SEL1L3
SEL1L3 gene encodes a protein involved in endoplasmic reticulum-associated degradation (ERAD) and protein quality control.
Gene Information Card
| Symbol | SEL1L3 |
|---|---|
| Full Name | SEL1L family member 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 4p15.2 |
| NCBI Gene ID | 23231 ncbi.nlm.nih.gov/gene/23231 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q9BZQ8 |
| OMIM ID | 617720 |
| HGNC ID | 29185 |
| Aliases | SEL1L3, SEL1L2, SEL1L family member 3 |
Description
SEL1L3 (SEL1L family member 3) is a protein-coding gene located on chromosome 4p15.2. It encodes a component of the endoplasmic reticulum-associated degradation (ERAD) pathway, specifically involved in the recognition and retrotranslocation of misfolded proteins from the ER to the cytoplasm for proteasomal degradation. SEL1L3 is homologous to SEL1L and SEL1L2, and its expression is implicated in cellular stress responses and cancer biology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of ERAD pathway may promote tumorigenesis by altering protein homeostasis and stress responses. | COSMIC database reports mutations in SEL1L3 across multiple cancer types. |
| Neurodegenerative disorders | Impaired ERAD function can lead to accumulation of misfolded proteins, contributing to neurodegeneration. | Inferred from pathway involvement; direct evidence limited. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 5.2 | Low |
| Brain | 3.8 | Low |
| Breast | 4.1 | Low |
| Colon | 6.0 | Medium |
| Kidney | 4.5 | Low |
| Liver | 7.3 | Medium |
| Lung | 5.8 | Medium |
| Pancreas | 3.2 | Low |
| Prostate | 4.9 | Low |
| Skin | 3.5 | Low |
| Testis | 2.1 | Low |
| Thyroid | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 6.5 | Embryonic kidney cells |
| HeLa | 5.8 | Cervical cancer cells |
| K562 | 4.2 | Leukemia cells |
| MCF7 | 5.0 | Breast cancer cells |
| HepG2 | 7.1 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Lys412Glu) | Missense | <0.1% in COSMIC | Unknown functional impact |
| c.567C>T (p.Arg189Trp) | Missense | <0.1% in COSMIC | Unknown functional impact |
| c.890_891insA (p.Gln297fs) | Frameshift | <0.1% in COSMIC | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Gln297fs) likely result in truncated protein and loss of ERAD function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • endoplasmic reticulum (GO:0005783) | • ubiquitin-dependent protein catabolic process (GO:0006511) |
| • ER-associated ubiquitin-dependent protein catabolic process (GO:0030433) | • ERAD pathway (GO:0036503) |
| • unfolded protein binding (GO:0051082) |
Pathways
• Endoplasmic reticulum-associated degradation (ERAD) pathway
• Unfolded protein response (UPR)
Protein Summary
The SEL1L3 protein is a 1036-amino acid transmembrane protein localized to the endoplasmic reticulum. It contains multiple SEL1-like repeats and is predicted to function as a scaffold or adaptor in the ERAD complex, facilitating substrate recognition and retrotranslocation. Its expression is moderate in tissues such as colon and liver, and it is upregulated in certain cancer cell lines.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEL1L3 Knockout HEK293 Cell Line | EDJ-KQ7904 | Human | 23231 | Details Get a Quote |
| SEL1L3 Knockout A-549 Cell Line | EDJ-KQ33518 | Human | 23231 | Details Get a Quote |
| SEL1L3 Knockout HCT 116 Cell Line | EDJ-KQ33519 | Human | 23231 | Details Get a Quote |
| SEL1L3 Knockout HeLa Cell Line | EDJ-KQ33520 | Human | 23231 | Details Get a Quote |
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