WDR44: A WD40 Repeat-Containing Protein Involved in Ciliogenesis and Vesicular Trafficking
Comprehensive genomic and proteomic overview of WDR44, a gene associated with ciliary function and potential links to developmental disorders.
Gene Information Card
| Symbol | WDR44 |
|---|---|
| Full Name | WD repeat domain 44 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq24 |
| NCBI Gene ID | 54521 ncbi.nlm.nih.gov/gene/54521 |
| Ensembl ID | ENSG00000131725 |
| UniProt ID | Q5JSH3 |
| OMIM ID | 300532 |
| HGNC ID | 29129 |
| Aliases | RAB11BP, RAB11-FIP5, RAB11 binding protein, FLJ12529 |
Description
WDR44 encodes a WD40 repeat-containing protein that functions as a RAB11 effector, playing a critical role in ciliogenesis and vesicular trafficking. The protein localizes to the base of cilia and is involved in the transport of cargo to the ciliary membrane. Mutations in WDR44 have been implicated in X-linked intellectual disability and ciliopathy-related phenotypes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked intellectual disability | Loss-of-function mutations in WDR44 disrupt RAB11-mediated vesicular trafficking, impairing ciliary function and neuronal development. | PMID: 25439727 |
| Ciliopathy (syndromic) | Defective ciliogenesis due to WDR44 deficiency leads to multisystem developmental abnormalities. | PMID: 25439727 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebellum) | 8.2 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.3 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| HeLa | 10.5 | Moderate expression |
| SH-SY5Y | 7.8 | Low expression |
| HepG2 | 3.2 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1003C>T (p.Arg335*) | Nonsense | Rare | Loss of function; truncation of WD40 repeats |
| c.1486_1487del (p.Glu496fs) | Frameshift | Rare | Loss of function; premature termination |
| c.214G>A (p.Gly72Ser) | Missense | Rare | Unknown effect; located in WD40 domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg335*, p.Glu496fs) lead to truncated protein lacking functional WD40 repeats, impairing RAB11 binding and ciliary trafficking.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • RAB11 binding (GO:0017137) |
| • cell projection organization (GO:0030030) | • cilium assembly (GO:0060271) |
| • Golgi to plasma membrane transport (GO:0043001) |
Pathways
• RAB11-mediated vesicular trafficking
• Ciliogenesis
Protein Summary
WDR44 is a 1076-amino acid protein containing multiple WD40 repeats that form a beta-propeller structure. It binds directly to RAB11 via its C-terminal region and localizes to the pericentrosomal region and ciliary base. The protein facilitates the delivery of vesicles to the ciliary membrane, essential for cilia formation and function. Loss of WDR44 leads to shortened or absent cilia, linking it to ciliopathy phenotypes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WDR44 Knockout HEK293 Cell Line | EDJ-KQ11452 | Human | 54521 | Details Get a Quote |
| WDR44 Knockout A-549 Cell Line | EDJ-KQ39740 | Human | 54521 | Details Get a Quote |
| WDR44 Knockout HCT 116 Cell Line | EDJ-KQ39741 | Human | 54521 | Details Get a Quote |
| WDR44 Knockout HeLa Cell Line | EDJ-KQ39742 | Human | 54521 | Details Get a Quote |
