SEC61A1
SEC61 Translocon Subunit Alpha 1
Gene Information Card
| Symbol | SEC61A1 |
|---|---|
| Full Name | SEC61 translocon subunit alpha 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q21.3 |
| NCBI Gene ID | 29927 ncbi.nlm.nih.gov/gene/29927 |
| Ensembl ID | ENSG00000158270 |
| UniProt ID | P61619 |
| OMIM ID | 609213 |
| HGNC ID | 10698 |
| Aliases | SEC61, SEC61A, HSEC61, P61 |
Description
The SEC61A1 gene encodes the alpha subunit of the SEC61 complex, a heterotrimeric channel essential for the translocation of nascent polypeptides across the endoplasmic reticulum (ER) membrane. This complex also facilitates the integration of membrane proteins and plays a role in ER-associated degradation (ERAD). Mutations in SEC61A1 can disrupt protein translocation, leading to ER stress and various diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Tubulointerstitial kidney disease, autosomal dominant | Impaired protein translocation in renal tubular cells leading to ER stress and cell death | ClinVar, OMIM |
| Congenital disorder of glycosylation, type I | Defective translocation of glycosylation enzymes or substrates into the ER | OMIM |
| Autoimmune disease (e.g., inflammatory bowel disease) | Altered ER stress response and immune signaling | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 15.2 | Medium |
| Liver | 12.8 | Medium |
| Pancreas | 10.5 | Medium |
| Brain | 8.3 | Low |
| Heart | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.4 | High expression |
| HeLa | 14.2 | Medium expression |
| HepG2 | 11.9 | Medium expression |
| K562 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.82G>A (p.Val28Met) | Missense | Rare | Impaired translocon function, associated with kidney disease |
| c.383A>G (p.Tyr128Cys) | Missense | Rare | Reduced protein translocation efficiency |
| c.553C>T (p.Arg185Trp) | Missense | Rare | Dominant-negative effect on SEC61 complex |
Mutation functional classification
Loss of Function (LOF)
Homozygous loss-of-function mutations are likely lethal; heterozygous missense mutations reduce translocon activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Some missense mutations (e.g., p.Arg185Trp) exert dominant-negative effects by disrupting complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • protein translocation | • ER membrane |
| • translocon complex | • protein transport |
| • ERAD pathway |
Pathways
• Protein processing in endoplasmic reticulum
• ERAD pathway
• Unfolded protein response
Protein Summary
SEC61A1 is a 476-amino acid multi-pass transmembrane protein that forms the central pore of the SEC61 translocon. It interacts with SEC61B and SEC61G to create a channel for nascent proteins to enter the ER lumen. The protein is highly conserved and essential for cellular homeostasis.
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