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Aliases for UCHL1 Gene

Aliases for UCHL1 Gene

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

External Ids for UCHL1 Gene

Previous Symbols for UCHL1 Gene

  • PARK5

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 Carboxyl-Terminal Esterase L1 (Ubiquitin Thiolesterase)) is a Protein Coding gene. Diseases associated with UCHL1 include parkinson disease 5 and neurodegeneration with optic atrophy, childhood onset. Among its related pathways are Alpha-synuclein signaling and Protein Stability. GO annotations related to this gene include ubiquitin thiolesterase 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.

Gene Wiki entry for UCHL1 Gene

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

Genomics for UCHL1 Gene

Genomic Location for UCHL1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for UCHL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UCHL1 Gene

Regulatory Elements 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

No data available for DME Specific Peptides for UCHL1 Gene

Domains for UCHL1 Gene

Gene Families for UCHL1 Gene

HGNC:
  • PARK :Parkinson disease

Protein Domains for UCHL1 Gene

Graphical View of Domain Structure for InterPro Entry

P09936

UniProtKB/Swiss-Prot:

UCHL1_HUMAN
Family:
  • Belongs to the peptidase C12 family.:
    • P09936
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:0004197 cysteine-type endopeptidase activity IDA 8639624
GO:0004221 ubiquitin thiolesterase activity --
GO:0004843 ubiquitin-specific protease activity IEA --
GO:0005515 protein binding IPI 12082530
GO:0008242 omega peptidase activity IDA 9521656
genes like me logo Genes that share ontologies with UCHL1: view
genes like me logo Genes that share phenotypes with UCHL1: view

miRNA for UCHL1 Gene

No data available for Animal Models , Transcription Factor Targeting 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
endoplasmic reticulum 5
cytosol 4
nucleus 4
cytoskeleton 1
extracellular 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for UCHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm TAS 16130169
GO:0005783 endoplasmic reticulum --
genes like me logo Genes that share ontologies with UCHL1: view

Pathways for UCHL1 Gene

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

Pathways by source for UCHL1 Gene

1 GeneGo (Thomson Reuters) pathway for UCHL1 Gene
1 Qiagen pathway for UCHL1 Gene
2 Cell Signaling Technology pathways for UCHL1 Gene
1 KEGG pathway for UCHL1 Gene

Gene Ontology (GO) - Biological Process for UCHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002931 response to ischemia IEA --
GO:0006511 ubiquitin-dependent protein catabolic process --
GO:0007409 axonogenesis --
GO:0007412 axon target recognition IEA --
GO:0007628 adult walking behavior IEA --
genes like me logo Genes that share ontologies with UCHL1: view

Compounds for UCHL1 Gene

(5) Tocris Compounds for UCHL1 Gene

Compound Action Cas Number
(Z)-Pugnac O-GlcNAcase and beta-hexosaminidase inhibitor [132489-69-1]
Flurofamide Urease inhibitor [70788-28-2]
JW 480 Potent and selective inhibitor of serine hydrolase KIAA1363 (AADACL1) [1354359-53-7]
Thiamet G Potent O-GlcNAcase inhibitor [1009816-48-1]
WWL 70 Potent ABHD6 inhibitor [947669-91-2]

(9) Novoseek inferred chemical compound relationships for UCHL1 Gene

Compound -log(P) Hits PubMed IDs
sodium borohydride 37.1 1
dopamine 20.7 1
12-o-tetradecanoylphorbol 13-acetate 8.3 1
glyceraldehyde 3-phosphate 8.19 1
lysine 0 2
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:

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 (5.8), Brain - Cortex (5.6), Brain - Anterior cingulate cortex (BA24) (5.4), and Brain - Frontal Cortex (BA9) (5.3).

Integrated Proteomics: protein expression 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 expressions with UCHL1: view

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 35
  • 91.93 (n)
  • 96.86 (a)
UCHL1 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UCHL1 35
  • 93.27 (n)
  • 95.96 (a)
UCHL1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Uchl1 35
  • 88.04 (n)
  • 95.52 (a)
Uchl1 16
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)
uchl1 36
  • 67 (a)
OneToOne
wufc55h08 35
fruit fly
(Drosophila melanogaster)
Insecta Uch 36
  • 44 (a)
OneToMany
Uch 37
  • 45 (a)
worm
(Caenorhabditis elegans)
Secernentea ubh-1 36
  • 36 (a)
ManyToMany
ubh-2 36
  • 29 (a)
ManyToMany
ubh-3 36
  • 33 (a)
ManyToMany
F46E10.8 37
  • 37 (a)
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

Selected 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 MAF
rs930758 -- 41,265,163(-) AAGAC(A/G)TAGAT intron-variant
rs998187 -- 41,266,228(-) aaaaa(A/C)agttt intron-variant
rs1960270 -- 41,265,304(-) actgc(A/G)ccttg intron-variant
rs2060914 -- 41,259,116(+) TCGAT(A/T)CTTTG intron-variant
rs2060915 -- 41,259,483(+) TTAGA(C/T)AGAAG intron-variant

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

(2) OMIM Diseases for UCHL1 Gene (191342)

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.

(15) Novoseek inferred disease relationships for UCHL1 Gene

Disease -log(P) Hits PubMed IDs
parkinson disease 79.9 60
neurodegenerative diseases 65.7 5
parkinsonism 52.8 4
neurodegeneration 49.7 3
neurofibrillary tangles 33.3 2

Relevant External Links for UCHL1

GeneTests
UCHL1
GeneReviews
UCHL1
Genetic Association Database (GAD)
UCHL1
Human Genome Epidemiology (HuGE) Navigator
UCHL1
genes like me logo Genes that share disorders with UCHL1: view

Publications for UCHL1 Gene

  1. The ubiquitin carboxy-terminal hydrolase-L1 gene S18Y polymorphism does not confer protection against idiopathic Parkinson's disease. (PMID: 11027850) Mellick G.D. … Silburn P.A. (Neurosci. Lett. 2000) 3 4 23 48
  2. UCHL1 is a Parkinson's disease susceptibility gene. (PMID: 15048890) Maraganore D.M. … Rocca W.A. (Ann. Neurol. 2004) 3 4 23 48
  3. UCHL-1 is not a Parkinson's disease susceptibility gene. (PMID: 16450370) Healy D.G. … Wood N.W. (Ann. Neurol. 2006) 3 4 23 48
  4. Structural basis for conformational plasticity of the Parkinson's disease-associated ubiquitin hydrolase UCH-L1. (PMID: 16537382) Das C. … Petsko G.A. (Proc. Natl. Acad. Sci. U.S.A. 2006) 3 4 23
  5. The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease. (PMID: 16369839) Metzger S. … Riess O. (Neurogenetics 2006) 3 23 48

Products for UCHL1 Gene

  • Addgene plasmids for UCHL1

Sources for UCHL1 Gene

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