SELENOK: Selenoprotein K (SELENOK) Gene
Comprehensive genomic and functional analysis of SELENOK, a selenoprotein involved in calcium regulation and immune response.
Gene Information Card
| Symbol | SELENOK |
|---|---|
| Full Name | selenoprotein K |
| Gene Type | protein-coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 58515 ncbi.nlm.nih.gov/gene/58515 |
| Ensembl ID | ENSG00000113810 |
| UniProt ID | Q9Y6D0 |
| OMIM ID | 607918 |
| HGNC ID | 30399 |
| Aliases | SELK, HSPC297, MGC117188 |
Description
SELENOK encodes selenoprotein K, a small transmembrane selenoprotein localized to the endoplasmic reticulum (ER). It contains a selenocysteine residue encoded by the UGA codon. SELENOK is involved in calcium flux regulation during immune cell activation, particularly in T cells and macrophages, and plays a role in ER-associated degradation (ERAD) of misfolded proteins. It also contributes to oxidative stress protection and palmitoylation of certain proteins.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiovascular disease | SELENOK deficiency impairs calcium signaling in macrophages, promoting inflammation and atherosclerosis | PMID: 21317433 |
| Infectious diseases (e.g., viral infections) | SELENOK modulates immune response; altered expression affects host defense | PMID: 25954028 |
| Cancer (potential) | Dysregulation of SELENOK may affect ER stress and apoptosis in tumor cells | PMID: 28878320 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Spleen | 18.3 | Medium |
| Lymph node | 15.7 | Medium |
| Liver | 8.2 | Low |
| Brain | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.0 | Embryonic kidney cells |
| Jurkat | 20.5 | T-cell line |
| THP-1 | 22.1 | Monocytic leukemia line |
| HeLa | 11.3 | Cervical cancer cells |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.94G>A (p.Gly32Arg) | Missense | <0.01% | Unknown functional impact |
| c.202C>T (p.Arg68Cys) | Missense | <0.01% | Potential loss of selenocysteine incorporation |
Mutation functional classification
Loss of Function (LOF)
Reduced selenoprotein K expression or impaired selenocysteine insertion may disrupt ER calcium homeostasis and immune signaling.
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) | • calcium ion binding (GO:0005509) |
| • immune response (GO:0006955) | • protein quality control for misfolded proteins (GO:0006515) |
| • integral component of membrane (GO:0016021) |
Pathways
• Endoplasmic reticulum-associated degradation (ERAD)
• Calcium signaling pathway
• Selenocysteine biosynthesis
Protein Summary
Selenoprotein K is a 94-amino acid transmembrane protein anchored in the ER membrane. It contains a selenocysteine residue at position 92. The protein interacts with the ERAD machinery and is essential for efficient degradation of misfolded proteins. It also regulates calcium flux by modulating the activity of the sarco/endoplasmic reticulum calcium ATPase (SERCA) and inositol trisphosphate receptor (IP3R). SELENOK is highly expressed in immune tissues and cells, where it supports optimal immune responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SELENOK Knockout HEK293 Cell Line | EDJ-KQ15216 | Human | 58515 | Details Get a Quote |
| SELENOK Knockout A-549 Cell Line | EDJ-KQ45871 | Human | 58515 | Details Get a Quote |
| SELENOK Knockout HCT 116 Cell Line | EDJ-KQ45872 | Human | 58515 | Details Get a Quote |
| SELENOK Knockout HeLa Cell Line | EDJ-KQ45873 | Human | 58515 | Details Get a Quote |
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