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

Gene ID: 7345, updated on 4-Jan-2025

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
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Genomic context

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

EBI GWAS Catalog

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

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

General gene information

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in adult walking behavior  
involved_in axon target recognition  
involved_in axonal transport of mitochondrion  
involved_in cellular response to xenobiotic stimulus  
involved_in eating behavior  
involved_in male germ cell proliferation  
involved_in muscle cell development  
involved_in negative regulation of MAP kinase activity PubMed 
involved_in neuromuscular process  
involved_in positive regulation of glycolytic process PubMed 
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process PubMed 
involved_in protein catabolic process  
involved_in protein deubiquitination PubMed 
involved_in protein deubiquitination  
involved_in regulation of macroautophagy PubMed 
involved_in response to ischemia  
Component Evidence Code Pubs
located_in axon cytoplasm  
is_active_in cytoplasm  
located_in cytoplasm PubMed 
located_in cytoplasm  
located_in cytoplasm PubMed 
located_in cytosol  
located_in cytosol  
located_in endoplasmic reticulum membrane  
located_in neuron projection terminus  
located_in neuronal cell body  
located_in nucleoplasm  
colocalizes_with plasma membrane 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)

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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_004181.5NP_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_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)
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