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

Gene ID: 7345, updated on 28-Oct-2018

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; Vega:OTTHUMG00000099377
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; 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

Genomic context

See UCHL1 in Genome Data Viewer
Location:
4p13
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (41256881..41268429)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (41258898..41270446)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene amyloid beta precursor protein binding family B member 2 Neighboring gene RNA, U6 small nuclear 1195, pseudogene Neighboring gene UCHL1 antisense RNA 1 (head to head) Neighboring gene LIM and calponin homology domains 1 Neighboring gene ribosomal protein L12 pseudogene 20 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Parkinson disease 5
MedGen: C3150899 OMIM: 613643 GeneReviews: Parkinson Disease Overview
Compare labs
Spastic paraplegia 79, autosomal recessive
MedGen: C3809665 OMIM: 615491 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
NHGRI GWA 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 BioSystems

  • Alpha-synuclein signaling, organism-specific biosystem (from Pathway Interaction Database)
    Alpha-synuclein signaling, organism-specific biosystem
    Alpha-synuclein signaling
  • Deubiquitination, organism-specific biosystem (from REACTOME)
    Deubiquitination, organism-specific biosystemUbiquitination, the modification of proteins by the covalent attachment of ubiquitin (Ub), is a key regulatory mechanism for many many cellular processes, including protein degradation by the 26S pro...
  • Hepatitis C and Hepatocellular Carcinoma, organism-specific biosystem (from WikiPathways)
    Hepatitis C and Hepatocellular Carcinoma, organism-specific biosystemPathway model based on hub miRNAs and their putative targets from network analysis. - From a set of differentially expressed genes in both chronic HCV (hepatitis C virus) and HCC (hepatocellular carc...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Parkinson's disease, organism-specific biosystem (from KEGG)
    Parkinson's disease, organism-specific biosystemParkinson's disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNc). Mutations...
  • Parkinsons Disease Pathway, organism-specific biosystem (from WikiPathways)
    Parkinsons Disease Pathway, organism-specific biosystemMost people with Parkinson's disease have idiopathic Parkinson's disease (having no specific known cause). A small proportion of cases, however, can be attributed to known genetic factors. Mutations ...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Proteasome Degradation, organism-specific biosystem (from WikiPathways)
    Proteasome Degradation, organism-specific biosystem
    Proteasome Degradation
  • UCH proteinases, organism-specific biosystem (from REACTOME)
    UCH proteinases, organism-specific biosystemDUBs of the Ub C-terminal Hydrolase (UCH) family are thiol proteases that have an N-terminal catalytic domain sometimes followed by C-terminal extensions that mediate protein-protein interactions. Hu...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
alpha-2A adrenergic receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
cysteine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
ligase activity IEA
Inferred from Electronic Annotation
more info
 
omega peptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
thiol-dependent ubiquitin-specific protease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thiol-dependent ubiquitin-specific protease activity IDA
Inferred from Direct Assay
more info
PubMed 
thiol-dependent ubiquitinyl hydrolase activity TAS
Traceable Author Statement
more info
 
ubiquitin binding IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
adult walking behavior IEA
Inferred from Electronic Annotation
more info
 
axon target recognition IEA
Inferred from Electronic Annotation
more info
 
axonal transport of mitochondrion IEA
Inferred from Electronic Annotation
more info
 
cell proliferation IEA
Inferred from Electronic Annotation
more info
 
eating behavior IEA
Inferred from Electronic Annotation
more info
 
muscle fiber development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of MAP kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
neuromuscular process IEA
Inferred from Electronic Annotation
more info
 
proteasome-mediated ubiquitin-dependent protein catabolic process NAS
Non-traceable Author Statement
more info
PubMed 
protein deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein deubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein deubiquitination TAS
Traceable Author Statement
more info
 
regulation of macroautophagy TAS
Traceable Author Statement
more info
PubMed 
response to ischemia IEA
Inferred from Electronic Annotation
more info
 
sensory perception of pain IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axon cytoplasm IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
myelin sheath IEA
Inferred from Electronic Annotation
more info
 
neuron projection terminus IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
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)

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
    5001..16549
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004181.4NP_004172.2  ubiquitin carboxyl-terminal hydrolase isozyme L1

    See identical proteins and their annotated locations for NP_004172.2

    Status: REVIEWED

    Source sequence(s)
    BC000332, BP202166
    Consensus CDS
    CCDS3462.1
    UniProtKB/Swiss-Prot
    P09936
    UniProtKB/TrEMBL
    V9HW74
    Related
    ENSP00000284440.4, OTTHUMP00000125219, ENST00000284440.8, OTTHUMT00000216827
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    41256881..41268429
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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