SELENON selenoprotein N [Macaca mulatta (Rhesus monkey)] - Gene

Summary

Official Symbol: SELENONprovided by VGNC
Official Full Name: selenoprotein Nprovided by VGNC
Primary source: VGNC:VGNC:81190
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Macaca mulatta
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Cercopithecidae; Cercopithecinae; Macaca
Also known as: SEPN1
Summary: This gene encodes a glycoprotein that is localized in the endoplasmic reticulum. It plays an important role in cell protection against oxidative stress, and in the regulation of redox-related calcium homeostasis. Mutations in the orthologous gene in human are associated with early onset muscle disorders, referred to as SEPN1-related myopathy. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). 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. A second stop-codon redefinition element (SRE) adjacent to the UGA codon has been identified in this gene (PMID:15791204). SRE is a phylogenetically conserved stem-loop structure that stimulates readthrough at the UGA codon, and augments the Sec insertion efficiency by SECIS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2016]
Orthologs: human mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: chromosome: 1

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
103	current	Mmul_10 (GCF_003339765.1)	1	NC_041754.1 (198983824..199002178, complement)
102	previous assembly	Mmul_8.0.1 (GCF_000772875.2)	1	NC_027893.1 (24594396..24613119)

Chromosome 1 - NC_041754.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

General gene information

Go to the top of the page Help

Markers

A010A48 (e-PCR)
- UniSTS:46464

G33062 (e-PCR)
- UniSTS:117638

D1S2885 (e-PCR), detects polymorphism
- UniSTS:43203

Gene Ontology Provided by RefSeq

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info	PubMed

Process	Evidence Code	Pubs
involved_in calcium ion homeostasis	IEA Inferred from Electronic Annotation more info	PubMed
involved_in skeletal muscle fiber development	IEA Inferred from Electronic Annotation more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: selenoprotein N

Names: selenoprotein N, 1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001347991.2 → NP_001334920.2 selenoprotein N isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the predominant transcript and encodes the canonical isoform 1.

Source sequence(s)

QNVO02000013

Conserved Domains (1) summary

cl08302
Location:74 → 113

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
NM_001347992.2 → NP_001334921.2 selenoprotein N isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate, in-frame acceptor splice site at the 3' terminal exon compared to variant 1. The resulting isoform (2) is longer, containing a 4 aa protein segment not found in isoform 1.

Source sequence(s)

QNVO02000013