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USP46 Gene

protein-coding   GIFtS: 57
GCID: GC04M053376

Ubiquitin Specific Peptidase 46

(Previous name: ubiquitin specific protease 46)
  Search for USP46
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ubiquitin Specific Peptidase 461 2     Ubiquitin Carboxyl-Terminal Hydrolase 462
Deubiquitinating Enzyme 462 3     Ubiquitin Thiolesterase 462
Ubiquitin Thioesterase 462 3     EC 3.4.19.123
Ubiquitin-Specific-Processing Protease 462 3     EC 3.1.2.158
Ubiquitin Specific Protease 461     

External Ids:    HGNC: 200751   Entrez Gene: 648542   Ensembl: ENSG000001091897   OMIM: 6128495   UniProtKB: P620683   

Export aliases for USP46 gene to outside databases

Previous GC identifers: GC04M053311 GC04M053302 GC04M053155 GC04M049398


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include ubiquitin-specific protease activity and ubiquitin thiolesterase activity. An important paralog of this gene is USP35.

UniProtKB/Swiss-Prot: UBP46_HUMAN, P62068
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NC_018915.2  NT_022853.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the USP46 gene promoter:
         S8   AML1a   Nkx2-2   Cdc5   POU3F2   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUSP46 promoter sequence
   Search Chromatin IP Primers for USP46

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat USP46


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q12   Ensembl cytogenetic band:  4q12   HGNC cytogenetic band: 4q12

USP46 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
USP46 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M053376:  view genomic region     (about GC identifiers)

Start:
53,457,126 bp from pter      End:
53,525,502 bp from pter
Size:
68,377 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: UBP46_HUMAN, P62068 (See protein sequence)
Recommended Name: Ubiquitin carboxyl-terminal hydrolase 46  
Size: 366 amino acids; 42442 Da
Subunit: Interacts with WDR48
Secondary accessions: B7Z3Y7 B7Z675 B7Z7S3 G8ACC7 Q80V95 Q9H7U4 Q9H9T8
Alternative splicing: 4 isoforms:  P62068-1   P62068-2   P62068-3   P62068-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for USP46: NX_P62068

Explore proteomics data for USP46 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for USP46 (P62068) (see all 17)
     QEAQKRM  KQEKQNG  TCLADLF  IGPEQFP 


    See USP46 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001127695.1  NP_001273696.1  NP_001273697.1  NP_073743.2  

    ENSEMBL proteins: 
     ENSP00000407818   ENSP00000390102   ENSP00000422018   ENSP00000426970   ENSP00000423244  
     ENSP00000425806  

    USP46 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for USP46
    OriGene Custom MassSpec
    OriGene Custom Protein Services for USP46
    GenScript Custom Purified and Recombinant Proteins Services for USP46
    Novus Biologicals USP46 Proteins
    Novus Biologicals USP46 Lysates
    Sino Biological Recombinant Protein for USP46
    Sino Biological Cell Lysate for USP46
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for USP46

     
    Search eBioscience for Proteins for USP46 

    USP46 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for USP46
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    ThermoFisher Antibodies for USP46
    LSBio Antibodies in human, mouse, rat for USP46

    USP46 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for USP46
    Cloud-Clone Corp. CLIAs for USP46
    Search eBioscience for ELISAs for USP46 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    USP: Ubiquitin-specific peptidases

    3 InterPro protein domains:
     IPR001394 Peptidase_C19_UCH
     IPR018200 Pept_C19ubi-hydrolase_C_CS
     IPR028889 UCH/PAN2

    Graphical View of Domain Structure for InterPro Entry P62068

    ProtoNet protein and cluster: P62068

    1 Blocks protein domain: IPB001394 Ubiquitin thiolesterase

    UniProtKB/Swiss-Prot: UBP46_HUMAN, P62068
    Similarity: Belongs to the peptidase C19 family. USP12/USP46 subfamily
    Similarity: Contains 1 USP domain


    Find genes that share domains with USP46           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UBP46_HUMAN, P62068
    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
    Catalytic activity: 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)

         Enzyme Numbers (IUBMB): EC 3.1.2.152 EC 3.4.19.121

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004221ubiquitin thiolesterase activity IDA19075014
    GO:0004843ubiquitin-specific protease activity IDA14715245
    GO:0005515protein binding IPI19075014
         
    Find genes that share ontologies with USP46           About GenesLikeMe


    Phenotypes:
         1 MGI mutant phenotype (inferred from 2 alleles(MGI details for Usp46):
     behavior/neurological 

    Find genes that share phenotypes with USP46           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for USP46
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for USP46
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for USP46

    miRNA
    Products:
        
    miRTarBase miRNAs that target USP46:
    hsa-mir-375 (MIRT019851), hsa-mir-140-3p (MIRT038649), hsa-mir-106b-5p (MIRT020484)

    Block miRNA regulation of human, mouse, rat USP46 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate USP46 (see all 171):
    hsa-miR-520f hsa-miR-106a hsa-miR-128 hsa-miR-877* hsa-miR-409-5p hsa-miR-200b hsa-miR-130b hsa-miR-761
    SwitchGear 3'UTR luciferase reporter plasmidUSP46 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for USP46
    Predesigned siRNA for gene silencing in human, mouse, rat USP46

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for USP46

    Clone
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    OriGene clones in human, mouse for USP46 (see all 13)
    OriGene ORF clones in mouse, rat for USP46
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): USP46 (NM_001134223)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for USP46
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat USP46
    Addgene plasmids for USP46 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for USP46
    Browse ESI BIO Cell Lines and PureStem Progenitors for USP46 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for USP46


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    endosome1
    lysosome1
    mitochondrion1
    nucleus1
    vacuole1

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for USP46 About    
    See pathways by source

    SuperPathContained pathways About
    1Ubiquitin-Proteasome Dependent Proteolysis
    Ubiquitin-Proteasome Dependent Proteolysis

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for USP46
        Ubiquitin-Proteasome Dependent Proteolysis



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for USP46
    Interactions:

        Search GeneGlobe Interaction Network for USP46

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for USP46 (P620683 ENSP000004078184) via UniProtKB, MINT, STRING, and/or I2D (see all 64)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    WDR48Q8TAF33, ENSP000003074914I2D: score=6 STRING: ENSP00000307491
    ALDH9A1P491893, ENSP000003468274I2D: score=2 STRING: ENSP00000346827
    DMWDQ090193, ENSP000002702234I2D: score=2 STRING: ENSP00000270223
    EIF2AK4Q9P2K83, ENSP000002637914I2D: score=2 STRING: ENSP00000263791
    PHLPP2Q6ZVD83, ENSP000003486114I2D: score=2 STRING: ENSP00000348611
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001662behavioral fear response IEA--
    GO:0006511ubiquitin-dependent protein catabolic process IEA--
    GO:0007610behavior ----
    GO:0016579protein deubiquitination IDA14715245
    GO:0032228regulation of synaptic transmission, GABAergic ISS--

    Find genes that share ontologies with USP46           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for USP46 (UBP46)

    1 HMDB Compound for USP46    About this table
    CompoundSynonyms CAS #PubMed Ids
    WaterDihydrogen oxide (see all 2)7732-18-5--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for USP46 gene (4 alternative transcripts): 
    NM_001134223.1  NM_001286767.1  NM_001286768.1  NM_022832.3  

    Unigene Cluster for USP46:

    Ubiquitin specific peptidase 46
    Hs.7966  [show with all ESTs]
    Unigene Representative Sequence: NM_001134223
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000441222(uc003gzm.4 uc003gzn.3 uc011bzr.2 uc011bzs.2)
    ENST00000451218 ENST00000503060 ENST00000514536 ENST00000508499 ENST00000502443
    ENST00000506707 ENST00000512656 ENST00000504078
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat USP46 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate USP46 (see all 171):
    hsa-miR-520f hsa-miR-106a hsa-miR-128 hsa-miR-877* hsa-miR-409-5p hsa-miR-200b hsa-miR-130b hsa-miR-761
    SwitchGear 3'UTR luciferase reporter plasmidUSP46 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for USP46
    Predesigned siRNA for gene silencing in human, mouse, rat USP46
    Clone
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    OriGene clones in human, mouse for USP46 (see all 13)
    OriGene ORF clones in mouse, rat for USP46
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): USP46 (NM_001134223)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for USP46
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat USP46
    Addgene plasmids for USP46 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for USP46
    OriGene qSTAR qPCR primer pairs in human, mouse for USP46
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat USP46
      QuantiTect SYBR Green Assays in human, mouse, rat USP46
      QuantiFast Probe-based Assays in human, mouse, rat USP46

    Additional mRNA sequence: 

    AF070557.1 AK021861.1 AK022614.1 AK024318.1 AK024345.1 AK096712.1 AK296493.1 AK299883.1 
    AK302438.1 BC037574.1 GU455414.1 

    8 DOTS entries:

    DT.216106  DT.306763  DT.95158698  DT.100009942  DT.121232700  DT.95158700  DT.95215287  DT.87024747 

    Selected AceView cDNA sequences (see all 144):

    BU190587 Z43068 Z41635 BM722473 AW188211 BF511991 AI269069 AI363465 
    AF070557 AU118910 AL698720 AI094585 H12124 BP371221 BC037574 AA864588 
    AW511434 F04866 CB243090 CB216241 AI160127 AI087312 BF593826 BE644658 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for USP46 (see all 8)    About this scheme

    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:                          -     -     -                 -     -                                                                                       


    ECgene alternative splicing isoforms for USP46

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    USP46 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGTCAGGGAA
    USP46 Expression
    About this image


    USP46 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow
    USP46 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    USP46 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.7966

    UniProtKB/Swiss-Prot: UBP46_HUMAN, P62068
    Tissue specificity: Broadly expressed

        Custom PCR Arrays for USP46
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat USP46
    QuantiTect SYBR Green Assays in human, mouse, rat USP46
    QuantiFast Probe-based Assays in human, mouse, rat USP46
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for USP46

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for USP46 gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Usp461 , 5 ubiquitin specific peptidase 461, 5 93.08(n)1
    100(a)1
      5 (39.33 cM)5
    697271  NM_177561.31  NP_808229.11 
     739984635 
    chicken
    (Gallus gallus)
    Aves USP461 ubiquitin specific peptidase 46 87.61(n)
    98.63(a)
      422758  XM_420711.4  XP_420711.1 
    lizard
    (Anolis carolinensis)
    Reptilia USP466
    ubiquitin specific peptidase 46
    97(a)
    1 ↔ 1
    GL343293.1(1385827-1423849)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC044045.12   -- 79.78(n)    BC044045.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CD604688.12   -- 85.91(n)    CD604688.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG70231 CG7023 69.2(n)
    75.77(a)
      42702  NM_142842.2  NP_651099.1 
    worm
    (Caenorhabditis elegans)
    Secernentea usp-461 usp-46 66.67(n)
    71.55(a)
      176381  NM_066761.4  NP_499162.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes UBP91 UBP9 51.94(n)
    44.85(a)
      856835   NP_011024.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons UBP31 UBP3 62.37(n)
    62.46(a)
      830150  NM_120154.4  NP_568074.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g04524001 Os04g0452400 61.96(n)
    60.81(a)
      4336009  NM_001059486.1  NP_001052951.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for USP46 gene
    USP352  USP122  USP382  USP12  
    1 SIMAP similar gene for USP46 using alignment to 5 protein entries:     UBP46_HUMAN (see all proteins):
    USP12

    Find genes that share paralogs with USP46           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for USP46 (see all 1089)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1452750391,2
    --53456676(+) TTCTTA/CCCCTA 2 -- int10--------
    rs1505997191,2
    --53456735(+) ATAATC/TGACTG 2 -- int10--------
    rs412803551,2
    C,F--53456736(+) TAATCG/AACTGT 2 -- int13Minor allele frequency- A:0.14WA NA EA 358
    rs1822902601,2
    --53456873(+) TTCCCC/TTTTAA 2 -- int10--------
    rs1866241351,2
    --53456882(+) AAATAC/TTGAAG 2 -- int10--------
    rs1126926331,2
    C,F--53457140(+) AAAGAG/ATTTTC 2 -- ut311Minor allele frequency- A:0.50CSA 2
    rs1923695611,2
    --53457399(+) GAGACC/TGAAAT 2 -- ut310--------
    rs1171646131,2
    C--53457417(+) TGGCTG/ACATTG 2 -- ut311Minor allele frequency- A:0.01EA 120
    rs22708271,2
    C,F,O,A,H--53457420(-) ATCCAA/GTGCAG 2 -- ut3121Minor allele frequency- G:0.16NS EA NA CSA WA 2482
    rs76908121,2
    C,F--53457594(+) TGAACT/CCCTTT 2 -- ut319Minor allele frequency- C:0.17NA CSA WA EA 503

    HapMap Linkage Disequilibrium report for USP46 (53457126 - 53525502 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for USP46:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2105142CNV Deletion18987734
    esv2727602CNV Deletion23290073
    nsv524494CNV Loss19592680

    Human Gene Mutation Database (HGMD): USP46
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing USP46
    DNA2.0 Custom Variant and Variant Library Synthesis for USP46

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612849    OMIM disorders: --


    Find genes that share disorders with USP46           About GenesLikeMe

    Genetic Association Database (GAD): USP46
    Human Genome Epidemiology (HuGE) Navigator: USP46 (2 documents)

    Export disorders for USP46 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for USP46 gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with USP46)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Lysine 92 amino acid residue of USP46, a gene associated with 'behavioral despair' in mice, influences the deubiquitinating enzyme activity. (PubMed id 22043315)1, 2 Zhang W....Wang M.W. (PLoS ONE 2011)
    2. Association study of ubiquitin-specific peptidase 46 (USP46) with bipolar disorder and schizophrenia in a Japanese population. (PubMed id 20111060)1, 4 Kushima I....Ozaki N. (J. Hum. Genet. 2010)
    3. Genome-wide association study of biochemical traits in Korcula Island, Croatia. (PubMed id 19260141)1, 4 Zemunik T....Rudan I. (Croat. Med. J. 2009)
    4. UAF1 is a subunit of multiple deubiquitinating enzyme complexes. (PubMed id 19075014)1, 2 Cohn M.A.... D'Andrea A.D. (J. Biol. Chem. 2009)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Cloning and enzymatic analysis of 22 novel human ubiquitin-specific proteases. (PubMed id 14715245)1, 2 Quesada V.... Lopez-Otin C. (Biochem. Biophys. Res. Commun. 2004)
    8. Human and mouse proteases: a comparative genomic approach. (PubMed id 12838346)1, 3 Puente X.S.... Lopez-Otin C. (Nat. Rev. Genet. 2003)
    9. The deubiquitination enzyme USP46 functions as a tumor suppressor by controlling PHLPP-dependent attenuation of Akt signaling in colon cancer. (PubMed id 22391563)1 Li X....Gao T. (Oncogene 2013)
    10. Possible association between ubiquitin-specific peptidase 46 gene and major depressive disorders in the Japanese population. (PubMed id 21663972)1 Fukuo Y....Iwata N. (J Affect Disord 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 64854 HGNC: 20075 AceView: USP46 Ensembl:ENSG00000109189 euGenes: HUgn64854
    ECgene: USP46 H-InvDB: USP46

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for USP46 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for USP46 gene:
    Search GeneIP for patents involving USP46

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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