SELENOI - selenoprotein I Gene
Also Known as EPT1; SELI; SEPI; SPG81
Species: Homo sapiens
About SELENOI
This gene has 4 transcripts (splice variants), 211 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 12.3), small intestine (RPKM 10.6) and 25 other tissues.
Summary
The multi-pass transmembrane protein encoded by this gene belongs to the CDP-alcohol phosphatidyltransferase class-I family. It catalyzes the transfer of phosphoethanolamine from CDP-ethanolamine to diacylglycerol to produce phosphatidylethanolamine, which is involved in the formation and maintenance of vesicular membranes, regulation of lipid metabolism, and protein folding. This protein is a selenoprotein, containing the rare selenocysteine (Sec) amino acid at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2016]
SELENOI Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_033505.4 | NP_277040.1 | ethanolaminephosphotransferase 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables ethanolaminephosphotransferase activity |
IDA
IDA: Inferred from direct assay
|
17132865 | GOA |
| enables ethanolaminephosphotransferase activity |
IMP
IMP: Inferred from mutant phenotype
|
28052917 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in phosphatidylethanolamine biosynthetic process |
IDA
IDA: Inferred from direct assay
|
17132865 | GOA |
| involved in phosphatidylethanolamine biosynthetic process |
IMP
IMP: Inferred from mutant phenotype
|
28052917 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| is active in endoplasmic reticulum membrane |
IDA
IDA: Inferred from direct assay
|
28052917 | GOA |
SELENOI Protein Structure
CDP-OH_P_transf: CDP-alcohol phosphatidyltransferase (46 - 156)
- 0
- 100
- 200
- 300
- 397 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
ethanolaminephosphotransferase 1 |
|
Recombinant SELENOI Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P70905 | EPT1 Protein, Human (GST) | Q9C0D9 (M1-P50) | ≥ 95%, as determined by reducing SDS-PAGE. |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Spastic Paraplegia 81, Autosomal Recessive |
|
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| Childhood Hepatocellular Carcinoma |
|
|
| Spastic Paraplegia 83, Autosomal Recessive |
|
|
| Spastic Paraplegia 82, Autosomal Recessive |
|
|
| Adult Hepatocellular Carcinoma |
|
|
| Microcephaly |
|
|
| Hereditary Spastic Paraplegia |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | SELENOI | VGNC | VGNC:45982 |
| Bos taurus | SELENOI | VGNC | VGNC:97309 |
| Mus musculus | SELENOI | MGD | MGI:107898 |
| Rattus norvegicus | SELENOI | RGD | RGD:1560938 |
| Macaca mulatta | SELENOI | VGNC | VGNC:77335 |
| Felis catus | SELENOI | VGNC | VGNC:81218 |
| Others | SELENOI | NCBI |