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    SELENOK selenoprotein K [ Homo sapiens (human) ]

    Gene ID: 58515, updated on 7-Oct-2018

    Summary

    Official Symbol
    SELENOKprovided by HGNC
    Official Full Name
    selenoprotein Kprovided by HGNC
    Primary source
    HGNC:HGNC:30394
    See related
    Ensembl:ENSG00000113811 MIM:607916; Vega:OTTHUMG00000158656
    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

    Genomic context

    See SELENOK in Genome Data Viewer
    Location:
    3p21.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (53884976..53892015, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (53919226..53925989, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene calcium voltage-gated channel subunit alpha1 D Neighboring gene choline dehydrogenase Neighboring gene interleukin 17 receptor B Neighboring gene ARP8 actin related protein 8 homolog 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

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

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Homology

    Clone Names

    • MGC17057

    Gene Ontology Provided by GOA

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

    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_021237.4NP_067060.2  selenoprotein K

      See identical proteins and their annotated locations for NP_067060.2

      Status: REVIEWED

      Source sequence(s)
      AJ712004, BC013162, BM762385, HY005604
      Consensus CDS
      CCDS54597.1
      UniProtKB/Swiss-Prot
      Q9Y6D0
      Related
      ENSP00000418813.1, OTTHUMP00000213230, ENST00000495461.5, OTTHUMT00000351659
      Conserved Domains (1) summary
      pfam10961
      Location:291
      SelK_SelG; Selenoprotein SelK_SelG

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

      Range
      53884976..53892015 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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