SEL1L2
SEL1L2 gene encodes a component of the endoplasmic reticulum-associated degradation (ERAD) pathway, involved in protein quality control.
Gene Information Card
| Symbol | SEL1L2 |
|---|---|
| Full Name | SEL1L2 adaptor subunit of the ERAD E3 ubiquitin ligase |
| Gene Type | protein-coding |
| Chromosomal Location | 20p12.1 |
| NCBI Gene ID | 123228 ncbi.nlm.nih.gov/gene/123228 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9H6Z4 |
| OMIM ID | 618454 |
| HGNC ID | 29167 |
| Aliases | SEL1L2, SEL1L2, SEL1-like 2, SEL1L2 adaptor subunit of the ERAD E3 ubiquitin ligase |
Description
SEL1L2 is a protein-coding gene that encodes a component of the HRD1-SEL1L2 E3 ubiquitin ligase complex, which is essential for endoplasmic reticulum-associated degradation (ERAD). This complex targets misfolded proteins for ubiquitination and proteasomal degradation, maintaining cellular protein homeostasis. SEL1L2 is paralogous to SEL1L and is involved in the recognition and retrotranslocation of ERAD substrates.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of ERAD pathway may alter degradation of oncoproteins or tumor suppressors | Limited; expression changes observed in some cancers (COSMIC) |
| Neurodegenerative disorders | Impaired ERAD can lead to accumulation of misfolded proteins | Indirect; based on ERAD pathway function |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 5.4 | Low |
| Heart | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Embryonic kidney cells |
| HeLa | 7.8 | Cervical cancer cells |
| K562 | 6.5 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | <0.1% | Unknown; rare variant (gnomAD) |
| c.567delC (p.Leu189fs) | Frameshift | <0.01% | Likely loss of function (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants likely impair ERAD function, leading to protein accumulation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • endoplasmic reticulum (GO:0005783) | • protein quality control for misfolded or incompletely synthesized proteins (GO:0006515) |
| • ubiquitin-dependent ERAD pathway (GO:0030433) | • ubiquitin-protein transferase activity (GO:0004842) |
Pathways
• Endoplasmic reticulum-associated degradation (ERAD) pathway
• Ubiquitin-proteasome system
Protein Summary
The SEL1L2 protein is a 1037-amino acid transmembrane protein localized to the endoplasmic reticulum. It contains SEL1-like repeats and interacts with HRD1 (SYVN1) to form an E3 ubiquitin ligase complex. This complex mediates the ubiquitination of misfolded ER proteins, targeting them for proteasomal degradation. SEL1L2 is essential for ERAD substrate recognition and retrotranslocation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEL1L2 Knockout HEK293 Cell Line | EDJ-KQ9534 | Human | 80343 | Details Get a Quote |
| SEL1L2 Knockout HeLa Cell Line | EDJ-KQ57332 | Human | 80343 | Details Get a Quote |
| SEL1L2 Knockout A-549 Cell Line | EDJ-KQ65838 | Human | 80343 | Details Get a Quote |
| SEL1L2 Knockout HCT 116 Cell Line | EDJ-KQ74263 | Human | 80343 | Details Get a Quote |
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