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

    Gene ID: 7345, updated on 7-Jul-2024

    Summary

    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; AllianceGenome:HGNC:12513
    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; SPG79A; UCHL-1; 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]
    Expression
    Biased expression in brain (RPKM 389.7), adrenal (RPKM 70.8) and 2 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See UCHL1 in Genome Data Viewer
    Location:
    4p13
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (41256928..41268455)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (41230716..41242242)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (41258945..41270472)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene amyloid beta precursor protein binding family B member 2 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:41126569-41127768 Neighboring gene RNA, U6 small nuclear 1195, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21505 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21506 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15385 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15386 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15387 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:41218499-41219313 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:41244640-41244866 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:41259655-41260155 Neighboring gene UCHL1 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:41290173-41290673 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:41329658-41330318 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:41364841-41365502 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:41434604-41435306 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:41435307-41436010 Neighboring gene LIM and calponin homology domains 1 Neighboring gene ribosomal protein L12 pseudogene 20 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:41527060-41527659 Neighboring gene uncharacterized LOC105374423

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alpha-2A adrenergic receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables cysteine-type deubiquitinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cysteine-type deubiquitinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cysteine-type deubiquitinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables cysteine-type deubiquitinase activity TAS
    Traceable Author Statement
    more info
     
    enables cysteine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables omega peptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in adult walking behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in axon target recognition IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in axonal transport of mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in eating behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in male germ cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in muscle cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of MAP kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neuromuscular process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of glycolytic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in protein deubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein deubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of macroautophagy TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in response to ischemia IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in neuron projection terminus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    colocalizes_with plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5048..16575
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004181.5NP_004172.2  ubiquitin carboxyl-terminal hydrolase isozyme L1

      See identical proteins and their annotated locations for NP_004172.2

      Status: REVIEWED

      Source sequence(s)
      AC095043, BC000332, BP202166
      Consensus CDS
      CCDS3462.1
      UniProtKB/Swiss-Prot
      P09936, Q4W5K6, Q71UM0
      UniProtKB/TrEMBL
      B2RD14, V9HW74
      Related
      ENSP00000284440.4, ENST00000284440.9
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      41256928..41268455
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      41230716..41242242
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)