SELENOI

Chr 2p23.3

selenoprotein I

Aliases:: KIAA1724, SELI, SEPI
MANE:: ENST00000260585.12

OMIM: 607915 ↗NCBI: 85465 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

SELENOI · Q9C0D9

Mean pLDDT

Not published

AlphaFold has not published a prediction for this sequence. This is common for very long proteins.

Confidence breakdown

Check AlphaFold DB

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Clefting
Hereditary neuropathy
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability

Disease associations (Open Targets)

spastic paraplegia 81, autosomal recessive
0.64
diabetes mellitus
0.26
response to statin
0.22
type 2 diabetes mellitus
0.22
severe acute respiratory syndrome
0.15
COVID-19
0.15
alcohol drinking
0.11
amyotrophic lateral sclerosis
0.06
atrial fibrillation
0.05
cancer
0.03

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Ethanolaminephosphotransferase 1

Ethanolaminephosphotransferase that catalyzes the transfer of phosphoethanolamine (PE) from CDP-ethanolamine to lipid acceptors, the final step in the synthesis of PE via the 'Kennedy' pathway (PubMed:17132865, PubMed:28052917, PubMed:29500230). PE is the second most abundant phospholipid of membranes in mammals and is involved in various membrane-related cellular processes (PubMed:17132865). The enzyme is critical for the synthesis of several PE species and also catalyzes the synthesis of plasmanyl-PE, a lipid required for proper myelination and neurodevelopment, from 1-alkyl-2-acylglycerol (PubMed:29500230)