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UCHL5 Gene

protein-coding   GIFtS: 59
GCID: GC01M192984

Ubiquitin Carboxyl-Terminal Hydrolase L5

  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)
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Aliases
Ubiquitin Carboxyl-Terminal Hydrolase L51 2     EC 3.4.19.123 8
UCH372 3 5     CGI-702
INO80 Complex Subunit R1 2     INO80R2
Ubiquitin C-Terminal Hydrolase UCH372 3     Ubiquitin Carboxyl-Terminal Esterase L52
Ubiquitin Thioesterase L52 3     Ubiquitin Carboxyl-Terminal Hydrolase Isozyme L52
UCH-L52 3     

External Ids:    HGNC: 196781   Entrez Gene: 513772   Ensembl: ENSG000001167507   OMIM: 6106675   UniProtKB: Q9Y5K53   

Export aliases for UCHL5 gene to outside databases

Previous GC identifers: GC01M188499 GC01M189450 GC01M190273 GC01M189716 GC01M191251 GC01M164220


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for UCHL5 Gene:
UCHL5 (ubiquitin carboxyl-terminal hydrolase L5) is a protein-coding gene. Diseases associated with UCHL5 include sipple syndrome, and parathyroid carcinoma. GO annotations related to this gene include endopeptidase inhibitor activity and ubiquitin thiolesterase activity. An important paralog of this gene is BAP1.

UniProtKB/Swiss-Prot: UCHL5_HUMAN, Q9Y5K5
Function: Protease that specifically cleaves 'Lys-48'-linked polyubiquitin chains. Deubiquitinating enzyme
associated with the 19S regulatory subunit of the 26S proteasome. Putative regulatory component of the INO80
complex; however is inactive in the INO80 complex and is activated by a transient interaction of the INO80
complex with the proteasome via ADRM1

Gene Wiki entry for UCHL5 (Ubiquitin carboxyl-terminal hydrolase L5) 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:
NC_000001.11  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the UCHL5 gene promoter:
         Max1   Pax-6   IRF-1   AP-2gamma   FOXJ2 (long isoform)   AP-2beta   FOXJ2   AP-2alpha   c-Myc   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUCHL5 promoter sequence
   Search Chromatin IP Primers for UCHL5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UCHL5


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

Entrez Gene cytogenetic band: 1q32   Ensembl cytogenetic band:  1q31.2   HGNC cytogenetic band: 1q32

UCHL5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UCHL5 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M192984:  view genomic region     (about GC identifiers)

Start:
192,981,380 bp from pter      End:
193,029,237 bp from pter
Size:
47,858 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: UCHL5_HUMAN, Q9Y5K5 (See protein sequence)
Recommended Name: Ubiquitin carboxyl-terminal hydrolase isozyme L5  
Size: 329 amino acids; 37607 Da
Subunit: Component of the 19S (PA700) regulatory complex of the 26S proteasome. Interacts with ADRM1 and NFRKB; in
vitro ADRM1 and NFRKB compete for interaction with UCHL5. Component of the INO80 complex; specifically part of a
complex module associated with N-terminus of INO80
5 PDB 3D structures from and Proteopedia for UCHL5:
3A7S (3D)        3IHR (3D)        3RII (3D)        3RIS (3D)        3TB3 (3D)    
Secondary accessions: Q5LJA6 Q5LJA7 Q8TBS4 Q96BJ9 Q9H1W5 Q9P0I3 Q9UQN2
Alternative splicing: 4 isoforms:  Q9Y5K5-1   Q9Y5K5-2   Q9Y5K5-3   Q9Y5K5-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for UCHL5: NX_Q9Y5K5

Explore proteomics data for UCHL5 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys47, Lys154, Lys158, Lys206, Lys210, Lys234, Lys277, Lys282, Lys315
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for UCHL5 (Q9Y5K5) (see all 6)
     ENIRRKHN  QKYSEGEI  ESDPGVFTE  LSAIQSEVA 


    See UCHL5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001186190.1  NP_001186191.1  NP_001186192.1  NP_057068.1  

    ENSEMBL proteins: 
     ENSP00000356425   ENSP00000408720   ENSP00000356424   ENSP00000402847   ENSP00000356420  
     ENSP00000356421   ENSP00000356418   ENSP00000356419   ENSP00000391153   ENSP00000392416  
     ENSP00000389563   ENSP00000412265   ENSP00000356422   ENSP00000431171  
    Reactome Protein details: Q9Y5K5

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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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    HGNC Gene Families:
    INO80: INO80 complex subunits

    2 InterPro protein domains:
     IPR001578 Peptidase_C12_UCH
     IPR017390 Ubiquitinyl_hydrolase_UCH37

    Graphical View of Domain Structure for InterPro Entry Q9Y5K5

    ProtoNet protein and cluster: Q9Y5K5

    1 Blocks protein domain: IPB001578 Ubiquitin carboxyl-terminal hydrolase

    UniProtKB/Swiss-Prot: UCHL5_HUMAN, Q9Y5K5
    Similarity: Belongs to the peptidase C12 family


    UCHL5 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UCHL5_HUMAN, Q9Y5K5
    Function: Protease that specifically cleaves 'Lys-48'-linked polyubiquitin chains. Deubiquitinating enzyme
    associated with the 19S regulatory subunit of the 26S proteasome. Putative regulatory component of the INO80
    complex; however is inactive in the INO80 complex and is activated by a transient interaction of the INO80
    complex with the proteasome via ADRM1
    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: Activated by ADRM1. Inhibited by interaction with NFRKB

         Enzyme Number (IUBMB): EC 3.4.19.121 2

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004221ubiquitin thiolesterase activity ----
    GO:0004843ubiquitin-specific protease activity IDA18922472
    GO:0004866endopeptidase inhibitor activity IMP18162577
    GO:0005515protein binding IPI11163772
    GO:0008242omega peptidase activity IEA--
         
    UCHL5 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for UCHL5:
     Decreased Salmonella enterica   Synthetic lethal with Ras 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Uchl5):
     cellular  embryogenesis  growth/size/body  mortality/aging  nervous system 

    UCHL5 for phenotypes           About GeneDecksing

    Animal Models:
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    hsa-miR-21* hsa-miR-607 hsa-let-7d hsa-miR-4328 hsa-miR-192 hsa-miR-570 hsa-miR-502-3p hsa-let-7g
    SwitchGear 3'UTR luciferase reporter plasmidUCHL5 3' UTR sequence
    Inhib. RNA
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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
    UCHL5_HUMAN, Q9Y5K5: Cytoplasm. Nucleus. Note=Associates with the proteasome 19S subunit in the cytoplasm.
    Associates with the INO80 complex in the nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    nucleus5
    cytoskeleton1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000502proteasome complex IEA--
    GO:0005622intracellular ----
    GO:0005634nucleus IDA18922472
    GO:0005737cytoplasm ----
    GO:0005829cytosol IDA18922472

    UCHL5 for ontologies           About GeneDecksing


    (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 UCHL5 About    
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Loss of Function of SMAD2/3 in Cancer
    Loss of Function of SMAD2/3 in Cancer0.60
    TGFBR1 KD Mutants in Cancer0.60
    Loss of Function of SMAD4 in Cancer0.60
    SMAD2/3 MH2 Domain Mutants in Cancer0.60
    TGFBR2 MSI Frameshift Mutants in Cancer0.60
    SMAD2/3 Phosphorylation Motif Mutants in Cancer0.60
    Signaling by TGF-beta Receptor Complex in Cancer0.60
    SMAD4 MH2 Domain Mutants in Cancer0.60
    2TGF-beta receptor signaling activates SMADs
    Downregulation of TGF-beta receptor signaling0.82
    TGF-beta receptor signaling activates SMADs0.82
    3Signaling by GPCR
    Signal Transduction0.58
    4Disease
    Disease

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for UCHL5
        Downregulation of TGF-beta receptor signaling



    UCHL5 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for UCHL5
    Interactions:

        GeneGlobe Interaction Network for UCHL5

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

    Selected Interacting proteins for UCHL5 (Q9Y5K51, 2, 3 ENSP000003564254) via UniProtKB, MINT, STRING, and/or I2D (see all 966)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADRM1Q161861, 2, 3, ENSP000002530034EBI-1051183,EBI-954387 MINT-3373742 MINT-4050637 MINT-4050597 MINT-4050618 MINT-3373565 MINT-4050661 MINT-4050722 MINT-3373718 MINT-3373835 MINT-3373811 I2D: score=5 STRING: ENSP00000253003
    HIST1H4AP628053, ENSP000003529804I2D: score=14 STRING: ENSP00000352980
    HIST1H4CP628053, ENSP000003670344I2D: score=14 STRING: ENSP00000367034
    HIST1H4DP628053, ENSP000003432824I2D: score=14 STRING: ENSP00000343282
    HIST1H4EP628053, ENSP000003536244I2D: score=14 STRING: ENSP00000353624
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006281DNA repair IEA--
    GO:0006310DNA recombination IEA--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--
    GO:0006511ubiquitin-dependent protein catabolic process IEA--

    UCHL5 for ontologies           About GeneDecksing



    (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 UCHL5



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for UCHL5 gene (4 alternative transcripts): 
    NM_001199261.1  NM_001199262.1  NM_001199263.1  NM_015984.3  

    Unigene Cluster for UCHL5:

    Ubiquitin carboxyl-terminal hydrolase L5
    Hs.145469  [show with all ESTs]
    Unigene Representative Sequence: NM_015984
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367455(uc001gsm.3 uc001gsn.3) ENST00000420791 ENST00000367454(uc001gso.3 uc010pov.2)
    ENST00000449480 ENST00000367450 ENST00000367451 ENST00000367448(uc001gsp.3)
    ENST00000367449(uc001gsq.3) ENST00000443327 ENST00000416915 ENST00000421683
    ENST00000483156 ENST00000417752 ENST00000367452(uc010pow.1) ENST00000530098(uc010pox.2)

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    hsa-miR-21* hsa-miR-607 hsa-let-7d hsa-miR-4328 hsa-miR-192 hsa-miR-570 hsa-miR-502-3p hsa-let-7g
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      QuantiTect SYBR Green Assays in human, mouse, rat UCHL5
      QuantiFast Probe-based Assays in human, mouse, rat UCHL5

    Additional mRNA sequence: 

    AF147717.1 AF151828.1 AF157320.1 AK024751.1 AK123655.1 AK225794.1 AK296487.1 AK301381.1 
    AK314445.1 AK316064.1 BC015381.1 BC015521.1 BC025369.2 BT006790.1 NR_037607.1 

    19 DOTS entries:

    DT.413192  DT.100852894  DT.451993  DT.100802792  DT.95271248  DT.100657698  DT.92031871  DT.92066219 
    DT.121333259  DT.121333263  DT.121333266  DT.121333335  DT.442349  DT.75106208  DT.95271250  DT.95356535 
    DT.121333232  DT.75158724  DT.95247667 

    Selected AceView cDNA sequences (see all 196):

    AI278259 BE220837 CK903488 BM739400 BQ049223 CB164008 BU194202 BQ068400 
    BX111590 AV708652 BX484791 CB155982 BM715951 AA232488 AK024751 AI571266 
    CB164771 BC025369 BX461713 BC015521 CK903489 CB126041 BE894465 BE910315 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for UCHL5 (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c · 15d
    SP1:                                            -     -                                   -                                                               
    SP2:                                            -     -                                   -                       -                                       
    SP3:                                            -     -                                   -                       -     -     -                           
    SP4:                                            -     -                                   -                       -     -     -                           
    SP5:                                                                                                              -     -     -                           


    ECgene alternative splicing isoforms for UCHL5

    (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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    UCHL5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    UCHL5 Expression
    About this image


    UCHL5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Thymus (Hematopoietic System)
             Thymus
     
     Heart (Cardiovascular System)
             Atrioventricular Canal Cells Atrioventricular Canal
     
     Liver (Hepatobiliary System)
             Liver Lobule
    UCHL5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UCHL5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.145469
        Custom PCR Arrays for UCHL5
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UCHL5

    (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

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for UCHL5 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Uchl51 , 5 ubiquitin carboxyl-terminal esterase L51, 5 90.88(n)1
    96.96(a)1
      1 (62.54 cM)5
    562071  NM_019562.21  NP_062508.21 
     1437772785 
    chicken
    (Gallus gallus)
    Aves UCHL51 ubiquitin carboxyl-terminal hydrolase L5 84.82(n)
    93.84(a)
      424359  NM_001006530.1  NP_001006530.1 
    lizard
    (Anolis carolinensis)
    Reptilia UCHL56
    ubiquitin carboxyl-terminal hydrolase L5
    94(a)
    1 ↔ 1
    GL343267.1(1246898-1267947)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX761416.12   -- 78.89(n)    BX761416.1 
    zebrafish
    (Danio rerio)
    Actinopterygii uchl51 ubiquitin carboxyl-terminal hydrolase L5 74.67(n)
    88.75(a)
      406357  NM_213084.1  NP_998249.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Uch-L31 Ubiquitin C-terminal hydrolase 59.12(n)
    62.58(a)
      39102  NM_079279.3  NP_524003.1 
    worm
    (Caenorhabditis elegans)
    Secernentea ubh-41 ubh-4 54.69(n)
    50.17(a)
      174289  NM_063283.4  NP_495684.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons UCH21 UCH2 55.52(n)
    52.6(a)
      842876  NM_105238.2  NP_564858.1 
    rice
    (Oryza sativa)
    Liliopsida AK104700.12   -- 74.2(n)    AK104700.1 


    ENSEMBL Gene Tree for UCHL5 (if available)
    TreeFam Gene Tree for UCHL5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for UCHL5 gene
    BAP12  
    1 SIMAP similar gene for UCHL5 using alignment to 11 protein entries:     UCHL5_HUMAN (see all proteins):
    BAP1

    UCHL5 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for UCHL5
    PGOHUM00000259758


    (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 UCHL5 (see all 644)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1451914891,2
    --192981137(+) GTCTTC/TTGGGT 2 -- ds50010--------
    rs2018299811,2
    C--192981182(+) CAGCTA/TTNNNN 2 -- ds50010--------
    rs1810075041,2
    --192981337(+) GGCGGC/GGGACA 2 -- ds50010--------
    rs1487239271,2
    --192981366(+) AAATAC/TACCTA 2 -- ds50010--------
    rs1863876231,2
    --192981400(+) TATGGC/TTTATT 2 -- ds50010--------
    rs561991521,2
    C,F--192981433(+) CAAGAA/GAGAAT 2 -- ds50012Minor allele frequency- G:0.12WA 120
    rs1911454621,2
    --192981539(+) TCATAC/TTGACA 2 -- ut310--------
    rs1835517651,2
    --192981575(+) CATCAA/GACATG 2 -- ut310--------
    rs1868105051,2
    --192981577(+) TCAAAC/GATGAT 2 -- ut310--------
    rs1144756541,2
    F--192981655(+) CAGTGT/CTAGTT 2 -- ut311Minor allele frequency- C:0.01NA 120

    HapMap Linkage Disequilibrium report for UCHL5 (192981380 - 193029237 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for UCHL5:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv498699CNV Loss21111241
    nsv3966CNV Loss18451855
    nsv466994CNV Loss19166990

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing UCHL5
    DNA2.0 Custom Variant and Variant Library Synthesis for UCHL5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610667    OMIM disorders: --

    9 diseases for UCHL5:    
    About MalaCards
    sipple syndrome    parathyroid carcinoma    cannabis dependence    esophageal squamous cell carcinoma
    esophagitis    squamous cell carcinoma    cervicitis    hepatocellular carcinoma
    malaria


    UCHL5 for disorders           About GeneDecksing

    Genetic Association Database (GAD): UCHL5

    Export disorders for UCHL5 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 UCHL5 gene, integrated from 10 sources (see all 59):
    (articles sorted by number of sources associating them with UCHL5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)1, 2, 3 Lai C.-H.... Lin W.-C. (Genome Res. 2000)
    2. Proteasome recruitment and activation of the Uch37 deubiquitinating enzyme by Adrm1. (PubMed id 16906146)1, 2, 9 Yao T.... Cohen R.E. (Nat. Cell Biol. 2006)
    3. The deubiquitinating enzyme UCH37 interacts with Smads and regulates TGF-beta signalling. (PubMed id 16027725)1, 3, 9 Wicks S.J....Chantry A. (Oncogene 2005)
    4. A genome-wide association study of DSM-IV cannabis dependence. (PubMed id 21668797)1, 4 Agrawal A....Bierut L.J. (Addict Biol 2011)
    5. Subunit organization of the human INO80 chromatin remodeling complex: An evolutionarily conserved core complex catalyzes ATP-dependent nucleosome remodeling. (PubMed id 21303910)1, 2 Chen L.... Conaway R.C. (J. Biol. Chem. 2011)
    6. Crystal structure of the de-ubiquitinating enzyme UCH37 (human UCH- L5) catalytic domain. (PubMed id 19836345)1, 2 Nishio K.... Morimoto Y. (Biochem. Biophys. Res. Commun. 2009)
    7. Distinct modes of regulation of the Uch37 deubiquitinating enzyme in the proteasome and in the Ino80 chromatin-remodeling complex. (PubMed id 18922472)1, 2 Yao T.... Conaway J.W. (Mol. Cell 2008)
    8. hRpn13/ADRM1/GP110 is a novel proteasome subunit that binds the deubiquitinating enzyme, UCH37. (PubMed id 17139257)1, 2 Qiu X.-B.... Goldberg A.L. (EMBO J. 2006)
    9. A novel proteasome-interacting protein recruits the deubiquitinating enzyme UCH37 to 26S proteasomes. (PubMed id 16990800)1, 2 Hamazaki J....Murata S. (EMBO J. 2006)
    10. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)

    (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: 51377 HGNC: 19678 AceView: UCHL5 Ensembl:ENSG00000116750 euGenes: HUgn51377
    ECgene: UCHL5 H-InvDB: UCHL5

    (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 UCHL5 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 UCHL5 gene:
    Search GeneIP for patents involving UCHL5

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



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