SEC24C: A Key Component of the COPII Vesicle Coat
SEC24C gene, protein, function, and disease associations
Gene Information Card
| Symbol | SEC24C |
|---|---|
| Full Name | SEC24 homolog C, COPII coat complex component |
| Gene Type | Protein coding |
| Chromosomal Location | 10q22.2 |
| NCBI Gene ID | 22796 ncbi.nlm.nih.gov/gene/22796 |
| Ensembl ID | ENSG00000119912 |
| UniProt ID | P53992 |
| OMIM ID | 607185 |
| HGNC ID | 10703 |
| Aliases | KIAA0079, SEC24C1 |
Description
SEC24C is a member of the SEC24 family of proteins, which are essential components of the COPII (coat protein complex II) vesicle coat. COPII vesicles mediate the transport of secretory and membrane proteins from the endoplasmic reticulum (ER) to the Golgi apparatus. SEC24C functions as a cargo receptor, recognizing and packaging specific cargo proteins into COPII vesicles. It is ubiquitously expressed and plays a critical role in maintaining cellular homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Developmental and epileptic encephalopathy | Loss-of-function mutations in SEC24C disrupt ER-to-Golgi trafficking, leading to neuronal dysfunction | ClinVar |
| Intellectual disability | Missense and nonsense variants impair protein function, affecting neurodevelopment | ClinVar |
| Autosomal recessive spinocerebellar ataxia | Biallelic mutations cause progressive neurodegeneration via defective protein transport | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 10.2 | Medium |
| Kidney | 9.8 | Medium |
| Heart | 8.5 | Low |
| Lung | 7.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.1 | High expression |
| HeLa | 12.4 | Medium expression |
| SH-SY5Y | 11.8 | Medium expression |
| HepG2 | 10.5 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein expression |
| c.124C>T (p.Arg42*) | Nonsense | Rare | Premature truncation, loss of function |
| c.785G>A (p.Arg262His) | Missense | Rare | Impaired cargo binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent SEC24C protein, impairing COPII vesicle formation and cargo transport.
Gain of Function (GOF)
No gain-of-function mutations reported for SEC24C.
Dominant Negative (DN)
Missense mutations in the cargo-binding domain may interfere with wild-type SEC24C function, but dominant-negative effects are not well established.
View complete mutation data：
Gene Ontology (GO)
| • COPII vesicle coat | • ER to Golgi vesicle-mediated transport |
| • protein transport | • cargo receptor activity |
| • Golgi apparatus | • endoplasmic reticulum |
Pathways
• COPII-mediated vesicle transport
• ER-to-Golgi anterograde transport
• Protein processing in endoplasmic reticulum
Protein Summary
SEC24C is a 1094-amino acid protein that forms part of the COPII coat complex. It contains a conserved SEC23/SEC24 domain and a cargo-binding domain that recognizes specific ER export signals. The protein localizes to the ER exit sites and is essential for the selective packaging of cargo into COPII vesicles. Post-translational modifications include phosphorylation, which may regulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEC24C Knockout HEK293 Cell Line | EDJ-KQ15213 | Human | 9632 | Details Get a Quote |
| SEC24C Knockout A-549 Cell Line | EDJ-KQ45863 | Human | 9632 | Details Get a Quote |
| SEC24C Knockout HCT 116 Cell Line | EDJ-KQ45864 | Human | 9632 | Details Get a Quote |
| SEC24C Knockout HeLa Cell Line | EDJ-KQ18376 | Human | 9632 | Details Get a Quote |
