Gene Gene information from NCBI Gene database.
Entrez ID 55230
Gene name Ubiquitin specific peptidase 40
Gene symbol USP40
Synonyms (NCBI Gene)
-
Chromosome 2
Chromosome location 2q37.1
Summary Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP40 belongs to a large family of cysteine proteases that function as
miRNA miRNA information provided by mirtarbase database.
410
miRTarBase ID miRNA Experiments Reference
MIRT041968 hsa-miR-484 CLASH 23622248
MIRT1479607 hsa-miR-105 CLIP-seq
MIRT739961 hsa-miR-10a CLIP-seq
MIRT739962 hsa-miR-10b CLIP-seq
MIRT1479608 hsa-miR-1207-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0004843 Function Cysteine-type deubiquitinase activity IBA
GO:0004843 Function Cysteine-type deubiquitinase activity IEA
GO:0005634 Component Nucleus IBA
GO:0005829 Component Cytosol IBA
GO:0006508 Process Proteolysis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610570 20069 ENSG00000085982
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NVE5
Protein name Ubiquitin carboxyl-terminal hydrolase 40 (EC 3.4.19.12) (Deubiquitinating enzyme 40) (Ubiquitin thioesterase 40) (Ubiquitin-specific-processing protease 40)
Protein function May be catalytically inactive.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00443 UCH 41 341 Ubiquitin carboxyl-terminal hydrolase Family
Tissue specificity TISSUE SPECIFICITY: Broadly expressed. {ECO:0000269|PubMed:14715245}.
Sequence
MFGDLFEEEYSTVSNNQYGKGKKLKTKALEPPAPREFTNLSGIRNQGGTCYLNSLLQTLH
FTPEFREALFSLGPEELGLFEDKDKPDAKVRIIPLQLQRLFAQLLLLDQEAASTADLTDS
FGWTSNEEMRQHDVQELNRILFSALETSLVGTSGHDLIYRLYHGTIVNQIVCKECKNVSE
RQEDFLDLTVAVKNVSGLEDALWNMYVEEEVFDCDNLYHCGTCDRLVKAAKSAKLRKLPP
FLTVSLLRFNFDFVKCERYKETSCYTFPLRINLKPFCEQSELDDLEYIYDLFSVIIHKGG
CYGGHYHVYIKDVDHLGNWQFQEEKSKPDVNLKDLQSEEEI
DHPLMILKAILLEENNLIP
VDQLGQKLLKKIGISWNKKYRKQHGPLRKFLQLHSQIFLLSSDESTVRLLKNSSLQAESD
FQRNDQQIFKMLPPESPGLNNSISCPHWFDINDSKVQPIREKDIEQQFQGKESAYMLFYR
KSQLQRPPEARANPRYGVPCHLLNEMDAANIELQTKRAECDSANNTFELHLHLGPQYHFF
NGALHPVVSQTESVWDLTFDKRKTLGDLRQSIFQLLEFWEGDMVLSVAKLVPAGLHIYQS
LGGDELTLCETEIADGEDIFVWNGVEVGGVHIQTGIDCEPLLLNVLHLDTSSDGEKCCQV
IESPHVFPANAEVGTVLTALAIPAGVIFINSAGCPGGEGWTAIPKEDMRKTFREQGLRNG
SSILIQDSHDDNSLLTKEEKWVTSMNEIDWLHVKNLCQLESEEKQVKISATVNTMVFDIR
IKAIKELKLMKELADNSCLRPIDRNGKLLCPVPDSYTLKEAELKMGSSLGLCLGKAPSSS
QLFLFFAMGSDVQPGTEMEIVVEETISVRDCLKLMLKKSGLQGDAWHLRKMDWCYEAGEP
LCEEDATLKELLICSGDTLLLIEGQLPPLGFLKVPIWWYQLQGPSGHWESHQDQTNCTSS
WGRVWRATSSQGASGNEPAQVSLLYLGDIEISEDATLAELKSQAMTLPPFLEFGVPSPAH
LRAWTVERKRPGRLLRTDRQPLREYKLGRRIEICLEPLQKGENLGPQDVLLRTQVRIPGE
RTYAPALDLVWNAAQGGTAGSLRQRVADFYRLPVEKIEIAKYFPEKFEWLPISSWNQQIT
KRKKKKKQDYLQGAPYYLKDGDTIGVKNLLIDDDDDFSTIRDDTGKEKQKQRALGRRKSQ
EALHEQSSYILSSAETPARPRAPETSLSIHVGSFR
Sequence length 1235
Interactions View interactions
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
SCOLIOSIS 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
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 38308285 Associate
★☆☆☆☆
Found in Text Mining only
Parkinson Disease Parkinson disease LHGDN 16917932
★☆☆☆☆
Found in Text Mining only
Parkinson Disease Parkinson disease BEFREE 20302855, 22923019
★☆☆☆☆
Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET Parkinson disease BEFREE 16917932
★☆☆☆☆
Found in Text Mining only