Gene Gene information from NCBI Gene database.
Entrez ID 84101
Gene name Ubiquitin specific peptidase 44
Gene symbol USP44
Synonyms (NCBI Gene)
-
Chromosome 12
Chromosome location 12q22
Summary The protein encoded by this gene is a protease that functions as a deubiquitinating enzyme. The encoded protein is thought to help regulate the spindle assembly checkpoint by preventing early anaphase onset. This protein specifically deubiquitinates CDC20
miRNA miRNA information provided by mirtarbase database.
118
miRTarBase ID miRNA Experiments Reference
MIRT017223 hsa-miR-335-5p Microarray 18185580
MIRT533307 hsa-miR-1276 PAR-CLIP 22012620
MIRT533306 hsa-miR-6835-3p PAR-CLIP 22012620
MIRT533304 hsa-miR-4422 PAR-CLIP 22012620
MIRT533305 hsa-miR-4275 PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISS 33937266
GO:0002376 Process Immune system process IEA
GO:0004843 Function Cysteine-type deubiquitinase activity IDA 14715245, 17443180, 20402667
GO:0004843 Function Cysteine-type deubiquitinase activity IEA
GO:0004843 Function Cysteine-type deubiquitinase activity IMP 17443180, 20402667
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610993 20064 ENSG00000136014
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H0E7
Protein name Ubiquitin carboxyl-terminal hydrolase 44 (EC 3.4.19.12) (Deubiquitinating enzyme 44) (Ubiquitin thioesterase 44) (Ubiquitin-specific-processing protease 44)
Protein function Deubiquitinase that plays a key regulatory role in the spindle assembly checkpoint or mitotic checkpoint by preventing premature anaphase onset. Acts by specifically mediating deubiquitination of CDC20, a negative regulator of the anaphase promo
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02148 zf-UBP 29 91 Zn-finger in ubiquitin-hydrolases and other protein Domain
PF00443 UCH 273 675 Ubiquitin carboxyl-terminal hydrolase Family
Tissue specificity TISSUE SPECIFICITY: Expressed in testis. Expressed at high levels in T-cell acute lymphoblastic leukemia. {ECO:0000269|PubMed:14715245, ECO:0000269|PubMed:21853124}.
Sequence
Sequence length 712
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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
7
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Moderate intellectual disability Uncertain significance rs2077088044 RCV001089806
USP44-related disorder Likely benign; Benign rs377219944, rs550452419, rs145220201, rs761232870, rs147287763, rs61733460 RCV003952131
RCV003949797
RCV003954403
RCV003969140
RCV003964249
RCV003968078
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenoma Associate 24837038
Adenoma Inhibit 24837038
Aneuploidy Associate 24837038
Aneuploidy Stimulate 28544703
Breast Neoplasms Associate 27880911
Carcinogenesis Associate 28492742, 30622230
Carcinogenesis Inhibit 35079021
Carcinoma Hepatocellular Associate 37204480, 38097536
Carcinoma Non Small Cell Lung Associate 31197957
Carcinoma Renal Cell Associate 32164618, 32633782