SEC14L5 Gene
SEC14-like lipid binding 5
Gene Information Card
| Symbol | SEC14L5 |
|---|---|
| Full Name | SEC14-like lipid binding 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 9717 ncbi.nlm.nih.gov/gene/9717 |
| Ensembl ID | ENSG00000103175 |
| UniProt ID | Q9NUP1 |
| OMIM ID | 614819 |
| HGNC ID | 30399 |
| Aliases | KIAA1622, SEC14L5 |
Description
SEC14L5 encodes a member of the SEC14-like lipid binding family. The protein contains a SEC14 domain and is involved in intracellular lipid transport and signaling. It is expressed in various tissues and may play a role in cellular processes such as vesicular trafficking and lipid metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease associations reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 10.2 | Medium |
| Testis | 15.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.5 | Moderate expression |
| HeLa | 7.2 | Low expression |
| A549 | 11.0 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • lipid binding | • phospholipid binding |
| • intracellular lipid transport |
Pathways
• Lipid transport
• Vesicle-mediated transport
Protein Summary
SEC14L5 is a 778-amino acid protein containing a SEC14 domain that binds phospholipids. It is predicted to localize to the cytoplasm and may participate in lipid homeostasis and membrane trafficking. Its exact biological function remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEC14L5 Knockout HEK293 Cell Line | EDJ-KQ6711 | Human | 9717 | Details Get a Quote |
| SEC14L5 Knockout HeLa Cell Line | EDJ-KQ55233 | Human | 9717 | Details Get a Quote |
| SEC14L5 Knockout A-549 Cell Line | EDJ-KQ63714 | Human | 9717 | Details Get a Quote |
| SEC14L5 Knockout HCT 116 Cell Line | EDJ-KQ72175 | Human | 9717 | Details Get a Quote |
