Human Gene SELENOI (ENST00000260585.12_7) from GENCODE V47lift37

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Description: selenoprotein I, transcript variant 2 (from RefSeq NR_137633.2)
Gencode Transcript: ENST00000260585.12_7
Gencode Gene: ENSG00000138018.19_18
Transcript (Including UTRs)
Position: hg19 chr2:26,569,011-26,618,753 Size: 49,743 Total Exon Count: 10 Strand: +
Coding Region
Position: hg19 chr2:26,569,101-26,611,971 Size: 42,871 Coding Exon Count: 10

Page Index	Sequence and Links	UniProtKB Comments	Primers	Gene Alleles	RNA-Seq Expression
RNA Structure	Protein Structure	Other Species	GO Annotations	mRNA Descriptions	Pathways
Other Names	Model Information	Methods

Data last updated at UCSC: 2024-08-22 23:36:26

Sequence and Links to Tools and Databases

Genomic Sequence (chr2:26,569,011-26,618,753)			mRNA (may differ from genome)		Protein (397 aa)
Gene Sorter	Genome Browser	Other Species FASTA	VisiGene	Table Schema	AlphaFold
BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards	MGI
OMIM	PubMed	Reactome	UniProtKB	BioGrid CRISPR DB

Comments and Description Text from UniProtKB


	ID: EPT1_HUMAN DESCRIPTION: RecName: Full=Ethanolaminephosphotransferase 1; Short=hEPT1; EC=2.7.8.1; AltName: Full=Selenoprotein I; Short=SelI; FUNCTION: Catalyzes phosphatidylethanolamine biosynthesis from CDP-ethanolamine. It thereby plays a central role in the formation and maintenance of vesicular membranes. Involved in the formation of phosphatidylethanolamine via 'Kennedy' pathway. CATALYTIC ACTIVITY: CDP-ethanolamine + 1,2-diacylglycerol = CMP + a phosphatidylethanolamine. COFACTOR: Magnesium or manganese. BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=1.8 uM for CDP-ethanolamine; Vmax=76.3 pmol/min/mg enzyme with CDP-ethanolamine as substrate; PATHWAY: Phospholipid metabolism; phosphatidylethanolamine biosynthesis; phosphatidylethanolamine from ethanolamine: step 3/3. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential). 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. SIMILARITY: Belongs to the CDP-alcohol phosphatidyltransferase class-I family. SEQUENCE CAUTION: Sequence=BAB21815.1; Type=Erroneous termination; Positions=387; Note=Translated as Sec;

Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

Common Gene Haplotype Alleles


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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)


	Highest median expression: 11.44 RPKM in Brain - Cerebellar Hemisphere Total median expression: 229.93 RPKM View in GTEx track of Genome Browser View at GTEx portal View GTEx Body Map

mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-30.00	90	-0.333	Picture	PostScript	Text
3' UTR	-1812.50	6782	-0.267	Picture	PostScript	Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

Protein Domain and Structure Information

InterPro Domains: Graphical view of domain structure
IPR000462 - CDP-OH_P_trans
IPR014472 - CHOPT

Pfam Domains:
PF01066 - CDP-alcohol phosphatidyltransferase

ModBase Predicted Comparative 3D Structure on Q9C0D9


Front	Top	Side

The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

Orthologous Genes in Other Species

Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	Genome Browser	Genome Browser
Gene Details	Gene Details		Gene Details	Gene Details	Gene Details
Gene Sorter	Gene Sorter		Gene Sorter	Gene Sorter	Gene Sorter
	RGD	Ensembl		WormBase	SGD
				Protein Sequence	Protein Sequence
				Alignment	Alignment

Gene Ontology (GO) Annotations with Structured Vocabulary


	Molecular Function: GO:0004307 ethanolaminephosphotransferase activity GO:0016740 transferase activity GO:0016780 phosphotransferase activity, for other substituted phosphate groups GO:0046872 metal ion binding Biological Process: GO:0006629 lipid metabolic process GO:0006646 phosphatidylethanolamine biosynthetic process GO:0008654 phospholipid biosynthetic process Cellular Component: GO:0005789 endoplasmic reticulum membrane GO:0016020 membrane GO:0016021 integral component of membrane

Descriptions from all associated GenBank mRNAs


	AK095620 - Homo sapiens cDNA FLJ38301 fis, clone FCBBF3017531. AB051511 - Homo sapiens KIAA1724 mRNA for KIAA1724 protein, complete cds. BC021229 - Homo sapiens selenoprotein I, mRNA (cDNA clone MGC:14164 IMAGE:4111329), complete cds. CU676884 - Synthetic construct Homo sapiens gateway clone IMAGE:100018636 5' read SELI mRNA. AB384276 - Synthetic construct DNA, clone: pF1KSDA1724, Homo sapiens SELI gene for ethanolaminephosphotransferase 1, complete cds, without stop codon, in Flexi system. KJ903523 - Synthetic construct Homo sapiens clone ccsbBroadEn_12917 EPT1 gene, encodes complete protein. AB621826 - Homo sapiens EPT1 mRNA for ethanolaminephosphotransferase 1, partial cds, clone: HP08865-RBdS013O12. JD386097 - Sequence 367121 from Patent EP1572962. JD376398 - Sequence 357422 from Patent EP1572962. BC015430 - Homo sapiens, Similar to AT-hook transcription factor AKNA, clone IMAGE:4402513, mRNA. JD059485 - Sequence 40509 from Patent EP1572962. AK092710 - Homo sapiens cDNA FLJ35391 fis, clone SKNSH2000101. JD297214 - Sequence 278238 from Patent EP1572962. AK023242 - Homo sapiens cDNA FLJ13180 fis, clone NT2RP3003989. JD243011 - Sequence 224035 from Patent EP1572962. JD154420 - Sequence 135444 from Patent EP1572962. JD433474 - Sequence 414498 from Patent EP1572962. JD494225 - Sequence 475249 from Patent EP1572962. JD298834 - Sequence 279858 from Patent EP1572962. JD531116 - Sequence 512140 from Patent EP1572962. JD349468 - Sequence 330492 from Patent EP1572962. JD039408 - Sequence 20432 from Patent EP1572962. JD232202 - Sequence 213226 from Patent EP1572962. JD509541 - Sequence 490565 from Patent EP1572962. JD190729 - Sequence 171753 from Patent EP1572962. JD298346 - Sequence 279370 from Patent EP1572962. JD287621 - Sequence 268645 from Patent EP1572962. JD075402 - Sequence 56426 from Patent EP1572962. JD065907 - Sequence 46931 from Patent EP1572962. JD315743 - Sequence 296767 from Patent EP1572962. JD204303 - Sequence 185327 from Patent EP1572962. JD315626 - Sequence 296650 from Patent EP1572962. JD359077 - Sequence 340101 from Patent EP1572962. JD224047 - Sequence 205071 from Patent EP1572962. JD315102 - Sequence 296126 from Patent EP1572962. JD556621 - Sequence 537645 from Patent EP1572962. JD368903 - Sequence 349927 from Patent EP1572962. JD558057 - Sequence 539081 from Patent EP1572962. JD305095 - Sequence 286119 from Patent EP1572962. JD346315 - Sequence 327339 from Patent EP1572962. JD548678 - Sequence 529702 from Patent EP1572962. JD088729 - Sequence 69753 from Patent EP1572962. JD345011 - Sequence 326035 from Patent EP1572962. JD509038 - Sequence 490062 from Patent EP1572962. JD561052 - Sequence 542076 from Patent EP1572962. JD068709 - Sequence 49733 from Patent EP1572962. AK091340 - Homo sapiens cDNA FLJ34021 fis, clone FCBBF2002928. AX746921 - Sequence 446 from Patent EP1308459. JD566032 - Sequence 547056 from Patent EP1572962. JD539409 - Sequence 520433 from Patent EP1572962. JD468727 - Sequence 449751 from Patent EP1572962. JD430995 - Sequence 412019 from Patent EP1572962. JD532303 - Sequence 513327 from Patent EP1572962. JD556241 - Sequence 537265 from Patent EP1572962. JD522151 - Sequence 503175 from Patent EP1572962. JD275538 - Sequence 256562 from Patent EP1572962. JD208377 - Sequence 189401 from Patent EP1572962. JD188123 - Sequence 169147 from Patent EP1572962. JD090426 - Sequence 71450 from Patent EP1572962. JD238499 - Sequence 219523 from Patent EP1572962. JD066793 - Sequence 47817 from Patent EP1572962. JD093044 - Sequence 74068 from Patent EP1572962. JD296382 - Sequence 277406 from Patent EP1572962. JD281955 - Sequence 262979 from Patent EP1572962. JD230000 - Sequence 211024 from Patent EP1572962. JD452571 - Sequence 433595 from Patent EP1572962. JD366169 - Sequence 347193 from Patent EP1572962. JD379003 - Sequence 360027 from Patent EP1572962. JD122278 - Sequence 103302 from Patent EP1572962. JD237754 - Sequence 218778 from Patent EP1572962. JD042825 - Sequence 23849 from Patent EP1572962. JD402658 - Sequence 383682 from Patent EP1572962. JD049283 - Sequence 30307 from Patent EP1572962. JD551091 - Sequence 532115 from Patent EP1572962. JD250563 - Sequence 231587 from Patent EP1572962. JD183166 - Sequence 164190 from Patent EP1572962. JD459715 - Sequence 440739 from Patent EP1572962. JD260086 - Sequence 241110 from Patent EP1572962. JD153958 - Sequence 134982 from Patent EP1572962. JD157951 - Sequence 138975 from Patent EP1572962. JD424417 - Sequence 405441 from Patent EP1572962. JD544071 - Sequence 525095 from Patent EP1572962. JD369003 - Sequence 350027 from Patent EP1572962. JD220514 - Sequence 201538 from Patent EP1572962. JD423271 - Sequence 404295 from Patent EP1572962. JD065379 - Sequence 46403 from Patent EP1572962. JD237914 - Sequence 218938 from Patent EP1572962. JD244310 - Sequence 225334 from Patent EP1572962. JD562361 - Sequence 543385 from Patent EP1572962.

Biochemical and Signaling Pathways


	BioCyc Knowledge Library PWY-7782 - plasmalogen biosynthesis PWY4FS-6 - phosphatidylethanolamine biosynthesis II Reactome (by CSHL, EBI, and GO) Protein Q9C0D9 (Reactome details) participates in the following event(s): R-HSA-1482962 CDP-ETA and DAG are converted to PE by CEPT1/EPT1 R-HSA-1483213 Synthesis of PE R-HSA-1483206 Glycerophospholipid biosynthesis R-HSA-1483257 Phospholipid metabolism R-HSA-556833 Metabolism of lipids R-HSA-1430728 Metabolism

Other Names for This Gene


	Alternate Gene Symbols: ENST00000260585.1, ENST00000260585.10, ENST00000260585.11, ENST00000260585.2, ENST00000260585.3, ENST00000260585.4, ENST00000260585.5, ENST00000260585.6, ENST00000260585.7, ENST00000260585.8, ENST00000260585.9, EPT1 , EPT1_HUMAN, KIAA1724 , NR_137633, Q63ZE3, Q9C0D9, SELENOI , SELI , uc317gkx.1, uc317gkx.2 UCSC ID: ENST00000260585.12_7 RefSeq Accession: NM_033505.4 Protein: Q9C0D9 (aka EPT1_HUMAN)

Gene Model Information


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Methods, Credits, and Use Restrictions


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