Gene Gene information from NCBI Gene database.
Entrez ID 9097
Gene name Ubiquitin specific peptidase 14
Gene symbol USP14
Synonyms (NCBI Gene)
TGTUbp6
Chromosome 18
Chromosome location 18p11.32
Summary This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused prec
miRNA miRNA information provided by mirtarbase database.
540
miRTarBase ID miRNA Experiments Reference
MIRT024696 hsa-miR-215-5p Microarray 19074876
MIRT026381 hsa-miR-192-5p Microarray 19074876
MIRT029168 hsa-miR-26b-5p Microarray 19088304
MIRT052527 hsa-let-7a-5p CLASH 23622248
MIRT052341 hsa-let-7b-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
42
GO ID Ontology Definition Evidence Reference
GO:0000502 Component Proteasome complex IEA
GO:0002376 Process Immune system process IEA
GO:0004197 Function Cysteine-type endopeptidase activity TAS 9827704
GO:0004843 Function Cysteine-type deubiquitinase activity IBA
GO:0004843 Function Cysteine-type deubiquitinase activity IDA 19106094, 23958854
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607274 12612 ENSG00000101557
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P54578
Protein name Ubiquitin carboxyl-terminal hydrolase 14 (EC 3.4.19.12) (Deubiquitinating enzyme 14) (Ubiquitin thioesterase 14) (Ubiquitin-specific-processing protease 14)
Protein function Proteasome-associated deubiquitinase which releases ubiquitin from the proteasome targeted ubiquitinated proteins (PubMed:35145029). Ensures the regeneration of ubiquitin at the proteasome (PubMed:18162577, PubMed:28396413). Is a reversibly asso
PDB 2AYN , 2AYO , 5GJQ , 6IIK , 6IIL , 6IIM , 6IIN , 6LVS , 7W37 , 7W38 , 7W39 , 7W3A , 7W3B , 7W3C , 7W3F , 7W3G , 7W3H , 7W3I , 7W3J , 7W3K , 7W3M
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00443 UCH 105 480 Ubiquitin carboxyl-terminal hydrolase Family
Sequence
Sequence length 494
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Ub-specific processing proteases
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Distal arthrogryposis and CNS involvement Pathogenic rs2144233064 RCV001823201
★★★★☆
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
Colon adenocarcinoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY 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
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 23702845, 30527624
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 30550885
★☆☆☆☆
Found in Text Mining only
Aneuploidy Aneuploidy Pubtator 20850176 Associate
★☆☆☆☆
Found in Text Mining only
Aortic Valve Stenosis Aortic valve stenosis Pubtator 32471496 Stimulate
★☆☆☆☆
Found in Text Mining only
Ataxia Ataxia Pubtator 14559899 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 26712154, 29326710, 29353883, 29748526, 31126320, 31474315
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 29353883, 36604147 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 30296012, 31653087, 36693850, 37401238 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 11940046
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 15767331, 23702845, 29702194, 31653087
★☆☆☆☆
Found in Text Mining only