Family:
  • Belongs to the peptidase C19 family. USP12/USP46 subfamily.:
    • P62068
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. 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.

Enzyme Numbers (IUBMB) for USP46 Gene

Gene Ontology (GO) - Molecular Function for USP46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004221 ubiquitin thiolesterase activity --
GO:0004843 ubiquitin-specific protease activity IDA 14715245
GO:0005515 protein binding IPI 19075014
GO:0036459 ubiquitinyl hydrolase activity --
genes like me logo Genes that share ontologies with USP46: view

Phenotypes for USP46 Gene

MGI mutant phenotypes for USP46:
inferred from 2 alleles
genes like me logo Genes that share phenotypes with USP46: view

miRNA for USP46 Gene

miRTarBase miRNAs that target USP46

No data available for Animal Models , Transcription Factor Targeting 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
endosome 1
lysosome 1
mitochondrion 1
nucleus 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for USP46 Gene

Pathways 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:0016579 protein deubiquitination IDA 14715245
GO:0032228 regulation of synaptic transmission, GABAergic ISS --
genes like me logo Genes that share ontologies with USP46: view

Compounds for USP46 Gene

(1) HMDB Compounds for USP46 Gene

Compound Synonyms Cas Number PubMed IDs
Water
  • Dihydrogen oxide
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

Integrated Proteomics: protein expression 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 expressions with USP46: view

Orthologs for USP46 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for USP46 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia USP46 36
  • 99.64 (n)
  • 100 (a)
USP46 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia USP46 36
  • 93.99 (n)
  • 100 (a)
USP46 37
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia USP46 36
  • 93.52 (n)
  • 99.44 (a)
USP46 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Usp46 36
  • 93.08 (n)
  • 100 (a)
Usp46 16
Usp46 37
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia USP46 37
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia USP46 37
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Usp46 36
  • 92.9 (n)
  • 99.73 (a)
chicken
(Gallus gallus)
Aves USP46 36
  • 87.61 (n)
  • 98.63 (a)
USP46 37
  • 99 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia USP46 37
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia usp46 36
  • 78.72 (n)
  • 90.68 (a)
zebrafish
(Danio rerio)
Actinopterygii usp46 36
  • 79.36 (n)
  • 95.89 (a)
usp46 37
  • 89 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012139 36
  • 68.08 (n)
  • 75.99 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7023 36
  • 69.2 (n)
  • 75.77 (a)
CG7023 37
  • 62 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea usp-46 36
  • 66.67 (n)
  • 71.55 (a)
usp-46 37
  • 59 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR370W 36
  • 53.33 (n)
  • 43.87 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBP13 37
  • 18 (a)
ManyToMany
UBP9 36
  • 51.94 (n)
  • 44.85 (a)
UBP9 37
  • 18 (a)
ManyToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E20351g 36
  • 52.49 (n)
  • 42.86 (a)
soybean
(Glycine max)
eudicotyledons Gma.2460 36
thale cress
(Arabidopsis thaliana)
eudicotyledons UBP3 36
  • 62.37 (n)
  • 62.46 (a)
corn
(Zea mays)
Liliopsida Zm.8954 36
rice
(Oryza sativa)
Liliopsida Os04g0452400 36
  • 61.96 (n)
  • 60.81 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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

Paralogs for USP46 Gene

Selected 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 MAF
rs14758 -- 52,594,226(+) AGGGT(A/G)TTAAA utr-variant-3-prime
rs184697 -- 52,610,188(+) caaag(G/T)gctgg intron-variant
rs184698 -- 52,610,100(+) tttgt(A/T)ttttt intron-variant
rs189385 -- 52,609,995(-) tgagt(C/T)gagat intron-variant
rs191514 -- 52,610,127(+) caccg(G/T)gttag 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

Relevant External Links for USP46 Gene

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

Disorders for USP46 Gene

Relevant External Links for USP46

Genetic Association Database (GAD)
USP46
Human Genome Epidemiology (HuGE) Navigator
USP46
genes like me logo Genes that share disorders with USP46: view

No data available for UniProtKB/Swiss-Prot 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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. Cloning and enzymatic analysis of 22 novel human ubiquitin-specific proteases. (PMID: 14715245) Quesada V. … Lopez-Otin C. (Biochem. Biophys. Res. Commun. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. UAF1 is a subunit of multiple deubiquitinating enzyme complexes. (PMID: 19075014) Cohn M.A. … D'Andrea A.D. (J. Biol. Chem. 2009) 3 4

Products for USP46 Gene

  • Addgene plasmids for USP46

Sources for USP46 Gene

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