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    UCHL1 ubiquitin C-terminal hydrolase L1 [ Homo sapiens (human) ]

    Gene ID: 7345, updated on 25-May-2017
    Official Symbol
    UCHL1provided by HGNC
    Official Full Name
    ubiquitin C-terminal hydrolase L1provided by HGNC
    Primary source
    HGNC:HGNC:12513
    See related
    Ensembl:ENSG00000154277 MIM:191342; Vega:OTTHUMG00000099377
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NDGOA; PARK5; PGP95; SPG79; PGP9.5; Uch-L1; HEL-117; PGP 9.5; HEL-S-53
    Summary
    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]
    Orthologs
    Location:
    4p13
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 4 NC_000004.12 (41256881..41268429)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (41258898..41270446)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene amyloid beta precursor protein binding family B member 2 Neighboring gene RNA, U6 small nuclear 1195, pseudogene Neighboring gene UCHL1 antisense RNA 1 (head to head) Neighboring gene LIM and calponin homology domains 1 Neighboring gene ribosomal protein L12 pseudogene 20 Neighboring gene uncharacterized LOC105374423

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Neurodegeneration with optic atrophy, childhood-onset
    MedGen: C3809665 OMIM: 615491 GeneReviews: Not available
    Compare labs
    Parkinson disease 5
    MedGen: C3150899 OMIM: 613643 GeneReviews: Parkinson Disease Overview
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of ubiquitin carboxyl-terminal esterase L1 (UCH-L1) in umbilical cord blood mononuclear cells and T-cell lines PubMed

    Go to the HIV-1, Human Interaction Database

    • Alpha-synuclein signaling, organism-specific biosystem (from Pathway Interaction Database)
      Alpha-synuclein signaling, organism-specific biosystem
      Alpha-synuclein signaling
    • Deubiquitination, organism-specific biosystem (from REACTOME)
      Deubiquitination, organism-specific biosystemUbiquitination, the modification of proteins by the covalent attachment of ubiquitin (Ub), is a key regulatory mechanism for many many cellular processes, including protein degradation by the 26S pro...
    • Hepatitis C and Hepatocellular Carcinoma, organism-specific biosystem (from WikiPathways)
      Hepatitis C and Hepatocellular Carcinoma, organism-specific biosystemPathway model based on hub miRNAs and their putative targets from network analysis. - From a set of differentially expressed genes in both chronic HCV (hepatitis C virus) and HCC (hepatocellular carc...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Parkinson's disease, organism-specific biosystem (from KEGG)
      Parkinson's disease, organism-specific biosystemParkinson's disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNc). Mutations...
    • Parkinsons Disease Pathway, organism-specific biosystem (from WikiPathways)
      Parkinsons Disease Pathway, organism-specific biosystemMost people with Parkinson's disease have idiopathic Parkinson's disease (having no specific known cause). A small proportion of cases, however, can be attributed to known genetic factors. Mutations ...
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Proteasome Degradation, organism-specific biosystem (from WikiPathways)
      Proteasome Degradation, organism-specific biosystem
      Proteasome Degradation
    • UCH proteinases, organism-specific biosystem (from REACTOME)
      UCH proteinases, organism-specific biosystemDUBs of the Ub C-terminal Hydrolase (UCH) family are thiol proteases that have an N-terminal catalytic domain sometimes followed by C-terminal extensions that mediate protein-protein interactions. Hu...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    alpha-2A adrenergic receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    cysteine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ligase activity IEA
    Inferred from Electronic Annotation
    more info
     
    omega peptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    thiol-dependent ubiquitin-specific protease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    thiol-dependent ubiquitinyl hydrolase activity TAS
    Traceable Author Statement
    more info
     
    ubiquitin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    adult walking behavior IEA
    Inferred from Electronic Annotation
    more info
     
    axon target recognition IEA
    Inferred from Electronic Annotation
    more info
     
    axonal transport of mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    eating behavior IEA
    Inferred from Electronic Annotation
    more info
     
    muscle fiber development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of MAP kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuromuscular process IEA
    Inferred from Electronic Annotation
    more info
     
    proteasome-mediated ubiquitin-dependent protein catabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein deubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein deubiquitination TAS
    Traceable Author Statement
    more info
     
    regulation of macroautophagy TAS
    Traceable Author Statement
    more info
    PubMed 
    response to ischemia IEA
    Inferred from Electronic Annotation
    more info
     
    sensory perception of pain IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    myelin sheath IEA
    Inferred from Electronic Annotation
    more info
     
    neuron projection terminus IEA
    Inferred from Electronic Annotation
    more info
     
    neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    colocalizes_with plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    ubiquitin carboxyl-terminal hydrolase isozyme L1
    Names
    epididymis luminal protein 117
    epididymis secretory protein Li 53
    neuron cytoplasmic protein 9.5
    ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
    ubiquitin thioesterase L1
    ubiquitin thiolesterase
    NP_004172.2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012931.1 RefSeqGene

      Range
      5001..16549
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004181.4NP_004172.2  ubiquitin carboxyl-terminal hydrolase isozyme L1

      See identical proteins and their annotated locations for NP_004172.2

      Status: REVIEWED

      Source sequence(s)
      BC000332, BP202166
      Consensus CDS
      CCDS3462.1
      UniProtKB/Swiss-Prot
      P09936
      UniProtKB/TrEMBL
      V9HW74
      Related
      ENSP00000284440.4, OTTHUMP00000125219, ENST00000284440.8, OTTHUMT00000216827
      Conserved Domains (1) summary
      cd09616
      Location:5219
      Peptidase_C12_UCH_L1_L3; Cysteine peptidase C12 containing ubiquitin carboxyl-terminal hydrolase (UCH) families L1 and L3

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

      Range
      41256881..41268429
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      41259044..41270591
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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