SELENOI (selenoprotein I)

2018-02-01  

Identity

HGNC
SELENOI
LOCATION
2p23.3
LOCUSID
85465
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
369424822023A novel homozygous synonymous splicing variant in SELENOI gene causes spastic paraplegia 81.1
369635012023Biology and Roles in Diseases of Selenoprotein I Characterized by Ethanolamine Phosphotransferase Activity and Antioxidant Potential.1
369424822023A novel homozygous synonymous splicing variant in SELENOI gene causes spastic paraplegia 81.1
369635012023Biology and Roles in Diseases of Selenoprotein I Characterized by Ethanolamine Phosphotransferase Activity and Antioxidant Potential.1
360075762022Selenoprotein I (selenoi) as a critical enzyme in the central nervous system.4
360075762022Selenoprotein I (selenoi) as a critical enzyme in the central nervous system.4
346818342021Roles for Selenoprotein I and Ethanolamine Phospholipid Synthesis in T Cell Activation.10
346818342021Roles for Selenoprotein I and Ethanolamine Phospholipid Synthesis in T Cell Activation.10
321429582020Accessing the transcriptional status of selenoproteins in skin cancer-derived cell lines.3
321429582020Accessing the transcriptional status of selenoproteins in skin cancer-derived cell lines.3
295002302018EPT1 (selenoprotein I) is critical for the neural development and maintenance of plasmalogen in humans.61
295002302018EPT1 (selenoprotein I) is critical for the neural development and maintenance of plasmalogen in humans.61
280529172017A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.53
291017472017Cloning, intracellular localization, and expression of the mammalian selenocysteine-containing protein SELENOI (SelI) in tumor cell lines.5
280529172017A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.53

Citation

Dessen P

SELENOI (selenoprotein I)

Atlas Genet Cytogenet Oncol Haematol. 2018-02-01

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