OTUD5

Chr Xp11.23

OTU deubiquitinase 5

Aliases:: DKFZp761A052, DUBA
MANE:: ENST00000376488.8

OMIM: 300713 ↗NCBI: 55593 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

OTUD5 · Q96G74

v62025-08-01

Predicted Aligned Error matrix for OTUD5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

63.7/ 100

Low

571 residues

Confidence breakdown

Very high(≥ 90)28%
Confident(70–90)16%
Low(50–70)13%
Very low(< 50)43%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Paediatric disorders - additional genes
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

multiple congenital anomalies-neurodevelopmental syndrome, X-linked
0.76
neurodevelopmental disorder
0.37
complex neurodevelopmental disorder
0.37
hereditary disease
0.34
neurodegeneration with brain iron accumulation 5
0.26
Dysplastic corpus callosum
0.12
Abnormal cerebral cortex morphology
0.12
ependymoma
0.11
non-small cell lung carcinoma
0.10
neoplasm
0.09

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

Protein function (UniProt)

OTU domain-containing protein 5

Deubiquitinating enzyme that functions as a negative regulator of the innate immune system (PubMed:17991829, PubMed:22245969, PubMed:23827681, PubMed:33523931). Has peptidase activity towards 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains (PubMed:22245969). Can also cleave 'Lys-11'-linked ubiquitin chains (in vitro) (PubMed:22245969). Acts via TRAF3 deubiquitination and subsequent suppression of type I interferon (IFN) production (PubMed:17991829). Controls neuroectodermal differentiation through cleaving 'Lys-48'-linked ubiquitin chains to counteract degradation of select chromatin regulators such as ARID1A, HDAC2 and HCF1 (PubMed:33523931). Acts as a positive regulator of mTORC1 and mTORC2 signaling following phosphorylation by MTOR: acts by mediating deubiquitination of BTRC, leading to its stability (PubMed:33110214)