EPT1 ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific) [Homo sapiens] - Gene

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Summary

Official Symbol: EPT1provided by HGNC
Official Full Name: ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)provided by HGNC
Primary source: HGNC:29361
See related: Ensembl:ENSG00000138018; HPRD:07616; MIM:607915; Vega:OTTHUMG00000151931
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SELI; SEPI
Summary: This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 2p23.3

Sequence :: Chromosome: 2; NC_000002.11 (26568954..26618759)

See EPT1 in Epigenomics, MapViewer

Chromosome 2 - NC_000002.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: l-selectin gene polymorphisms and complications of sickle cell disease.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
Q9C0D9	Q01844	EWSR1		HPRD	PubMed
BioGRID:124549	BioGRID:108431	EWSR1		BioGRID	PubMed	Two-hybrid

Function	Evidence Code	Pubs
ethanolaminephosphotransferase activity	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info
phosphotransferase activity, for other substituted phosphate groups	IEA Inferred from Electronic Annotation more info
transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
phospholipid biosynthetic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
integral to membrane	IEA Inferred from Electronic Annotation more info
membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: ethanolaminephosphotransferase 1

Names: ethanolaminephosphotransferase 1; hEPT1; selenoprotein I; ethanolaminephosphotransferase1

NP_277040.1

EC 2.7.8.1

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_033505.2 → NP_277040.1 ethanolaminephosphotransferase 1

Status: REVIEWED

Source sequence(s)

AB051511, AC010896, AK091340, AK092710, AK095620, BE963795, DA619246, DA905145, EH350337

Consensus CDS

CCDS46240.1

UniProtKB/Swiss-Prot

Q9C0D9

Related

ENSP00000260585, OTTHUMP00000200812, ENST00000260585, OTTHUMT00000324484

Conserved Domains (1) summary

cl00453
Location:6 – 301
Blast Score: 366

CDP-OH_P_transf; CDP-alcohol phosphatidyltransferase

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000002.11 Reference GRCh37.p5 Primary Assembly

Range

26568954..26618759

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000134.1 Alternate HuRef

Range

26308204..26357625

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC010896.15	AAY14646.1
genomic	CH471053.2	EAX00690.1
		EAX00691.1
		EAX00692.1
		EAX00693.1
mRNA	AB051511.1	BAB21815.1
mRNA	AB621826.1	BAK64161.1
mRNA	AK023242.1	None
mRNA	AK091340.1	None
mRNA	AK092710.1	None
mRNA	AK095620.1	None
mRNA	BC021229.2	AAH21229.1
mRNA	BE963795.2	None
mRNA	BF669898.1	None
mRNA	BK001426.1	DAA01514.1
mRNA	DA619246.1	None
mRNA	DA905145.1	None
mRNA	EH350337.1	None