Atlas of Genetics and Cytogenetics in Oncology and Haematology

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UCHL1 (ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase))

Identity

Other namesHEL-117
NDGOA
PARK5
PGP 9.5
PGP9.5
PGP95
Uch-L1
HGNC (Hugo) UCHL1
LocusID (NCBI) 7345
Location 4p13
Location_base_pair Starts at 41258898 and ends at 41270446 bp from pter ( according to hg19-Feb_2009)
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 carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
GeneCards (Weizmann)UCHL1
Ensembl (Hinxton)ENSG00000154277 [Gene_View]  chr4:41258898-41270446 [Contig_View]  UCHL1 [Vega]
ICGC DataPortalENSG00000154277
cBioPortalUCHL1
AceView (NCBI)UCHL1
Genatlas (Paris)UCHL1
WikiGenes7345
SOURCE (Princeton)NM_004181
Genomic and cartography
GoldenPath (UCSC)UCHL1  -  4p13   chr4:41258898-41270446 +  4p13   [Description]    (hg19-Feb_2009)
EnsemblUCHL1 - 4p13 [CytoView]
Mapping of homologs : NCBIUCHL1 [Mapview]
OMIM191342   613643   615491   
Gene and transcription
Genbank (Entrez)AB209038 AK054579 AK315368 BC000332 BC005117
RefSeq transcript (Entrez)NM_004181
RefSeq genomic (Entrez)AC_000136 NC_000004 NC_018915 NG_012931 NT_006238 NW_001838903 NW_004929317
Consensus coding sequences : CCDS (NCBI)UCHL1
Cluster EST : UnigeneHs.518731 [ NCBI ]
CGAP (NCI)Hs.518731
Alternative Splicing : Fast-db (Paris)GSHG0022555
Alternative Splicing GalleryENSG00000154277
Gene ExpressionUCHL1 [ NCBI-GEO ]     UCHL1 [ SEEK ]   UCHL1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP09936 (Uniprot)
NextProtP09936  [Medical]
With graphics : InterProP09936
Splice isoforms : SwissVarP09936 (Swissvar)
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 ]   
Domaine pattern : Prosite (Expaxy)UCH_1 (PS00140)   
Domains : Interpro (EBI)Peptidase_C12_UCH [organisation]  
Related proteins : CluSTrP09936
Domain families : Pfam (Sanger)Peptidase_C12 (PF01088)   
Domain families : Pfam (NCBI)pfam01088   
DMDM Disease mutations7345
Blocks (Seattle)P09936
PDB (SRS)2ETL    2LEN    3IFW    3IRT    3KVF    3KW5    4DM9   
PDB (PDBSum)2ETL    2LEN    3IFW    3IRT    3KVF    3KW5    4DM9   
PDB (IMB)2ETL    2LEN    3IFW    3IRT    3KVF    3KW5    4DM9   
PDB (RSDB)2ETL    2LEN    3IFW    3IRT    3KVF    3KW5    4DM9   
Human Protein AtlasENSG00000154277 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP09936
HPRD01877
IPIIPI00018352   IPI00555595   IPI00657702   IPI00967971   IPI00967062   IPI00966258   IPI00964945   IPI00967387   
Protein Interaction databases
DIP (DOE-UCLA)P09936
IntAct (EBI)P09936
FunCoupENSG00000154277
BioGRIDUCHL1
InParanoidP09936
Interologous Interaction database P09936
IntegromeDBUCHL1
STRING (EMBL)UCHL1
Ontologies - Pathways
Ontology : AmiGOresponse to ischemia  cysteine-type endopeptidase activity  ubiquitin thiolesterase activity  ubiquitin-specific protease activity  protein binding  nucleus  nucleolus  cytoplasm  cytoplasm  cytoplasm  endoplasmic reticulum membrane  cytosol  plasma membrane  ubiquitin-dependent protein catabolic process  axon target recognition  adult walking behavior  cell death  omega peptidase activity  cell proliferation  protein deubiquitination  ligase activity  sensory perception of pain  axon transport of mitochondrion  axon  alpha-2A adrenergic receptor binding  eating behavior  neuronal cell body  ubiquitin binding  negative regulation of MAP kinase activity  muscle fiber development  neuromuscular process  extracellular vesicular exosome  
Ontology : EGO-EBIresponse to ischemia  cysteine-type endopeptidase activity  ubiquitin thiolesterase activity  ubiquitin-specific protease activity  protein binding  nucleus  nucleolus  cytoplasm  cytoplasm  cytoplasm  endoplasmic reticulum membrane  cytosol  plasma membrane  ubiquitin-dependent protein catabolic process  axon target recognition  adult walking behavior  cell death  omega peptidase activity  cell proliferation  protein deubiquitination  ligase activity  sensory perception of pain  axon transport of mitochondrion  axon  alpha-2A adrenergic receptor binding  eating behavior  neuronal cell body  ubiquitin binding  negative regulation of MAP kinase activity  muscle fiber development  neuromuscular process  extracellular vesicular exosome  
Pathways : KEGGParkinson's disease   
Protein Interaction DatabaseUCHL1
Wikipedia pathwaysUCHL1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)UCHL1
snp3D : Map Gene to Disease7345
SNP (GeneSNP Utah)UCHL1
SNP : HGBaseUCHL1
Genetic variants : HAPMAPUCHL1
Exome VariantUCHL1
1000_GenomesUCHL1 
ICGC programENSG00000154277 
Somatic Mutations in Cancer : COSMICUCHL1 
CONAN: Copy Number AnalysisUCHL1 
Mutations and Diseases : HGMDUCHL1
Genomic VariantsUCHL1  UCHL1 [DGVbeta]
dbVarUCHL1
ClinVarUCHL1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM191342    613643    615491   
MedgenUCHL1
GENETestsUCHL1
Disease Genetic AssociationUCHL1
Huge Navigator UCHL1 [HugePedia]  UCHL1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneUCHL1
Homology/Alignments : Family Browser (UCSC)UCHL1
Phylogenetic Trees/Animal Genes : TreeFamUCHL1
Chemical/Protein Interactions : CTD7345
Chemical/Pharm GKB GenePA37160
Clinical trialUCHL1
Cancer Resource (Charite)ENSG00000154277
Other databases
Probes
Litterature
PubMed199 Pubmed reference(s) in Entrez
CoreMineUCHL1
iHOPUCHL1
OncoSearchUCHL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jul 30 14:20:40 CEST 2014
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