SELENOI (Selenoprotein I) Gene: Function, Disease Associations, and Expression
A comprehensive overview of the SELENOI gene, including its genomic context, protein function, tissue expression, and clinical significance.
Gene Information Card
| Symbol | SELENOI |
|---|---|
| Full Name | Selenoprotein I |
| Gene Type | Protein coding |
| Chromosomal Location | 2p23.3 |
| NCBI Gene ID | 85465 ncbi.nlm.nih.gov/gene/85465 |
| Ensembl ID | ENSG00000103351 |
| UniProt ID | Q9C0D9 |
| OMIM ID | 607915 |
| HGNC ID | 29386 |
| Aliases | SELI, hSELI, PTDSS2 |
Description
SELENOI encodes selenoprotein I, a member of the CDP-alcohol phosphatidyltransferase family. It is a transmembrane enzyme localized to the endoplasmic reticulum and Golgi apparatus, involved in phospholipid biosynthesis, specifically the conversion of phosphatidylethanolamine to phosphatidylcholine via methylation. Selenoprotein I contains a selenocysteine residue, which is rare in human proteins. Mutations in SELENOI have been associated with hereditary spastic paraplegia and intellectual disability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary spastic paraplegia (SPG81) | Loss-of-function mutations impair phospholipid synthesis, affecting neuronal membrane integrity and function. | ClinVar, OMIM |
| Intellectual disability | Mutations in SELENOI lead to neurodevelopmental deficits, likely due to disrupted phospholipid metabolism in the brain. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Medium |
| Testis | 8.5 | Medium |
| Kidney | 7.3 | Medium |
| Liver | 5.1 | Low |
| Lung | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 12.0 | High expression, relevant to neuronal function |
| HepG2 (hepatocellular carcinoma) | 6.5 | Moderate expression |
| A549 (lung carcinoma) | 4.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.347G>A (p.Gly116Asp) | Missense | Rare | Loss of function, associated with spastic paraplegia |
| c.1043C>T (p.Pro348Leu) | Missense | Rare | Loss of function, reported in intellectual disability |
| c.1A>G (p.Met1?) | Start codon loss | Very rare | Loss of function, likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Most reported SELENOI mutations are loss-of-function, leading to reduced enzymatic activity and impaired phospholipid synthesis.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SELENOI.
Dominant Negative (DN)
No dominant-negative effects have been described; the disease is inherited in an autosomal recessive manner.
View complete mutation data：
Gene Ontology (GO)
| • CDP-alcohol phosphatidyltransferase activity | • phosphatidylcholine biosynthetic process |
| • endoplasmic reticulum membrane | • Golgi apparatus |
| • selenium binding |
Pathways
• Phospholipid metabolism
• Glycerophospholipid biosynthesis
Protein Summary
Selenoprotein I is a 398-amino acid protein with a selenocysteine at position 267. It is a multi-pass membrane protein localized to the endoplasmic reticulum and Golgi. It catalyzes the transfer of phosphocholine from CDP-choline to diacylglycerol, producing phosphatidylcholine. It also has phosphatidylserine synthase activity. The protein is essential for normal neuronal development and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SELENOI Knockout HEK293 Cell Line | EDJ-KQ10374 | Human | 85465 | Details Get a Quote |
| SELENOI Knockout A-549 Cell Line | EDJ-KQ37717 | Human | 85465 | Details Get a Quote |
| SELENOI Knockout HeLa Cell Line | EDJ-KQ37719 | Human | 85465 | Details Get a Quote |
| SELENOI Knockout HCT 116 Cell Line | EDJ-KQ78004 | Human | 85465 | Details Get a Quote |
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