Gene Gene information from NCBI Gene database.
Entrez ID 27005
Gene name Ubiquitin specific peptidase 21
Gene symbol USP21
Synonyms (NCBI Gene)
USP16USP23
Chromosome 1
Chromosome location 1q23.3
Summary This gene encodes a member of the C19 peptidase family, also known as family 2 of ubiquitin carboxy-terminal hydrolases. The encoded protein cleaves ubiquitin from ubiquitinated proteins for recycling in intracellular protein degradation. The encoded prot
miRNA miRNA information provided by mirtarbase database.
135
miRTarBase ID miRNA Experiments Reference
MIRT028020 hsa-miR-93-5p Sequencing 20371350
MIRT028308 hsa-miR-32-5p Sequencing 20371350
MIRT043379 hsa-miR-331-3p CLASH 23622248
MIRT039291 hsa-miR-671-5p CLASH 23622248
MIRT037440 hsa-miR-744-5p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
FOXP3 Activation 23395819
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0003713 Function Transcription coactivator activity ISS
GO:0004843 Function Cysteine-type deubiquitinase activity IDA 10799498, 32011234
GO:0004843 Function Cysteine-type deubiquitinase activity IEA
GO:0004843 Function Cysteine-type deubiquitinase activity IMP 26100909
GO:0004843 Function Cysteine-type deubiquitinase activity ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604729 12620 ENSG00000143258
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UK80
Protein name Ubiquitin carboxyl-terminal hydrolase 21 (EC 3.4.19.12) (Deubiquitinating enzyme 21) (Ubiquitin thioesterase 21) (Ubiquitin-specific-processing protease 21)
Protein function Deubiquitinates histone H2A, a specific tag for epigenetic transcriptional repression, thereby acting as a coactivator (By similarity). Deubiquitination of histone H2A releaves the repression of di- and trimethylation of histone H3 at 'Lys-4', r
PDB 2Y5B , 3I3T , 3MTN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00443 UCH 212 555 Ubiquitin carboxyl-terminal hydrolase Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in heart, pancreas and skeletal muscle. Also expressed in brain, placenta, liver and kidney, and at very low level in lung. {ECO:0000269|PubMed:10799498}.
Sequence
Sequence length 565
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Necroptosis   TNFR1-induced proapoptotic signaling
Regulation of TNFR1 signaling
TNFR1-induced NFkappaB signaling pathway
Ub-specific processing proteases
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
Acute myeloid leukemia Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
VARIEGATE PORPHYRIA Disgenet
★★☆☆☆
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
Anemia Hemolytic Hemolytic anemia Pubtator 26466379 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 29179215 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 31294790 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 31294790
★☆☆☆☆
Found in Text Mining only
Down Syndrome Down Syndrome BEFREE 24025767, 30504774
★☆☆☆☆
Found in Text Mining only
Down Syndrome Down syndrome Pubtator 25305019 Associate
★☆☆☆☆
Found in Text Mining only
Fanconi Anemia Fanconi Anemia BEFREE 26466379
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 36197973 Associate
★☆☆☆☆
Found in Text Mining only
Inflammatory Bowel Diseases Inflammatory Bowel Disease BEFREE 31135381
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 27633997
★☆☆☆☆
Found in Text Mining only