USP48

Chr 1p36.12

ubiquitin specific peptidase 48

Aliases:: FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879
MANE:: ENST00000308271.14

OMIM: 617445 ↗NCBI: 84196 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

USP48 · Q86UV5

v62025-08-01

Predicted Aligned Error matrix for USP48 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

81.1/ 100

Confident

1,035 residues

Confidence breakdown

Very high(≥ 90)50%
Confident(70–90)32%
Low(50–70)7%
Very low(< 50)12%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

hearing loss, autosomal dominant 85
0.52
type 2 diabetes mellitus
0.39
autosomal dominant nonsyndromic hearing loss
0.37
nonsyndromic genetic hearing loss
0.37
Non-syndromic genetic deafness
0.37
nonsyndromic deafness
0.37
ovarian neoplasm
0.26
alcohol drinking
0.26
bone remodeling disease
0.20
prostate cancer
0.11

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Ubiquitin carboxyl-terminal hydrolase 48

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 in the regulation of NF-kappa-B activation by TNF receptor superfamily via its interactions with RELA and TRAF2. May also play a regulatory role at postsynaptic sites. Plays an important role in cell cycle progression by deubiquitinating Aurora B/AURKB and thereby extending its stability (PubMed:34445214). In the context of H.pylori infection, stabilizes nuclear RELA through deubiquitination, thereby promoting the transcriptional activity of RELA to prolong TNFAIP3 de novo synthesis. Consequently, TNFAIP3 suppresses caspase activity and apoptotic cell death (PubMed:35913642). Also functions in the modulation of the ciliary and synaptic transport as well as cytoskeleton organization, which are key for photoreceptor function and homeostasis. To achieve this, stabilizes the levels of the retinal degeneration-associated proteins ARL3 and UNC119 using distinct mechanisms (PubMed:36293380). Plays a positive role in pyroptosis by stabilizing gasdermin E/GSDME through removal of its 'Lys-48'-linked ubiquitination (PubMed:36607699)