SELENOI
entrez
85465
canonical
uniprot
Q9C0D9
canonical
ensembl
ENSG00000138018
resolver
ensp
ENSP00000260585
resolver
enst
ENST00000260585
resolver
genesymbol
SELENOI
resolver
genesymbol_syn
EPT1
resolver
genesymbol_syn
KIAA1724
resolver
genesymbol_syn
SELI
resolver
hgnc
HGNC:29361
resolver
uniprot
Q63ZE3
resolver
uniprot_entry
EPT1_HUMAN
resolver
uniprot_sec
Q63ZE3
resolver
amino_acid_sequence
MAGYEYVSPEQLAGFDKYKYSAVDTNPLSLYVMHPFWNTIVKVFPTWLAPNLITFSGFLLVVFNFLLMAYFDPDFYASAPGHKHVPDWVWIVVGILNFVAYTLDGVDGKQARRTNSSTPLGELFDHGLDSWSCVYFVVTVYSIFGRGSTGVSVFVLYLLLWVVLFSFILSHWEKYNTGILFLPWGYDISQVTISFVYIVTAVVGVEAWYEPFLFNFLYRDLFTAMIIGCALCVTLPMSLLNFFRSYKNNTLKLNSVYEAMVPLFSPCLLFILSTAWILWSPSDILELHPRVFYFMVGTAFANSTCQLIVCQMSSTRCPTLNWLLVPLFLVVLVVNLGVASYVESILLYTLTTAFTLAHIHYGVRVVKQLSSHFQIYPFSLRKPNSDULGMEEKNIGL
uniprot
proteins
disease_involvement
DISEASE: Spastic paraplegia 81, autosomal recessive (SPG81) [MIM:618768]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG81 is a complicated form characterized by white matter abnormalities, hypomyelination with progressive white matter loss, delayed motor development, progressive spasticity, and impaired intellectual development and speech delay. Additional features may include bifid uvula, microcephaly, seizures, and variable ocular anomalies. {ECO:0000269|PubMed:28052917, ECO:0000269|PubMed:29500230, ECO:0000269|PubMed:36942482}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.8.1
uniprot
proteins
function
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). 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). {ECO:0000269|PubMed:17132865, ECO:0000269|PubMed:28052917, ECO:0000269|PubMed:29500230}.
uniprot
proteins
mass_dalton
45229
uniprot
proteins
pathway_participation
PATHWAY: Phospholipid metabolism; phosphatidylethanolamine biosynthesis; phosphatidylethanolamine from ethanolamine: step 3/3. {ECO:0000269|PubMed:28052917, ECO:0000269|PubMed:29500230}.
uniprot
proteins
protein_family
CDP-alcohol phosphatidyltransferase class-I family
uniprot
proteins
pubmed
11214970
uniprot
proteins
pubmed
12775843
uniprot
proteins
pubmed
17132865
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
27645994
uniprot
proteins
pubmed
28052917
uniprot
proteins
pubmed
29500230
uniprot
proteins
pubmed
36942482
uniprot
proteins
sequence_length
397
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000305|PubMed:17132865, ECO:0000305|PubMed:28052917}; Multi-pass membrane protein {ECO:0000305|PubMed:28052917}.
uniprot
proteins
transmembrane_region
TRANSMEM 47..69; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 84..103; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 123..145; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 150..172; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 179..201; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 221..243; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 256..278; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 291..310; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 317..339; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 344..366; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins