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

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: mouse all
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Genomic context

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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?
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.
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.
Digenic FLNA and UCHL1 variants resulting in a complex phenotype.
Title: Digenic FLNA and UCHL1 variants resulting in a complex phenotype.
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.
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.
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.
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

Associated conditions

Description	Tests
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome MedGen: C3809665 OMIM: 615491 GeneReviews: Not available	Compare labs
Parkinson disease 5, autosomal dominant, susceptibility to MedGen: C3150899 OMIM: 613643 GeneReviews: Parkinson Disease Overview	Compare labs
Spastic paraplegia 79A, autosomal dominant, with ataxia MedGen: C5774300 OMIM: 620221 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-67809 (e-PCR)
- UniSTS:53769

SHGC-59749 (e-PCR)
- UniSTS:35595

Uchl1 (e-PCR), detects polymorphism
- UniSTS:516647

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 catabolic process	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

EC 3.4.19.12

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

NG_012931.1 RefSeqGene

Range

5048..16575

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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