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

Gene ID: 7345, updated on 2-Nov-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
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Genomic context

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See UCHL1 in Genome Data Viewer
Location:
4p13
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (41256928..41268455)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (41230716..41242242)
RS_2024_09 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 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. [The role of hypermethylation in promoter region of ubiquitin carboxyl-terminal hydrolase L1 in human esophageal cancer]. Yan WJ, et al. Zhonghua Nei Ke Za Zhi, 2012 May. PMID 22883340
  2. Endogenous neurotoxic dopamine derivative covalently binds to Parkinson's disease-associated ubiquitin C-terminal hydrolase L1 and alters its structure and function. Contu VR, et al. J Neurochem, 2014 Sep. PMID 24832624
  3. Ubiquitin carboxyl hydrolase L1 significance for human diseases. Suong DN, et al. Protein Pept Lett, 2014 Jul. PMID 24702261
  4. Elevated serum ubiquitin C-terminal hydrolase-L1 levels in patients with carbon monoxide poisoning. Pang L, et al. Clin Biochem, 2014 Jan. PMID 24080464
  5. Prognostic relevance of ubiquitin C-terminal hydrolase L1 (UCH-L1) mRNA and protein expression in breast cancer patients. Schröder C, et al. J Cancer Res Clin Oncol, 2013 Oct. PMID 23996067

See all (404) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Phenotypic variability related to dominant UCHL1 mutations: about three families with optic atrophy and ataxia.
    Title: Phenotypic variability related to dominant UCHL1 mutations: about three families with optic atrophy and ataxia.
  2. Inhibition of Ubiquitin C-Terminal Hydrolase L1 Facilitates Cutaneous Wound Healing via Activating TGF-beta/Smad Signalling Pathway in Fibroblasts.
    Title: Inhibition of Ubiquitin C-Terminal Hydrolase L1 Facilitates Cutaneous Wound Healing via Activating TGF-β/Smad Signalling Pathway in Fibroblasts.
  3. Is There a Functional Role for the Knotted Topology in Protein UCH-L1?
    Title: Is There a Functional Role for the Knotted Topology in Protein UCH-L1?
  4. Ubiquitin Carboxyl-Terminal Hydrolase L1 and Its Role in Parkinson's Disease.
    Title: Ubiquitin Carboxyl-Terminal Hydrolase L1 and Its Role in Parkinson's Disease.
  5. Proximity proteomics reveals UCH-L1 as an essential regulator of NLRP3-mediated IL-1beta production in human macrophages and microglia.
    Title: Proximity proteomics reveals UCH-L1 as an essential regulator of NLRP3-mediated IL-1β production in human macrophages and microglia.
  6. Digenic FLNA and UCHL1 variants resulting in a complex phenotype.
    Title: Digenic FLNA and UCHL1 variants resulting in a complex phenotype.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (262)

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 ribosome binding IEA
Inferred from Electronic Annotation
more info
  
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 protein deubiquitination TAS
Traceable Author Statement
more info
  
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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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_2024_08

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.

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