Seroatlas · Human Serome Atlas

SELENOI

Ethanolaminephosphotransferase 1

Also known as: EPT1, EPT1_HUMAN, KIAA1724, SELI, SEPI

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9C0D9
Gene: SELENOI
Ensembl: ENSG00000138018
Chromosome: 2
Canonical length: 397 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

397 residues, UniProt reviewed canonical sequence.

>Q9C0D9|SELENOI
     1  MAGYEYVSPE QLAGFDKYKY SAVDTNPLSL YVMHPFWNTI VKVFPTWLAP NLITFSGFLL
    61  VVFNFLLMAY FDPDFYASAP GHKHVPDWVW IVVGILNFVA YTLDGVDGKQ ARRTNSSTPL
   121  GELFDHGLDS WSCVYFVVTV YSIFGRGSTG VSVFVLYLLL WVVLFSFILS HWEKYNTGIL
   181  FLPWGYDISQ VTISFVYIVT AVVGVEAWYE PFLFNFLYRD LFTAMIIGCA LCVTLPMSLL
   241  NFFRSYKNNT LKLNSVYEAM VPLFSPCLLF ILSTAWILWS PSDILELHPR VFYFMVGTAF
   301  ANSTCQLIVC QMSSTRCPTL NWLLVPLFLV VLVVNLGVAS YVESILLYTL TTAFTLAHIH
   361  YGVRVVKQLS SHFQIYPFSL RKPNSDULGM EEKNIGL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SELENOI can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 10
Mean surface accessibility (rSASA): 0
Highest tissue expression: 22 nTPM

Expression across tissuesHPA

Tissue

liver: 22 nTPM
small intestine: 17 nTPM
skin: 17 nTPM
cerebral cortex: 16 nTPM
parathyroid gland: 16 nTPM
cerebellum: 12 nTPM

Single-cell type

retinal pigment epithelial cells: 128 nCPM
enterocytes: 121 nCPM
suprabasal keratinocytes: 117 nCPM
renal collecting duct intercalated cells: 114 nCPM
endometrial ciliated cells: 95 nCPM
urothelial cells: 94 nCPM

Immune cell

memory B-cell: 2.5 nTPM
naive CD8 T-cell: 2 nTPM
T-reg: 1.8 nTPM
plasmacytoid DC: 1.3 nTPM
memory CD8 T-cell: 1.2 nTPM
naive CD4 T-cell: 1.2 nTPM

Brain region

cerebellum: 35 nTPM
cerebral cortex: 33 nTPM
white matter: 32 nTPM
spinal cord: 32 nTPM
hypothalamus: 31 nTPM
pons: 30 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SELENOI.

Disease | AllUniProt

Conditions SELENOI is implicated in, by any mechanism.

Spastic paraplegia 81, autosomal recessive (SPG81) MIM:618768

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 74 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Spastic paraplegia 81, autosomal recessive

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.44
gnomAD pLI: 0.64
DepMap mean gene effect: -0.07
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SELENOI as an antibody target. Whether an autoantibody or antibody against SELENOI could matter depends on whether native SELENOI is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SELENOI is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SELENOI as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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