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Aliases for UCHL3 Gene

Aliases for UCHL3 Gene

  • Ubiquitin C-Terminal Hydrolase L3 2 3 5
  • Ubiquitin Carboxyl-Terminal Esterase L3 (Ubiquitin Thiolesterase) 2 3
  • Ubiquitin Thioesterase L3 3 4
  • Ubiquitin Thiolesterase 2 3
  • UCH-L3 3 4
  • Ubiquitin Carboxyl-Terminal Hydrolase Isozyme L3 3
  • Testicular Tissue Protein Li 221 3
  • EC 3.4.19.12 4

External Ids for UCHL3 Gene

Previous GeneCards Identifiers for UCHL3 Gene

  • GC13P074091
  • GC13P070118
  • GC13P075060
  • GC13P073921
  • GC13P075021
  • GC13P076123
  • GC13P056821

Summaries for UCHL3 Gene

Entrez Gene Summary for UCHL3 Gene

  • The protein encoded by this gene is a member of the deubiquitinating enzyme family. Members of this family are proteases that catalyze the removal of ubiquitin from polypeptides and are divided into five classes, depending on the mechanism of catalysis. This protein may hydrolyze the ubiquitinyl-N-epsilon amide bond of ubiquitinated proteins to regenerate ubiquitin for another catalytic cycle. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]

GeneCards Summary for UCHL3 Gene

UCHL3 (Ubiquitin C-Terminal Hydrolase L3) is a Protein Coding gene. Diseases associated with UCHL3 include Colonic Benign Neoplasm. Among its related pathways are Protein ubiquitination and Metabolism of proteins. GO annotations related to this gene include peptidase activity and ubiquitin binding. An important paralog of this gene is UCHL1.

UniProtKB/Swiss-Prot for UCHL3 Gene

  • Deubiquitinating enzyme (DUB) that controls levels of cellular ubiquitin through processing of ubiquitin precursors and ubiquitinated proteins. Thiol protease that recognizes and hydrolyzes a peptide bond at the C-terminal glycine of either ubiquitin or NEDD8. Has a 10-fold preference for Arg and Lys at position P3", and exhibits a preference towards Lys-48-linked Ubiquitin chains. Deubiquitinates ENAC in apical compartments, thereby regulating apical membrane recycling. Indirectly increases the phosphorylation of IGFIR, AKT and FOXO1 and promotes insulin-signaling and insulin-induced adipogenesis. Required for stress-response retinal, skeletal muscle and germ cell maintenance. May be involved in working memory. Can hydrolyze UBB(+1), a mutated form of ubiquitin which is not effectively degraded by the proteasome and is associated with neurogenerative disorders.

Gene Wiki entry for UCHL3 Gene

Additional gene information for UCHL3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UCHL3 Gene

Genomics for UCHL3 Gene

Regulatory Elements for UCHL3 Gene

Enhancers for UCHL3 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
GH13H075480 1.4 ENCODE dbSUPER 12.1 -67.6 -67593 4 HDGF ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF416 ZNF143 ZNF207 COMMD6 LINC00347 UCHL3 ENSG00000228444 TBC1D4 LMO7-AS1 ENSG00000225203
GH13H075548 1.1 ENCODE 13 +1.0 1006 2 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 ZNF207 ZNF143 COMMD6 UCHL3 LMO7-AS1 ENSG00000261553 GC13M075563
GH13H075489 1.1 Ensembl ENCODE 12.4 -59.0 -58967 1 HDGF PKNOX1 FOXA2 TBL1XR1 RAD21 ZNF366 ATF7 RUNX3 IKZF2 EGR2 COMMD6 UCHL3 TBC1D4 PIR51840
GH13H075634 1.2 ENCODE dbSUPER 10.7 +87.6 87620 3 ARID4B DMAP1 GLI4 ZNF2 GLIS2 ZNF202 SP3 SP5 MXD4 KAT8 LMO7-AS1 COMMD6 UCHL3 GC13P075644
GH13H075632 1.1 ENCODE dbSUPER 10.7 +84.7 84672 1 FOXA2 ARID4B DMAP1 ZSCAN9 RARA ZNF121 CREM MIXL1 THAP11 KLF11 LMO7-AS1 COMMD6 UCHL3 ENSG00000228444
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UCHL3 on UCSC Golden Path with GeneCards custom track

Promoters for UCHL3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000063827 1033 1401 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 ZNF143 ZNF207

Genomic Location for UCHL3 Gene

Chromosome:
13
Start:
75,548,867 bp from pter
End:
75,606,020 bp from pter
Size:
57,154 bases
Orientation:
Plus strand

Genomic View for UCHL3 Gene

Genes around UCHL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UCHL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UCHL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UCHL3 Gene

Proteins for UCHL3 Gene

  • Protein details for UCHL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15374-UCHL3_HUMAN
    Recommended name:
    Ubiquitin carboxyl-terminal hydrolase isozyme L3
    Protein Accession:
    P15374
    Secondary Accessions:
    • B2R970
    • Q5TBK8
    • Q6IBE9

    Protein attributes for UCHL3 Gene

    Size:
    230 amino acids
    Molecular mass:
    26183 Da
    Quaternary structure:
    • Preferentially binds diubiquitin; the interaction does not hydrolyze diubiquitin but, in vitro, inhibits the hydrolyzing activity on other substrates.
    Miscellaneous:
    • Identified as a tumor-specific antigen in colon cancer.

    Three dimensional structures from OCA and Proteopedia for UCHL3 Gene

neXtProt entry for UCHL3 Gene

Post-translational modifications for UCHL3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for UCHL3 (UCHL3)
  • Abcam antibodies for UCHL3

Protein Products

  • Abcam proteins for UCHL3

No data available for DME Specific Peptides for UCHL3 Gene

Domains & Families for UCHL3 Gene

Gene Families for UCHL3 Gene

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

Protein Domains for UCHL3 Gene

Suggested Antigen Peptide Sequences for UCHL3 Gene

Graphical View of Domain Structure for InterPro Entry

P15374

UniProtKB/Swiss-Prot:

UCHL3_HUMAN :
  • Belongs to the peptidase C12 family.
Family:
  • Belongs to the peptidase C12 family.
genes like me logo Genes that share domains with UCHL3: view

Function for UCHL3 Gene

Molecular function for UCHL3 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:
Inhibited by monoubiquitin and diubiquitin.
UniProtKB/Swiss-Prot Function:
Deubiquitinating enzyme (DUB) that controls levels of cellular ubiquitin through processing of ubiquitin precursors and ubiquitinated proteins. Thiol protease that recognizes and hydrolyzes a peptide bond at the C-terminal glycine of either ubiquitin or NEDD8. Has a 10-fold preference for Arg and Lys at position P3", and exhibits a preference towards Lys-48-linked Ubiquitin chains. Deubiquitinates ENAC in apical compartments, thereby regulating apical membrane recycling. Indirectly increases the phosphorylation of IGFIR, AKT and FOXO1 and promotes insulin-signaling and insulin-induced adipogenesis. Required for stress-response retinal, skeletal muscle and germ cell maintenance. May be involved in working memory. Can hydrolyze UBB(+1), a mutated form of ubiquitin which is not effectively degraded by the proteasome and is associated with neurogenerative disorders.

Enzyme Numbers (IUBMB) for UCHL3 Gene

Phenotypes From GWAS Catalog for UCHL3 Gene

Gene Ontology (GO) - Molecular Function for UCHL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004843 thiol-dependent ubiquitin-specific protease activity IBA --
GO:0005515 protein binding IPI 21453705
GO:0008233 peptidase activity IEA,IDA 21762696
GO:0008234 cysteine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with UCHL3: view
genes like me logo Genes that share phenotypes with UCHL3: view

Animal Models for UCHL3 Gene

MGI Knock Outs for UCHL3:

Animal Model Products

  • Taconic Biosciences Mouse Models for UCHL3

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for UCHL3
  • Applied Biological Materials Clones for UCHL3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for UCHL3 Gene

Localization for UCHL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UCHL3 Gene

Cytoplasm.

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 UCHL3 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
mitochondrion 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UCHL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with UCHL3: view

Pathways & Interactions for UCHL3 Gene

genes like me logo Genes that share pathways with UCHL3: view

Pathways by source for UCHL3 Gene

1 Cell Signaling Technology pathway for UCHL3 Gene
1 BioSystems pathway for UCHL3 Gene

Gene Ontology (GO) - Biological Process for UCHL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006511 ubiquitin-dependent protein catabolic process IEA --
GO:0016567 protein ubiquitination TAS --
GO:0016579 protein deubiquitination TAS,IBA --
GO:0030163 protein catabolic process IDA 21762696
genes like me logo Genes that share ontologies with UCHL3: view

No data available for SIGNOR curated interactions for UCHL3 Gene

Drugs & Compounds for UCHL3 Gene

(4) Drugs for UCHL3 Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
LDN 57444 Pharma UCH-L1 inhibitor,reversible competitve, Ubiquitin C-terminal hydrolase-L1 (UCH-L1) inhibitor 0
TCID Pharma 0
WP1130 Pharma Deubiquitinase (DUB) inhibitor, Cell permeable 0

(3) ApexBio Compounds for UCHL3 Gene

Compound Action Cas Number
LDN 57444 UCH-L1 inhibitor,reversible competitve 668467-91-2
TCID 30675-13-9
WP1130 Deubiquitinase (DUB) inhibitor, Cell permeable 856243-80-6
genes like me logo Genes that share compounds with UCHL3: view

Drug Products

Transcripts for UCHL3 Gene

Unigene Clusters for UCHL3 Gene

Ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for UCHL3
  • Applied Biological Materials Clones for UCHL3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for UCHL3 Gene

No ASD Table

Relevant External Links for UCHL3 Gene

GeneLoc Exon Structure for
UCHL3
ECgene alternative splicing isoforms for
UCHL3

Expression for UCHL3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UCHL3 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for UCHL3 Gene



Protein tissue co-expression partners for UCHL3 Gene

NURSA nuclear receptor signaling pathways regulating expression of UCHL3 Gene:

UCHL3

SOURCE GeneReport for Unigene cluster for UCHL3 Gene:

Hs.162241

mRNA Expression by UniProt/SwissProt for UCHL3 Gene:

P15374-UCHL3_HUMAN
Tissue specificity: Highly expressed in heart, skeletal muscle, and testis.

Evidence on tissue expression from TISSUES for UCHL3 Gene

  • Lung(4.3)
  • Nervous system(4.3)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with UCHL3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for UCHL3 Gene

Orthologs for UCHL3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UCHL3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UCHL3 33 34
  • 100 (n)
dog
(Canis familiaris)
Mammalia UCHL3 33 34
  • 95.65 (n)
cow
(Bos Taurus)
Mammalia UCHL3 33 34
  • 94.93 (n)
mouse
(Mus musculus)
Mammalia Uchl4 34
  • 94 (a)
OneToMany
Uchl3 33 16 34
  • 90.43 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia UCHL3 34
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Uchl3 33
  • 88.7 (n)
oppossum
(Monodelphis domestica)
Mammalia UCHL3 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves UCHL3 33 34
  • 82.9 (n)
lizard
(Anolis carolinensis)
Reptilia UCHL3 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia uchl3 33
  • 74.93 (n)
zebrafish
(Danio rerio)
Actinopterygii uchl3 33 34
  • 68.41 (n)
Dr.16889 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3304 33
fruit fly
(Drosophila melanogaster)
Insecta Uch 35 33 34
  • 55.11 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012113 33
  • 50.68 (n)
worm
(Caenorhabditis elegans)
Secernentea ubh-1 34
  • 41 (a)
ManyToMany
F46E10.8 35
  • 40 (a)
ubh-3 34
  • 37 (a)
ManyToMany
ubh-2 34
  • 31 (a)
ManyToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E09967g 33
  • 51.36 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL314C 33
  • 49.59 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YUH1 33 34 36
  • 49.33 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons UCH3 33
  • 55.91 (n)
soybean
(Glycine max)
eudicotyledons Gma.11207 33
rice
(Oryza sativa)
Liliopsida Os02g0654500 33
  • 52.82 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.6337 33
bread mold
(Neurospora crassa)
Ascomycetes NCU06372 33
  • 45.93 (n)
Species where no ortholog for UCHL3 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for UCHL3 Gene

ENSEMBL:
Gene Tree for UCHL3 (if available)
TreeFam:
Gene Tree for UCHL3 (if available)

Paralogs for UCHL3 Gene

Paralogs for UCHL3 Gene

(1) SIMAP similar genes for UCHL3 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with UCHL3: view

Variants for UCHL3 Gene

Sequence variations from dbSNP and Humsavar for UCHL3 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs1000103111 -- 75,548,287(+) TGAGT(A/G)TAGCA intron-variant, upstream-variant-2KB
rs1000119271 -- 75,603,793(+) TTACA(G/T)GAAAA intron-variant
rs1000164377 -- 75,580,474(+) TTCAA(A/G)GCATT intron-variant
rs1000222821 -- 75,561,791(+) TGTGT(A/G)TATAT intron-variant
rs1000247791 -- 75,569,170(+) GTGTT(A/G)GTTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for UCHL3 Gene

Variant ID Type Subtype PubMed ID
esv2747671 CNV deletion 23290073
esv2747672 CNV deletion 23290073
esv2747673 CNV deletion 23290073
esv2751152 CNV loss 17911159
esv2761803 CNV gain 21179565
esv3302852 CNV tandem duplication 20981092
nsv1090 CNV insertion 18451855
nsv521444 CNV gain 19592680
nsv562347 CNV loss 21841781
nsv983604 CNV duplication 23825009

Variation tolerance for UCHL3 Gene

Residual Variation Intolerance Score: 32.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.63; 13.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UCHL3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
UCHL3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UCHL3 Gene

Disorders for UCHL3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for UCHL3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
colonic benign neoplasm
  • colon neoplasm
- elite association - COSMIC cancer census association via MalaCards
Search UCHL3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for UCHL3

Genetic Association Database (GAD)
UCHL3
Human Genome Epidemiology (HuGE) Navigator
UCHL3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UCHL3
genes like me logo Genes that share disorders with UCHL3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UCHL3 Gene

Publications for UCHL3 Gene

  1. Molecular profiling of the immune response in colon cancer using protein microarrays: occurrence of autoantibodies to ubiquitin C-terminal hydrolase L3. (PMID: 14595809) Nam MJ … Hanash SM (Proteomics 2003) 3 4 22 60
  2. Cleavage of the C-terminus of NEDD8 by UCH-L3. (PMID: 9790970) Wada H … Kamitani T (Biochemical and biophysical research communications 1998) 3 4 22 60
  3. Crystal structure of a deubiquitinating enzyme (human UCH-L3) at 1.8 A resolution. (PMID: 9233788) Johnston SC … Hill CP (The EMBO journal 1997) 3 4 22 60
  4. The neuron-specific protein PGP 9.5 is a ubiquitin carboxyl-terminal hydrolase. (PMID: 2530630) Wilkinson KD … Pohl J (Science (New York, N.Y.) 1989) 2 3 4 60
  5. Mutant ubiquitin (UBB+1) associated with neurodegenerative disorders is hydrolyzed by ubiquitin C-terminal hydrolase L3 (UCH-L3). (PMID: 21762696) Dennissen FJ … van Leeuwen FW (FEBS letters 2011) 3 4 60

Products for UCHL3 Gene

  • Addgene plasmids for UCHL3

Sources for UCHL3 Gene

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