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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)
 Explore 62 diseases affiliated with
UCHL1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for UCHL1    

Aliases
for UCHL1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Ubiquitin Carboxyl-Terminal Esterase L1 (Ubiquitin Thiolesterase)1 2     PGP952
PGP9.51 2 3     Ubiquitin C-Terminal Hydrolase2
PARK51 2 5     Ubiquitin Carboxyl-Terminal Hydrolase Isozyme L12
Uch-L11 2     EC 3.4.19.123
Neuron Cytoplasmic Protein 9.52 3     EC 6.-.-.-3
Ubiquitin Thioesterase L12 3     UCH-L13
PGP 9.52 3     

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


Summaries
for UCHL1 gene

(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:
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)

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)


Genomic Views
for UCHL1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_006238.11  
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 plasmid: UCHL1 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

Proteins
for UCHL1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • O-glycosylated (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P09936

    • UCHL1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    Human Recombinant Protein Products: 
    EMD Millipore Purified and/or Recombinant UCHL1 Protein
    R&D Systems Recombinant & Natural Proteins for UCHL1 (UCH-L1)
    Enzo Life Sciences proteins for UCHL1
    OriGene Purified Protein: UCHL1
    OriGene Protein Over-expression Lysate: UCHL1
    OriGene Custom Protein Services for UCHL1 
    GenScript Custom Purified and Recombinant Proteins Services for UCHL1
    Novus Biologicals UCHL1 Proteins
    Novus Biologicals UCHL1 Lysates
    Sino Biological Recombinant Protein for UCHL1
    ProSpec Recombinant Protein for UCHL1
    Uscn Proteins for UCHL1

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    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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    Abcam antibodies for UCHL1 
    Uscn Antibodies for UCHL1
    ThermoFisher Antibody for UCHL1

    Assay Products for UCHL1: 
    Browse Kits and Assays available from EMD Millipore
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    Uscn ELISAs and CLIAs for UCHL1

    Protein Domains /
    Families
    for UCHL1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    UCHL1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR001578 Peptidase_C12

    Graphical View of Domain Structure for InterPro Entry P09936

    ProtoNet protein and cluster: P09936

    1 Blocks protein family: IPB001578 Ubiquitin carboxyl-terminal hydrolase

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


    Function
    for UCHL1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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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 plasmid: UCHL1 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: UCHL1
    OriGene siRNA: UCHL1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat UCHL1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for UCHL1

    Clone
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    Sino Biological Human cDNA Clone for UCHL1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UCHL1 

    Cell Line
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    Search LifeMap BioReagents cell lines for UCHL1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UCHL1

    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 IPI--
    GO:0008242omega peptidase activity IDA9521656
    GO:0016874ligase activity IEA--


    UCHL1 for ontologies           About GeneDecksing


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

    Animal Models:
         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


    Pathways & Interactions
    for UCHL1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Immune response_MIF-JAB1 signaling
    		Immune response_MIF-JAB1 signaling1.00
    		Immune response MIF-JAB1 signaling0.97
    2Ubiquitinated Orc1 is degraded by the proteasome
    		Proteasome Degradation0.56
    		Parkinson's Disease Pathway0.31
    3Protein Stability
    		Protein Stability1.00
    4Neuroscience
    		Neuroscience1.00
    5Alpha-synuclein signaling
    		Alpha-synuclein signaling1.00

    Pathway sources
    See GeneCards unified pathways
    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-1049220,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-1049220,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



    Drugs & Compounds
    for UCHL1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 #
    LDN 57444Ubiquitin C-terminal hydrolase-L1 (UCH-L1) inhibitor[668467-91-2]
    9 Novoseek 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 

    Transcripts
    for UCHL1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    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, 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

    miRNA
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    hsa-miR-4291 hsa-miR-922 hsa-miR-561 hsa-miR-497*
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    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA 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):

    BM663482 BE792801 BU782930 CR591761 CA776448 BQ422136 AI086835 AA608554 
    BQ924568 BU781984 AI675847 BU781822 BU077447 BU175946 BU190008 CR609753 
    BE792638 BM509262 CR610993 BQ575366 AI391730 CF127418 BM310179 BG253060 

    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

    Expression
    for UCHL1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAGTCTAAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    UCHL1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/11 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 11) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeGanglion Cell LayerMature Ganglion CellsGanglion, Retina
    LungStem BronchiNeuroendocrine CellsLung
    LungTracheaNeuroendocrine CellsLung
    EyeInner Nuclear LayerGABAergic Amacrine CellsAmacrine, Retina
    EyeInner Nuclear LayerMature Horizontal CellsHorizontal, Retina
    Gut TubeHindgutHindgut Endoderm CellsEndoderm
    Gut TubeMidgutMidgut Endoderm CellsEndoderm
    OvaryAntral FollicleSecondary OocyteFemale Gametocytes, Germ Cells
    EyeRetinaEye
    Gut TubeHindgutGut Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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
    for UCHL1 gene

    (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 UCHL1 gene from 9/26 species (see all 26)    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 more 75.64(n)
    75.34(a)    		   770302  NM_001080212.1  NP_001073681.1 
    lizard
    (Anolis carolinensis)    		 Reptilia UCHL16
    		 --
    		 78(a)
    		 1 ↔ 1
    		 5(100567746-100576795)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia Str.60962 Transcribed sequence with weak similarity to protein more 75.17(n)    AL893221.2 
    zebrafish
    (Danio rerio)    		 Actinopterygii wufc55h082 Danio rerio mRNA similar to ubiquitin carboxyl-terminal more 72.98(n)    BC049044.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Uch3 protein deubiquitination ubiquitin
    C-terminal more    		 45(a)   22D4   --
    worm
    (Caenorhabditis elegans)    		 Secernentea F46E10.83 ubiquitin carboxyl-terminal hydrolase 37(a)   V(6512593-6514112)   --
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons UCH36
    		 ubiquitin C-terminal hydrolase 3
    		 41(a)
    		 1 → many
    		 4(9766971-9768770)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 3)    		 ubiquitin carboxyl-terminal hydrolase, family 1, p...
    ubiquitin carboxyl-terminal hydrolase, family 1, p...
    (see all 3)    		 40(a)
    37(a)
    (see all 3)    		 many ↔ many
    many ↔ many
    (see all 3)    		 2(26398988-26403644)
    4(27173063-27176097)


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

    Paralogs
    for UCHL1 gene

    (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


    Genomic Variants
    for UCHL1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

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

    Disorders / Diseases
    for UCHL1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    UCHL1 for disorders           About GeneDecksing

    OMIM gene information: 191342   
    OMIM disorders: 613643  
    UniProtKB/Swiss-Prot: UCHL1_HUMAN, P09936
  • Defects in UCHL1 are the cause of Parkinson disease type 5 (PARK5) [MIM:613643]; also known as Parkinson
    • disease autosomal dominant 5. PARK5 is 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

    20/62 diseases for UCHL1 (see all 62):    About MalaCards
    parkinson's disease    neuronitis    parkinson disease 5    traumatic brain injury
    autonomic dysfunction    brain injury    atrophic rhinitis    granular cell tumor
    multiple system atrophy    parkinson disease, resistance to    malignant histiocytosis    giant cell tumor
    histiocytosis    motor neuron disease    acute lymphoblastic leukemia    neurodegenerative disease
    lymphoblastic leukemia    large cell carcinoma    parathyroid carcinoma    huntington's disease

    10/15 Novoseek 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
    Parkinson Disease

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

    Export disorders for UCHL1 gene to outside databases

    Publications
    for UCHL1 gene

    (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 274):
    (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. 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)
    3. 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)
    4. 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)
    5. 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)
    6. 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)
    7. 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)
    8. 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)
    9. 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)
    10. The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease. (PubMed id 10454131)1, 2, 9 Harhangi B.S.... Breteler M.M. (1999)

    External Searches for UCHL1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing UCHL1 gene

    (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

    Other Databases showing UCHL1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing UCHL1 gene

    (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

    Intellectual Property
    for UCHL1 gene

    (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:
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