WDTC1: A Key Regulator of Adipogenesis and Energy Homeostasis
Comprehensive genomic and functional analysis of the WDTC1 gene, its role in obesity, and its potential as a therapeutic target.
Gene Information Card
| Symbol | WDTC1 |
|---|---|
| Full Name | WD and tetratricopeptide repeats 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.11 |
| NCBI Gene ID | 23338 ncbi.nlm.nih.gov/gene/23338 |
| Ensembl ID | ENSG00000116285 |
| UniProt ID | Q8N5D0 |
| OMIM ID | 613103 |
| HGNC ID | 29131 |
| Aliases | ADP, FLJ11088, MGC131851 |
Description
WDTC1 (WD and tetratricopeptide repeats 1) is a protein-coding gene that encodes a conserved negative regulator of adipogenesis. It is involved in energy homeostasis and lipid metabolism. The protein contains WD40 and tetratricopeptide repeat (TPR) domains, which are implicated in protein-protein interactions and cellular signaling. WDTC1 is widely expressed and its dysfunction is linked to obesity and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | Loss of WDTC1 function leads to increased adipogenesis and fat accumulation. | OMIM 613103; NCBI Gene |
| Metabolic syndrome | Dysregulation of energy homeostasis and lipid metabolism. | OMIM 613103 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 5.2 | Low |
| Liver | 3.8 | Low |
| Brain | 2.1 | Low |
| Heart | 1.5 | Low |
| Skeletal muscle | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 2.5 | Cervical cancer cell line |
| HEK293 | 3.0 | Embryonic kidney cells |
| HepG2 | 4.1 | Hepatocellular carcinoma cells |
| 3T3-L1 | 6.8 | Adipocyte precursor cells (mouse) |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T | Missense | 0.01% | p.Arg349Trp; potential loss of function |
| c.1523G>A | Nonsense | <0.01% | p.Trp508*; premature stop, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that disrupt WD40 or TPR domains impair protein function, leading to increased adipogenesis.
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)
| • GO:0005515 (GO:0005515) | • GO:0005737 (GO:0005737) |
| • GO:0045444 (GO:0045444) | • GO:0006629 (GO:0006629) |
| • GO:0016020 (GO:0016020) |
Pathways
• Adipogenesis
• Energy metabolism
• Lipid metabolism
Protein Summary
The WDTC1 protein is a 1,174-amino acid polypeptide containing multiple WD40 repeats and TPR domains. It localizes to the cytoplasm and nucleus. WDTC1 acts as a negative regulator of adipogenesis by inhibiting the expression of key adipogenic transcription factors such as PPARγ and C/EBPα. It also modulates energy homeostasis by influencing lipid storage and mitochondrial function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WDTC1 Knockout HEK293 Cell Line | EDJ-KQ7783 | Human | 23038 | Details Get a Quote |
| WDTC1 Knockout A-549 Cell Line | EDJ-KQ33268 | Human | 23038 | Details Get a Quote |
| WDTC1 Knockout HCT 116 Cell Line | EDJ-KQ33269 | Human | 23038 | Details Get a Quote |
| WDTC1 Knockout HeLa Cell Line | EDJ-KQ33270 | Human | 23038 | Details Get a Quote |
