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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

UCHL3 Gene

protein-coding   GIFtS: 64
GCID: GC13P076123

Ubiquitin Carboxyl-Terminal Esterase L3 (Ubiquitin Thiolesterase)

Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. Diseases associated with UCHL3 include cytochrome p450, and parkinson's disease, and among its related super-pathways are ER-Phagosome pathway and Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NT_024524.14  NC_018924.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for UCHL3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Cytoplasm
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P15374

  • UCHL3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    UCHL3 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001257881.1  NP_005993.1  

    ENSEMBL proteins: 
     ENSP00000366819   ENSP00000398189  

    Human Recombinant Protein Products for UCHL3: 
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    OriGene Purified Protein for UCHL3
    OriGene Protein Over-expression Lysate for UCHL3
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    Novus Biologicals UCHL3 Proteins
    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 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

    UCHL3 for ontologies           About GeneDecksing



    UCHL3 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR001578 Peptidase_C12

    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


    UCHL3 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004221ubiquitin thiolesterase activity TAS2530630
    GO:0005515protein binding IPI--
    GO:0008233peptidase activity IDA--
    GO:0008234cysteine-type peptidase activity IEA--
    GO:0043130ubiquitin binding IDA19154770
         
    UCHL3 for ontologies           About GeneDecksing


    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 
     immune system  mortality/aging  muscle  nervous system  reproductive system 
     vision/eye 

    UCHL3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Uchl3tm1Tilg for UCHL3

       inGenious Targeting Laboratory - Custom generated mouse model solutions for UCHL3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for UCHL3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for UCHL3 
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    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate UCHL3:
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    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for UCHL3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1CDK-mediated phosphorylation and removal of Cdc6
    Proteasome Degradation0.57
    2Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase
    Common schema of ubiquitination0.36
    3Protein Stability
    Protein Stability
    4Neuroscience
    Neuroscience

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for UCHL3
        Common schema of ubiquitination


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

    1 BioSystems Pathway for UCHL3
        Proteasome Degradation




    UCHL3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for UCHL3

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

    5/37 Interacting proteins for UCHL3 (P153742, 3 ENSP000003668194) via UniProtKB, MINT, STRING, and/or I2D (see all 37)
    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
    SMAD1Q157972, 3, ENSP000003057694MINT-8149667 MINT-8149655 I2D: score=3 STRING: ENSP00000305769
    UBA52P629873, ENSP000003881074I2D: score=3 STRING: ENSP00000388107
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

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

    UCHL3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    UCHL3 for compounds           About GeneDecksing

    EMD Millipore small molecules for UCHL3:
    Small Molecule - inhibitor
    Enzo Life Sciences drugs & compounds for UCHL3

    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)

    Search CenterWatch for drugs/clinical trials and news about UCHL3

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    1 QIAGEN miScript miRNA Assays for microRNA that regulate UCHL3:
    hsa-miR-4282
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat UCHL3
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    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 

    24/105 AceView cDNA sequences (see all 105):

    CF529886 CA307428 CA422125 CD108176 BU615191 BQ447804 CA309382 AW149160 
    BG741988 CD367748 BG939578 BU681570 AI360639 CR610104 AI218291 AI492170 
    N27190 BU945230 AW262998 CA438517 AL548116 CK823660 AI887597 AL705940 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See UCHL3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UCHL3

    SOURCE GeneReport for Unigene cluster: Hs.162241

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

        SABiosciences Expression via Pathway-Focused PCR Arrays including UCHL3: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat

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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for UCHL3 gene from 10/26 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
    Uncharacterized protein
    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_001201752.11  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
    Yuh1p1
    47.35(n)1
    36.45(a)1
      10(615576-616286)4
    8535621, 4  NP_012633.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons UCH31 ubiquitin C-terminal hydrolase 3 55.91(n)
    52.27(a)
      827466  NM_117857.2  NP_193484.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g06545001 hypothetical protein 51.87(n)
    47.09(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)
    About This Section
    Paralogs for UCHL3 gene
    UCHL12  
    1 SIMAP similar gene for UCHL3 using alignment to 4 protein entries:     UCHL3_HUMAN (see all proteins):
    UCHL1

    UCHL3 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1126 SNPs in UCHL3 are shown (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) 10/14 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

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing UCHL3
    DNA2.0 Custom Variant and Variant Library Synthesis for UCHL3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603090    OMIM disorders: --

    7 diseases for UCHL3:    About MalaCards
    cytochrome p450    parkinson's disease    colon cancer    cervicitis
    retinitis    breast cancer    neuronitis


    UCHL3 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    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)
    About This Section

    PubMed articles for UCHL3 gene, integrated from 9 sources (see all 68) (see top 10):
    (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. (1989)
    2. Cleavage of the C-terminus of NEDD8 by UCH-L3. (PubMed id 9790970)1, 2, 9 Wada H.... Kamitani T. (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. (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. (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. (2011)
    6. Ubiquitin dimers control the hydrolase activity of UC H-L3. (PubMed id 19154770)1, 2 Setsuie R....Wada K. (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. (2009)
    8. Structure of the ubiquitin hydrolase UCH-L3 complexed with a suicide substrate. (PubMed id 15531586)1, 2 Misaghi S....Gaudet R. (2005)
    9. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (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. (2004)
    11. The binding site for UCH-L3 on ubiquitin: mutagenesis and NMR studies on the complex between ubiquitin and UCH-L3. (PubMed id 10518943)1, 9 Wilkinson K.D....Wand A.J. (1999)
    12. Molecular cloning of chick UCH-6 which shares high similarity with human UCH-L3: its unusual substrate specificity and tissue distribution. (PubMed id 10527871)1, 9 Baek S.H....Chung C.H. (1999)
    13. Untangling the folding mechanism of the 5(2)-knotted protein UCH-L3. (PubMed id 19476499)1, 9 Andersson F.I....Jackson S.E. (2009)
    14. Substrate profiling of deubiquitin hydrolases with a positional scanning library and mass spectrometry. (PubMed id 15157086)2, 9 Mason D.E....Harris J.L. (2004)
    15. Activity profiling of deubiquitinating enzymes in cervical carcinoma biopsies and cell lines. (PubMed id 16402389)1, 9 Rolen U....Masucci M.G. (2006)
    16. Conformational dynamics control ubiquitin-deubiquitina se interactions and influence in vivo signaling. (PubMed id 23801757)1 Phillips A.H....Corn J.E. (2013)
    17. Genome-wide association study in a Chinese population with diabetic retinopathy. (PubMed id 23562823)1 Sheu W.H....Chen Y.D. (2013)
    18. Bcl2-associated Athanogene 3 Interactome Analysis Reve als a New Role in Modulating Proteasome Activity. (PubMed id 23824909)1 Chen Y....Ge F. (2013)
    19. A novel RNAi lethality rescue screen to identify regul ators of adipogenesis. (PubMed id 22679485)1 van Beekum O....Kalkhoven E. (2012)
    20. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    21. Chalcone-based small-molecule inhibitors attenuate mal ignant phenotype via targeting deubiquitinating enzymes. (PubMed id 22510564)1 Issaenko O.A. and Amerik A.Y. (2012)
    22. A microarray of ubiquitylated proteins for profiling d eubiquitylase activity reveals the critical roles of both chain and substrate. (PubMed id 22626734)1 Loch C.M. and Strickler J.E. (2012)
    23. Proteome-wide identification of ubiquitylation sites b y conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (2012)
    24. Profiling ubiquitin linkage specificities of deubiquitinating enzymes with branched ubiquitin isopeptide probes. (PubMed id 22689415)2 Iphofer A.... Franke R. (2012)
    25. Contribution of active site glutamine to rate enhancem ent in ubiquitin C-terminal hydrolases. (PubMed id 22284438)1 Boudreaux D.A....Das C. (2012)
    26. Targeting deubiquitinases enabled by chemical synthesi s of proteins. (PubMed id 22279964)1 Ohayon S....Brik A. (2012)
    27. Direct and indirect control of mitogen-activated prote in kinase pathway-associated components, BRAP/IMP E3 ubiquitin ligase and CRAF/R AF1 kinase, by the deubiquitylating enzyme USP15. (PubMed id 23105109)1 Hayes S.D....Urbe S. (2012)
    28. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    29. Activity-based chemical proteomics accelerates inhibi tor development for deubiquitylating enzymes. (PubMed id 22118674)1 Altun M....Kessler B.M. (2011)
    30. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    31. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
    32. Expeditious chemical synthesis of ubiquitinated peptid es employing orthogonal protection and native chemical ligation. (PubMed id 21235224)1 Kumar K.S....Brik A. (2011)
    33. Ubiquitin C-terminal hydrolase-L3 regulates Smad1 ubi quitination and osteoblast differentiation. (PubMed id 21453705)1 Kim J.Y....Cho J.Y. (2011)
    34. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    35. A fluorescence assay for elucidating the substrate spe cificities of deubiquitinating enzymes. (PubMed id 22086173)1 Yin S.T....Hu H.Y. (2011)
    36. Global analysis of lysine ubiquitination by ubiquitin remnant immunoaffinity profiling. (PubMed id 20639865)1 Xu G....Jaffrey S.R. (2010)
    37. Skeletal muscles of Uchl3 knockout mice show polyubiquitinated protein accumulation and stress responses. (PubMed id 20380862)2 Setsuie R.... Wada K. (2010)
    38. Lys11-linked ubiquitin chains adopt compact conformat ions and are preferentially hydrolyzed by the deubiquitinase Cezanne. (PubMed id 20622874)1 Bremm A....Komander D. (2010)
    39. Defining the human deubiquitinating enzyme interactio n landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (2009)
    40. Substrate filtering by the active site crossover loop in UCHL3 revealed by sortagging and gain-of-function mutations. (PubMed id 19047059)1 Popp M.W....Ploegh H.L. (2009)
    41. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    42. Quantitative analysis of global ubiquitination in HeLa cells by mass spectrometry. (PubMed id 18781797)1 Meierhofer D.... Kaiser P. (2008)
    43. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    44. ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. (PubMed id 17525332)2 Matsuoka S.... Elledge S.J. (2007)
    45. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    46. Backbone 1H, 13C, and 15N resonance assignments for t he 26-kD human de-ubiquitinating enzyme UCH-L3. (PubMed id 19636824)1 Harris R....Driscoll P.C. (2007)
    47. Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study. (PubMed id 17903294)4 Yang Q....O'Donnell C.J. (2007)
    48. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. (PubMed id 16713569)1 Lim J.... Zoghbi H.Y. (2006)
    49. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    50. Analysis of Nedd8-associated polypeptides: a model for deciphering the pathway for ubiquitin-like modifications. (PubMed id 16503656)1 Norman J.A. and Shiekhattar R. (2006)
    51. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    52. Specific and covalent targeting of conjugating and dec onjugating enzymes of ubiquitin-like proteins. (PubMed id 14673145)1 Hemelaar J....Ovaa H. (2004)
    53. Catalog of 680 variations among eight cytochrome p450 (CYP) genes, nine esterase genes, and two other genes in the Japanese population. (PubMed id 12721789)1 Saito S....Nakamura Y. (2003)
    54. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    55. High expression of ubiquitin carboxy-terminal hydrolase-L1 and -L3 mRNA predicts early recurrence in patients with invasive breast cancer. (PubMed id 16734731)9 Miyoshi Y....Noguchi S. (2006)
    56. Cloning, expression, and mapping of a mouse gene, Uchl4, highly homologous to human and mouse Uchl3. (PubMed id 11341770)9 Osawa Y....Wada K. (2001)
    57. A sensitive fluorescence intensity assay for deubiquitinating proteases using ubiquitin-rhodamine110-glycine as substrate. (PubMed id 17869210)9 Hassiepen U....Martoglio B. (2007)
    58. The deubiquitinating enzyme UCH-L3 regulates the apical membrane recycling of the epithelial sodium channel. (PubMed id 17967898)9 Butterworth M.B....Frizzell R.A. (2007)
    59. UCHL1 (PGP 9.5): neuronal biomarker and ubiquitin sys tem protein. (PubMed id 19879917)9 Day I.N. and Thompson R.J. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7347 HGNC: 12515 AceView: UCHL3 Ensembl:ENSG00000118939 euGenes: HUgn7347
    ECgene: UCHL3 H-InvDB: UCHL3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    Patent Information for UCHL3 gene:
    Search GeneIP for patents involving UCHL3

    GeneCards and IP:
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