WIPI1
WD Repeat Domain, Phosphoinositide Interacting 1
Gene Information Card
| Symbol | WIPI1 |
|---|---|
| Full Name | WD Repeat Domain, Phosphoinositide Interacting 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q24.2 |
| NCBI Gene ID | 55062 ncbi.nlm.nih.gov/gene/55062 |
| Ensembl ID | ENSG00000170540 |
| UniProt ID | Q5MNZ9 |
| OMIM ID | 609224 |
| HGNC ID | 25425 |
| Aliases | ATG18A, WIPI49, CGI-50 |
Description
WIPI1 (WD Repeat Domain, Phosphoinositide Interacting 1) is a protein-coding gene that encodes a member of the WD40 repeat protein family. The protein is involved in autophagy, specifically in the formation of autophagosomes by binding to phosphatidylinositol 3-phosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2). WIPI1 acts as a scaffold for the autophagy machinery and is essential for autophagosome biogenesis. It is widely expressed in various tissues and has been implicated in cancer and neurodegenerative diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of autophagy via altered WIPI1 expression may promote tumorigenesis or resistance to therapy. | COSMIC; NCBI Gene |
| Neurodegenerative disorders | Impaired autophagy due to WIPI1 dysfunction may contribute to protein aggregation. | NCBI Gene; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.5 | Medium |
| Lung | 6.2 | Low |
| Liver | 4.1 | Low |
| Kidney | 7.8 | Medium |
| Testis | 12.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | High expression |
| HeLa | 7.5 | Medium expression |
| A549 | 5.9 | Low expression |
| MCF7 | 8.8 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of function; start codon loss |
| c.100C>T (p.Arg34Trp) | missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the WD40 repeat domain or PI3P binding may impair autophagy.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • autophagy | • phosphatidylinositol-3-phosphate binding |
| • WD40 repeat domain binding | • autophagosome assembly |
| • protein localization to phagophore assembly site |
Pathways
• Autophagy (KEGG hsa04140)
• mTOR signaling pathway
• PI3K/AKT signaling
Protein Summary
The WIPI1 protein contains 7 WD40 repeats that form a beta-propeller structure, enabling interaction with phosphoinositides. It localizes to the phagophore assembly site (PAS) and is critical for autophagosome formation. WIPI1 is considered a key autophagy regulator and is conserved across eukaryotes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WIPI1 Knockout HEK293 Cell Line | EDJ-KQ16144 | Human | 55062 | Details Get a Quote |
| WIPI1 Knockout A-549 Cell Line | EDJ-KQ47324 | Human | 55062 | Details Get a Quote |
| WIPI1 Knockout HCT 116 Cell Line | EDJ-KQ47325 | Human | 55062 | Details Get a Quote |
| WIPI1 Knockout HeLa Cell Line | EDJ-KQ47326 | Human | 55062 | Details Get a Quote |
