SEC13 Gene - SEC13 Homolog, Nuclear Pore and COPII Coat Complex Component
Comprehensive biomedical resource for SEC13: function, expression, mutations, and associated diseases
Gene Information Card
| Symbol | SEC13 |
|---|---|
| Full Name | SEC13 homolog, nuclear pore and COPII coat complex component |
| Gene Type | Protein coding |
| Chromosomal Location | 3p25.3 |
| NCBI Gene ID | 6396 ncbi.nlm.nih.gov/gene/6396 |
| Ensembl ID | ENSG00000114013 |
| UniProt ID | P55735 |
| OMIM ID | 600152 |
| HGNC ID | 10697 |
| Aliases | D3S1231E, SEC13L1, SEC13R, GATOR2 complex subunit SEC13, SEC13-related protein |
Description
SEC13 encodes a protein that is a core component of both the nuclear pore complex (NPC) and the COPII vesicle coat, essential for nucleocytoplasmic transport and endoplasmic reticulum-to-Golgi vesicle trafficking. It also participates in the GATOR2 complex, regulating mTORC1 signaling in response to amino acid availability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual developmental disorder with microcephaly and pontocerebellar hypoplasia (IDDMPH) | Loss-of-function mutations in SEC13 disrupt nuclear pore assembly and neuronal development, leading to microcephaly and cerebellar hypoplasia. | ClinVar, OMIM |
| Cancer (various types) | SEC13 overexpression or mutation may alter nucleocytoplasmic transport and mTOR signaling, contributing to tumorigenesis. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.2 | High |
| Brain | 25.1 | Medium |
| Liver | 22.8 | Medium |
| Kidney | 20.5 | Medium |
| Heart | 18.3 | Medium |
| Lung | 16.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 32.4 | High expression |
| HeLa | 28.1 | High expression |
| HepG2 | 25.6 | Medium expression |
| K562 | 22.3 | Medium expression |
| A549 | 20.9 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.274C>T (p.Arg92*) | Nonsense | Rare | Loss of function; associated with IDDMPH |
| c.458G>A (p.Arg153Gln) | Missense | Rare | Uncertain significance; reported in ClinVar |
| c.1A>G (p.Met1?) | Start loss | Rare | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent protein, impairing NPC and COPII function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described for SEC13.
View complete mutation data：
Gene Ontology (GO)
| • nuclear pore | • COPII vesicle coat |
| • protein transport | • mTOR signaling |
| • GATOR2 complex | • endoplasmic reticulum |
| • Golgi apparatus | • nucleocytoplasmic transport |
Pathways
• Nuclear pore complex assembly and transport
• COPII-mediated vesicle trafficking
• mTORC1 signaling via GATOR2 complex
Protein Summary
SEC13 is a 322-amino acid protein containing WD40 repeats, forming a beta-propeller structure. It is a scaffold component of the nuclear pore complex (NPC) and the COPII coat, and also part of the GATOR2 complex that inhibits mTORC1 under amino acid starvation. The protein is ubiquitously expressed and essential for cellular trafficking and signaling.
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