Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
85465
Gene name Gene Name - the full gene name approved by the HGNC.
Selenoprotein I
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SELENOI
Synonyms (NCBI Gene) Gene synonyms aliases
EPT1, SELI, SEPI, SPG81
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SPG81
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p23.3
Summary Summary of gene provided in NCBI Entrez 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, whic
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs933233143 G>A,C Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs1572337800 A>G Pathogenic Splice acceptor variant, intron variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT715558 hsa-miR-382-3p HITS-CLIP 19536157
MIRT715557 hsa-miR-496 HITS-CLIP 19536157
MIRT159073 hsa-miR-579-3p HITS-CLIP 19536157
MIRT159092 hsa-miR-664b-3p HITS-CLIP 19536157
MIRT703907 hsa-miR-8080 HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004307 Function Ethanolaminephosphotransferase activity IBA 21873635
GO:0004307 Function Ethanolaminephosphotransferase activity IDA 17132865
GO:0004307 Function Ethanolaminephosphotransferase activity IMP 28052917, 29500230
GO:0005789 Component Endoplasmic reticulum membrane IBA 21873635
GO:0005789 Component Endoplasmic reticulum membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607915 29361 ENSG00000138018
Protein
UniProt ID Q9C0D9
Protein name Ethanolaminephosphotransferase 1 (hEPT1) (EC 2.7.8.1) (Selenoprotein I) (SelI)
Protein function 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).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01066 CDP-OH_P_transf 48 129 CDP-alcohol phosphatidyltransferase Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Abundant in brain, placenta, liver and pancreas, followed by heart, skeletal muscle, lung and kidney. In brain it is strongly expressed in cerebellum, followed by the occipital pole and the frontal lobe. {ECO:0000269|
Sequence
MAGYEYVSPEQLAGFDKYKYSAVDTNPLSLYVMHPFWNTIVKVFPTWLAPNLITFSGFLL
VVFNFLLMAYFDPDFYASAPGHKHVPDWVWIVVGILNFVAYTLDGVDGKQARRTNSSTPL
GELFDHGLD
SWSCVYFVVTVYSIFGRGSTGVSVFVLYLLLWVVLFSFILSHWEKYNTGIL
FLPWGYDISQVTISFVYIVTAVVGVEAWYEPFLFNFLYRDLFTAMIIGCALCVTLPMSLL
NFFRSYKNNTLKLNSVYEAMVPLFSPCLLFILSTAWILWSPSDILELHPRVFYFMVGTAF
ANSTCQLIVCQMSSTRCPTLNWLLVPLFLVVLVVNLGVASYVESILLYTLTTAFTLAHIH
YGVRVVKQLSSHFQIYPFSLRKPNSDULGMEEKNIGL
Sequence length 397
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Phosphonate and phosphinate metabolism
Glycerophospholipid metabolism
Ether lipid metabolism
Metabolic pathways
  Synthesis of PE
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537 29212778
Developmental delay Gross motor development delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Mental retardation Mild Mental Retardation rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Microcephaly Microcephaly rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019
View all (280 more)
Unknown
Disease term Disease name Evidence References Source
Spastic Paraplegia spastic paraplegia 81, autosomal recessive GenCC
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
Blindness Associate 29500230
Bulbo Spinal Atrophy X Linked Associate 28052917
Demyelinating Diseases Associate 29500230
Heredodegenerative Disorders Nervous System Associate 28052917
Lung Neoplasms Associate 33408336
Microphthalmia Syndromic 10 Associate 29500230
Seizures Associate 29500230
Spastic Paraplegia Hereditary Associate 28052917, 29500230