SELENOI (selenoprotein I)

2018-02-01  

Identity

HGNC
LOCATION
2p23.3
LOCUSID
ALIAS
EPT1,SELI,SEPI,SPG81

Other Information

Locus ID:

NCBI: 85465
MIM: 607915
HGNC: 29361
Ensembl: ENSG00000138018

Variants:

dbSNP: 85465
ClinVar: 85465
TCGA: ENSG00000138018
COSMIC: SELENOI

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138018ENST00000260585Q9C0D9
ENSG00000138018ENST00000442141C9JEZ2
ENSG00000138018ENST00000447170C9JAG1
ENSG00000138018ENST00000613142A0A087WW58

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Phosphonate and phosphinate metabolismKEGGko00440
Glycerophospholipid metabolismKEGGko00564
Ether lipid metabolismKEGGko00565
Phosphonate and phosphinate metabolismKEGGhsa00440
Glycerophospholipid metabolismKEGGhsa00564
Ether lipid metabolismKEGGhsa00565
Metabolic pathwaysKEGGhsa01100
Phosphatidylethanolamine (PE) biosynthesis, ethanolamine => PEKEGGhsa_M00092
Phosphatidylethanolamine (PE) biosynthesis, ethanolamine => PEKEGGM00092
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206
Synthesis of PEREACTOMER-HSA-1483213

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
280529172017A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.16
295002302018EPT1 (selenoprotein I) is critical for the neural development and maintenance of plasmalogen in humans.11
291017472017Cloning, intracellular localization, and expression of the mammalian selenocysteine-containing protein SELENOI (SelI) in tumor cell lines.1

Citation

Dessen P

SELENOI (selenoprotein I)

Atlas Genet Cytogenet Oncol Haematol. 2018-02-01

Online version: http://atlasgeneticsoncology.org/gene/57366/selenoi