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SELENOK selenoprotein K [ Homo sapiens (human) ]

Gene ID: 58515, updated on 7-Apr-2024

Summary

Official Symbol
SELENOKprovided by HGNC
Official Full Name
selenoprotein Kprovided by HGNC
Primary source
HGNC:HGNC:30394
See related
Ensembl:ENSG00000113811 MIM:607916; AllianceGenome:HGNC:30394
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
SELK; HSPC030; HSPC297
Summary
The protein encoded by this gene belongs to the selenoprotein K family. It is a transmembrane protein that is localized in the endoplasmic reticulum (ER), and is involved in ER-associated degradation (ERAD) of misfolded, glycosylated proteins. It also has a role in the protection of cells from ER stress-induced apoptosis. Knockout studies in mice show the importance of this gene in promoting Ca(2+) flux in immune cells and mounting effective immune response. 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. Pseudogenes of this locus have been identified on chromosomes 6 and 19.[provided by RefSeq, Aug 2017]
Expression
Ubiquitous expression in adrenal (RPKM 48.3), thyroid (RPKM 43.1) and 25 other tissues See more
Orthologs
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Genomic context

See SELENOK in Genome Data Viewer
Location:
3p21.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (53884417..53891859, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (53917657..53925099, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (53918444..53925886, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene calcium voltage-gated channel subunit alpha1 D Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53857324-53857923 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:53878721-53879561 Neighboring gene Sharpr-MPRA regulatory region 239 Neighboring gene choline dehydrogenase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14468 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19974 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14469 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:53925074-53925974 Neighboring gene interleukin 17 receptor B Neighboring gene actin related protein 8 Neighboring gene NANOG hESC enhancer GRCh37_chr3:54014583-54015161 Neighboring gene uncharacterized LOC105377095 Neighboring gene calcium binding tyrosine phosphorylation regulated pseudogene 1

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Clone Names

  • MGC17057

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in T cell migration IEA
Inferred from Electronic Annotation
more info
 
involved_in T cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in calcium ion transport IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in endoplasmic reticulum calcium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in establishment of localization in cell IEA
Inferred from Electronic Annotation
more info
 
involved_in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in macrophage derived foam cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in neutrophil migration IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of T cell migration IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of T cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of defense response to virus by host IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of interleukin-6 production IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of monocyte chemotactic protein-1 production IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of neutrophil migration IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of tumor necrosis factor production IEA
Inferred from Electronic Annotation
more info
 
involved_in protein palmitoylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of calcium-mediated signaling IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of protein transport IEA
Inferred from Electronic Annotation
more info
 
involved_in respiratory burst after phagocytosis IEA
Inferred from Electronic Annotation
more info
 
involved_in response to oxidative stress 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
 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 

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)

  1. NM_021237.5NP_067060.2  selenoprotein K

    See identical proteins and their annotated locations for NP_067060.2

    Status: REVIEWED

    Source sequence(s)
    AC012467, AJ712004, BC013162, BM762385
    Consensus CDS
    CCDS54597.1
    UniProtKB/Swiss-Prot
    Q8IZQ3, Q9P085, Q9Y6D0
    Related
    ENSP00000418813.1, ENST00000495461.6
    Conserved Domains (1) summary
    pfam10961
    Location:291
    SelK_SelG; Selenoprotein SelK_SelG

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    53884417..53891859 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    53917657..53925099 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)