Gene Gene information from NCBI Gene database.
Entrez ID 7347
Gene name Ubiquitin C-terminal hydrolase L3
Gene symbol UCHL3
Synonyms (NCBI Gene)
UCH-L3
Chromosome 13
Chromosome location 13q22.2
Summary 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. T
miRNA miRNA information provided by mirtarbase database.
118
miRTarBase ID miRNA Experiments Reference
MIRT019702 hsa-miR-375 Microarray 20215506
MIRT047087 hsa-miR-183-5p CLASH 23622248
MIRT709706 hsa-miR-606 HITS-CLIP 19536157
MIRT709706 hsa-miR-606 HITS-CLIP 19536157
MIRT717174 hsa-miR-532-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0004843 Function Cysteine-type deubiquitinase activity EXP 26235645
GO:0004843 Function Cysteine-type deubiquitinase activity IBA
GO:0004843 Function Cysteine-type deubiquitinase activity IDA 9521656, 19047059
GO:0004843 Function Cysteine-type deubiquitinase activity IEA
GO:0004843 Function Cysteine-type deubiquitinase activity TAS 2530630
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603090 12515 ENSG00000118939
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P15374
Protein name Ubiquitin carboxyl-terminal hydrolase isozyme L3 (UCH-L3) (EC 3.4.19.12) (Ubiquitin thioesterase L3)
Protein 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 ubiq
PDB 1UCH , 1XD3 , 6ISU , 6QML , 7YV4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01088 Peptidase_C12 6 214 Ubiquitin carboxyl-terminal hydrolase, family 1 Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in heart, skeletal muscle, and testis. {ECO:0000269|PubMed:9790970}.
Sequence
Sequence length 230
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    UCH proteinases
Synthesis of active ubiquitin: roles of E1 and E2 enzymes
Neddylation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
DIABETIC RETINOPATHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Ataxia, Spinocerebellar Spinocerebellar Ataxia BEFREE 29898404
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar disorder Pubtator 39600279 Inhibit
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 27941124
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 16734731, 27941124, 35053210 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 32546741, 36813921 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 32486284 Stimulate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 31477831
★☆☆☆☆
Found in Text Mining only
Chordoma Chordoma Pubtator 24503940 Associate
★☆☆☆☆
Found in Text Mining only
Diabetic Retinopathy Diabetic Retinopathy GWASDB_DG 23562823
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Diabetic Retinopathy Diabetic retinopathy Pubtator 23562823 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations