WDR91

Chr 7q33

WD repeat domain 91

Aliases:: HSPC049, SORF-1
MANE:: ENST00000354475.5

OMIM: 616303 ↗NCBI: 29062 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

WDR91 · A4D1P6

v62025-08-01

Predicted Aligned Error matrix for WDR91 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

74.2/ 100

Confident

747 residues

Confidence breakdown

Very high(≥ 90)39%
Confident(70–90)32%
Low(50–70)4%
Very low(< 50)25%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodegenerative disease
0.50
Hydrocephalus
0.37
cystic hygroma
0.37
preeclampsia
0.34
Abnormal brain morphology
0.23
Neurodevelopmental delay
0.18
mathematical ability
0.05
major depressive disorder
0.05
nutritional deficiency disease
0.05
aortic disorder
0.04

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

Protein function (UniProt)

WD repeat-containing protein 91

Functions as a negative regulator of the PI3 kinase/PI3K activity associated with endosomal membranes via BECN1, a core subunit of the PI3K complex. By modifying the phosphatidylinositol 3-phosphate/PtdInsP3 content of endosomal membranes may regulate endosome fusion, recycling, sorting and early to late endosome transport (PubMed:26783301). It is for instance, required for the delivery of cargos like BST2/tetherin from early to late endosome and thereby participates indirectly to their degradation by the lysosome (PubMed:27126989). May play a role in meiosis (By similarity)