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SELENOI selenoprotein I [ Homo sapiens (human) ]

Gene ID: 85465, updated on 24-Nov-2020

Summary

Official Symbol
SELENOIprovided by HGNC
Official Full Name
selenoprotein Iprovided by HGNC
Primary source
HGNC:HGNC:29361
See related
Ensembl:ENSG00000138018 MIM:607915
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

Genomic context

See SELENOI in Genome Data Viewer
Location:
2p23.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (26346143..26395885)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (26568954..26618759)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta Neighboring gene uncharacterized LOC105374334 Neighboring gene adhesion G protein-coupled receptor F3 Neighboring gene dynein regulatory complex subunit 1 Neighboring gene Sharpr-MPRA regulatory region 888 Neighboring gene otoferlin

Genomic regions, transcripts, and products

Expression

  • 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1724

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ethanolaminephosphotransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ethanolaminephosphotransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
ethanolaminephosphotransferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
phosphatidylethanolamine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylethanolamine biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylethanolamine biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
phosphatidylethanolamine biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
phosphatidylethanolamine biosynthetic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
ethanolaminephosphotransferase 1
Names
ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)
hEPT1
NP_277040.1

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)

  1. NM_033505.4NP_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
    Q9C0D9
    Related
    ENSP00000260585.7, ENST00000260585.12
    Conserved Domains (1) summary
    cl00453
    Location:6382
    CDP-OH_P_transf; CDP-alcohol phosphatidyltransferase

RNA

  1. 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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    26346143..26395885
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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