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    KLRK1 killer cell lectin like receptor K1 [ Homo sapiens (human) ]

    Gene ID: 22914, updated on 12-Aug-2018

    Summary

    Official Symbol
    KLRK1provided by HGNC
    Official Full Name
    killer cell lectin like receptor K1provided by HGNC
    Primary source
    HGNC:HGNC:18788
    See related
    Ensembl:ENSG00000213809 MIM:611817; Vega:OTTHUMG00000168574
    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
    KLR; CD314; NKG2D; NKG2-D; D12S2489E
    Summary
    Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. The NKG2 gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed in NK cells. This gene encodes a member of the NKG2 family. The encoded transmembrane protein is characterized by a type II membrane orientation (has an extracellular C terminus) and the presence of a C-type lectin domain. It binds to a diverse family of ligands that include MHC class I chain-related A and B proteins and UL-16 binding proteins, where ligand-receptor interactions can result in the activation of NK and T cells. The surface expression of these ligands is important for the recognition of stressed cells by the immune system, and thus this protein and its ligands are therapeutic targets for the treatment of immune diseases and cancers. Read-through transcription exists between this gene and the upstream KLRC4 (killer cell lectin-like receptor subfamily C, member 4) family member in the same cluster. [provided by RefSeq, Dec 2010]
    Expression
    Broad expression in spleen (RPKM 28.6), lymph node (RPKM 22.6) and 16 other tissues See more
    Orthologs

    Genomic context

    See KLRK1 in Genome Data Viewer
    Location:
    12p13.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (10372353..10390054, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (10524952..10542653, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene GABA type A receptor associated protein like 1 Neighboring gene killer cell lectin like receptor D1 Neighboring gene uncharacterized LOC105369656 Neighboring gene uncharacterized LOC101928100 Neighboring gene KLRC4-KLRK1 readthrough Neighboring gene killer cell lectin like receptor C4 Neighboring gene killer cell lectin like receptor C3

    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
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef HIV-1 Nef-mediated downregulation of NKG2DL triggers decreased signals delivered via NKG2D, which results in a weaker activation of NK cells and in reduced lysis PubMed
    Vpu vpu HIV-1 Vpu-mediated down modulation of NTB-A decreases NK cell activation via NKG2D, which results in protecting HIV-1 infected cells from lysis by NK cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • DAP12 interactions, organism-specific biosystem (from REACTOME)
      DAP12 interactions, organism-specific biosystemDNAX activation protein of 12kDa (DAP12) is an immunoreceptor tyrosine-based activation motif (ITAM)-bearing adapter molecule that transduces activating signals in natural killer (NK) and myeloid cel...
    • DAP12 signaling, organism-specific biosystem (from REACTOME)
      DAP12 signaling, organism-specific biosystemIn response to receptor ligation, the tyrosine residues in DAP12's immunoreceptor tyrosine-based activation motif (ITAM) are phosphorylated by Src family kinases. These phosphotyrosines form the dock...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell, organism-specific biosystem (from REACTOME)
      Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell, organism-specific biosystemA number of receptors and cell adhesion molecules play a key role in modifying the response of cells of lymphoid origin (such as B-, T- and NK cells) to self and tumor antigens, as well as to pathoge...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Malaria, organism-specific biosystem (from KEGG)
      Malaria, organism-specific biosystemPlasmodium protozoa are parasites that account for malaria infection. Sporozoite forms of the parasite are injected by mosquito bites under the skin and are carried to the liver where they develop in...
    • Malaria, conserved biosystem (from KEGG)
      Malaria, conserved biosystemPlasmodium protozoa are parasites that account for malaria infection. Sporozoite forms of the parasite are injected by mosquito bites under the skin and are carried to the liver where they develop in...
    • Natural killer cell mediated cytotoxicity, organism-specific biosystem (from KEGG)
      Natural killer cell mediated cytotoxicity, organism-specific biosystemNatural killer (NK) cells are lymphocytes of the innate immune system that are involved in early defenses against both allogeneic (nonself) cells and autologous cells undergoing various forms of stre...
    • Natural killer cell mediated cytotoxicity, conserved biosystem (from KEGG)
      Natural killer cell mediated cytotoxicity, conserved biosystemNatural killer (NK) cells are lymphocytes of the innate immune system that are involved in early defenses against both allogeneic (nonself) cells and autologous cells undergoing various forms of stre...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Readthrough KLRC4-KLRK1

    Readthrough gene: KLRC4-KLRK1, Included gene: KLRC4

    Clone Names

    • FLJ17759, FLJ75772

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    MHC class I protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    MHC class I protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    MHC class Ib receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    MHC class Ib receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
     
    kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    signaling receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    signaling receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    T cell costimulation TAS
    Traceable Author Statement
    more info
    PubMed 
    adaptive immune response IEA
    Inferred from Electronic Annotation
    more info
     
    cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to lipopolysaccharide IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cellular response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    defense response to Gram-positive bacterium IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    defense response to Gram-positive bacterium IEA
    Inferred from Electronic Annotation
    more info
     
    natural killer cell activation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    natural killer cell activation TAS
    Traceable Author Statement
    more info
    PubMed 
    natural killer cell mediated cytotoxicity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    natural killer cell mediated cytotoxicity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of GTPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of natural killer cell chemotaxis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of natural killer cell chemotaxis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of interferon-gamma production IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of interferon-gamma production IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of myeloid dendritic cell activation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of natural killer cell mediated cytotoxicity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of nitric oxide biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of nitric oxide biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of immune response TAS
    Traceable Author Statement
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    stimulatory C-type lectin receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    stimulatory C-type lectin receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    external side of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    NKG2-D type II integral membrane protein
    Names
    NK cell receptor D
    NKG2-D-activating NK receptor
    killer cell lectin-like receptor subfamily K, member 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.

    Genomic

    1. NG_027762.1 RefSeqGene

      Range
      4988..22689
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_007360.3NP_031386.2  NKG2-D type II integral membrane protein

      See identical proteins and their annotated locations for NP_031386.2

      Status: REVIEWED

      Source sequence(s)
      AC022075, AK292059, CB241686, DA933271
      Consensus CDS
      CCDS8623.1
      UniProtKB/Swiss-Prot
      P26718
      UniProtKB/TrEMBL
      A0A024RAP8
      Related
      ENSP00000240618.6, OTTHUMP00000239062, ENST00000240618.10, OTTHUMT00000400269
      Conserved Domains (2) summary
      cd03593
      Location:99213
      CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)
      PHA03097
      Location:47214
      PHA03097; C-type lectin-like protein; Provisional

    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_000012.12 Reference GRCh38.p12 Primary Assembly

      Range
      10372353..10390054 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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