LDAF1: Lipid Droplet Assembly Factor 1
A key regulator of lipid droplet biogenesis and cellular lipid homeostasis
Gene Information Card
| Symbol | LDAF1 |
|---|---|
| Full Name | Lipid Droplet Assembly Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p11.2 |
| NCBI Gene ID | 553137 ncbi.nlm.nih.gov/gene/553137 |
| Ensembl ID | ENSG00000196419 |
| UniProt ID | Q6ZP29 |
| OMIM ID | 617714 |
| HGNC ID | 28308 |
| Aliases | C16orf58, FLJ22662, LDAF1 |
Description
LDAF1 (Lipid Droplet Assembly Factor 1) is a protein-coding gene located on chromosome 16p11.2. It encodes a transmembrane protein that localizes to the endoplasmic reticulum and lipid droplets. LDAF1 plays a critical role in the biogenesis of lipid droplets by facilitating the transfer of neutral lipids from the ER membrane to nascent lipid droplets. It interacts with seipin (BSCL2) to regulate lipid droplet size and number. Loss of LDAF1 leads to impaired lipid droplet formation and altered lipid metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lipodystrophy | LDAF1 deficiency disrupts lipid droplet assembly, leading to abnormal fat storage and distribution. | OMIM #617714; PMID: 29097562 |
| Metabolic syndrome | Altered LDAF1 expression may contribute to dyslipidemia and insulin resistance. | PMID: 29097562 |
| Hepatosteatosis | Impaired lipid droplet formation in hepatocytes due to LDAF1 dysfunction. | PMID: 29097562 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 15.2 | Medium |
| Liver | 12.8 | Medium |
| Small intestine | 10.5 | Medium |
| Brain | 3.1 | Low |
| Heart | 2.4 | Low |
| Skeletal muscle | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 18.5 | Hepatocellular carcinoma cell line |
| 3T3-L1 | 22.3 | Adipocyte precursor cell line |
| HeLa | 6.7 | Cervical cancer cell line |
| HEK293 | 4.2 | Embryonic kidney 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.124C>T (p.Arg42*) | Nonsense | Rare | Premature stop, loss of function |
| c.287_289del (p.Phe96del) | Deletion | Rare | In-frame deletion, possibly damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein, impairing lipid droplet assembly.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • integral component of membrane (GO:0016021) | • endoplasmic reticulum (GO:0005783) |
| • lipid droplet (GO:0005811) | • lipid storage (GO:0019915) |
| • lipid droplet organization (GO:0034389) | • lipoprotein metabolic process (GO:0042157) |
Pathways
• Lipid droplet biogenesis (Reactome: R-HSA-8963896)
• Triglyceride metabolism (Reactome: R-HSA-8978868)
Protein Summary
LDAF1 is a 160-amino acid transmembrane protein with two predicted transmembrane domains. It localizes to the endoplasmic reticulum and lipid droplets. LDAF1 interacts with seipin (BSCL2) to form a complex that promotes the transfer of neutral lipids (triglycerides) from the ER membrane to growing lipid droplets. This process is essential for proper lipid droplet formation, size control, and cellular lipid homeostasis. LDAF1 is highly expressed in adipose tissue and liver, consistent with its role in lipid storage.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LDAF1 Knockout HEK293 Cell Line | EDJ-KQ14047 | Human | 57146 | Details Get a Quote |
| LDAF1 Knockout A-549 Cell Line | EDJ-KQ43951 | Human | 57146 | Details Get a Quote |
| LDAF1 Knockout HCT 116 Cell Line | EDJ-KQ43952 | Human | 57146 | Details Get a Quote |
| LDAF1 Knockout HeLa Cell Line | EDJ-KQ43953 | Human | 57146 | Details Get a Quote |
