USP48 (ubiquitin specific peptidase 48)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 84196
Gene name Ubiquitin specific peptidase 48
Gene symbol USP48
Synonyms (NCBI Gene)
DFNA85RAP1GA1USP31
Chromosome 1
Chromosome location 1p36.12
Summary This gene encodes a protein containing domains that associate it with the peptidase family C19, also known as family 2 of ubiquitin carboxyl-terminal hydrolases. Family members function as deubiquitinating enzymes, recognizing and hydrolyzing the peptide
miRNA miRNA information provided by mirtarbase database.
301
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (301)
miRTarBase ID miRNA Experiments Reference
MIRT002595 hsa-miR-124-3p Microarray 15685193
MIRT019401 hsa-miR-148b-3p Microarray 17612493
MIRT002595 hsa-miR-124-3p Microarray;Other 15685193
MIRT553032 hsa-miR-3609 HITS-CLIP 21572407
MIRT553033 hsa-miR-548ah-5p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (22)
GO ID Ontology Definition Evidence Reference
GO:0004197 Function Cysteine-type endopeptidase activity IEA
GO:0004843 Function Cysteine-type deubiquitinase activity IBA
GO:0004843 Function Cysteine-type deubiquitinase activity IEA
GO:0005515 Function Protein binding IPI 32814053
GO:0005634 Component Nucleus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
617445 18533 ENSG00000090686
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86UV5
Protein name Ubiquitin carboxyl-terminal hydrolase 48 (EC 3.4.19.12) (Deubiquitinating enzyme 48) (Ubiquitin thioesterase 48) (Ubiquitin-specific peptidase 48) (Ubiquitin-specific protease 48) (Ubiquitin-specific-processing protease 48)
Protein function Deubiquitinase that recognizes and hydrolyzes the peptide bond at the C-terminal Gly of ubiquitin. Involved in the processing of polyubiquitin precursors as well as that of ubiquitinated proteins (PubMed:16214042, PubMed:34059922). Plays a role
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00443 UCH 89 → 418 Ubiquitin carboxyl-terminal hydrolase Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Expressed in the fetal inner ear (PubMed:34059922). {ECO:0000269|PubMed:14715245, ECO:0000269|PubMed:15354349, ECO:0000269|PubMed:16214042, ECO:0000269|PubMed:34059922}.
Sequence 
MAPRLQLEKAAWRWAETVRPEEVSQEHIETAYRIWLEPCIRGVCRRNCKGNPNCLVGIGE
HIWLGEIDENSFHNIDDPNCERRKKNSFVGLTNLGATCYVNTFLQVWFLNLELRQALYLC
PSTCSDYMLGDGIQEEKDYEPQTICEHLQYLFALLQNSNRRYIDPSGFVKALGLDTGQQQ
DAQEFSKLFMSLLEDTLSKQKNPDVRNIVQQQFCGEYAYVTVCNQCGRESKLLSKFYELE
LNIQGHKQLTDCISEFLKEEKLEGDNRYFCENCQSKQNATRKIRLLSLPCTLNLQLMRFV
FDRQTGHKKKLNTYIGFSEILDMEPYVEHKGGSYVYELSAVLIHRGVSAYSGHYIAHVKD
PQSGEWYKFNDEDIEKMEGKKLQLGIEEDLAEPSKSQTRKPKCGKGTHCSRNAYMLVYRL
QTQEKPNTTVQVPAFLQELVDRDNSKFEEWCIEMAEMRKQSVDKGKAKHEEVKELYQRLP
AGAEPYEFVSLEWLQKWLDESTPTKPIDNHACLCSHDKLHPDKISIMKRISEYAADIFYS
RYGGGPRLTVKALCKECVVERCRILRLKNQLNEDYKTVNNLLKAAVKGSDGFWVGKSSLR
SWRQLALEQLDEQDGDAEQSNGKMNGSTLNKDESKEERKEEEELNFNEDILCPHGELCIS
ENERRLVSKEAWSKLQQYFPKAPEFPSYKECCSQCKILEREGEENEALHKMIANEQKTSL
PNLFQDKNRPCLSNWPEDTDVLYIVSQFFVEEWRKFVRKPTRCSPVSSVGNSALLCPHGG
LMFTFASMTKEDSKLIALIWPSEWQMIQKLFVVDHVIKITRIEVGDVNPSETQYISEPKL
CPECREGLLCQQQRDLREYTQATIYVHKVVDNKKVMKDSAPELNVSSSETEEDKEEAKPD
GEKDPDFNQSNGGTKRQKISHQNYIAYQKQVIRRSMRHRKVRGEKALLVSANQTLKELKI
QIMHAFSVAPFDQNLSIDGKILSDDCATLGTLGVIPESVILLKADEPIADYAAMDDVMQV
CMPEEGFKGTGLLGH
Sequence length 1035
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Ub-specific processing proteases
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
6
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hearing loss, autosomal dominant 85 Pathogenic rs201971084, rs2550305195 RCV003152419
RCV003152420
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Uncertain significance rs139458629 RCV005927237
Ovarian serous cystadenocarcinoma Uncertain significance rs139458629 RCV005927238
Prostate cancer Uncertain significance rs193921025 RCV000149317
Show/Hide Text Mining Associations (13)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
ACTH Secreting Pituitary Adenoma Associate 30093687, 36123588
Atherosclerosis Associate 19545487
Carcinogenesis Associate 28623188
Carcinoma Non Small Cell Lung Associate 35413838
Endometrial Neoplasms Associate 36508192
Fanconi Anemia Associate 29891926
Glioblastoma Associate 28623188
Glioma Associate 28623188
Helicobacter Infections Associate 35913642
Inflammation Associate 36508192, 38245760