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

UCHL1 Gene

protein-coding   GIFtS: 71
GCID: GC04P041174

Ubiquitin Carboxyl-Terminal Esterase L1 (Ubiquitin Thiolesterase)


(Previous symbol: PARK5)
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 L1 (Ubiquitin Thiolesterase)1 2     Uch-L12
PARK51 2 5     Ubiquitin C-Terminal Hydrolase2
Neuron Cytoplasmic Protein 9.52 3     Ubiquitin Carboxyl-Terminal Hydrolase Isozyme L12
Ubiquitin Thioesterase L12 3     EC 3.4.19.123
PGP9.52 3     EC 6.-.-.-3
PGP 9.52 3     UCH-L13
PGP952     

External Ids:    HGNC: 125131   Entrez Gene: 73452   Ensembl: ENSG000001542777   OMIM: 1913425   UniProtKB: P099363   

Export aliases for UCHL1 gene to outside databases

Previous GC identifers: GC04P041330 GC04P041542 GC04P041108 GC04P041099 GC04P040953 GC04P040580


(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 UCHL1 Gene:
The protein encoded by this gene belongs to the peptidase C12 family. This enzyme is a thiol protease that
hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin. This gene is specifically expressed in the
neurons and in cells of the diffuse neuroendocrine system. Mutations in this gene may be associated with
Parkinson disease.(provided by RefSeq, Sep 2009)

GeneCards Summary for UCHL1 Gene: 
UCHL1 (ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)) is a protein-coding gene. Diseases associated with UCHL1 include parkinson disease, resistance to, and parkinson disease 5, and among its related super-pathways are ER-Phagosome pathway and Electron Transport Chain. GO annotations related to this gene include cysteine-type endopeptidase activity and ubiquitin thiolesterase activity. An important paralog of this gene is UCHL3.

UniProtKB/Swiss-Prot: UCHL1_HUMAN, P09936
Function: Ubiquitin-protein hydrolase involved both in the processing of ubiquitin precursors and of ubiquitinated
proteins. This enzyme is a thiol protease that recognizes and hydrolyzes a peptide bond at the C-terminal glycine
of ubiquitin. Also binds to free monoubiquitin and may prevent its degradation in lysosomes. The homodimer may
have ATP-independent ubiquitin ligase activity

Gene Wiki entry for UCHL1 (Ubiquitin carboxy-terminal hydrolase L1) 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_000004.11  NT_006238.11  NC_018915.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the UCHL1 gene promoter:
         p53   AP-1   HTF   ATF-2   Cdc5   CREB   MZF-1   deltaCREB   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUCHL1 promoter sequence
   Search SABiosciences Chromatin IP Primers for UCHL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UCHL1


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

Entrez Gene cytogenetic band: 4p14   Ensembl cytogenetic band:  4p13   HGNC cytogenetic band: 4p13

UCHL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UCHL1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P041174:  view genomic region     (about GC identifiers)

Start:
41,258,430 bp from pter      End:
41,270,472 bp from pter
Size:
12,043 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: UCHL1_HUMAN, P09936 (See protein sequence)
Recommended Name: Ubiquitin carboxyl-terminal hydrolase isozyme L1 precursor  
Size: 223 amino acids; 24824 Da
Subunit: Monomer. Homodimer. Interacts with SNCA (By similarity). Interacts with COPS5
Subcellular location: Cytoplasm. Endoplasmic reticulum membrane; Lipid-anchor. Note=About 30% of total UCHL1 is
associated with membranes in brain
Miscellaneous: Oxidation of Met-1, Met-6, Met-12, Met-124 and Met-179 to methionine sulfoxide, and oxidation of
Cys-220 to cysteine sulfonic acid have been observed in brains from Alzheimer disease (AD) and Parkinson disease
(PD) patients. In AD, UCHL1 was found to be associated with neurofibrillary tangles. In contrast to UCHL3, does
not hydrolyze a peptide bond at the C-terminal glycine of NEDD8
Caution: PubMed:9774100 reports the association of mutation Ile93Met with Parkinson disease. However, according to
PubMed:16450370 this association is uncertain and UCHL1 is not a susceptibility gene for Parkinson disease
Sequence caution: Sequence=CAA28443.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
6/7 PDB 3D structures from and Proteopedia for UCHL1 (see all 7):
2ETL (3D)        2LEN (3D)        3IFW (3D)        3IRT (3D)        3KVF (3D)        3KW5 (3D)    
Secondary accessions: Q4W5K6 Q71UM0

Explore the universe of human proteins at neXtProt for UCHL1: NX_P09936

Explore proteomics data for UCHL1 at MOPED 

Post-translational modifications:

  • UniProtKB: O-glycosylated (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P09936

  • UCHL1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    UCHL1 Protein Expression
    REFSEQ proteins: NP_004172.2  
    ENSEMBL proteins: 
     ENSP00000426634   ENSP00000422542   ENSP00000284440   ENSP00000425714   ENSP00000423348  
     ENSP00000426895   ENSP00000423623  

    Human Recombinant Protein Products for UCHL1: 
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    R&D Systems Recombinant & Natural Proteins for UCHL1 (UCH-L1)
    Enzo Life Sciences proteins for UCHL1
    OriGene Purified Protein for UCHL1
    OriGene Protein Over-expression Lysate for UCHL1
    OriGene MassSpec for UCHL1 
    OriGene Custom Protein Services for UCHL1
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    Novus Biologicals UCHL1 Proteins
    Novus Biologicals UCHL1 Lysates
    Sino Biological Recombinant Protein for UCHL1
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for UCHL1
    Cloud-Clone Corp. Proteins for UCHL1 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm TAS16130169
    GO:0005789endoplasmic reticulum membrane IEA--

    UCHL1 for ontologies           About GeneDecksing



    UCHL1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of UCHL1
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    ThermoFisher Antibody for UCHL1
    LSBio Antibodies in human, mouse, rat for UCHL1 

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    Cloud-Clone Corp. ELISAs for UCHL1 
    Cloud-Clone Corp. CLIAs for UCHL1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PARK: Parkinson disease

    1 InterPro protein domain:
     IPR001578 Peptidase_C12

    Graphical View of Domain Structure for InterPro Entry P09936

    ProtoNet protein and cluster: P09936

    1 Blocks protein domain: IPB001578 Ubiquitin carboxyl-terminal hydrolase

    UniProtKB/Swiss-Prot: UCHL1_HUMAN, P09936
    Similarity: Belongs to the peptidase C12 family


    UCHL1 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: UCHL1_HUMAN, P09936
    Function: Ubiquitin-protein hydrolase involved both in the processing of ubiquitin precursors and of ubiquitinated
    proteins. This enzyme is a thiol protease that recognizes and hydrolyzes a peptide bond at the C-terminal glycine
    of ubiquitin. Also binds to free monoubiquitin and may prevent its degradation in lysosomes. The homodimer may
    have ATP-independent ubiquitin ligase activity
    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)
    Biophysicochemical properties: Kinetic parameters: KM=122 nM for Ub-AMC; KM=1.20 uM for ubiquitin ethyl ester;
    Vmax=0.47 umol/min/mg enzyme toward Ub-AMC; Vmax=25 umol/min/mg enzyme toward ubiquitin ethyl ester;

         Genatlas biochemistry entry for UCHL1:
    ubiquitin carboxy-terminal esterase L1,26.2kDa,abundantly expressed in the brain (neurons and neuroendocrin
    cells),also found in Lewy bodies,involved in the ubiquitin dependent proteolytic pathway,with a bifunctional
    regulatory DNA element contributing to neuron restricted transcription,overexpressed in non-small cell lung
    cancer

         Enzyme Numbers (IUBMB): EC 6.-.-.-1 EC 3.4.19.121

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004197cysteine-type endopeptidase activity IDA8639624
    GO:0004221ubiquitin thiolesterase activity TAS9521656
    GO:0005515protein binding IPI12082530
    GO:0008242omega peptidase activity IDA9521656
    GO:0016874ligase activity IEA--
         
    UCHL1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for UCHL1:
     Increased cell number in G2M,  

         13 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Uchl1):
     behavior/neurological  cardiovascular system  digestive/alimentary  growth/size  hematopoietic system 
     integument  limbs/digits/tail  liver/biliary system  mortality/aging  nervous system 
     renal/urinary system  respiratory system  skeleton 

    UCHL1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for UCHL1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for UCHL1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for UCHL1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for UCHL1 

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    4 QIAGEN miScript miRNA Assays for microRNAs that regulate UCHL1:
    hsa-miR-4291 hsa-miR-922 hsa-miR-561 hsa-miR-497*
    SwitchGear 3'UTR luciferase reporter plasmidUCHL1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UCHL1
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UCHL1


    (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 UCHL1 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1CDK-mediated phosphorylation and removal of Cdc6
    Proteasome Degradation0.57
    Parkinson's Disease Pathway0.31
    2Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Parkinson's disease0.61
    3Cell cycle Cell cycle (generic schema)
    Immune response MIF-JAB1 signaling0.32
    4Protein Stability
    Protein Stability
    5Neuroscience
    Neuroscience

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for UCHL1
        Immune response MIF-JAB1 signaling

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for UCHL1
        Parkinson's Disease Pathway

    2 Cell Signaling Technology (CST) Pathways for UCHL1
        Neuroscience
    Protein Stability

    1 GeneGo (Thomson Reuters) Pathway for UCHL1
        Immune response MIF-JAB1 signaling

    3 BioSystems Pathways for UCHL1
        Parkinsons Disease Pathway
    Proteasome Degradation
    Alpha-synuclein signaling



    1         Kegg Pathway  (Kegg details for UCHL1):
        Parkinson's disease


    UCHL1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for UCHL1

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

    5/53 Interacting proteins for UCHL1 (P099361, 2, 3 ENSP000002844404) via UniProtKB, MINT, STRING, and/or I2D (see all 53)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COPS5Q929051, 3, ENSP000003505124EBI-714860,EBI-594661 I2D: score=4 STRING: ENSP00000350512
    CBX1P839162, 3MINT-64014 I2D: score=5 
    SMN1Q166373, ENSP000003700834I2D: score=1 STRING: ENSP00000370083
    NEDD8Q158432, 3, ENSP000002504954MINT-64271 I2D: score=5 STRING: ENSP00000250495
    EGFRP005331, 3, ENSP000002754934EBI-714860,EBI-297353 I2D: score=2 STRING: ENSP00000275493
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006511ubiquitin-dependent protein catabolic process IEA--
    GO:0006950response to stress IEA--
    GO:0007409axonogenesis ----
    GO:0007412axon target recognition IEA--
    GO:0007628adult walking behavior IEA--

    UCHL1 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

    UCHL1 for compounds           About GeneDecksing

    EMD Millipore small molecules for UCHL1:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for UCHL1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    (Z)-PugnacO-GlcNAcase and beta-hexosaminidase inhibitor[132489-69-1]
    Thiamet GPotent O-GlcNAcase inhibitor[1009816-48-1]
    JW 480Potent and selective inhibitor of serine hydrolase KIAA1363 (AADACL1)[1354359-53-7]
    FlurofamideUrease inhibitor[70788-28-2]
    WWL 70Potent ABHD6 inhibitor[947669-91-2]

    9 Novoseek inferred chemical compound relationships for UCHL1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sodium borohydride 37.1 1 9252784 (1)
    dopamine 20.7 1 14579120 (1)
    12-o-tetradecanoylphorbol 13-acetate 8.3 1 7756180 (1)
    glyceraldehyde 3-phosphate 8.19 1 17522440 (1)
    lysine 0 2 17259170 (1), 15718234 (1)
    tyrosine 0 3 16626667 (1), 10923647 (1)
    superoxide 0 3 18079679 (1), 16391823 (1)
    serine 0 2 16626667 (1)
    cysteine 0 3 14722078 (1), 17449248 (1), 20439756 (1)

    Search CenterWatch for drugs/clinical trials and news about UCHL1

    (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 UCHL1 gene: 
    NM_004181.4  

    Unigene Cluster for UCHL1:

    Ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
    Hs.518731  [show with all ESTs]
    Unigene Representative Sequence: AB209038
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000514924 ENST00000503431 ENST00000284440(uc003gvo.3) ENST00000381760(uc003gvp.3)
    ENST00000512419 ENST00000505232 ENST00000504818 ENST00000508768 ENST00000512788
    ENST00000472501 ENST00000514764 ENST00000510566

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    Additional mRNA sequence: 

    AB209038.1 AK054579.1 AK055249.1 AK315368.1 BC000332.2 BC005117.1 BC006305.2 BC018838.2 
    X04741.1 

    24/29 DOTS entries (see all 29):

    DT.91767332  DT.92409770  DT.95213398  DT.100877608  DT.95213387  DT.95314607  DT.97787074  DT.95278796 
    DT.100833633  DT.121262545  DT.100877596  DT.99948987  DT.100877595  DT.100877605  DT.100877609  DT.121262544 
    DT.75107755  DT.91680207  DT.95213388  DT.95213397  DT.100642141  DT.121262493  DT.121262563  DT.75186422 

    24/1015 AceView cDNA sequences (see all 1015):

    CR626014 BE781115 BQ719819 AA065149 BU175151 BQ430337 AW250813 BQ924568 
    CD105650 BG253060 R39313 BE796108 BU952447 AW087082 BQ723369 BQ267597 
    BQ943913 BM667940 AI268335 F01526 BF219724 BM894063 BQ717962 AA057836 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for UCHL1    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b
    SP1:                    -                                                           -               
    SP2:                    -     -     -                                               -               
    SP3:                                                                                                
    SP4:                    -     -                                                                     
    SP5:                                                                                                


    ECgene alternative splicing isoforms for UCHL1

    (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

    UCHL1 expression in normal human tissues (normalized intensities)      UCHL1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGTCTAAAA
    UCHL1 Expression
    About this image


    UCHL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/25 selected tissues (see all 25) fully expand
     
     Brain (Nervous System)    fully expand to see all 44 entries
             Thalamus
             Globus Pallidus   
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 6 entries
             colon ; peripheral nerve/ganglion   
             autonomic/sympathetic/ganglion   
     
     Spinal Cord (Nervous System)    fully expand to see all 5 entries
             Dorsal Horn   
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             Mature Ganglion Cells Ganglion Cell Layer
             Retina
     
     Pancreas (Endocrine System)    fully expand to see all 3 entries
             Bipotent Endocrine/Duct Progenitor Cells Dorsal Pancreatic Bud
             Islets of Langerhans

    See UCHL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UCHL1

    SOURCE GeneReport for Unigene cluster: Hs.518731

    UniProtKB/Swiss-Prot: UCHL1_HUMAN, P09936
    Tissue specificity: Found in neuronal cell bodies and processes throughout the neocortex (at protein level).
    Expressed in neurons and cells of the diffuse neuroendocrine system and their tumors. Weakly expressed in ovary.
    Down-regulated in brains from Parkinson disease and Alzheimer disease patients

        SABiosciences Expression via Pathway-Focused PCR Arrays including UCHL1: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              Parkinson's Disease in human mouse rat
              Nephrotoxicity in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat

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    (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 animals and fungi.

    Orthologs for UCHL1 gene from 8/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Uchl11 , 5 ubiquitin carboxy-terminal hydrolase L11, 5 88.04(n)1
    95.52(a)1
      5 (35.95 cM)5
    222231  NM_011670.21  NP_035800.21 
     666760985 
    chicken
    (Gallus gallus)
    Aves UCHL11 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) less 75.64(n)
    75.34(a)
      770302  NM_001080212.1  NP_001073681.1 
    lizard
    (Anolis carolinensis)
    Reptilia UCHL16
    Uncharacterized protein
    78(a)
    1 ↔ 1
    5(100567218-100576797)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.60962 Transcribed sequence with weak similarity to protein spP09936 (H.sapiens) UBL1_HUMAN Ubiquitin carboxyl-terminal hydrolase isozyme L1 (UCH-L1) (Ubiquitin thiolesterase L1) (Neuron cytoplasmic protein 9.5) (PGP 9.5) (PGP9.5) less 75.17(n)    AL893221.2 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc55h082 Danio rerio mRNA similar to ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) (cDNA clone MGC56535 IMAGE5914171), complete cds less 72.98(n)    BC049044.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Uch3 protein deubiquitination ubiquitin
    C-terminal hydrolase less
    45(a)   22D4   --
    worm
    (Caenorhabditis elegans)
    Secernentea F46E10.83 ubiquitin carboxyl-terminal hydrolase 37(a)   V(6512593-6514112)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YUH16
    Ubiquitin C-terminal hydrolase that cleaves ubiqui...
    25(a)
    1 → many
    X(615576-616286)


    ENSEMBL Gene Tree for UCHL1 (if available)
    TreeFam Gene Tree for UCHL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for UCHL1 gene
    UCHL32  
    1 SIMAP similar gene for UCHL1 using alignment to 7 protein entries:     UCHL1_HUMAN (see all proteins):
    UCHL3

    UCHL1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for UCHL1
    PGOHUM00000242729 PGOHUM00000242730


    (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

    10/329 SNPs in UCHL1 are shown (see all 329)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0156784
    Parkinson disease 5 (PARK5)4--see VAR_0156782 I M mis40--------
    rs1219177671,2
    Cpathogenic141152790(+) ACAATC/G/TGGACT 2 I M mis10--------
    rs50307321,2,4
    Cunknown141149655(+) GCTGTC/ACCGGC 2 /Y /S mis15Minor allele frequency- A:0.35NA EA 246
    rs1390538351,2
    C--41147098(+) TTAGCC/TGGGTG 1 -- us2k10--------
    rs119473291,2
    C,F,H--41147135(+) tactcA/C/Tggagg 1 -- us2k11WA 2
    rs1498847351,2
    --41147229(+) AGAGCA/GAGACT 1 -- us2k10--------
    rs1930888311,2
    --41147508(+) TTGAGA/GGAAAA 1 -- us2k10--------
    rs1850536621,2
    --41147532(+) AGATTC/TACCCA 1 -- us2k10--------
    rs1459598991,2
    --41147543(+) TTAAGC/TTCCTC 1 -- us2k10--------
    rs345359621,2
    C,F--41147561(+) TTTTTT/CTCTCT 1 -- us2k16Minor allele frequency- C:0.10NA CSA WA EA 364

    HapMap Linkage Disequilibrium report for UCHL1 (41258430 - 41270472 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for UCHL1: --

    Human Gene Mutation Database (HGMD): UCHL1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing UCHL1
    DNA2.0 Custom Variant and Variant Library Synthesis for UCHL1

    (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: 191342   
    OMIM disorders: 613643  
    UniProtKB/Swiss-Prot: UCHL1_HUMAN, P09936
  • Parkinson disease 5 (PARK5) [MIM:613643]: A complex neurodegenerative disorder with manifestations
    ranging from typical Parkinson disease to dementia with Lewy bodies. Clinical features include parkinsonian
    symptoms (resting tremor, rigidity, postural instability and bradykinesia), dementia, diffuse Lewy body
    pathology, autonomic dysfunction, hallucinations and paranoia. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • 20/57 diseases for UCHL1 (see all 57):    About MalaCards
    parkinson disease, resistance to    parkinson disease 5    atrophic rhinitis    parkinson's disease
    large cell carcinoma    parathyroid carcinoma    granular cell tumor    malignant histiocytosis
    traumatic brain injury    autonomic dysfunction    neuronitis    keratoacanthoma
    brain injury    kidney cancer    tauopathy    histiocytosis
    huntington's disease    motor neuron disease    giant cell tumor    multiple system atrophy


    UCHL1 for disorders           About GeneDecksing


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

    10/15 Novoseek inferred disease relationships for UCHL1 gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    parkinson disease 79.9 70 12775255 (2), 12836396 (2), 15882803 (2), 16316632 (2) (see all 43)
    neurodegenerative diseases 65.7 6 17586089 (2), 15911766 (1), 17925890 (1), 16537382 (1)
    parkinsonism 52.8 4 11455179 (2), 12836396 (1), 15228595 (1)
    neurodegeneration 49.7 4 10923647 (1), 15911766 (1), 20231490 (1)
    neurofibrillary tangles 33.3 3 14722078 (1), 20231490 (1)
    alzheimers disease 31 7 17925890 (2), 14722078 (1), 20144674 (1), 16698101 (1) (see all 5)
    huntington disease 25.8 5 19683447 (2), 15911766 (1), 16369839 (1)
    tumors 14.6 37 16734731 (4), 14522054 (3), 18820707 (2), 16402389 (2) (see all 14)
    nsclc 10 5 10487828 (3), 18820707 (1)
    cancer lung 6.39 8 10487828 (4), 17108109 (1), 14522054 (1)

    GeneTests: UCHL1
    GeneReviews: UCHL1
    Genetic Association Database (GAD): UCHL1
    Human Genome Epidemiology (HuGE) Navigator: UCHL1 (34 documents)

    Export disorders for UCHL1 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 UCHL1 gene, integrated from 9 sources (see all 294):
    (articles sorted by number of sources associating them with UCHL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. UCHL1 is a Parkinson's disease susceptibility gene. (PubMed id 15048890)1, 2, 4, 9 Maraganore D.M....Rocca W.A. (2004)
    2. UCHL-1 is not a Parkinson's disease susceptibility gene. (PubMed id 16450370)1, 2, 4, 9 Healy D.G....Wood N.W. (2006)
    3. The ubiquitin carboxy-terminal hydrolase-L1 gene S18Y polymorphism does not confer protection against idiopathic Parkinson's disease. (PubMed id 11027850)1, 2, 4, 9 Mellick G.D. and Silburn P.A. (2000)
    4. The S18Y polymorphic variant of UCH-L1 confers an antioxidant function to neuronal cells. (PubMed id 18411255)1, 2, 9 Kyratzi E....Stefanis L. (2008)
    5. Structural basis for conformational plasticity of the Parkinson's disease-associated ubiquitin hydrolase UCH-L1. (PubMed id 16537382)1, 2, 9 Das C.... Petsko G.A. (2006)
    6. Oxidative modifications and down-regulation of ubiquitin carboxyl- terminal hydrolase L1 associated with idiopathic Parkinson's and Alzheimer's diseases. (PubMed id 14722078)1, 2, 9 Choi J.... Li L. (2004)
    7. Alterations of structure and hydrolase activity of parkinsonism- associated human ubiquitin carboxyl-terminal hydrolase L1 variants. (PubMed id 12705903)1, 2, 9 Nishikawa K.... Wada K. (2003)
    8. The UCH-L1 gene encodes two opposing enzymatic activities that affect alpha-synuclein degradation and Parkinson's disease susceptibility. (PubMed id 12408865)1, 2, 9 Liu Y.... Lansbury P.T. Jr. (2002)
    9. The gene for human neurone specific ubiquitin C-terminal hydrolase (UCHL1, PGP9.5) maps to chromosome 4p14. (PubMed id 1840236)1, 3, 9 Edwards Y.H....Day I.N. (1991)
    10. Membrane-associated farnesylated UCH-L1 promotes alpha-synuclein neurotoxicity and is a therapeutic target for Parkinson's disease. (PubMed id 19261853)1, 2, 9 Liu Z....Lansbury P.T. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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      (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)
    About This Section
    Entrez Gene: 7345 HGNC: 12513 AceView: UCHL1 Ensembl:ENSG00000154277 euGenes: HUgn7345
    ECgene: UCHL1 Kegg: 7345 H-InvDB: UCHL1

    (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 UCHL1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for UCHL1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/UCHL1
    Wikipedia http://en.wikipedia.org/wiki/Ubiquitin_carboxy-terminal_hydrolase_L1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for UCHL1 gene:
    Search GeneIP for patents involving UCHL1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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