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UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) [ Homo sapiens (human) ]

Gene ID: 7345, updated on 7-Dec-2014
Official Symbol
UCHL1provided by HGNC
Official Full Name
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)provided by HGNC
Primary source
HGNC:HGNC:12513
See related
Ensembl:ENSG00000154277; HPRD:01877; 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; PGP9.5; Uch-L1; HEL-117; PGP 9.5
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]
See UCHL1 in Epigenomics, MapViewer
Location:
4p14
Exon count:
9
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 (A4) precursor protein-binding, family B, member 2 Neighboring gene uncharacterized LOC102723497 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 olfactory receptor, family 5, subfamily M, member 14 pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Neurodegeneration with optic atrophy, childhood-onset
MedGen: CN180639 OMIM: 615491 GeneReviews: Not available
Compare labs
Parkinson disease 5
MedGen: C3150899 OMIM: 613643 GeneReviews: Parkinson Disease Overview
Compare labs

NHGRI GWAS Catalog

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

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

Products Interactant Other Gene Complex Source Pubs Description

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 
ubiquitin binding IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin thiolesterase activity TAS
Traceable Author Statement
more info
PubMed 
ubiquitin-specific protease activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
adult walking behavior IEA
Inferred from Electronic Annotation
more info
 
axon target recognition IEA
Inferred from Electronic Annotation
more info
 
axon 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 IDA
Inferred from Direct Assay
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 IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
cytosol IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
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 
Preferred Names
ubiquitin carboxyl-terminal hydrolase isozyme L1
Names
ubiquitin carboxyl-terminal hydrolase isozyme L1
ubiquitin thioesterase L1
epididymis luminal protein 117
neuron cytoplasmic protein 9.5
ubiquitin C-terminal hydrolase
NP_004172.2

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 

    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 proteins identical to NP_004172.2

    Status: REVIEWED

    Source sequence(s)
    BC000332, BP202166
    Consensus CDS
    CCDS3462.1
    UniProtKB/Swiss-Prot
    P09936
    UniProtKB/TrEMBL
    V9HW74
    Related
    ENSP00000284440, OTTHUMP00000125219, ENST00000284440, 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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000004.12 

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

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 

    Range
    41259044..41270591
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000136.1 

    Range
    40580844..40592391
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)