USP48 Gene Summary [Human]

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 bond at the C-terminal glycine of ubiquitin. Enzymes in peptidase family C19 are involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

Details

Type
Protein Coding
Official Symbol
USP48
Official Name
ubiquitin specific peptidase 48 [Source:HGNC Symbol;Acc:HGNC:18533]
Ensembl ID
ENSG00000090686
Bio databases IDs NCBI: 84196 Ensembl: ENSG00000090686
Aliases ubiquitin specific peptidase 48
Synonyms 2810449C13Rik, D330022K21Rik, DFNA85, LOC100911993, LOC674195, RAP1GA1, synUSP, ubiquitin specific peptidase 48, USP31
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human USP48 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Ubiquitin family
  • Ubl1_cv_Nsp3_N-like
  • peptidase
  • Ubiquitin carboxyl-terminal hydrolase
  • Ubiquitin homologues
  • DUSP domain
  • protein binding
  • Peptidase_C19
  • ubiquitin-like-specific protease

Pathways

Biological processes and signaling networks where the USP48 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • neoplasia
  • epithelial cancer
  • non-insulin-dependent diabetes mellitus
  • hypothyroidism
  • autosomal dominant deafness type 85
  • liver cancer
  • hepatocellular carcinoma
  • nonalcoholic fatty liver disease
regulated by
  • SHH
  • GLI1
  • beta-estradiol
  • lipopolysaccharide
  • TP63
  • PD 128907
  • HPI-1
  • TAFAZZIN
  • MITF
role in cell
  • activation in
  • expression in
  • apoptosis
  • proliferation
  • accumulation in
  • colony formation
  • accumulation
  • pyroptosis
  • degradation in
  • K48 polyubiquitination in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • Mitochondria
  • cytosol
  • postsynaptic membrane
  • nucleoplasm

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human USP48 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • protein deubiquitination
  • proteolysis

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • mitochondrion
  • cilium
  • cytosol
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • ubiquitin-specific protease activity
  • protein binding
  • cysteine-type endopeptidase activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.