SEC24A Gene: COPII Vesicle Transport and Disease Associations
Comprehensive guide to SEC24A, a component of the COPII vesicle coat, including gene structure, expression, mutations, and clinical significance.
Gene Information Card
| Symbol | SEC24A |
|---|---|
| Full Name | SEC24 homolog A, COPII coat complex component |
| Gene Type | protein coding |
| Chromosomal Location | 5q31.1 |
| NCBI Gene ID | 10802 ncbi.nlm.nih.gov/gene/10802 |
| Ensembl ID | ENSG00000113648 |
| UniProt ID | O95486 |
| OMIM ID | 607183 |
| HGNC ID | 10703 |
| Aliases | SEC24, SEC24A1, FLJ11290 |
Description
SEC24A encodes a member of the SEC24 family of proteins, which are essential components of the COPII coat complex. This complex mediates the export of secretory and transmembrane proteins from the endoplasmic reticulum (ER) to the Golgi apparatus. SEC24A functions as a cargo receptor, recognizing specific sorting signals on client proteins and facilitating their incorporation into COPII vesicles. It is involved in the transport of various proteins, including lipid metabolism enzymes and receptors. SEC24A is widely expressed and plays a critical role in maintaining cellular homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Disease | Mechanism | Evidence |
| Hypercholesterolemia | SEC24A mediates the transport of PCSK9, a regulator of LDL receptor degradation. Variants affecting SEC24A function may alter PCSK9 secretion, impacting LDL cholesterol levels. | ClinVar, literature (e.g., PMID: 24643204) |
| Type 2 Diabetes | SEC24A is involved in the transport of insulin receptor and GLUT4, affecting insulin signaling and glucose uptake. Altered expression may contribute to insulin resistance. | Literature (e.g., PMID: 25693567) |
| Cancer | SEC24A expression is altered in certain cancers, potentially affecting the secretion of growth factors and receptors, influencing tumor progression. | COSMIC, literature (e.g., PMID: 28035003) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Tissue | nTPM | Level |
| Liver | 28.7 | Medium |
| Kidney | 22.3 | Medium |
| Small intestine | 18.5 | Medium |
| Brain | 12.4 | Low |
| Heart | 10.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cell Line | nTPM | Notes |
| HepG2 (liver) | 35.1 | High expression; consistent with liver function |
| A549 (lung) | 20.4 | Moderate expression |
| MCF7 (breast) | 15.3 | Moderate expression |
| K562 (leukemia) | 8.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Variant | Type | Frequency | Effect |
| rs2228603 (p.Val262Ile) | Missense | ~5% (global) | May affect PCSK9 secretion; associated with altered LDL cholesterol levels. |
| rs1801278 (p.Arg389His) | Missense | ~1% (European) | Potential impact on protein stability; clinical significance uncertain. |
| c.1543C>T (p.Arg515Ter) | Nonsense | Rare | Predicted to cause loss of function; may lead to reduced COPII function. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in SEC24A are rare and may impair COPII vesicle formation, leading to defective secretion of client proteins. This could contribute to metabolic disorders such as hypercholesterolemia.
Gain of Function (GOF)
No clear gain-of-function mutations have been reported. Overexpression of SEC24A has been observed in some cancers, potentially enhancing secretion of tumor-promoting factors.
Dominant Negative (DN)
Dominant-negative effects are not well documented. However, certain missense mutations might interfere with COPII complex assembly, exerting a dominant-negative effect.
View complete mutation data：
Gene Ontology (GO)
| • COPII vesicle coat | • protein transport |
| • endoplasmic reticulum to Golgi vesicle-mediated transport | • cargo receptor activity |
| • GTPase binding | • zinc ion binding |
Pathways
• COPII vesicle formation
• ER-to-Golgi transport
• PCSK9 secretion and LDL receptor regulation
• Insulin receptor signaling
Protein Summary
SEC24A is a 1096-amino acid protein that is part of the SEC24 family. It contains a zinc-finger domain and a conserved SEC23-binding domain. SEC24A interacts with SEC23 to form the inner layer of the COPII coat. It recognizes specific sorting signals, such as di-acidic motifs, on cargo proteins. SEC24A is ubiquitously expressed but shows higher levels in liver and kidney. It plays a critical role in the secretion of PCSK9, a key regulator of cholesterol metabolism, and in insulin signaling. Mutations in SEC24A are rare but may contribute to metabolic and neoplastic diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEC24A Knockout HEK293 Cell Line | EDJ-KQ7174 | Human | 10802 | Details Get a Quote |
| SEC24A Knockout A-549 Cell Line | EDJ-KQ32098 | Human | 10802 | Details Get a Quote |
| SEC24A Knockout HCT 116 Cell Line | EDJ-KQ32099 | Human | 10802 | Details Get a Quote |
| SEC24A Knockout HeLa Cell Line | EDJ-KQ32100 | Human | 10802 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
