SEM1 Gene - SEM1, 26S Proteasome Complex Subunit
Essential component of the 26S proteasome involved in protein degradation and cellular homeostasis
Gene Information Card
| Symbol | SEM1 |
|---|---|
| Full Name | SEM1, 26S Proteasome Complex Subunit |
| Gene Type | Protein coding |
| Chromosomal Location | 7q21.13 |
| NCBI Gene ID | 7979 ncbi.nlm.nih.gov/gene/7979 |
| Ensembl ID | ENSG00000127955 |
| UniProt ID | P60842 |
| OMIM ID | 607857 |
| HGNC ID | 10720 |
| Aliases | DSS1, SHFM1, SHFD1 |
Description
The SEM1 gene encodes a subunit of the 26S proteasome, a multicatalytic proteinase complex responsible for ubiquitin-dependent protein degradation. This subunit is essential for the assembly and stability of the proteasome regulatory particle, playing a critical role in cellular protein homeostasis, cell cycle regulation, and signal transduction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Split-hand/foot malformation 1 (SHFM1) | Loss of SEM1 function disrupts proteasome assembly, leading to impaired protein degradation and developmental defects in limb formation. | OMIM; PMID: 21549625 |
| Proteasome-associated autoinflammatory syndrome (PRAAS) | Mutations in SEM1 cause proteasome dysfunction, resulting in accumulation of ubiquitinated proteins and chronic inflammation. | OMIM; PMID: 25915512 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Brain | 8.7 | Medium |
| Liver | 7.1 | Low |
| Heart | 6.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.3 | High expression |
| HeLa | 11.0 | Medium expression |
| K562 | 9.5 | Medium expression |
| HepG2 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.320_321del (p.Glu107fs) | Frameshift | <0.01% | Premature truncation, loss of function |
| c.497G>A (p.Arg166Gln) | Missense | <0.01% | Impaired proteasome assembly |
Mutation functional classification
Loss of Function (LOF)
Most SEM1 mutations are loss-of-function, leading to proteasome instability and reduced protein degradation capacity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by incorporating into proteasome complexes and disrupting assembly.
View complete mutation data：
Gene Ontology (GO)
Pathways
• hsa03050 - Proteasome
• R-HSA-983168 - Antigen processing: Ubiquitination & Proteasome degradation
Protein Summary
The SEM1 protein (also known as DSS1) is a small, highly conserved subunit of the 19S regulatory particle of the 26S proteasome. It is essential for the assembly and stability of the proteasome lid subcomplex. The protein interacts with multiple proteasome subunits and is required for efficient ubiquitin-dependent protein degradation. Loss of SEM1 function leads to proteasome dysfunction and is associated with developmental disorders and autoinflammatory syndromes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEM1 Knockout HEK293 Cell Line | EDJ-KQ50733 | Human | 7979 | Details Get a Quote |
| SEM1 Knockout HeLa Cell Line | EDJ-KQ54811 | Human | 7979 | Details Get a Quote |
| SEM1 Knockout A-549 Cell Line | EDJ-KQ63300 | Human | 7979 | Details Get a Quote |
| SEM1 Knockout HCT 116 Cell Line | EDJ-KQ71768 | Human | 7979 | Details Get a Quote |
