Gene Gene information from NCBI Gene database.
Entrez ID 84640
Gene name Ubiquitin specific peptidase 38
Gene symbol USP38
Synonyms (NCBI Gene)
HP43.8KD
Chromosome 4
Chromosome location 4q31.21
miRNA miRNA information provided by mirtarbase database.
161
miRTarBase ID miRNA Experiments Reference
MIRT023119 hsa-miR-124-3p Microarray 18668037
MIRT050808 hsa-miR-17-5p CLASH 23622248
MIRT048041 hsa-miR-148a-3p CLASH 23622248
MIRT553021 hsa-let-7a-5p PAR-CLIP 21572407
MIRT553020 hsa-let-7b-5p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0000082 Process G1/S transition of mitotic cell cycle IDA 25438055
GO:0004843 Function Cysteine-type deubiquitinase activity IBA
GO:0004843 Function Cysteine-type deubiquitinase activity IDA 14715245, 27692986
GO:0004843 Function Cysteine-type deubiquitinase activity IEA
GO:0005515 Function Protein binding IPI 32814053
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618322 20067 ENSG00000170185
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NB14
Protein name Ubiquitin carboxyl-terminal hydrolase 38 (EC 3.4.19.12) (Deubiquitinating enzyme 38) (HP43.8KD) (Ubiquitin thioesterase 38) (Ubiquitin-specific-processing protease 38)
Protein function Deubiquitinating enzyme that plays a role in various cellular processes, including DNA repair, cell cycle regulation, and immune response (PubMed:22689415, PubMed:30497519, PubMed:31874856, PubMed:35238669). Plays a role in the inhibition of typ
PDB 4RXX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00443 UCH 445 946 Ubiquitin carboxyl-terminal hydrolase Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in skeletal muscle. Expressed in adrenal gland. {ECO:0000269|PubMed:11572484, ECO:0000269|PubMed:14715245}.
Sequence
MDKILEGLVSSSHPLPLKRVIVRKVVESAEHWLDEAQCEAMFDLTTRLILEGQDPFQRQV
GHQVLEAYARYHRPEFESFFNKTFVLGLLHQGYHSLDRKDVAILDYIHNGLKLIMSCPSV
LDLFSLLQVEVLRMVCERPEPQLCARLSDLLTDFVQCIPKGKLSITFCQQLVRTIGHFQC
VSTQERELREYVSQVTKVSNLLQNIWKAEPATLLPSLQEVFASISSTDASFEPSVALASL
VQHIPLQMITVLIRSLTTDPNVKDASMTQALCRMIDWLSWPLAQHVDTWVIALLKGLAAV
QKFTILIDVTLLKIELVFNRLWFPLVRPGALAVLSHMLLSFQHSPEAFHLIVPHVVNLVH
SFKNDGLPSSTAFLVQLTELIHCMMYHYSGFPDLYEPILEAIKDFPKPSEEKIKLILNQS
AWTSQSNSLASCLSRLSGKSETGKTGLINLGNTCYMNSVIQALFMATDFRRQVLSLNLNG
CNSLMKKLQHLFAFLAHTQREAYAPRIFFEASRPPWFTPRSQQDCSEYLRFLLDRLHEEE
KILKVQASHKPSEILECSETSLQEVASKAAVLTETPRTSDGEKTLIEKMFGGKLRTHIRC
LNCRSTSQKVEAFTDLSLAFCPSSSLENMSVQDPASSPSIQDGGLMQASVPGPSEEPVVY
NPTTAAFICDSLVNEKTIGSPPNEFYCSENTSVPNESNKILVNKDVPQKPGGETTPSVTD
LLNYFLAPEILTGDNQYYCENCASLQNAEKTMQITEEPEYLILTLLRFSYDQKYHVRRKI
LDNVSLPLVLELPVKRITSFSSLSESWSVDVDFTDLSENLAKKLKPSGTDEASCTKLVPY
LLSSVVVHSGISSESGHYYSYARNITSTDSSYQMYHQSEALALASSQSHLLGRDSPSAVF
EQDLENKEMSKEWFLFNDSRVTFTSFQSVQKITSRFPKDTAYVLLY
KKQHSTNGLSGNNP
TSGLWINGDPPLQKELMDAITKDNKLYLQEQELNARARALQAASASCSFRPNGFDDNDPP
GSCGPTGGGGGGGFNTVGRLVF
Sequence length 1042
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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
CARDIOVASCULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEART FAILURE 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
alpha Thalassemia Alpha thalassemia Pubtator 25805752 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 21804548 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 30224386
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 22961600
★☆☆☆☆
Found in Text Mining only
Ciliopathies Ciliopathies BEFREE 31723061
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 36204976 Associate
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 35114776 Inhibit
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 22961600
★☆☆☆☆
Found in Text Mining only
Pulmonary Fibrosis Pulmonary fibrosis Pubtator 35238669 Associate
★☆☆☆☆
Found in Text Mining only
Urinary Bladder Neoplasms Urinary bladder neoplasms Pubtator 36288387 Associate
★☆☆☆☆
Found in Text Mining only