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Aliases for UCHL5 Gene

Aliases for UCHL5 Gene

  • Ubiquitin C-Terminal Hydrolase L5 2 3 5
  • 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 58
  • UCH-L5 3 4
  • UCH37 3 4
  • Ubiquitin Carboxyl-Terminal Hydrolase Isozyme L5 3
  • Ubiquitin Carboxyl-Terminal Esterase L5 3
  • CGI-70 3
  • INO80R 3

External Ids for UCHL5 Gene

Previous GeneCards Identifiers for UCHL5 Gene

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

Summaries for UCHL5 Gene

GeneCards Summary for UCHL5 Gene

UCHL5 (Ubiquitin C-Terminal Hydrolase L5) is a Protein Coding gene. Among its related pathways are Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer and TGF-beta Signaling Pathway (WikiPathways). GO annotations related to this gene include poly(A) RNA binding and endopeptidase inhibitor activity. An important paralog of this gene is BAP1.

UniProtKB/Swiss-Prot 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

Additional gene information for UCHL5 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UCHL5 Gene

Genomics for UCHL5 Gene

Regulatory Elements for UCHL5 Gene

Enhancers for UCHL5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H193007 0.9 ENCODE 15.3 +52.0 51992 0 FOXA2 ATF1 THRB RARA SCRT2 ATF7 CREM THAP11 KAT8 NFIL3 UCHL5 ENSG00000231767 ZNF101P2 SCARNA18B TROVE2
GH01H193057 1.4 ENCODE dbSUPER 5.5 +0.8 769 4 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D ZNF610 ZNF101P2 ENSG00000231767 B3GALT2 UCHL5 SCARNA18B TROVE2
GH01H193103 1.1 ENCODE 4.6 -44.9 -44946 2 HDGF FOXA2 ARID4B SIN3A DMAP1 YY1 ZNF766 FOS SP3 SP5 ZNF101P2 B3GALT2 UCHL5 GLRX2 ENSG00000272579
GH01H193067 0.9 dbSUPER 5.2 -8.1 -8063 1 HDAC1 ATF1 ARNT TCF12 GATA2 CREM USF2 ZNF592 NFIC ZNF589 CDC73 MIR1278 B3GALT2 UCHL5 ENSG00000272579
GH01H193183 1.1 Ensembl ENCODE 4.2 -126.7 -126700 7 CTCF PKNOX1 MXI1 ATF1 RAD21 RFX5 ZNF316 GATA3 POLR2A ZNF138 CDC73 MIR1278 B3GALT2 UCHL5 ENSG00000276735
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UCHL5 on UCSC Golden Path with GeneCards custom track

Promoters for UCHL5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000017490 607 3001 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D ZNF610

Genomic Location for UCHL5 Gene

Chromosome:
1
Start:
193,012,250 bp from pter
End:
193,060,107 bp from pter
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, posLast=210210, posLast=234234, Lys277, Lys282, and posLast=315315
  • 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

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 CatalyticActivity:
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).
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by ADRM1. Inhibited by interaction with NFRKB.
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.

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 IDA 22658674
GO:0004843 thiol-dependent ubiquitin-specific protease activity IEA,IDA 18922472
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:

Animal Model Products

  • Taconic Biosciences Mouse Models for UCHL5

CRISPR Products

Inhibitory RNA Products

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
mitochondrion 5
nucleus 5
cytosol 5
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UCHL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus IDA,IEA 18922472
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IDA --
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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006508 proteolysis 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

Transcripts for UCHL5 Gene

Unigene Clusters for UCHL5 Gene

Ubiquitin carboxyl-terminal hydrolase L5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
UCHL5

Expression for UCHL5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for UCHL5 Gene



Protein tissue co-expression partners for UCHL5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of UCHL5 Gene:

UCHL5

SOURCE GeneReport for Unigene cluster for UCHL5 Gene:

Hs.145469

Evidence on tissue expression from TISSUES for UCHL5 Gene

  • Liver(4.3)
  • Lung(4.3)
  • Adrenal gland(4.2)
  • Nervous system(3.8)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with UCHL5: view

Primer Products

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 33 34
  • 99.89 (n)
dog
(Canis familiaris)
Mammalia UCHL5 33 34
  • 94.83 (n)
cow
(Bos Taurus)
Mammalia UCHL5 33 34
  • 94.51 (n)
rat
(Rattus norvegicus)
Mammalia Uchl5 33
  • 92.17 (n)
oppossum
(Monodelphis domestica)
Mammalia UCHL5 34
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UCHL5 34
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Uchl5 33 16 34
  • 90.88 (n)
chicken
(Gallus gallus)
Aves UCHL5 33 34
  • 84.82 (n)
lizard
(Anolis carolinensis)
Reptilia UCHL5 34
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia uchl5 33
  • 78.42 (n)
zebrafish
(Danio rerio)
Actinopterygii uchl5 33 34
  • 74.67 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005540 33
  • 59.77 (n)
fruit fly
(Drosophila melanogaster)
Insecta Uch-L3 33 34
  • 59.12 (n)
CG1950 34
  • 47 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ubh-4 33 34
  • 54.69 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons UCH2 33
  • 55.52 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.1514 33
rice
(Oryza sativa)
Liliopsida Os02g0822200 33
  • 56.26 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4974 34
  • 57 (a)
OneToOne
Species where no ortholog for UCHL5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for UCHL5 Gene

Paralogs for UCHL5 Gene

Pseudogenes.org Pseudogenes for UCHL5 Gene

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

Variants for UCHL5 Gene

Sequence variations from dbSNP and Humsavar for UCHL5 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000159985 -- 193,019,515(+) TGGAA(C/T)ATTAA intron-variant, downstream-variant-500B
rs1000277354 -- 193,044,204(+) AATTG(A/G)TTAAT intron-variant, nc-transcript-variant, utr-variant-5-prime
rs1000280996 -- 193,031,489(+) TGTCC(A/G)TGATA intron-variant
rs1000553659 -- 193,055,146(+) CTGCA(C/T)GTCTT intron-variant
rs1000714458 -- 193,048,343(+) ACTGT(C/G)AGCTT intron-variant

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)

Relevant External Links for UCHL5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
UCHL5

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

Disorders for UCHL5 Gene

Relevant External Links for UCHL5

Genetic Association Database (GAD)
UCHL5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UCHL5

No disorders were found for UCHL5 Gene.

No data available for MalaCards , 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 60
  2. The deubiquitinating enzyme UCH37 interacts with Smads and regulates TGF-beta signalling. (PMID: 16027725) Wicks SJ … Chantry A (Oncogene 2005) 2 3 22 60
  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 60
  4. A genome-wide association study of DSM-IV cannabis dependence. (PMID: 21668797) Agrawal A … Bierut LJ (Addiction biology 2011) 3 45 60
  5. 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 60

Products for UCHL5 Gene

  • Addgene plasmids for UCHL5

Sources for UCHL5 Gene

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