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  2. SELENOI - selenoprotein I Gene

SELENOI - selenoprotein I Gene

Homo sapiens

Also known as EPT1; SELI; SEPI; SPG81

Gene ID: 85465 | Gene type: protein coding

About SELENOI

Cytogenetic location: 2p23.3 Genomic coordinates (GRCh38): 2:26,346,143-26,395,885 (from NCBI)

This gene has 4 transcripts (splice variants), 211 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 12.3), small intestine (RPKM 10.6) and 25 other tissues.

Summary

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]

SELENOI Products(1)

mRNA Protein Name
NM_033505.4 NP_277040.1 ethanolaminephosphotransferase 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables ethanolaminephosphotransferase activity IDA
IDA: Inferred from direct assay
17132865 GOA
enables ethanolaminephosphotransferase activity IMP
IMP: Inferred from mutant phenotype
28052917 GOA
Biological Process GO Annotation Evidence Reference Source
involved in phosphatidylethanolamine biosynthetic process IDA
IDA: Inferred from direct assay
17132865 GOA
involved in phosphatidylethanolamine biosynthetic process IMP
IMP: Inferred from mutant phenotype
28052917 GOA
Cellular Component GO Annotation Evidence Reference Source
is active in endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
28052917 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SELENOI Protein Structure

CDP-OH_P_transf

CDP-OH_P_transf: CDP-alcohol phosphatidyltransferase (46 - 156)

  • 0
  • 100
  • 200
  • 300
  • 397 a.a.
Protein Preferred Names Protein Names

ethanolaminephosphotransferase 1

ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)

Recombinant SELENOI Proteins

Cat. No. Product Name Accession Purity
HY-P70905 EPT1 Protein, Human (GST) Q9C0D9 (M1-P50) ≥95%

Related Diseases

Diseases Alias
Spastic Paraplegia 81, Autosomal Recessive

SPG81

Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction

Autosomal Recessive Complex Spg Due To Kennedy Pathway Dysfunction

Hereditary Spastic Paraplegia 81

Spastic Paraplegia 81 Autosomal Recessive

Doid:0112349

Childhood Hepatocellular Carcinoma

Pediatric Hepatocellular Carcinoma

Childhood Carcinoma Of Liver Cell

Childhood Hepatoma

Childhood Liver Cell Carcinoma

Pediatric Carcinoma Of Liver Cell

Pediatric Hepatoma

Pediatric Liver Cell Carcinoma

Childhood-Onset Hcc

Childhood-Onset Hepatocellular Carcinoma

Pediatric Hcc

Childhood Liver Cancer

Spastic Paraplegia 83, Autosomal Recessive

SPG83

Hereditary Spastic Paraplegia 83

Spastic Paraplegia 83 Autosomal Recessive

Doid:0112346

Paraplegia, Spastic, Type 83, Autosomal Recessive

Spastic Paraplegia 82, Autosomal Recessive

SPG82

Hereditary Spastic Paraplegia 82

Spastic Paraplegia 82 Autosomal Recessive

Doid:0112343

Adult Hepatocellular Carcinoma

Adult Primary Hepatocellular Carcinoma

Adult Hepatoma

Adult Hcc

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris SELENOI VGNC VGNC:45982
Bos taurus SELENOI VGNC VGNC:97309
Mus musculus SELENOI MGD MGI:107898
Rattus norvegicus SELENOI RGD RGD:1560938
Macaca mulatta SELENOI VGNC VGNC:77335
Felis catus SELENOI VGNC VGNC:81218