SELENOI selenoprotein I [Homo sapiens (human)] - Gene

Summary

Official Symbol: SELENOIprovided by HGNC
Official Full Name: selenoprotein Iprovided by HGNC
Primary source: HGNC:HGNC:29361
See related: Ensembl:ENSG00000138018 MIM:607915; AllianceGenome:HGNC:29361
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: EPT1; SELI; SEPI; SPG81
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]
Expression: Ubiquitous expression in brain (RPKM 12.3), small intestine (RPKM 10.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p23.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (26346143..26395885)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (26384823..26434484)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (26569011..26618753)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Biology and Roles in Diseases of Selenoprotein I Characterized by Ethanolamine Phosphotransferase Activity and Antioxidant Potential.
Title: Biology and Roles in Diseases of Selenoprotein I Characterized by Ethanolamine Phosphotransferase Activity and Antioxidant Potential.
A novel homozygous synonymous splicing variant in SELENOI gene causes spastic paraplegia 81.
Title: A novel homozygous synonymous splicing variant in SELENOI gene causes spastic paraplegia 81.
Selenoprotein I (selenoi) as a critical enzyme in the central nervous system.
Title: Selenoprotein I (selenoi) as a critical enzyme in the central nervous system.
Roles for Selenoprotein I and Ethanolamine Phospholipid Synthesis in T Cell Activation.
Title: Roles for Selenoprotein I and Ethanolamine Phospholipid Synthesis in T Cell Activation.
Accessing the transcriptional status of selenoproteins in skin cancer-derived cell lines.
Title: Accessing the transcriptional status of selenoproteins in skin cancer-derived cell lines.
the indispensable role of EPT1 in the myelination process and neurodevelopment, and in the maintenance of normal homeostasis of ether-linked phospholipids in humans
Title: EPT1 (selenoprotein I) is critical for the neural development and maintenance of plasmalogen in humans.
intracellular localization of human selenoprotein SelI and the degree of expression of its gene in different human tumor cell lines
Title: Cloning, intracellular localization, and expression of the mammalian selenocysteine-containing protein SELENOI (SelI) in tumor cell lines.
These studies define the first human disorder arising due to defective CDP-ethanolamine biosynthesis and provide new insight into the role of Kennedy pathway components in human neurological function
Title: A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Spastic paraplegia 81, autosomal recessive MedGen: C5394033 OMIM: 618768 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-24366 (e-PCR)
- UniSTS:99863

RH102210 (e-PCR)
- UniSTS:96544

A003B32 (e-PCR)
- UniSTS:11150

RH98632 (e-PCR)
- UniSTS:87780

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ethanolaminephosphotransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ethanolaminephosphotransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables ethanolaminephosphotransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ethanolaminephosphotransferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in ether lipid biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in myelination	ISS Inferred from Sequence or Structural Similarity more info
involved_in phosphatidylethanolamine biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphatidylethanolamine biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in phosphatidylethanolamine biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in phosphatidylethanolamine biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: ethanolaminephosphotransferase 1

Names: ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific); hEPT1

NP_277040.1

EC 2.7.8.1

NCBI Reference Sequences (RefSeq)

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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_033505.4 → NP_277040.1 ethanolaminephosphotransferase 1

See identical proteins and their annotated locations for NP_277040.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the selenoprotein-encoding transcript.

Source sequence(s)

AC010896

Consensus CDS

CCDS46240.1

UniProtKB/Swiss-Prot

Q63ZE3, Q9C0D9

Related

ENSP00000260585.7, ENST00000260585.12

Conserved Domains (1) summary

cl00453
Location:6 → 382

CDP-OH_P_transf; CDP-alcohol phosphatidyltransferase

RNA

NR_137633.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate acceptor splice site at an internal exon compared to variant 1. It is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC010896