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UCHL1 (ubiquitin C-terminal hydrolase L1)

Identity

Alias (NCBI)HEL-117
HEL-S-53
NDGOA
PARK5
PGP 9.5
PGP9.5
PGP95
SPG79
Uch-L1
HGNC (Hugo) UCHL1
HGNC Alias symbPGP9.5
Uch-L1
HGNC Alias nameubiquitin thiolesterase
HGNC Previous namePARK5
HGNC Previous nameubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
LocusID (NCBI) 7345
Atlas_Id 42761
Location 4p13  [Link to chromosome band 4p13]
Location_base_pair Starts at 41256928 and ends at 41268455 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
IQSEC1 (3p25.2) / UCHL1 (4p13)LIMCH1 (4p13) / UCHL1 (4p13)UCHL1 (4p13) / USP22 (17p11.2)
UCHL1 (4p13) / YARS2 (12p11.21)LIMCH1 4p13 / UCHL1 4p13

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)UCHL1   12513
Cards
Entrez_Gene (NCBI)UCHL1    ubiquitin C-terminal hydrolase L1
AliasesHEL-117; HEL-S-53; NDGOA; PARK5; 
PGP; PGP9.5; PGP95; SPG79; Uch-L1
GeneCards (Weizmann)UCHL1
Ensembl hg19 (Hinxton)ENSG00000154277 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000154277 [Gene_View]  ENSG00000154277 [Sequence]  chr4:41256928-41268455 [Contig_View]  UCHL1 [Vega]
ICGC DataPortalENSG00000154277
TCGA cBioPortalUCHL1
AceView (NCBI)UCHL1
Genatlas (Paris)UCHL1
SOURCE (Princeton)UCHL1
Genetics Home Reference (NIH)UCHL1
Genomic and cartography
GoldenPath hg38 (UCSC)UCHL1  -     chr4:41256928-41268455 +  4p13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UCHL1  -     4p13   [Description]    (hg19-Feb_2009)
GoldenPathUCHL1 - 4p13 [CytoView hg19]  UCHL1 - 4p13 [CytoView hg38]
ImmunoBaseENSG00000154277
genome Data Viewer NCBIUCHL1 [Mapview hg19]  
OMIM191342   613643   615491   
Gene and transcription
Genbank (Entrez)AB209038 AK054579 AK315368 BC000332 BC005117
RefSeq transcript (Entrez)NM_004181
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)UCHL1
Alternative Splicing GalleryENSG00000154277
Gene ExpressionUCHL1 [ NCBI-GEO ]   UCHL1 [ EBI - ARRAY_EXPRESS ]   UCHL1 [ SEEK ]   UCHL1 [ MEM ]
Gene Expression Viewer (FireBrowse)UCHL1 [ Firebrowse - Broad ]
GenevisibleExpression of UCHL1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7345
GTEX Portal (Tissue expression)UCHL1
Human Protein AtlasENSG00000154277-UCHL1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP09936   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP09936  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP09936
Splice isoforms : SwissVarP09936
PhosPhoSitePlusP09936
Domaine pattern : Prosite (Expaxy)UCH_1 (PS00140)   
Domains : Interpro (EBI)Papain-like_cys_pep_sf    Peptidase_C12_UCH    Peptidase_C12_UCH_sf    UCHL1   
Domain families : Pfam (Sanger)Peptidase_C12 (PF01088)   
Domain families : Pfam (NCBI)pfam01088   
Conserved Domain (NCBI)UCHL1
Blocks (Seattle)UCHL1
PDB (RSDB)2ETL    2LEN    3IFW    3IRT    3KVF    3KW5    4DM9    4JKJ   
PDB Europe2ETL    2LEN    3IFW    3IRT    3KVF    3KW5    4DM9    4JKJ   
PDB (PDBSum)2ETL    2LEN    3IFW    3IRT    3KVF    3KW5    4DM9    4JKJ   
PDB (IMB)2ETL    2LEN    3IFW    3IRT    3KVF    3KW5    4DM9    4JKJ   
Structural Biology KnowledgeBase2ETL    2LEN    3IFW    3IRT    3KVF    3KW5    4DM9    4JKJ   
SCOP (Structural Classification of Proteins)2ETL    2LEN    3IFW    3IRT    3KVF    3KW5    4DM9    4JKJ   
CATH (Classification of proteins structures)2ETL    2LEN    3IFW    3IRT    3KVF    3KW5    4DM9    4JKJ   
SuperfamilyP09936
Human Protein Atlas [tissue]ENSG00000154277-UCHL1 [tissue]
Peptide AtlasP09936
HPRD01877
IPIIPI00018352   IPI00555595   IPI00657702   IPI00967971   IPI00967062   IPI00966258   IPI00964945   IPI00967387   
Protein Interaction databases
DIP (DOE-UCLA)P09936
IntAct (EBI)P09936
BioGRIDUCHL1
STRING (EMBL)UCHL1
ZODIACUCHL1
Ontologies - Pathways
QuickGOP09936
Ontology : AmiGOresponse to ischemia  cysteine-type endopeptidase activity  thiol-dependent ubiquitin-specific protease activity  thiol-dependent ubiquitin-specific protease activity  protein binding  cytoplasm  cytoplasm  cytoplasm  cytoplasm  endoplasmic reticulum membrane  cytosol  plasma membrane  axon target recognition  adult walking behavior  omega peptidase activity  cell proliferation  regulation of macroautophagy  protein deubiquitination  protein deubiquitination  protein deubiquitination  ligase activity  sensory perception of pain  axonal transport of mitochondrion  ubiquitin protein ligase binding  alpha-2A adrenergic receptor binding  cellular response to drug  thiol-dependent ubiquitinyl hydrolase activity  eating behavior  neuronal cell body  ubiquitin binding  proteasome-mediated ubiquitin-dependent protein catabolic process  negative regulation of MAP kinase activity  neuron projection terminus  muscle fiber development  neuromuscular process  axon cytoplasm  
Ontology : EGO-EBIresponse to ischemia  cysteine-type endopeptidase activity  thiol-dependent ubiquitin-specific protease activity  thiol-dependent ubiquitin-specific protease activity  protein binding  cytoplasm  cytoplasm  cytoplasm  cytoplasm  endoplasmic reticulum membrane  cytosol  plasma membrane  axon target recognition  adult walking behavior  omega peptidase activity  cell proliferation  regulation of macroautophagy  protein deubiquitination  protein deubiquitination  protein deubiquitination  ligase activity  sensory perception of pain  axonal transport of mitochondrion  ubiquitin protein ligase binding  alpha-2A adrenergic receptor binding  cellular response to drug  thiol-dependent ubiquitinyl hydrolase activity  eating behavior  neuronal cell body  ubiquitin binding  proteasome-mediated ubiquitin-dependent protein catabolic process  negative regulation of MAP kinase activity  neuron projection terminus  muscle fiber development  neuromuscular process  axon cytoplasm  
Pathways : KEGGParkinson's disease   
NDEx NetworkUCHL1
Atlas of Cancer Signalling NetworkUCHL1
Wikipedia pathwaysUCHL1
Orthology - Evolution
OrthoDB7345
GeneTree (enSembl)ENSG00000154277
Phylogenetic Trees/Animal Genes : TreeFamUCHL1
HOGENOMP09936
Homologs : HomoloGeneUCHL1
Homology/Alignments : Family Browser (UCSC)UCHL1
Gene fusions - Rearrangements
Fusion PortalLIMCH1 4p13 UCHL1 4p13 PRAD
Fusion : QuiverUCHL1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUCHL1 [hg38]
dbVarUCHL1
ClinVarUCHL1
MonarchUCHL1
1000_GenomesUCHL1 
Exome Variant ServerUCHL1
GNOMAD BrowserENSG00000154277
Varsome BrowserUCHL1
Genomic Variants (DGV)UCHL1 [DGVbeta]
DECIPHERUCHL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUCHL1 
Mutations
ICGC Data PortalUCHL1 
TCGA Data PortalUCHL1 
Broad Tumor PortalUCHL1
OASIS PortalUCHL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUCHL1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DUCHL1
Mutations and Diseases : HGMDUCHL1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch UCHL1
DgiDB (Drug Gene Interaction Database)UCHL1
DoCM (Curated mutations)UCHL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UCHL1 (select a term)
intoGenUCHL1
Cancer3DUCHL1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM191342    613643    615491   
Orphanet932    22093   
DisGeNETUCHL1
MedgenUCHL1
Genetic Testing Registry UCHL1
NextProtP09936 [Medical]
GENETestsUCHL1
Target ValidationUCHL1
Huge Navigator UCHL1 [HugePedia]
ClinGenUCHL1
Clinical trials, drugs, therapy
MyCancerGenomeUCHL1
Protein Interactions : CTD
Pharm GKB GenePA37160
PharosP09936
Clinical trialUCHL1
Miscellaneous
canSAR (ICR)UCHL1 (select the gene name)
HarmonizomeUCHL1
DataMed IndexUCHL1
Probes
Litterature
PubMed293 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXUCHL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Fri Jan 1 18:43:19 CET 2021
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