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 hg19 (Hinxton)ENSG00000154277 [Gene_View]  chr4:41258898-41270446 [Contig_View]  UCHL1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000154277 [Gene_View]  chr4:41258898-41270446 [Contig_View]  UCHL1 [Vega]
ICGC DataPortalENSG00000154277
cBioPortalUCHL1
AceView (NCBI)UCHL1
Genatlas (Paris)UCHL1
WikiGenes7345
SOURCE (Princeton)UCHL1
Genomic and cartography
GoldenPath hg19 (UCSC)UCHL1  -     chr4:41258898-41270446 +  4p13   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)UCHL1  -     4p13   [Description]    (hg38-Dec_2013)
EnsemblUCHL1 - 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)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 ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
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   
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
Peptide AtlasP09936
HPRD01877
IPIIPI00018352   IPI00555595   IPI00657702   IPI00967971   IPI00967062   IPI00966258   IPI00964945   IPI00967387   
Protein Interaction databases
DIP (DOE-UCLA)P09936
IntAct (EBI)P09936
FunCoupENSG00000154277
BioGRIDUCHL1
IntegromeDBUCHL1
STRING (EMBL)UCHL1
Ontologies - Pathways
QuickGOP09936
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
DoCM (Curated mutations)UCHL1
Wikipedia pathwaysUCHL1
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerUCHL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UCHL1
dbVarUCHL1
ClinVarUCHL1
1000_GenomesUCHL1 
Exome Variant ServerUCHL1
SNP (GeneSNP Utah)UCHL1
SNP : HGBaseUCHL1
Genetic variants : HAPMAPUCHL1
Genomic VariantsUCHL1  UCHL1 [DGVbeta]
Mutations
ICGC Data PortalENSG00000154277 
Somatic Mutations in Cancer : COSMICUCHL1 
CONAN: Copy Number AnalysisUCHL1 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)4:41258898-41270446
Mutations and Diseases : HGMDUCHL1
OMIM191342    613643    615491   
MedgenUCHL1
NextProtP09936 [Medical]
GENETestsUCHL1
Disease Genetic AssociationUCHL1
Huge Navigator UCHL1 [HugePedia]  UCHL1 [HugeCancerGEM]
snp3D : Map Gene to Disease7345
DGIdb (Drug Gene Interaction db)UCHL1
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
GoPubMedUCHL1
iHOPUCHL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 02:11:29 CET 2014
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