Aliases for UCHL5 Gene

Aliases for UCHL5 Gene

  • Ubiquitin C-Terminal Hydrolase L5 2 3 5
  • UCH37 2 3 4
  • Ubiquitin Carboxyl-Terminal Hydrolase Isozyme L5 3 4
  • Ubiquitin Carboxyl-Terminal Hydrolase L5 2 3
  • Ubiquitin C-Terminal Hydrolase UCH37 3 4
  • Ubiquitin Thioesterase L5 3 4
  • INO80 Complex Subunit R 2 3
  • EC 3.4.19.12 4 50
  • CGI-70 2 3
  • INO80R 2 3
  • UCH-L5 3 4
  • Ubiquitin Carboxyl-Terminal Esterase L5 3
  • UCHL5 5

External Ids for UCHL5 Gene

Previous GeneCards Identifiers for UCHL5 Gene

  • GC01M188499
  • GC01M189450
  • GC01M190273
  • GC01M189716
  • GC01M191251
  • GC01M192984
  • GC01M164220

Summaries for UCHL5 Gene

GeneCards Summary for UCHL5 Gene

UCHL5 (Ubiquitin C-Terminal Hydrolase L5) is a Protein Coding gene. Diseases associated with UCHL5 include Cannabis Dependence and Autosomal Dominant Cerebellar Ataxia. Among its related pathways are Signaling by GPCR and Deubiquitination. Gene Ontology (GO) annotations related to this gene include endopeptidase inhibitor activity. An important paralog of this gene is BAP1.

UniProtKB/Swiss-Prot Summary for UCHL5 Gene

  • Protease that specifically cleaves 'Lys-48'-linked polyubiquitin chains. Deubiquitinating enzyme associated with the 19S regulatory subunit of the 26S proteasome. Putative regulatory component of the INO80 complex; however is inactive in the INO80 complex and is activated by a transient interaction of the INO80 complex with the proteasome via ADRM1.

Gene Wiki entry for UCHL5 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UCHL5 Gene

Genomics for UCHL5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for UCHL5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J193057 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 255.5 +0.5 510 5.1 BCLAF1 SP1 ZNF207 ZNF600 MYC NCOR1 IKZF1 SIX5 ZNF580 ZNF592 UCHL5 HSALNG0009319 RO60 lnc-GLRX2-2 ZNF101P2 B3GALT2 SCARNA18B
GH01J193007 Enhancer 0.8 ENCODE 15.3 +52.0 52024 0.3 CEBPA CHD4 FOXA1 NONO THAP11 FOXA2 KDM6A MAFF RXRA SAP130 UCHL5 SCARNA18B RO60 HSALNG0009312 RGS2
GH01J193103 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 4.6 -44.8 -44760 3.4 NCOR1 IKZF1 MYC ZNF600 JUND ZNF592 POLR2A BRCA1 NFIC YY1 GLRX2 HSALNG0009322 ZNF101P2 B3GALT2 UCHL5 lnc-GLRX2-1
GH01J193183 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 4.2 -126.5 -126460 9.2 ZNF654 ATF2 CTCF TRIM22 MAFF RAD21 RFX5 SMC3 ZNF316 NFE2 B3GALT2 CDC73 MIR1278 UCHL5 piR-34822-023
GH01J193067 Enhancer 0.9 Ensembl dbSUPER 5.2 -8.2 -8161 1.8 NCOR1 ZNF592 NFIC BHLHE40 MNT TAL1 ZFP91 MYNN STAT5A THRAP3 CDC73 MIR1278 B3GALT2 UCHL5 HSALNG0009319 RO60 AB372581 GLRX2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UCHL5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UCHL5

Top Transcription factor binding sites by QIAGEN in the UCHL5 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • c-Myc
  • FOXJ2
  • FOXJ2 (long isoform)
  • IRF-1
  • Max1
  • Pax-6

Genomic Locations for UCHL5 Gene

Latest Assembly
chr1:193,012,250-193,060,140
(GRCh38/hg38)
Size:
47,891 bases
Orientation:
Minus strand

Previous Assembly
chr1:192,981,384-193,029,206
(GRCh37/hg19 by Entrez Gene)
Size:
47,823 bases
Orientation:
Minus strand

chr1:192,981,380-193,029,237
(GRCh37/hg19 by Ensembl)
Size:
47,858 bases
Orientation:
Minus strand

Genomic View for UCHL5 Gene

Genes around UCHL5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UCHL5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UCHL5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UCHL5 Gene

Proteins for UCHL5 Gene

  • Protein details for UCHL5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5K5-UCHL5_HUMAN
    Recommended name:
    Ubiquitin carboxyl-terminal hydrolase isozyme L5
    Protein Accession:
    Q9Y5K5
    Secondary Accessions:
    • Q5LJA6
    • Q5LJA7
    • Q8TBS4
    • Q96BJ9
    • Q9H1W5
    • Q9P0I3
    • Q9UQN2

    Protein attributes for UCHL5 Gene

    Size:
    329 amino acids
    Molecular mass:
    37607 Da
    Quaternary structure:
    • Component of the 19S (PA700) regulatory complex of the 26S proteasome. Interacts with ADRM1 and NFRKB; in vitro ADRM1 and NFRKB compete for interaction with UCHL5. Component of the INO80 complex; specifically part of a complex module associated with N-terminus of INO80.

    Three dimensional structures from OCA and Proteopedia for UCHL5 Gene

    Alternative splice isoforms for UCHL5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UCHL5 Gene

Selected DME Specific Peptides for UCHL5 Gene

Q9Y5K5:
  • AFHFVSYVP
  • FEKLKPVHGLIFLFKWQPGEEPAGSVVQDSRL
  • LSAIQSEVA
  • ENIRRKHN
  • QKYSEGEI
  • ESDPGVFTE

Post-translational modifications for UCHL5 Gene

  • Ubiquitination at Lys47, Lys154, Lys158, Lys206, Lys210, Lys234, Lys277, Lys282, and Lys315
  • Modification sites at PhosphoSitePlus

Domains & Families for UCHL5 Gene

Gene Families for UCHL5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for UCHL5 Gene

InterPro:
Blocks:
  • Ubiquitin carboxyl-terminal hydrolase, family 1

Suggested Antigen Peptide Sequences for UCHL5 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60356, highly similar to Ubiquitin carboxyl-terminal hydrolase isozymeL5 (EC 3.4.19.12) (B4DW59_HUMAN)
  • cDNA, FLJ78963, highly similar to Ubiquitin carboxyl-terminal hydrolase isozyme L5 (EC 3.4.19.12) (B7Z9U9_HUMAN)
  • Ubiquitin carboxyl-terminal hydrolase L5 (Q5LJA3_HUMAN)
  • Ubiquitin carboxyl-terminal hydrolase L5 (Q5LJA9_HUMAN)
  • Ubiquitin carboxyl-terminal hydrolase L5 (Q5LJB2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y5K5

UniProtKB/Swiss-Prot:

UCHL5_HUMAN :
  • Belongs to the peptidase C12 family.
Family:
  • Belongs to the peptidase C12 family.
genes like me logo Genes that share domains with UCHL5: view

Function for UCHL5 Gene

Molecular function for UCHL5 Gene

UniProtKB/Swiss-Prot Function:
Protease that specifically cleaves 'Lys-48'-linked polyubiquitin chains. Deubiquitinating enzyme associated with the 19S regulatory subunit of the 26S proteasome. Putative regulatory component of the INO80 complex; however is inactive in the INO80 complex and is activated by a transient interaction of the INO80 complex with the proteasome via ADRM1.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).; EC=3.4.19.12;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by ADRM1. Inhibited by interaction with NFRKB.

Enzyme Numbers (IUBMB) for UCHL5 Gene

Phenotypes From GWAS Catalog for UCHL5 Gene

Gene Ontology (GO) - Molecular Function for UCHL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0004843 thiol-dependent ubiquitin-specific protease activity IEA,IMP 28992318
GO:0004866 endopeptidase inhibitor activity IMP 18162577
GO:0005515 protein binding IPI 11163772
GO:0008233 peptidase activity IEA --
genes like me logo Genes that share ontologies with UCHL5: view
genes like me logo Genes that share phenotypes with UCHL5: view

Animal Models for UCHL5 Gene

MGI Knock Outs for UCHL5:
  • Uchl5 Uchl5<tm1(NCOM)Mfgc>

Animal Models for research

  • Taconic Biosciences Mouse Models for UCHL5

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UCHL5

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for UCHL5 Gene

Localization for UCHL5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UCHL5 Gene

Cytoplasm. Nucleus. Note=Associates with the proteasome 19S subunit in the cytoplasm. Associates with the INO80 complex in the nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UCHL5 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 4
cytoskeleton 2
endoplasmic reticulum 2
lysosome 2
plasma membrane 1
extracellular 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoli (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UCHL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000502 proteasome complex IEA --
GO:0005634 nucleus IEA,IDA 18922472
GO:0005654 nucleoplasm IDA,TAS --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IBA 21873635
genes like me logo Genes that share ontologies with UCHL5: view

Pathways & Interactions for UCHL5 Gene

genes like me logo Genes that share pathways with UCHL5: view

Pathways by source for UCHL5 Gene

SIGNOR curated interactions for UCHL5 Gene

Activates:

Gene Ontology (GO) - Biological Process for UCHL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006310 DNA recombination IEA --
GO:0006508 proteolysis IEA --
GO:0006511 ubiquitin-dependent protein catabolic process IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
genes like me logo Genes that share ontologies with UCHL5: view

Drugs & Compounds for UCHL5 Gene

(1) Drugs for UCHL5 Gene - From: ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
WP1130 Pharma Deubiquitinase (DUB) inhibitor, Cell permeable 0

(1) ApexBio Compounds for UCHL5 Gene

Compound Action Cas Number
WP1130 Deubiquitinase (DUB) inhibitor, Cell permeable 856243-80-6
genes like me logo Genes that share compounds with UCHL5: view

Drug products for research

Transcripts for UCHL5 Gene

mRNA/cDNA for UCHL5 Gene

17 REFSEQ mRNAs :
30 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UCHL5

Alternative Splicing Database (ASD) splice patterns (SP) for UCHL5 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c · 15d
SP1: - - -
SP2: - - - -
SP3: - - - - - -
SP4: - - - - - -
SP5: - - -
SP6: - - - - - - - -
SP7: - - -
SP8: -
SP9:

Relevant External Links for UCHL5 Gene

GeneLoc Exon Structure for
UCHL5

Expression for UCHL5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UCHL5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for UCHL5 Gene

This gene is overexpressed in Skin (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UCHL5 Gene



Protein tissue co-expression partners for UCHL5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UCHL5

SOURCE GeneReport for Unigene cluster for UCHL5 Gene:

Hs.145469

Evidence on tissue expression from TISSUES for UCHL5 Gene

  • Liver(4.5)
  • Lung(4.4)
  • Adrenal gland(4.2)
  • Nervous system(4.1)
  • Kidney(2.5)
  • Heart(2.3)
  • Eye(2.2)
  • Muscle(2.2)
  • Spleen(2.2)
  • Intestine(2.2)
  • Skin(2.1)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with UCHL5: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for UCHL5 Gene

Orthologs for UCHL5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UCHL5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia UCHL5 29 30
  • 99.89 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia UCHL5 29 30
  • 94.83 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia UCHL5 29 30
  • 94.51 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Uchl5 29
  • 92.17 (n)
Oppossum
(Monodelphis domestica)
Mammalia UCHL5 30
  • 92 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia UCHL5 30
  • 91 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Uchl5 29 16 30
  • 90.88 (n)
OneToOne
Chicken
(Gallus gallus)
Aves UCHL5 29 30
  • 84.82 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia UCHL5 30
  • 94 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia uchl5 29
  • 78.42 (n)
Zebrafish
(Danio rerio)
Actinopterygii uchl5 29 30
  • 74.67 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005540 29
  • 59.77 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Uch-L3 29 30
  • 59.12 (n)
OneToMany
CG1950 30
  • 47 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ubh-4 29 30
  • 54.69 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons UCH2 29
  • 55.52 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.1514 29
Rice
(Oryza sativa)
Liliopsida Os02g0822200 29
  • 56.26 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4974 30
  • 57 (a)
OneToOne
Species where no ortholog for UCHL5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for UCHL5 Gene

ENSEMBL:
Gene Tree for UCHL5 (if available)
TreeFam:
Gene Tree for UCHL5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UCHL5: view image
Alliance of Genome Resources:
Additional Orthologs for UCHL5

Paralogs for UCHL5 Gene

Paralogs for UCHL5 Gene

(1) SIMAP similar genes for UCHL5 Gene using alignment to 11 proteins:

  • UCHL5_HUMAN
  • B4DW59_HUMAN
  • B7Z9U9_HUMAN
  • H0Y4E0_HUMAN
  • H0Y4K0_HUMAN
  • H0Y636_HUMAN
  • H0Y6Y4_HUMAN
  • Q5LJA5_HUMAN
  • Q5LJA9_HUMAN
  • Q5LJB0_HUMAN
  • Q5LJB1_HUMAN

Pseudogenes.org Pseudogenes for UCHL5 Gene

genes like me logo Genes that share paralogs with UCHL5: view

Variants for UCHL5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UCHL5 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs112462491 Benign: not provided 193,023,840(-) G/A
NM_001199261.3(UCHL5):c.732+4C>T
VAR_011613 -- p.Ile197Phe

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for UCHL5 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for UCHL5 Gene

Variant ID Type Subtype PubMed ID
dgv498n100 CNV loss 25217958
nsv3966 CNV deletion 18451855
nsv466994 CNV loss 19166990
nsv498699 CNV loss 21111241
nsv548658 CNV loss 21841781

Variation tolerance for UCHL5 Gene

Residual Variation Intolerance Score: 38.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.54; 11.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UCHL5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
UCHL5
Leiden Open Variation Database (LOVD)
UCHL5

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UCHL5 Gene

Disorders for UCHL5 Gene

MalaCards: The human disease database

(3) MalaCards diseases for UCHL5 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
cannabis dependence
  • marijuana abuse
autosomal dominant cerebellar ataxia
  • spinocerebellar ataxia
myeloma, multiple
  • multiple myeloma, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search UCHL5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for UCHL5

genes like me logo Genes that share disorders with UCHL5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UCHL5 Gene

Publications for UCHL5 Gene

  1. Proteasome recruitment and activation of the Uch37 deubiquitinating enzyme by Adrm1. (PMID: 16906146) Yao T … Cohen RE (Nature cell biology 2006) 3 4 22
  2. The deubiquitinating enzyme UCH37 interacts with Smads and regulates TGF-beta signalling. (PMID: 16027725) Wicks SJ … Chantry A (Oncogene 2005) 2 3 22
  3. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 2 3 4
  4. Subunit organization of the human INO80 chromatin remodeling complex: an evolutionarily conserved core complex catalyzes ATP-dependent nucleosome remodeling. (PMID: 21303910) Chen L … Conaway RC (The Journal of biological chemistry 2011) 3 4
  5. A genome-wide association study of DSM-IV cannabis dependence. (PMID: 21668797) Agrawal A … Bierut LJ (Addiction biology 2011) 3 40

Products for UCHL5 Gene

Sources for UCHL5 Gene