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Aliases for UCHL1 Gene

Aliases for UCHL1 Gene

  • Ubiquitin C-Terminal Hydrolase L1 2 3 5
  • Ubiquitin Carboxyl-Terminal Esterase L1 (Ubiquitin Thiolesterase) 2 3
  • Neuron Cytoplasmic Protein 9.5 3 4
  • Ubiquitin Thioesterase L1 3 4
  • Ubiquitin Thiolesterase 2 3
  • PGP 9.5 3 4
  • Uch-L1 3 4
  • PGP9.5 3 4
  • Epididymis Secretory Protein Li 53 3
  • Epididymis Luminal Protein 117 3
  • Ubiquitin C-Terminal Hydrolase 3
  • EC 3.4.19.12 4
  • EC 6.-.-.- 4
  • HEL-S-53 3
  • HEL-117 3
  • NDGOA 3
  • PGP95 3
  • PARK5 3

External Ids for UCHL1 Gene

Previous HGNC Symbols for UCHL1 Gene

  • PARK5

Previous GeneCards Identifiers for UCHL1 Gene

  • GC04P041330
  • GC04P041542
  • GC04P041108
  • GC04P041099
  • GC04P040953
  • GC04P040580

Summaries for UCHL1 Gene

Entrez Gene Summary for UCHL1 Gene

  • 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]

GeneCards Summary for UCHL1 Gene

UCHL1 (Ubiquitin C-Terminal Hydrolase L1) is a Protein Coding gene. Diseases associated with UCHL1 include neurodegeneration with optic atrophy, childhood onset and parkinson disease 5. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Cell cycle Role of SCF complex in cell cycle regulation. GO annotations related to this gene include ligase activity and cysteine-type endopeptidase activity. An important paralog of this gene is UCHL3.

UniProtKB/Swiss-Prot for UCHL1 Gene

  • Ubiquitin-protein hydrolase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins. This enzyme is a thiol protease that recognizes and hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin. Also binds to free monoubiquitin and may prevent its degradation in lysosomes. The homodimer may have ATP-independent ubiquitin ligase activity.

Tocris Summary for UCHL1 Gene

Gene Wiki entry for UCHL1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UCHL1 Gene

Genomics for UCHL1 Gene

Regulatory Elements for UCHL1 Gene

Promoters for UCHL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around UCHL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for UCHL1 Gene

Chromosome:
4
Start:
41,256,413 bp from pter
End:
41,268,455 bp from pter
Size:
12,043 bases
Orientation:
Plus strand

Genomic View for UCHL1 Gene

Genes around UCHL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UCHL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UCHL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UCHL1 Gene

Proteins for UCHL1 Gene

  • Protein details for UCHL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P09936-UCHL1_HUMAN
    Recommended name:
    Ubiquitin carboxyl-terminal hydrolase isozyme L1
    Protein Accession:
    P09936
    Secondary Accessions:
    • Q4W5K6
    • Q71UM0

    Protein attributes for UCHL1 Gene

    Size:
    223 amino acids
    Molecular mass:
    24824 Da
    Quaternary structure:
    • Monomer. Homodimer. Interacts with SNCA (By similarity). Interacts with COPS5.
    Miscellaneous:
    • Oxidation of Met-1, Met-6, Met-12, Met-124 and Met-179 to methionine sulfoxide, and oxidation of Cys-220 to cysteine sulfonic acid have been observed in brains from Alzheimer disease (AD) and Parkinson disease (PD) patients. In AD, UCHL1 was found to be associated with neurofibrillary tangles. In contrast to UCHL3, does not hydrolyze a peptide bond at the C-terminal glycine of NEDD8.
    SequenceCaution:
    • Sequence=CAA28443.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for UCHL1 Gene

neXtProt entry for UCHL1 Gene

Proteomics data for UCHL1 Gene at MOPED

Post-translational modifications for UCHL1 Gene

Other Protein References for UCHL1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for UCHL1 (UCHL1)

Protein Products

No data available for DME Specific Peptides for UCHL1 Gene

Domains & Families for UCHL1 Gene

Protein Domains for UCHL1 Gene

Graphical View of Domain Structure for InterPro Entry

P09936

UniProtKB/Swiss-Prot:

UCHL1_HUMAN :
  • Belongs to the peptidase C12 family.
Family:
  • Belongs to the peptidase C12 family.
genes like me logo Genes that share domains with UCHL1: view

Function for UCHL1 Gene

Molecular function for UCHL1 Gene

GENATLAS Biochemistry:
ubiquitin carboxy-terminal esterase L1,26.2kDa,abundantly expressed in the brain (neurons and neuroendocrin cells),also found in Lewy bodies,involved in the ubiquitin dependent proteolytic pathway,with a bifunctional regulatory DNA element contributing to neuron restricted transcription,overexpressed in non-small cell lung cancer
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=122 nM for Ub-AMC {ECO:0000269 PubMed:12705903, ECO:0000269 PubMed:8639624, ECO:0000269 PubMed:9774100}; KM=1.20 uM for ubiquitin ethyl ester {ECO:0000269 PubMed:12705903, ECO:0000269 PubMed:8639624, ECO:0000269 PubMed:9774100}; Vmax=0.47 umol/min/mg enzyme toward Ub-AMC {ECO:0000269 PubMed:12705903, ECO:0000269 PubMed:8639624, ECO:0000269 PubMed:9774100}; Vmax=25 umol/min/mg enzyme toward ubiquitin ethyl ester {ECO:0000269 PubMed:12705903, ECO:0000269 PubMed:8639624, ECO:0000269 PubMed:9774100};
UniProtKB/Swiss-Prot CatalyticActivity:
Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).
UniProtKB/Swiss-Prot Function:
Ubiquitin-protein hydrolase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins. This enzyme is a thiol protease that recognizes and hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin. Also binds to free monoubiquitin and may prevent its degradation in lysosomes. The homodimer may have ATP-independent ubiquitin ligase activity.

Enzyme Numbers (IUBMB) for UCHL1 Gene

Gene Ontology (GO) - Molecular Function for UCHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008242 omega peptidase activity IDA 9521656
GO:0016874 ligase activity IEA --
GO:0031694 alpha-2A adrenergic receptor binding IPI 19477270
genes like me logo Genes that share ontologies with UCHL1: view
genes like me logo Genes that share phenotypes with UCHL1: view

Human Phenotype Ontology for UCHL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for UCHL1 Gene

MGI Knock Outs for UCHL1:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for UCHL1 Gene

Localization for UCHL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UCHL1 Gene

Cytoplasm. Endoplasmic reticulum membrane; Lipid-anchor. Note=About 30% of total UCHL1 is associated with membranes in brain.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UCHL1 Gene COMPARTMENTS Subcellular localization image for UCHL1 gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 5
cytoskeleton 3
endoplasmic reticulum 3
mitochondrion 2
plasma membrane 2
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for UCHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA,TAS 16130169
GO:0043209 myelin sheath IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with UCHL1: view

Pathways & Interactions for UCHL1 Gene

genes like me logo Genes that share pathways with UCHL1: view

Pathways by source for UCHL1 Gene

1 KEGG pathway for UCHL1 Gene
1 GeneGo (Thomson Reuters) pathway for UCHL1 Gene
1 Qiagen pathway for UCHL1 Gene

Gene Ontology (GO) - Biological Process for UCHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007409 axonogenesis IEA --
GO:0007412 axon target recognition IEA --
GO:0019233 sensory perception of pain IEA --
GO:0019896 axon transport of mitochondrion IEA --
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process NAS 24252804
genes like me logo Genes that share ontologies with UCHL1: view

No data available for SIGNOR curated interactions for UCHL1 Gene

Drugs & Compounds for UCHL1 Gene

(9) Drugs for UCHL1 Gene - From: Novoseek, Tocris, and ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
LDN 57444 Pharma UCH-L1 inhibitor,reversible competitve, Ubiquitin C-terminal hydrolase-L1 (UCH-L1) inhibitor 0
TCID Pharma 0
WP1130 Pharma Deubiquitinase (DUB) inhibitor, Cell permeable 0
WWL 70 Pharma α/β-hydrolase domain 6 inhibitor, Potent ABHD6 inhibitor 0

(8) Additional Compounds for UCHL1 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(Z)-Pugnac
132489-69-1
2,4-Diamino-6-hydroxypyrimidine
  • 2,4-Diamino-6-hydroxypyrimidine
  • 2,4-Diamino-6-pyrimidinone
  • 2,6-Diamino-4(1H)-pyrimidinone
  • 2,6-Diamino-4(3H)-pyrimidinone
  • 2,6-Diamino-4-hydroxypyrimidine
56-06-4
Flurofamide
70788-28-2
Lys-gamma3-MSH
156159-18-1
genes like me logo Genes that share compounds with UCHL1: view

Transcripts for UCHL1 Gene

Unigene Clusters for UCHL1 Gene

Ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for UCHL1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b
SP1: - -
SP2: - - - -
SP3:
SP4: - -
SP5:

Relevant External Links for UCHL1 Gene

GeneLoc Exon Structure for
UCHL1
ECgene alternative splicing isoforms for
UCHL1

Expression for UCHL1 Gene

mRNA expression in normal human tissues for UCHL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for UCHL1 Gene

This gene is overexpressed in Brain - Hypothalamus (x5.8), Brain - Cortex (x5.6), Brain - Anterior cingulate cortex (BA24) (x5.4), and Brain - Frontal Cortex (BA9) (x5.3).

Protein differential expression in normal tissues from HIPED for UCHL1 Gene

This gene is overexpressed in Amniocyte (23.5), Brain (13.1), and Liver (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for UCHL1 Gene



SOURCE GeneReport for Unigene cluster for UCHL1 Gene Hs.518731

mRNA Expression by UniProt/SwissProt for UCHL1 Gene

P09936-UCHL1_HUMAN
Tissue specificity: Found in neuronal cell bodies and processes throughout the neocortex (at protein level). Expressed in neurons and cells of the diffuse neuroendocrine system and their tumors. Weakly expressed in ovary. Down-regulated in brains from Parkinson disease and Alzheimer disease patients.
genes like me logo Genes that share expression patterns with UCHL1: view

Protein tissue co-expression partners for UCHL1 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for UCHL1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for UCHL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UCHL1 35
  • 99.7 (n)
  • 100 (a)
UCHL1 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia UCHL1 36
  • 86 (a)
OneToOne
UCHL1 35
  • 91.93 (n)
  • 96.86 (a)
dog
(Canis familiaris)
Mammalia UCHL1 35
  • 93.27 (n)
  • 95.96 (a)
UCHL1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Uchl1 16
Uchl1 35
  • 88.04 (n)
  • 95.52 (a)
Uchl1 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UCHL1 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 36 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Uchl1 35
  • 88.34 (n)
  • 95.52 (a)
chicken
(Gallus gallus)
Aves UCH-L1 36
  • 75 (a)
OneToOne
UCHL1 35
  • 75.49 (n)
  • 75.34 (a)
lizard
(Anolis carolinensis)
Reptilia UCHL1 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.6096 35
uchl1 35
  • 65.24 (n)
  • 68.72 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8436 35
zebrafish
(Danio rerio)
Actinopterygii uchl1 35
  • 65.59 (n)
  • 68.98 (a)
wufc55h08 35
uchl1 36
  • 67 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Uch 36
  • 44 (a)
OneToMany
Uch 37
  • 45 (a)
worm
(Caenorhabditis elegans)
Secernentea F46E10.8 37
  • 37 (a)
ubh-1 36
  • 36 (a)
ManyToMany
ubh-2 36
  • 29 (a)
ManyToMany
ubh-3 36
  • 33 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YUH1 36
  • 25 (a)
OneToMany
Species with no ortholog for UCHL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for UCHL1 Gene

ENSEMBL:
Gene Tree for UCHL1 (if available)
TreeFam:
Gene Tree for UCHL1 (if available)

Paralogs for UCHL1 Gene

Paralogs for UCHL1 Gene

(1) SIMAP similar genes for UCHL1 Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for UCHL1 Gene

genes like me logo Genes that share paralogs with UCHL1: view

Variants for UCHL1 Gene

Sequence variations from dbSNP and Humsavar for UCHL1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
VAR_015677 -
VAR_015678 Parkinson disease 5 (PARK5)
VAR_070875 Neurodegeneration with optic atrophy, childhood-onset (NDGOA)
rs3214812 -- 41,261,701(+) TTTTT(-/T/TT)AAGAG intron-variant
rs3775259 -- 41,259,475(-) TAACT(A/G)GATCC intron-variant

Variation tolerance for UCHL1 Gene

Residual Variation Intolerance Score: 45.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.35; 88.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UCHL1 Gene

HapMap Linkage Disequilibrium report
UCHL1
Human Gene Mutation Database (HGMD)
UCHL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for UCHL1 Gene

Disorders for UCHL1 Gene

MalaCards: The human disease database

(51) MalaCards diseases for UCHL1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
neurodegeneration with optic atrophy, childhood onset
  • neurodegeneration with optic atrophy, childhood-onset
parkinson disease 5
  • parkinson disease 5, susceptibility to
parkinson disease susceptibility
uchl1-related parkinson disease susceptibility
  • parkinson disease 5, susceptibility to
early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
- elite association - COSMIC cancer census association via MalaCards
Search UCHL1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

UCHL1_HUMAN
  • Parkinson disease 5 (PARK5) [MIM:613643]: A complex neurodegenerative disorder with manifestations ranging from typical Parkinson disease to dementia with Lewy bodies. Clinical features include parkinsonian symptoms (resting tremor, rigidity, postural instability and bradykinesia), dementia, diffuse Lewy body pathology, autonomic dysfunction, hallucinations and paranoia. {ECO:0000269 PubMed:9774100}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Neurodegeneration with optic atrophy, childhood-onset (NDGOA) [MIM:615491]: A progressive neurodegenerative syndrome characterized by childhood onset blindness, cerebellar ataxia, nystagmus, dorsal column dysfuction, and spasticity with upper motor neuron dysfunction. {ECO:0000269 PubMed:23359680}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for UCHL1

Genetic Association Database (GAD)
UCHL1
Human Genome Epidemiology (HuGE) Navigator
UCHL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UCHL1
genes like me logo Genes that share disorders with UCHL1: view

No data available for Genatlas for UCHL1 Gene

Publications for UCHL1 Gene

  1. UCHL1 is a Parkinson's disease susceptibility gene. (PMID: 15048890) Maraganore D.M. … Rocca W.A. (Ann. Neurol. 2004) 3 4 23 48 67
  2. The gene for human neurone specific ubiquitin C-terminal hydrolase (UCHL1, PGP9.5) maps to chromosome 4p14. (PMID: 1840236) Edwards Y.H. … Day I.N. (Ann. Hum. Genet. 1991) 2 3 23
  3. Ubiquitin carboxy-terminal hydrolase L1 (UCHL1) S18Y polymorphism in Alzheimer's disease. (PMID: 20302621) Zetterberg M. … Zetterberg H. (Mol Neurodegener 2010) 3 23
  4. Ubiquitin C-terminal hydrolase-L1 protects cystic fibrosis transmembrane conductance regulator from early stages of proteasomal degradation. (PMID: 20147297) Henderson M.J. … Zeitlin P.L. (J. Biol. Chem. 2010) 3 23
  5. Cyclopentenone prostaglandin-induced unfolding and aggregation of the Parkinson disease-associated UCH-L1. (PMID: 20231490) Koharudin L.M. … Gronenborn A.M. (Proc. Natl. Acad. Sci. U.S.A. 2010) 3 23

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Sources for UCHL1 Gene

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