SEC31A: COPII Coat Component and Its Role in Protein Trafficking and Disease
A comprehensive overview of SEC31A gene, protein function, expression, mutations, and associated diseases
Gene Information Card
| Symbol | SEC31A |
|---|---|
| Full Name | SEC31 homolog A, COPII coat complex component |
| Gene Type | Protein coding |
| Chromosomal Location | 4q21.22 |
| NCBI Gene ID | 22872 ncbi.nlm.nih.gov/gene/22872 |
| Ensembl ID | ENSG00000138674 |
| UniProt ID | O94979 |
| OMIM ID | 610257 |
| HGNC ID | 16982 |
| Aliases | SEC31L1, ABP125, HSPC275, SEC31-related protein A |
Description
SEC31A encodes a component of the COPII coat complex, which is essential for vesicle-mediated transport from the endoplasmic reticulum to the Golgi apparatus. The protein forms a complex with SEC13 and other COPII subunits to generate vesicles that carry secretory and membrane proteins. SEC31A is involved in autophagy and may play a role in cancer and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered SEC31A expression may affect protein secretion and signaling pathways, contributing to tumor progression. | COSMIC: mutations and expression changes observed in multiple cancer types. |
| Neurodevelopmental disorders | Potential impact on neuronal protein trafficking; rare variants may contribute to disease risk. | ClinVar: reported variants of uncertain significance in patients with intellectual disability. |
| Infectious diseases | SEC31A is exploited by viruses (e.g., hepatitis C) for replication; altered expression may influence viral pathogenesis. | PubMed: interaction with viral proteins documented. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Thyroid | 12.4 | Medium |
| Adrenal gland | 10.2 | Medium |
| Small intestine | 9.8 | Medium |
| Liver | 8.5 | Low |
| Brain | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression; used in trafficking studies. |
| HepG2 | 12.8 | High expression; relevant to hepatitis C studies. |
| A549 | 9.5 | Moderate expression. |
| MCF7 | 7.3 | Moderate expression. |
| K562 | 4.1 | Low expression. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Lys412Glu) | Missense | 0.01% (gnomAD) | Potential impact on protein stability; not well characterized. |
| c.567delC (p.Leu190Trpfs*5) | Frameshift | Rare | Predicted loss-of-function; may impair COPII function. |
| c.2345C>T (p.Thr782Met) | Missense | 0.02% (gnomAD) | Uncertain significance; possibly benign. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in SEC31A are rare and may lead to defective COPII vesicle formation, impairing protein secretion. This could contribute to cellular stress and disease phenotypes.
Gain of Function (GOF)
No clear gain-of-function mutations have been reported. Overexpression of SEC31A in some cancers may enhance vesicle trafficking and promote tumor growth.
Dominant Negative (DN)
Dominant-negative effects are possible if mutant SEC31A disrupts COPII complex assembly, but no specific variants have been confirmed.
View complete mutation data：
Gene Ontology (GO)
| • COPII vesicle coat | • protein transport |
| • endoplasmic reticulum to Golgi vesicle-mediated transport | • autophagy |
| • GTPase binding |
Pathways
• COPII-mediated vesicle transport
• Endoplasmic reticulum to Golgi trafficking
• Autophagy pathway
Protein Summary
SEC31A is a 1220-amino-acid protein that is part of the outer layer of the COPII coat. It interacts with SEC13 to form a lattice that deforms the ER membrane into vesicles. SEC31A also binds to SEC23/SEC24 complexes and is regulated by the small GTPase SAR1. The protein is ubiquitously expressed and is essential for secretion of many proteins. It has been implicated in cancer and viral infections.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEC31A Knockout HEK293 Cell Line | EDJ-KQ7708 | Human | 22872 | Details Get a Quote |
| SEC31A Knockout A-549 Cell Line | EDJ-KQ33099 | Human | 22872 | Details Get a Quote |
| SEC31A Knockout HeLa Cell Line | EDJ-KQ33101 | Human | 22872 | Details Get a Quote |
| SEC31A Knockout HCT 116 Cell Line | EDJ-KQ31772 | Human | 22872 | Details Get a Quote |
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