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Aliases for KLRK1 Gene

Aliases for KLRK1 Gene

  • Killer Cell Lectin Like Receptor K1 2 3 5
  • Killer Cell Lectin-Like Receptor Subfamily K, Member 1 2 3
  • NKG2-D-Activating NK Receptor 3 4
  • NK Cell Receptor D 3 4
  • D12S2489E 3 4
  • NKG2D 3 4
  • DNA Segment On Chromosome 12 (Unique) 2489 Expressed Sequence 2
  • Killer Cell Lectin-Like Receptor Subfamily K Member 1 4
  • NKG2-D Type II Integral Membrane Protein 3
  • CD314 Antigen 4
  • NKG2-D 3
  • CD314 3
  • KLR 3

External Ids for KLRK1 Gene

Previous HGNC Symbols for KLRK1 Gene

  • D12S2489E

Previous GeneCards Identifiers for KLRK1 Gene

  • GC12M010416
  • GC12M010267
  • GC12M010524
  • GC12M010681
  • GC12M010778
  • GC12M011014
  • GC12M011301
  • GC12M011535

Summaries for KLRK1 Gene

Entrez Gene Summary for KLRK1 Gene

  • 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]

GeneCards Summary for KLRK1 Gene

KLRK1 (Killer Cell Lectin Like Receptor K1) is a Protein Coding gene. Diseases associated with KLRK1 include Congenital Cytomegalovirus and Large Granular Lymphocyte Leukemia. Among its related pathways are Immune response Role of DAP12 receptors in NK cells and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include receptor activity and carbohydrate binding. An important paralog of this gene is KLRD1.

UniProtKB/Swiss-Prot for KLRK1 Gene

  • Function as an activating and costimulatory receptor involved in immunosurveillance upon binding to various cellular stress-inducible ligands displayed at the surface of autologous tumor cells and virus-infected cells. Provides both stimulatory and costimulatory innate immune responses on activated killer (NK) cells, leading to cytotoxic activity. Acts as a costimulatory receptor for T-cell receptor (TCR) in CD8(+) T-cell-mediated adaptive immune responses by amplifying T-cell activation. Stimulates perforin-mediated elimination of ligand-expressing tumor cells. Signaling involves calcium influx, culminating in the expression of TNF-alpha. Participates in NK cell-mediated bone marrow graft rejection. May play a regulatory role in differentiation and survival of NK cells. Binds to ligands belonging to various subfamilies of MHC class I-related glycoproteins including MICA, MICB, RAET1E, RAET1G, ULBP1, ULBP2, ULBP3 (ULBP2>ULBP1>ULBP3) and ULBP4.

Gene Wiki entry for KLRK1 Gene

Additional gene information for KLRK1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLRK1 Gene

Genomics for KLRK1 Gene

Regulatory Elements for KLRK1 Gene

Enhancers for KLRK1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12H010391 1.9 FANTOM5 Ensembl ENCODE dbSUPER 26.4 -2.9 -2910 7 FOXA2 ARID4B FEZF1 ATF7 RUNX3 DEK JUNB TSHZ1 ZNF662 KAT8 KLRA1P KLRK1 TAS2R20 KLRC3 KLRC4 KLRC2 LOC101928100 TAS2R31 TAS2R43 MAGOHB
GH12H010553 1.4 FANTOM5 Ensembl ENCODE dbSUPER 23.5 -163.0 -162976 2 SMAD5 CBFB EED ZBED1 RUNX3 KLRK1 KLRC4 KLRC1 KLRD1 LINC02446 KLRA1P KLRC4-KLRK1 KLRC3 KLRC2 LOC105376675
GH12H010360 1.6 FANTOM5 ENCODE dbSUPER 17.2 +27.6 27635 7 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 ZNF2 ZNF143 SP3 REST LOC101928100 KLRK1 DDX12P ENSG00000213443 KLRA1P LOC255308 ENSG00000257027 ENSG00000256682 CLEC2D ENSG00000255958
GH12H010557 1.3 FANTOM5 ENCODE dbSUPER 20.3 -166.6 -166648 2 TBL1XR1 SMAD5 CBFB ZBED1 JUNB EBF1 RELA IKZF1 EED ZNF24 KLRK1 KLRC4 KLRC1 KLRD1 KLRC4-KLRK1 KLRA1P LINC02446 KLRC3 KLRC2 LOC105376675
GH12H010369 0.8 FANTOM5 ENCODE dbSUPER 31.2 +21.8 21803 1 KLRK1 KLRC4 KLRC2 KLRD1 STYK1 KLRC1 KLRC4-KLRK1 KLRC3 LOC101928100 GC12P010386
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KLRK1 on UCSC Golden Path with GeneCards custom track

Genomic Location for KLRK1 Gene

Chromosome:
12
Start:
10,372,353 bp from pter
End:
10,391,874 bp from pter
Size:
19,522 bases
Orientation:
Minus strand

Genomic View for KLRK1 Gene

Genes around KLRK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLRK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLRK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLRK1 Gene

Proteins for KLRK1 Gene

  • Protein details for KLRK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P26718-NKG2D_HUMAN
    Recommended name:
    NKG2-D type II integral membrane protein
    Protein Accession:
    P26718
    Secondary Accessions:
    • A8K7K5
    • A8K7P4
    • Q9NR41

    Protein attributes for KLRK1 Gene

    Size:
    216 amino acids
    Molecular mass:
    25274 Da
    Quaternary structure:
    • Homodimer; disulfide-linked. Heterohexamer composed of two subunits of KLRK1 and four subunits of HCST/DAP10. Interacts (via transmembrane domain) with HCST/DAP10 (via transmembrane domain); the interaction is required for KLRK1 NK cell surface and induces NK cell-mediated cytotoxicity. Does not interact with TYROBP. Interacts with CEACAM1; recruits PTPN6 that dephosphorylates VAV1 (PubMed:23696226).
    Miscellaneous:
    • Is not capable of signal transduction by itself, but operates through the adapter protein HCST (PubMed:10426994 and PubMed:15894612). Some families of ligands for human and mouse KLRK1 receptors have been characterized being very similar in structure and highly likely to be orthologs. In humans, an additional distinct subfamily of ligands (MICA and MICB) differs structurally, having an extra MHC alpha 3-like domain (PubMed:23298206).

    Three dimensional structures from OCA and Proteopedia for KLRK1 Gene

    Alternative splice isoforms for KLRK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KLRK1 Gene

Post-translational modifications for KLRK1 Gene

  • Glycosylation at posLast=131131, isoforms=163, and isoforms=202
  • Modification sites at PhosphoSitePlus

Other Protein References for KLRK1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Protein Products

No data available for DME Specific Peptides for KLRK1 Gene

Domains & Families for KLRK1 Gene

Gene Families for KLRK1 Gene

Protein Domains for KLRK1 Gene

Suggested Antigen Peptide Sequences for KLRK1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KLRK1: view

No data available for UniProtKB/Swiss-Prot for KLRK1 Gene

Function for KLRK1 Gene

Molecular function for KLRK1 Gene

UniProtKB/Swiss-Prot Function:
Function as an activating and costimulatory receptor involved in immunosurveillance upon binding to various cellular stress-inducible ligands displayed at the surface of autologous tumor cells and virus-infected cells. Provides both stimulatory and costimulatory innate immune responses on activated killer (NK) cells, leading to cytotoxic activity. Acts as a costimulatory receptor for T-cell receptor (TCR) in CD8(+) T-cell-mediated adaptive immune responses by amplifying T-cell activation. Stimulates perforin-mediated elimination of ligand-expressing tumor cells. Signaling involves calcium influx, culminating in the expression of TNF-alpha. Participates in NK cell-mediated bone marrow graft rejection. May play a regulatory role in differentiation and survival of NK cells. Binds to ligands belonging to various subfamilies of MHC class I-related glycoproteins including MICA, MICB, RAET1E, RAET1G, ULBP1, ULBP2, ULBP3 (ULBP2>ULBP1>ULBP3) and ULBP4.
UniProtKB/Swiss-Prot Induction:
Up-regulated by interleukin IL15 in primary NK cells.

Phenotypes From GWAS Catalog for KLRK1 Gene

Gene Ontology (GO) - Molecular Function for KLRK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity IDA,TAS 17562706
GO:0005515 protein binding IPI 10426993
GO:0030246 carbohydrate binding IEA --
GO:0032394 MHC class Ib receptor activity IEA --
GO:0042288 MHC class I protein binding IEA --
genes like me logo Genes that share ontologies with KLRK1: view
genes like me logo Genes that share phenotypes with KLRK1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for KLRK1

CRISPR Products

miRNA for KLRK1 Gene

miRTarBase miRNAs that target KLRK1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KLRK1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KLRK1 Gene

Localization for KLRK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLRK1 Gene

Cell membrane; Single-pass type II membrane protein. Note=Colocalized with HCST on the cell surface.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KLRK1 gene
Compartment Confidence
plasma membrane 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KLRK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 2007850
GO:0009897 external side of plasma membrane IEA --
GO:0009986 cell surface IDA 10426994
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with KLRK1: view

Pathways & Interactions for KLRK1 Gene

genes like me logo Genes that share pathways with KLRK1: view

SIGNOR curated interactions for KLRK1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for KLRK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002223 stimulatory C-type lectin receptor signaling pathway IEA --
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
GO:0007165 signal transduction TAS 2007850
GO:0030101 natural killer cell activation TAS 18676862
genes like me logo Genes that share ontologies with KLRK1: view

Drugs & Compounds for KLRK1 Gene

(4) Drugs for KLRK1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for KLRK1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with KLRK1: view

Transcripts for KLRK1 Gene

Unigene Clusters for KLRK1 Gene

Killer cell lectin-like receptor subfamily K, member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KLRK1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for KLRK1 Gene

No ASD Table

Relevant External Links for KLRK1 Gene

GeneLoc Exon Structure for
KLRK1
ECgene alternative splicing isoforms for
KLRK1

Expression for KLRK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KLRK1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KLRK1 Gene

This gene is overexpressed in CD8 Tcells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KLRK1 Gene



Protein tissue co-expression partners for KLRK1 Gene

NURSA nuclear receptor signaling pathways regulating expression of KLRK1 Gene:

KLRK1

SOURCE GeneReport for Unigene cluster for KLRK1 Gene:

Hs.387787

mRNA Expression by UniProt/SwissProt for KLRK1 Gene:

P26718-NKG2D_HUMAN
Tissue specificity: Expressed in natural killer (NK) cells, CD8(+) alpha-beta and gamma-delta T-cells. Expressed on essentially all CD56+CD3- NK cells from freshly isolated PBMC. Expressed in interferon-producing killer dendritic cells (IKDCs).

Evidence on tissue expression from TISSUES for KLRK1 Gene

  • Spleen(4.4)
  • Stomach(4.2)
  • Blood(2)
genes like me logo Genes that share expression patterns with KLRK1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for KLRK1 Gene

Orthologs for KLRK1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KLRK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KLRK1 34
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KLRK1 34
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KLRK1 34
  • 66 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Klrk1 34
  • 56 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KLRK1 34
  • 49 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 45 (a)
OneToMany
-- 34
  • 41 (a)
OneToMany
-- 34
  • 38 (a)
OneToMany
-- 34
  • 35 (a)
OneToMany
-- 34
  • 33 (a)
OneToMany
-- 34
  • 32 (a)
OneToMany
-- 34
  • 29 (a)
OneToMany
-- 34
  • 28 (a)
OneToMany
-- 34
  • 27 (a)
OneToMany
-- 34
  • 26 (a)
OneToMany
-- 34
  • 26 (a)
OneToMany
-- 34
  • 25 (a)
OneToMany
-- 34
  • 25 (a)
OneToMany
-- 34
  • 22 (a)
OneToMany
-- 34
  • 20 (a)
OneToMany
-- 34
  • 20 (a)
OneToMany
-- 34
  • 19 (a)
OneToMany
-- 34
  • 18 (a)
OneToMany
-- 34
  • 18 (a)
OneToMany
Species where no ortholog for KLRK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for KLRK1 Gene

ENSEMBL:
Gene Tree for KLRK1 (if available)
TreeFam:
Gene Tree for KLRK1 (if available)

Paralogs for KLRK1 Gene

(10) SIMAP similar genes for KLRK1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with KLRK1: view

Variants for KLRK1 Gene

Sequence variations from dbSNP and Humsavar for KLRK1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000147161 -- 10,381,503(+) AGAAA(C/G)GAATC intron-variant
rs1000194817 -- 10,375,794(+) TACTC(C/T)AGCAT intron-variant
rs1000446964 -- 10,389,733(+) CTTCA(A/G)TAAGT intron-variant
rs1000455309 -- 10,379,061(+) GGCAG(G/T)AGAAT intron-variant
rs1000657951 -- 10,385,579(+) GAGAG(C/T)AGAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KLRK1 Gene

Variant ID Type Subtype PubMed ID
dgv2358n54 CNV loss 21841781
esv3892136 CNV loss 25118596
nsv1036390 CNV loss 25217958
nsv557455 CNV loss 21841781
nsv832328 CNV gain 17160897
nsv8914 CNV loss 18304495

Variation tolerance for KLRK1 Gene

Residual Variation Intolerance Score: 65.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.49; 10.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KLRK1 Gene

Human Gene Mutation Database (HGMD)
KLRK1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLRK1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLRK1 Gene

Disorders for KLRK1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for KLRK1 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
congenital cytomegalovirus
  • congenital cytomegalovirus infection
large granular lymphocyte leukemia
  • t-cell large granular lymphocyte leukemia
celiac disease
  • celiac sprue
alveolar echinococcosis
  • alveolococcosis
cowpox
  • yaba
- elite association - COSMIC cancer census association via MalaCards
Search KLRK1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for KLRK1

Genetic Association Database (GAD)
KLRK1
Human Genome Epidemiology (HuGE) Navigator
KLRK1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KLRK1
genes like me logo Genes that share disorders with KLRK1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KLRK1 Gene

Publications for KLRK1 Gene

  1. Association of an NKG2D gene variant with systemic lupus erythematosus in two populations. (PMID: 19735685) Kabalak G … Witte T (Human immunology 2010) 3 22 45 60
  2. Decreased risk of colorectal cancer with the high natural killer cell activity NKG2D genotype in Japanese. (PMID: 18174257) Furue H … Tajima K (Carcinogenesis 2008) 3 22 45 60
  3. Cholangiocarcinoma in primary sclerosing cholangitis is associated with NKG2D polymorphisms. (PMID: 18023027) Melum E … Lie BA (Hepatology (Baltimore, Md.) 2008) 3 22 45 60
  4. A Structural basis for the association of DAP12 with mouse, but not human, NKG2D. (PMID: 15294961) Rosen DB … Lanier LL (Journal of immunology (Baltimore, Md. : 1950) 2004) 3 4 22 60
  5. Symmetry recognizing asymmetry: analysis of the interactions between the C-type lectin-like immunoreceptor NKG2D and MHC class I-like ligands. (PMID: 12679019) McFarland BJ … Strong RK (Structure (London, England : 1993) 2003) 3 4 22 60

Products for KLRK1 Gene

Sources for KLRK1 Gene

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