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UCHL3 Gene

protein-coding   GIFtS: 65
GCID: GC13P076123

Ubiquitin Carboxyl-Terminal Esterase L3 (Ubiquitin Thiolesterase)

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(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 Carboxyl-Terminal Esterase L3 (Ubiquitin Thiolesterase)1 2
Ubiquitin Thioesterase L32 3
UCH-L32 3
Ubiquitin Carboxyl-Terminal Hydrolase Isozyme L32
Ubiquitin Thiolesterase2
EC 3.4.19.123

External Ids:    HGNC: 125151   Entrez Gene: 73472   Ensembl: ENSG000001189397   OMIM: 6030905   UniProtKB: P153743   

Export aliases for UCHL3 gene to outside databases

Previous GC identifers: GC13P074091 GC13P070118 GC13P075060 GC13P073921 GC13P075021 GC13P056821


(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 UCHL3 Gene:
The protein encoded by this gene is a member of the deubiquitinating enzyme family. Members of this family are
proteases that catalyze the removal of ubiquitin from polypeptides and are divided into five classes, depending
on the mechanism of catalysis. This protein may hydrolyze the ubiquitinyl-N-epsilon amide bond of ubiquitinated
proteins to regenerate ubiquitin for another catalytic cycle. Alternative splicing results in multiple transcript
variants that encode different protein isoforms. (provided by RefSeq, Aug 2012)

GeneCards Summary for UCHL3 Gene:
UCHL3 (ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)) is a protein-coding gene. GO annotations related to this gene include peptidase activity and ubiquitin thiolesterase activity. An important paralog of this gene is UCHL1.

UniProtKB/Swiss-Prot: UCHL3_HUMAN, P15374
Function: Deubiquitinating enzyme (DUB) that controls levels of cellular ubiquitin through processing of ubiquitin
precursors and ubiquitinated proteins. Thiol protease that recognizes and hydrolyzes a peptide bond at the
C-terminal glycine of either ubiquitin or NEDD8. Has a 10-fold preference for Arg and Lys at position P3", and
exhibits a preference towards 'Lys-48'-linked Ubiquitin chains. Deubiquitinates ENAC in apical compartments,
thereby regulating apical membrane recycling. Indirectly increases the phosphorylation of IGFIR, AKT and FOXO1
and promotes insulin-signaling and insulin-induced adipogenesis. Required for stress-response retinal, skeletal
muscle and germ cell maintenance. May be involved in working memory. Can hydrolyze UBB(+1), a mutated form of
ubiquitin which is not effectively degraded by the proteasome and is associated with neurogenerative disorders

Gene Wiki entry for UCHL3 Gene


(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_000013.10  NT_024524.15  NC_018924.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the UCHL3 gene promoter:
         HOXA9   HOXA9B   p53   Meis-1a   Meis-1b   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUCHL3 promoter sequence
   Search Chromatin IP Primers for UCHL3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UCHL3


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

Entrez Gene cytogenetic band: 13q22.2   Ensembl cytogenetic band:  13q22.2   HGNC cytogenetic band: 13q21.33

UCHL3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UCHL3 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P076123:  view genomic region     (about GC identifiers)

Start:
76,123,619 bp from pter      End:
76,180,085 bp from pter
Size:
56,467 bases      Orientation:
plus 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: UCHL3_HUMAN, P15374 (See protein sequence)
Recommended Name: Ubiquitin carboxyl-terminal hydrolase isozyme L3  
Size: 230 amino acids; 26183 Da
Subunit: Preferentially binds diubiquitin; the interaction does not hydrolyze diubiquitin but, in vitro, inhibits
the hydrolyzing activity on other substrates
Miscellaneous: Identified as a tumor-specific antigen in colon cancer
2 PDB 3D structures from and Proteopedia for UCHL3:
1UCH (3D)        1XD3 (3D)    
Secondary accessions: B2R970 Q5TBK8 Q6IBE9

Explore the universe of human proteins at neXtProt for UCHL3: NX_P15374

Explore proteomics data for UCHL3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys121
  • Modification sites at PhosphoSitePlus

  • See UCHL3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001257881.1  NP_005993.1  

    ENSEMBL proteins: 
     ENSP00000366819   ENSP00000398189  

    UCHL3 Human Recombinant Protein Products:

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    Novus Biologicals UCHL3 Lysate
    Sino Biological Recombinant Protein for UCHL3
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for UCHL3
    Cloud-Clone Corp. Proteins for UCHL3

     
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    antibodies-online proteins for UCHL3 (19 products) 

     
    antibodies-online peptides for UCHL3

    UCHL3 Antibody Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR001578 Peptidase_C12_UCH

    Graphical View of Domain Structure for InterPro Entry P15374

    ProtoNet protein and cluster: P15374

    1 Blocks protein domain: IPB001578 Ubiquitin carboxyl-terminal hydrolase

    UniProtKB/Swiss-Prot: UCHL3_HUMAN, P15374
    Similarity: Belongs to the peptidase C12 family


    Find genes that share domains with UCHL3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: UCHL3_HUMAN, P15374
    Function: Deubiquitinating enzyme (DUB) that controls levels of cellular ubiquitin through processing of ubiquitin
    precursors and ubiquitinated proteins. Thiol protease that recognizes and hydrolyzes a peptide bond at the
    C-terminal glycine of either ubiquitin or NEDD8. Has a 10-fold preference for Arg and Lys at position P3", and
    exhibits a preference towards 'Lys-48'-linked Ubiquitin chains. Deubiquitinates ENAC in apical compartments,
    thereby regulating apical membrane recycling. Indirectly increases the phosphorylation of IGFIR, AKT and FOXO1
    and promotes insulin-signaling and insulin-induced adipogenesis. Required for stress-response retinal, skeletal
    muscle and germ cell maintenance. May be involved in working memory. Can hydrolyze UBB(+1), a mutated form of
    ubiquitin which is not effectively degraded by the proteasome and is associated with neurogenerative disorders
    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 regulation: Inhibited by monoubiquitin and diubiquitin

         Enzyme Number (IUBMB): EC 3.4.19.121

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004221ubiquitin thiolesterase activity TAS2530630
    GO:0004843ubiquitin-specific protease activity IEA--
    GO:0005515protein binding IPI--
    GO:0008233peptidase activity IDA--
    GO:0008234cysteine-type peptidase activity ----
         
    Find genes that share ontologies with UCHL3           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for UCHL3:
     Decreased Wnt reporter activit  Decreased viability of wild-ty  Increased cell death HMECs cel 

         11 MGI mutant phenotypes (inferred from 1 allele(MGI details for Uchl3):
     behavior/neurological  cardiovascular system  cellular  digestive/alimentary  growth/size/body 
     immune system  mortality/aging  muscle  nervous system  reproductive system 
     vision/eye 

    Find genes that share phenotypes with UCHL3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Uchl3tm1Tilg for UCHL3

       genOway: Develop your customized and physiologically relevant rodent model for UCHL3

    miRNA
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    miRTarBase miRNAs that target UCHL3:
    hsa-mir-183-5p (MIRT047087), hsa-mir-375 (MIRT019702)

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    1 qRT-PCR Assays for microRNA that regulate UCHL3:
    hsa-miR-4282
    SwitchGear 3'UTR luciferase reporter plasmidUCHL3 3' UTR sequence
    Inhib. RNA
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    Addgene plasmids for UCHL3 

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    (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 UniProtKB/Swiss-Prot
    UCHL3_HUMAN, P15374: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion4
    nucleus4
    cytosol3
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion ----

    Find genes that share ontologies with UCHL3           About GenesLikeMe


    (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 UCHL3 About    
    See pathways by source

    SuperPathContained pathways About
    1CDK-mediated phosphorylation and removal of Cdc6
    Proteasome Degradation0.57
    2Inactivation of APC/C via direct inhibition of the APC/C complex
    Common schema of ubiquitination0.33
    3Protein Stability
    Protein Stability
    4Neuroscience
    Neuroscience


    Find genes that share SuperPaths with UCHL3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for UCHL3
        Neuroscience
    Protein Stability

    1 BioSystems Pathway for UCHL3
        Proteasome Degradation



        Pathway & Disease-focused RT2 Profiler PCR Arrays including UCHL3: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for UCHL3

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

    Selected Interacting proteins for UCHL3 (P153741, 2, 3 ENSP000003668194) via UniProtKB, MINT, STRING, and/or I2D (see all 62)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN7L3Q14CW92, 3, ENSP000003972594MINT-2863955 I2D: score=3 STRING: ENSP00000397259
    HMP19Q9Y3282, 3, ENSP000003077224MINT-8276684 I2D: score=2 STRING: ENSP00000307722
    POGKQ9P2152, 3, ENSP000003568494MINT-8276695 I2D: score=2 STRING: ENSP00000356849
    SMAD1Q157971, 2, 3, ENSP000003057694EBI-954554,EBI-1567153 MINT-8149667 MINT-8149655 I2D: score=3 STRING: ENSP00000305769
    UBA52P629873, ENSP000003881074I2D: score=3 STRING: ENSP00000388107
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006511ubiquitin-dependent protein catabolic process IEA--
    GO:0030163protein catabolic process IDA--

    Find genes that share ontologies with UCHL3           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
       Enzo Life Sciences drugs & compounds for UCHL3
      Browse compounds at ApexBio 

    Browse Tocris compounds for UCHL3

    1 Novoseek inferred chemical compound relationship for UCHL3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cysteine 10.5 1 17449248 (1)



    Find genes that share compounds with UCHL3           About GenesLikeMe



    (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 UCHL3 gene (2 alternative transcripts): 
    NM_001270952.1  NM_006002.4  

    Unigene Cluster for UCHL3:

    Ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)
    Hs.162241  [show with all ESTs]
    Unigene Representative Sequence: BF217744
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000471792 ENST00000377595(uc001vjq.3) ENST00000419068 ENST00000606347
    ENST00000607339
    miRNA
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    hsa-miR-4282
    SwitchGear 3'UTR luciferase reporter plasmidUCHL3 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat UCHL3
      QuantiFast Probe-based Assays in human, mouse, rat UCHL3

    Additional mRNA sequence: 

    AK313665.1 BC018125.2 BT019359.1 CR456855.1 M30496.1 

    9 DOTS entries:

    DT.100020229  DT.443153  DT.100759696  DT.120775701  DT.92422609  DT.100759697  DT.120775606  DT.92422607 
    DT.314341 

    Selected AceView cDNA sequences (see all 105):

    CA309382 CD108176 CA307428 AI360639 CA422125 BU615191 CD367748 BQ447804 
    CR610104 AW149160 BU681570 BG939578 CF529886 BG741988 BU954621 AI218291 
    BQ427804 AA746355 BF003036 BE501475 W24309 BU738132 AA234624 AK093882 

    GeneLoc Exon Structure


    (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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    UCHL3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGAAACTAG
    UCHL3 Expression
    About this image

    UCHL3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UCHL3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.162241

    UniProtKB/Swiss-Prot: UCHL3_HUMAN, P15374
    Tissue specificity: Highly expressed in heart, skeletal muscle, and testis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including UCHL3: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UCHL3

    (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 UCHL3 gene from Selected species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Uchl31 , 5 ubiquitin carboxyl-terminal esterase L3 (ubiquitin more1, 5 90.43(n)1
    98.26(a)1
      14 (50.90 cM)5
    509331  NM_016723.21  NP_057932.21 
     1016539675 
    chicken
    (Gallus gallus)
    Aves UCHL31 ubiquitin carboxyl-terminal esterase L3 (ubiquitin more 82.9(n)
    86.09(a)
      395626  NM_204825.1  NP_990156.1 
    lizard
    (Anolis carolinensis)
    Reptilia UCHL36
    ubiquitin carboxyl-terminal esterase L3 (ubiquitin...
    83(a)
    1 ↔ 1
    3(87307060-87335897)
    African clawed frog
    (Xenopus laevis)
    Amphibia BX850313.12   -- 79.9(n)    BX850313.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.168892 Transcribed sequence with moderate similarity to protein more 73.78(n)    57072038 
    fruit fly
    (Drosophila melanogaster)
    Insecta Uch1 , 3 protein deubiquitination ubiquitin
    C-terminal more3
    Ubiquitin carboxy-terminal hydrolase1
    50(a)3
    55.11(n)1
    51.35(a)1
      22D43
    333971  NM_001201752.21  NP_001188681.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F46E10.83 ubiquitin carboxyl-terminal hydrolase 40(a)   V(6512593-6514112)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YUH1(YJR099W)4
    YUH11
    Ubiquitin C-terminal hydrolase that cleaves ubiquitin-protein more4
    YUH11
    49.33(n)1
    40.46(a)1
      10(615576-616286)4
    8535621, 4  NP_012633.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons UCH31 UCH3 55.91(n)
    52.27(a)
      827466  NM_117857.2  NP_193484.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g06545001 Os02g0654500 52.82(n)
    49.32(a)
      4330187  NM_001054147.1  NP_001047612.1 


    ENSEMBL Gene Tree for UCHL3 (if available)
    TreeFam Gene Tree for UCHL3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for UCHL3 gene
    UCHL12  
    1 SIMAP similar gene for UCHL3 using alignment to 4 protein entries:     UCHL3_HUMAN (see all proteins):
    UCHL1

    Find genes that share paralogs with UCHL3           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 UCHL3 (see all 1126)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs675327281,2
    C--56834676(+) ATCCT-/TTA   
       TGTAT
    GTATG
    2 -- int11Minor allele frequency- TTATGTAT:0.00NA 2
    rs95439721,2
    C,F--76121675(+) GGCTCC/TGTCTC 1 -- us2k110Minor allele frequency- T:0.22WA NA CSA EA 371
    rs1847390721,2
    C--76121820(+) CCAGAC/TGGTGG 1 -- us2k10--------
    rs1907880911,2
    --76121884(+) TTTTAC/TGGGTC 1 -- us2k10--------
    rs128578051,2
    H--76121912(+) ctaggA/Ccaacc 2 -- us2k14Minor allele frequency- C:0.00NS EA 418
    rs1817051231,2
    --76122051(+) TATTGC/GGTGGT 2 -- us2k10--------
    rs95735831,2
    C,H--76122080(+) gagtgG/Tatccc 2 -- us2k116Minor allele frequency- T:0.01NS EA NA WA CSA 643
    rs1162251801,2
    F--76122143(+) TGTCCG/AGCCTT 2 -- us2k11Minor allele frequency- A:0.01WA 118
    rs1395273401,2
    --76122173(+) GCTGCC/TAGTGT 2 -- us2k10--------
    rs1870762361,2
    --76122316(+) ACTGAA/GTCCAG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for UCHL3 (76123619 - 76180085 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for UCHL3 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2747673CNV Deletion23290073
    esv2747672CNV Deletion23290073
    esv2747671CNV Deletion23290073
    nsv1090CNV Insertion18451855
    esv2751152CNV Loss17911159
    dgv1692n71CNV Loss21882294
    nsv900578CNV Loss21882294
    dgv1693n71CNV Loss21882294
    nsv900562CNV Loss21882294
    dgv1695n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing UCHL3
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603090    OMIM disorders: --


    Find genes that share disorders with UCHL3           About GenesLikeMe

    1 Novoseek inferred disease relationship for UCHL3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 8 16734731 (5)

    Genetic Association Database (GAD): UCHL3
    Human Genome Epidemiology (HuGE) Navigator: UCHL3 (1 document)

    Export disorders for UCHL3 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 UCHL3 gene, integrated from 10 sources (see all 68):
    (articles sorted by number of sources associating them with UCHL3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The neuron-specific protein PGP 9.5 is a ubiquitin carboxyl-terminal hydrolase. (PubMed id 2530630)1, 2, 3 Wilkinson K.D....Pohl J. (Science 1989)
    2. Cleavage of the C-terminus of NEDD8 by UCH-L3. (PubMed id 9790970)1, 2, 9 Wada H.... Kamitani T. (Biochem. Biophys. Res. Commun. 1998)
    3. Crystal structure of a deubiquitinating enzyme (human UCH-L3) at 1.8- A resolution. (PubMed id 9233788)1, 2, 9 Johnston S.C.... Hill C.P. (EMBO J. 1997)
    4. Molecular profiling of the immune response in colon cancer using protein microarrays: occurrence of autoantibodies to ubiquitin C- terminal hydrolase L3. (PubMed id 14595809)1, 2, 9 Nam M.J.... Hanash S.M. (Proteomics 2003)
    5. Mutant ubiquitin (UBB(+1)) associated with neurodegenerative disorders is hydrolyzed by ubiquitin C-terminal hydrolase L3 (UCH- L3). (PubMed id 21762696)1, 2 Dennissen F.J.... van Leeuwen F.W. (FEBS Lett. 2011)
    6. Ubiquitin dimers control the hydrolase activity of UCH-L3. (PubMed id 19154770)1, 2 Setsuie R.... Wada K. (Neurochem. Int. 2009)
    7. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PubMed id 19343046)1, 4 Saito A....Kamatani N. (J. Hum. Genet. 2009)
    8. Structure of the ubiquitin hydrolase UCH-L3 complexed with a suicide substrate. (PubMed id 15531586)1, 2 Misaghi S....Gaudet R. (J. Biol. Chem. 2005)
    9. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (Nature 2004)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 7347 HGNC: 12515 AceView: UCHL3 Ensembl:ENSG00000118939 euGenes: HUgn7347
    ECgene: UCHL3 H-InvDB: UCHL3

    (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 UCHL3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for UCHL3 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for UCHL3 gene:
    Search GeneIP for patents involving UCHL3

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



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