SELENOP: Selenoprotein P – Selenium Transport and Antioxidant Defense Gene
Comprehensive biomedical reference for SELENOP, encoding selenoprotein P, a key selenium transporter and antioxidant protein.
Gene Information Card
| Symbol | SELENOP |
|---|---|
| Full Name | Selenoprotein P |
| Gene Type | Protein coding |
| Chromosomal Location | 5p12 |
| NCBI Gene ID | 6414 ncbi.nlm.nih.gov/gene/6414 |
| Ensembl ID | ENSG00000150787 |
| UniProt ID | P49908 |
| OMIM ID | 601484 |
| HGNC ID | 10720 |
| Aliases | SeP, SELP, SEPP1 |
Description
SELENOP encodes selenoprotein P, a plasma glycoprotein that contains multiple selenocysteine residues. It functions primarily as a selenium transporter, delivering selenium from the liver to peripheral tissues, and also exhibits antioxidant properties by reducing phospholipid hydroperoxides. The protein is essential for maintaining selenium homeostasis and protecting cells from oxidative stress.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Selenium deficiency | Impaired selenium transport due to reduced SELENOP expression leads to systemic selenium depletion. | ClinVar, OMIM |
| Progressive encephalopathy with or without lipodystrophy (PELD) | Biallelic loss-of-function mutations in SELENOP disrupt selenium delivery to the brain, causing neurodegeneration. | OMIM #618118, ClinVar |
| Type 2 diabetes | Low SELENOP levels are associated with insulin resistance and impaired glucose metabolism. | NCBI Gene, literature |
| Cardiovascular disease | Reduced SELENOP correlates with increased oxidative stress and endothelial dysfunction. | NCBI Gene, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 42.3 | High |
| Kidney | 18.7 | Medium |
| Testis | 15.2 | Medium |
| Brain | 8.1 | Low |
| Heart | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 35.1 | Hepatocyte cell line, high expression |
| HEK293 | 12.5 | Embryonic kidney cells, moderate expression |
| SH-SY5Y | 4.8 | Neuroblastoma cells, low expression |
| Caco-2 | 9.3 | Colorectal adenocarcinoma cells, moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1000C>T (p.Arg334*) | Nonsense | Rare | Loss of function; associated with PELD |
| c.1285G>A (p.Gly429Arg) | Missense | Rare | Impaired selenium transport; reported in ClinVar |
| c.1A>G (p.Met1?) | Start loss | Very rare | Complete loss of protein; pathogenic |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent protein, impairing selenium transport and antioxidant function.
Gain of Function (GOF)
No gain-of-function mutations reported for SELENOP.
Dominant Negative (DN)
No dominant-negative mutations described; disease is typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • selenium binding (GO:0008430) | • glutathione peroxidase activity (GO:0004602) |
| • antioxidant activity (GO:0016209) | • selenium transport (GO:0015684) |
| • response to selenium ion (GO:0046688) | • extracellular region (GO:0005576) |
Pathways
• Selenium metabolism and transport (Reactome: R-HSA-2408522)
• Antioxidant activity (Reactome: R-HSA-3299685)
Protein Summary
Selenoprotein P is a 51 kDa plasma protein containing 10 selenocysteine residues. It is primarily synthesized in the liver and secreted into the bloodstream, where it delivers selenium to target tissues via receptor-mediated endocytosis (e.g., LRP8). The protein also possesses phospholipid hydroperoxide glutathione peroxidase activity, contributing to cellular antioxidant defense. Its structure includes a selenium-rich C-terminal domain essential for transport and a redox-active N-terminal domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SELENOP Knockout HEK293 Cell Line | EDJ-KQ5736 | Human | 6414 | Details Get a Quote |
| SELENOP Knockout HCT 116 Cell Line | EDJ-KQ29126 | Human | 6414 | Details Get a Quote |
| SELENOP Knockout HeLa Cell Line | EDJ-KQ29127 | Human | 6414 | Details Get a Quote |
| SELENOP Knockout A-549 Cell Line | EDJ-KQ62935 | Human | 6414 | Details Get a Quote |
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