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

    Gene ID: 7345, updated on 5-May-2024

    Summary

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    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
    mouse all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Pivotal Role of Ubiquitin Carboxyl-Terminal Hydrolase L1 (UCHL1) in Uterine Leiomyoma. Suzuki T, et al. Biomolecules, 2023 Jan 18. PMID 36830563, Free PMC Article
    2. UCHL1 promotes cancer stemness in triple-negative breast cancer. Tian C, et al. Pathol Res Pract, 2022 Dec. PMID 36434856
    3. Ubiquitin C-terminal hydrolase 1 is increased in migraine attack. Atescelik M, et al. Rev Neurol (Paris), 2023 Mar. PMID 36163088
    4. Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy. Park J, et al. Genet Med, 2022 Oct. PMID 35986737
    5. Ubiquitin carboxyl-terminal esterase L1 is not elevated in the serum of concussed rugby players: an observational cross-sectional study. Harrell JO, et al. Sci Rep, 2022 Jul 18. PMID 35851288, Free PMC Article

    See all (377) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Digenic FLNA and UCHL1 variants resulting in a complex phenotype.
      Title: Digenic FLNA and UCHL1 variants resulting in a complex phenotype.
    2. UCHL1 is a potential molecular indicator and therapeutic target for neuroendocrine carcinomas.
      Title: UCHL1 is a potential molecular indicator and therapeutic target for neuroendocrine carcinomas.
    3. Changes in Serum LncRNA MEG3/miR-181b and UCH-L1 Levels in Patients with Moderate and Severe Intracerebral Hemorrhage.
      Title: Changes in Serum LncRNA MEG3/miR-181b and UCH-L1 Levels in Patients with Moderate and Severe Intracerebral Hemorrhage.
    4. Targeted epigenetic silencing of UCHL1 expression suppresses collagen-1 production in human lung epithelial cells.
      Title: Targeted epigenetic silencing of UCHL1 expression suppresses collagen-1 production in human lung epithelial cells.
    5. Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1.
      Title: Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1.
    6. UCHL1-PKM2 axis dysregulation is associated with promoted proliferation and invasiveness of urothelial bladder cancer cells.
      Title: UCHL1-PKM2 axis dysregulation is associated with promoted proliferation and invasiveness of urothelial bladder cancer cells.
    7. UCHL1 facilitates protein aggregates clearance to enhance neural stem cell activation in spinal cord injury.
      Title: UCHL1 facilitates protein aggregates clearance to enhance neural stem cell activation in spinal cord injury.
    8. Ubiquitin C-terminal hydrolase L1 after out-of-hospital cardiac arrest.
      Title: Ubiquitin C-terminal hydrolase L1 after out-of-hospital cardiac arrest.
    9. UCHL1 aggravates skin fibrosis through an IGF-1-induced Akt/mTOR/HIF-1alpha pathway in keloid.
      Title: UCHL1 aggravates skin fibrosis through an IGF-1-induced Akt/mTOR/HIF-1α pathway in keloid.
    10. Associations of blood UCH-L1 and NfL levels with cognitive dysfunction in Parkinson's disease patients.
      Title: Associations of blood UCH-L1 and NfL levels with cognitive dysfunction in Parkinson's disease patients.
    Submit: New GeneRIF Correction See all GeneRIFs (257)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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

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    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)

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    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_004181.5 → NP_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:5 → 219
      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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P09936.2 GenPept UniProtKB/Swiss-Prot:P09936

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
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    Tools
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