AlphaFold predicted structure
WDR44 · Q5JSH3
Mean pLDDT
62.0/ 100
Low
913 residues
Confidence breakdown
- Very high(≥ 90)31%
- Confident(70–90)12%
- Low(50–70)9%
- Very low(< 50)48%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
WDR44
Chr Xq24WD repeat domain 44
- Aliases:
- DKFZp686L20145, RPH11, RAB11BP, SYM-4
- MANE:
- ENST00000254029.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesFetal anomalies
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Disease associations (Open Targets)
ciliopathy
0.55neurodegenerative disease
0.50Parkinson disease
0.02infection
0.01parasitic infectious disease
0.00chronic rhinosinusitis with nasal polyps
0.00cancer
0.00Renal cyst
0.00cystic kidney disease
0.00Talipes equinovarus
0.00
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
WD repeat-containing protein 44
Downstream effector for Rab11 which regulates Rab11 intracellular membrane trafficking functions such as endocytic recycling, intracellular ciliogenesis and protein export (PubMed:31204173, PubMed:32344433). ATK1-mediated phosphorylation of WDR44 induces binding to Rab11 which activates endocytic recycling of transferrin receptor back to the plasma membrane (PubMed:31204173). When bound to Rab11, prevents the formation of the ciliogenic Rab11-Rabin8/RAB3IP-RAB11FIP3 complex, therefore inhibiting preciliary trafficking and ciliogenesis (PubMed:31204173). Participates in neo-synthesized protein export by connecting the endoplasmic reticulum (ER) with the endosomal tubule via direct interactions with the integral ER proteins VAPA or VAPB and the endosomal protein GRAFs (GRAF1/ARHGAP26 or GRAF2/ARHGAP10), which facilitates the transfer of proteins such as E-cadherin, MPP14 and CFTR into a Rab8-Rab10-Rab11-dependent export route (PubMed:32344433)
Diseases associated with WDR44
Curated MONDO disease pages that list WDR44 among their top associated genes.