WDR83OS

Chr 19p13.13

WD repeat domain 83 opposite strand

Aliases:: PTD008, PAT10
MANE:: ENST00000596731.7

OMIM: 618474 ↗NCBI: 51398 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

WDR83OS · Q9Y284

v62025-08-01

Predicted Aligned Error matrix for WDR83OS — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

62.1/ 100

Low

106 residues

Confidence breakdown

Very high(≥ 90)0%
Confident(70–90)22%
Low(50–70)75%
Very low(< 50)4%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Cholestasis
BIALLELIC, autosomal or pseudoautosomal
Neonatal cholestasis
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodevelopmental disorder with variable familial hypercholanemia
0.60
hypercholanemia, familial
0.50
neurodevelopmental disorder with seizures and speech and walking impairment
0.12
Cholestatic liver disease
0.01
neurodevelopmental disorder
0.01
Intellectual disability
0.00
melanoma
0.00
nervous system disorder
0.00
microcephaly
0.00
hepatocellular carcinoma
0.00

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

Protein function (UniProt)

PAT complex subunit Asterix

Component of the multi-pass translocon (MPT) complex that mediates insertion of multi-pass membrane proteins into the lipid bilayer of membranes (PubMed:12475939, PubMed:32814900, PubMed:36261522). The MPT complex takes over after the SEC61 complex: following membrane insertion of the first few transmembrane segments of proteins by the SEC61 complex, the MPT complex occludes the lateral gate of the SEC61 complex to promote insertion of subsequent transmembrane regions (PubMed:32814900, PubMed:36261522). Within the MPT complex, the PAT subcomplex sequesters any highly polar regions in the transmembrane domains away from the non-polar membrane environment until they can be buried in the interior of the fully assembled protein (By similarity). Within the PAT subcomplex, WDR83OS/Asterix binds to and redirects the substrate to a location behind the SEC61 complex (By similarity)