Atlas of Genetics and Cytogenetics in Oncology and Haematology

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UCHL1 (ubiquitin C-terminal hydrolase L1)

Identity

Alias_namesPARK5
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
Alias_symbol (synonym)PGP9.5
Uch-L1
Other aliasHEL-117
HEL-S-53
NDGOA
PGP 9.5
PGP95
SPG79
HGNC (Hugo) UCHL1
LocusID (NCBI) 7345
Atlas_Id 42761
Location 4p13  [Link to chromosome band 4p13]
Location_base_pair Starts at 41256881 and ends at 41268429 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  7345  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]  chr4:41256881-41268429 [Contig_View]  UCHL1 [Vega]
ICGC DataPortalENSG00000154277
TCGA cBioPortalUCHL1
AceView (NCBI)UCHL1
Genatlas (Paris)UCHL1
WikiGenes7345
SOURCE (Princeton)UCHL1
Genetics Home Reference (NIH)UCHL1
Genomic and cartography
GoldenPath hg38 (UCSC)UCHL1  -     chr4:41256881-41268429 +  4p13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UCHL1  -     4p13   [Description]    (hg19-Feb_2009)
UCHL1 - 4p13 [CytoView hg19]  UCHL1 - 4p13 [CytoView hg38]
Mapping of homologs : NCBIUCHL1 [Mapview hg19]  UCHL1 [Mapview hg38]
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
Cluster EST : UnigeneHs.518731 [ NCBI ]
CGAP (NCI)Hs.518731
Alternative Splicing GalleryENSG00000154277
Gene ExpressionUCHL1 [ NCBI-GEO ]   UCHL1 [ EBI - ARRAY_EXPRESS ]   UCHL1 [ SEEK ]   UCHL1 [ MEM ]
Gene Expression Viewer (FireBrowse)UCHL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression 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
Catalytic activity : Enzyme3.4.19.12 [ Enzyme-Expasy ]   3.4.19.123.4.19.12 [ IntEnz-EBI ]   3.4.19.12 [ BRENDA ]   3.4.19.12 [ KEGG ]   
PhosPhoSitePlusP09936
Domaine pattern : Prosite (Expaxy)UCH_1 (PS00140)   
Domains : Interpro (EBI)Peptidase_C12_UCH    Peptidase_C12_UCH_sf    UCHL1   
Domain families : Pfam (Sanger)Peptidase_C12 (PF01088)   
Domain families : Pfam (NCBI)pfam01088   
Conserved Domain (NCBI)UCHL1
DMDM Disease mutations7345
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
FunCoupENSG00000154277
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  nucleoplasm  cytoplasm  cytoplasm  cytoplasm  cytoplasm  endoplasmic reticulum membrane  cytosol  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  thiol-dependent ubiquitinyl hydrolase activity  eating behavior  neuronal cell body  ubiquitin binding  proteasome-mediated ubiquitin-dependent protein catabolic process  myelin sheath  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  nucleoplasm  cytoplasm  cytoplasm  cytoplasm  cytoplasm  endoplasmic reticulum membrane  cytosol  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  thiol-dependent ubiquitinyl hydrolase activity  eating behavior  neuronal cell body  ubiquitin binding  proteasome-mediated ubiquitin-dependent protein catabolic process  myelin sheath  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]
dbSNP Single Nucleotide Polymorphism (NCBI)UCHL1
dbVarUCHL1
ClinVarUCHL1
1000_GenomesUCHL1 
Exome Variant ServerUCHL1
ExAC (Exome Aggregation Consortium)ENSG00000154277
GNOMAD BrowserENSG00000154277
Varsome BrowserUCHL1
Genetic variants : HAPMAP7345
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]  
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]
TSGene7345
GENETestsUCHL1
Target ValidationUCHL1
Huge Navigator UCHL1 [HugePedia]
snp3D : Map Gene to Disease7345
BioCentury BCIQUCHL1
ClinGenUCHL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7345
Chemical/Pharm GKB GenePA37160
Clinical trialUCHL1
Miscellaneous
canSAR (ICR)UCHL1 (select the gene name)
DataMed IndexUCHL1
Probes
Litterature
PubMed268 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUCHL1
EVEXUCHL1
GoPubMedUCHL1
iHOPUCHL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu May 2 13:16:13 CEST 2019
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