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UCHL5 (ubiquitin C-terminal hydrolase L5)

Identity

Alias_namesubiquitin carboxyl-terminal hydrolase L5
Alias_symbol (synonym)UCH37
CGI-70
INO80R
Other aliasUCH-L5
HGNC (Hugo) UCHL5
LocusID (NCBI) 51377
Atlas_Id 46496
Location 1q31.2  [Link to chromosome band 1q31]
Location_base_pair Starts at 193012366 and ends at 193059393 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PI4KA (22q11.21) / UCHL5 (1q31.2)UCHL5 (1q31.2) / HDAC2 (6q21)UCHL5 (1q31.2) / TARSL2 (15q26.3)

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)UCHL5   19678
Cards
Entrez_Gene (NCBI)UCHL5  51377  ubiquitin C-terminal hydrolase L5
AliasesCGI-70; INO80R; UCH-L5; UCH37
GeneCards (Weizmann)UCHL5
Ensembl hg19 (Hinxton)ENSG00000116750 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000116750 [Gene_View]  chr1:193012366-193059393 [Contig_View]  UCHL5 [Vega]
ICGC DataPortalENSG00000116750
TCGA cBioPortalUCHL5
AceView (NCBI)UCHL5
Genatlas (Paris)UCHL5
WikiGenes51377
SOURCE (Princeton)UCHL5
Genetics Home Reference (NIH)UCHL5
Genomic and cartography
GoldenPath hg38 (UCSC)UCHL5  -     chr1:193012366-193059393 -  1q31.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UCHL5  -     1q31.2   [Description]    (hg19-Feb_2009)
EnsemblUCHL5 - 1q31.2 [CytoView hg19]  UCHL5 - 1q31.2 [CytoView hg38]
Mapping of homologs : NCBIUCHL5 [Mapview hg19]  UCHL5 [Mapview hg38]
OMIM610667   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_001199261 NM_001199262 NM_001199263 NM_001350840 NM_001350841 NM_001350842 NM_001350843 NM_001350844 NM_001350845 NM_001350846 NM_001350847 NM_001350848 NM_001350849 NM_001350850 NM_001350851 NM_001350852 NM_015984
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)UCHL5
Cluster EST : UnigeneHs.145469 [ NCBI ]
CGAP (NCI)Hs.145469
Alternative Splicing GalleryENSG00000116750
Gene ExpressionUCHL5 [ NCBI-GEO ]   UCHL5 [ EBI - ARRAY_EXPRESS ]   UCHL5 [ SEEK ]   UCHL5 [ MEM ]
Gene Expression Viewer (FireBrowse)UCHL5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51377
GTEX Portal (Tissue expression)UCHL5
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y5K5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y5K5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y5K5
Splice isoforms : SwissVarQ9Y5K5
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 ]   
PhosPhoSitePlusQ9Y5K5
Domains : Interpro (EBI)Peptidase_C12_UCH    Ubiquitinyl_hydrolase_UCH37    UCH37   
Domain families : Pfam (Sanger)Peptidase_C12 (PF01088)   
Domain families : Pfam (NCBI)pfam01088   
Conserved Domain (NCBI)UCHL5
DMDM Disease mutations51377
Blocks (Seattle)UCHL5
PDB (SRS)3A7S    3IHR    3RII    3RIS    3TB3    4UEL    4UEM    4UF5    4UF6    4WLP   
PDB (PDBSum)3A7S    3IHR    3RII    3RIS    3TB3    4UEL    4UEM    4UF5    4UF6    4WLP   
PDB (IMB)3A7S    3IHR    3RII    3RIS    3TB3    4UEL    4UEM    4UF5    4UF6    4WLP   
PDB (RSDB)3A7S    3IHR    3RII    3RIS    3TB3    4UEL    4UEM    4UF5    4UF6    4WLP   
Structural Biology KnowledgeBase3A7S    3IHR    3RII    3RIS    3TB3    4UEL    4UEM    4UF5    4UF6    4WLP   
SCOP (Structural Classification of Proteins)3A7S    3IHR    3RII    3RIS    3TB3    4UEL    4UEM    4UF5    4UF6    4WLP   
CATH (Classification of proteins structures)3A7S    3IHR    3RII    3RIS    3TB3    4UEL    4UEM    4UF5    4UF6    4WLP   
SuperfamilyQ9Y5K5
Human Protein AtlasENSG00000116750
Peptide AtlasQ9Y5K5
HPRD10293
IPIIPI00299313   IPI00219512   IPI00219513   IPI00549820   IPI00641843   IPI00549253   IPI00642374   IPI00549849   IPI00640279   IPI00642987   IPI00550896   IPI01013523   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y5K5
IntAct (EBI)Q9Y5K5
FunCoupENSG00000116750
BioGRIDUCHL5
STRING (EMBL)UCHL5
ZODIACUCHL5
Ontologies - Pathways
QuickGOQ9Y5K5
Ontology : AmiGORNA binding  thiol-dependent ubiquitin-specific protease activity  endopeptidase inhibitor activity  protein binding  nucleus  nucleoplasm  nucleoplasm  mitochondrion  cytosol  cytosol  DNA repair  DNA recombination  transcription, DNA-templated  regulation of transcription, DNA-templated  ubiquitin-dependent protein catabolic process  negative regulation of endopeptidase activity  protein deubiquitination  protein deubiquitination  lateral ventricle development  midbrain development  Ino80 complex  Ino80 complex  cytosolic proteasome complex  forebrain morphogenesis  regulation of proteasomal protein catabolic process  proteasome binding  
Ontology : EGO-EBIRNA binding  thiol-dependent ubiquitin-specific protease activity  endopeptidase inhibitor activity  protein binding  nucleus  nucleoplasm  nucleoplasm  mitochondrion  cytosol  cytosol  DNA repair  DNA recombination  transcription, DNA-templated  regulation of transcription, DNA-templated  ubiquitin-dependent protein catabolic process  negative regulation of endopeptidase activity  protein deubiquitination  protein deubiquitination  lateral ventricle development  midbrain development  Ino80 complex  Ino80 complex  cytosolic proteasome complex  forebrain morphogenesis  regulation of proteasomal protein catabolic process  proteasome binding  
NDEx NetworkUCHL5
Atlas of Cancer Signalling NetworkUCHL5
Wikipedia pathwaysUCHL5
Orthology - Evolution
OrthoDB51377
GeneTree (enSembl)ENSG00000116750
Phylogenetic Trees/Animal Genes : TreeFamUCHL5
HOVERGENQ9Y5K5
HOGENOMQ9Y5K5
Homologs : HomoloGeneUCHL5
Homology/Alignments : Family Browser (UCSC)UCHL5
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUCHL5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UCHL5
dbVarUCHL5
ClinVarUCHL5
1000_GenomesUCHL5 
Exome Variant ServerUCHL5
ExAC (Exome Aggregation Consortium)UCHL5 (select the gene name)
Genetic variants : HAPMAP51377
Genomic Variants (DGV)UCHL5 [DGVbeta]
DECIPHERUCHL5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUCHL5 
Mutations
ICGC Data PortalUCHL5 
TCGA Data PortalUCHL5 
Broad Tumor PortalUCHL5
OASIS PortalUCHL5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUCHL5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDUCHL5
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 UCHL5
DgiDB (Drug Gene Interaction Database)UCHL5
DoCM (Curated mutations)UCHL5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UCHL5 (select a term)
intoGenUCHL5
Cancer3DUCHL5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610667   
Orphanet
MedgenUCHL5
Genetic Testing Registry UCHL5
NextProtQ9Y5K5 [Medical]
TSGene51377
GENETestsUCHL5
Target ValidationUCHL5
Huge Navigator UCHL5 [HugePedia]
snp3D : Map Gene to Disease51377
BioCentury BCIQUCHL5
ClinGenUCHL5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51377
Chemical/Pharm GKB GenePA134916228
Clinical trialUCHL5
Miscellaneous
canSAR (ICR)UCHL5 (select the gene name)
Probes
Litterature
PubMed74 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUCHL5
EVEXUCHL5
GoPubMedUCHL5
iHOPUCHL5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 14:11:05 CEST 2017

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