WDR91: WD Repeat Domain 91
A gene encoding a WD40-repeat protein involved in endosomal trafficking and autophagy, with potential links to neurodevelopmental disorders and cancer.
Gene Information Card
| Symbol | WDR91 |
|---|---|
| Full Name | WD Repeat Domain 91 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q33 |
| NCBI Gene ID | 29062 ncbi.nlm.nih.gov/gene/29062 |
| Ensembl ID | ENSG00000106031 |
| UniProt ID | Q96A73 |
| OMIM ID | 618150 |
| HGNC ID | 25647 |
| Aliases | C7orf11, HSPC049, MSTP049 |
Description
WDR91 encodes a member of the WD40 repeat protein family. The protein localizes to endosomes and is involved in endosomal trafficking, autophagosome maturation, and regulation of the PI3K/AKT signaling pathway. It is essential for normal brain development and neuronal function in model organisms.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly and seizures | Loss-of-function mutations impair endosomal trafficking and autophagy, leading to neuronal dysfunction | ClinVar; PMID: 31564436 |
| Breast cancer | Overexpression may promote tumor growth via PI3K/AKT pathway activation | COSMIC; PMID: 28481328 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 10.8 | Moderate expression |
| SH-SY5Y | 9.5 | Neuronal cell line |
| MCF7 | 7.3 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Impaired protein stability |
| c.500_501insA | Frameshift | Not reported | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in WDR91 lead to truncated protein and loss of endosomal trafficking function.
Gain of Function (GOF)
Not described in literature.
Dominant Negative (DN)
Not described in literature.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Autophagy - endosome maturation
• PI3K/AKT signaling
Protein Summary
WDR91 is a 364-amino acid protein containing seven WD40 repeats that form a beta-propeller structure. It interacts with the WDR81 protein and the phosphatidylinositol 3-kinase complex to regulate endosomal maturation and autophagic flux. Loss of WDR91 disrupts endosomal-lysosomal degradation and is associated with neurodevelopmental phenotypes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WDR91 Knockout HEK293 Cell Line | EDJ-KQ8974 | Human | 29062 | Details Get a Quote |
| WDR91 Knockout A-549 Cell Line | EDJ-KQ35388 | Human | 29062 | Details Get a Quote |
| WDR91 Knockout HCT 116 Cell Line | EDJ-KQ35389 | Human | 29062 | Details Get a Quote |
| WDR91 Knockout HeLa Cell Line | EDJ-KQ35390 | Human | 29062 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
