SEC14L1: SEC14-like lipid binding 1
A phosphatidylinositol transfer protein involved in vesicular trafficking and lipid metabolism
Gene Information Card
| Symbol | SEC14L1 |
|---|---|
| Full Name | SEC14-like lipid binding 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 6397 ncbi.nlm.nih.gov/gene/6397 |
| Ensembl ID | ENSG00000108379 |
| UniProt ID | Q9UPX6 |
| OMIM ID | 607558 |
| HGNC ID | 10699 |
| Aliases | SEC14L, SEC14-like 1, TAP1, p45 |
Description
SEC14L1 encodes a member of the SEC14 family of phosphatidylinositol transfer proteins (PITPs). The protein binds and transfers phosphatidylinositol and phosphatidylcholine, playing a role in lipid homeostasis, vesicular trafficking, and signal transduction. It is ubiquitously expressed with highest levels in brain, testis, and kidney. Alternative splicing generates multiple isoforms.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered SEC14L1 expression may disrupt lipid signaling and membrane trafficking, promoting tumorigenesis. | COSMIC reports somatic mutations in multiple cancer types. |
| Neurodegenerative disorders | Impaired lipid transfer affects neuronal membrane dynamics and vesicle transport. | ClinVar lists variants associated with neurological phenotypes. |
| Metabolic syndrome | Dysregulation of lipid metabolism via SEC14L1 may contribute to insulin resistance. | GWAS studies suggest linkage to metabolic traits. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 15.2 | Medium |
| Kidney | 10.8 | Medium |
| Liver | 8.3 | Low |
| Heart | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | High expression |
| HeLa | 11.2 | Moderate expression |
| K562 | 9.5 | Moderate expression |
| A549 | 8.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1010A>G (p.Tyr337Cys) | Missense | <0.1% | Unknown functional impact |
| c.1543C>T (p.Arg515Trp) | Missense | <0.1% | Predicted damaging (SIFT) |
| c.2012_2013insA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to truncated protein and loss of lipid transfer activity.
Gain of Function (GOF)
Not well characterized; some missense variants may alter substrate specificity.
Dominant Negative (DN)
No evidence currently.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidylinositol transfer activity | • phosphatidylcholine transfer activity |
| • lipid binding | • vesicle-mediated transport |
| • Golgi vesicle transport |
Pathways
• Phosphatidylinositol signaling system
• Vesicular trafficking
• Lipid transport
Protein Summary
SEC14L1 is a 45 kDa protein containing a SEC14 domain and a Golgi dynamics (GOLD) domain. It localizes to the Golgi apparatus and cytosol, facilitating the exchange of phosphatidylinositol and phosphatidylcholine between membranes. This activity is critical for maintaining lipid composition and proper vesicular transport.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEC14L1 Knockout HEK293 Cell Line | EDJ-KQ2693 | Human | 6397 | Details Get a Quote |
| SEC14L1 Knockout A-549 Cell Line | EDJ-KQ23517 | Human | 6397 | Details Get a Quote |
| SEC14L1 Knockout HCT 116 Cell Line | EDJ-KQ23518 | Human | 6397 | Details Get a Quote |
| SEC14L1 Knockout HeLa Cell Line | EDJ-KQ23519 | Human | 6397 | Details Get a Quote |
