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Aliases for KLRK1 Gene

Aliases for KLRK1 Gene

  • Killer Cell Lectin Like Receptor K1 2 3
  • Killer Cell Lectin-Like Receptor Subfamily K, Member 1 2 3 5
  • 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
  • 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

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 System and Innate Lymphoid Cell Differentiation Pathways. GO annotations related to this gene include receptor activity and carbohydrate binding. An important paralog of this gene is KLRC1.

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

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

Genomics for KLRK1 Gene

Regulatory Elements for KLRK1 Gene

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.
    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

Proteomics data for KLRK1 Gene at MOPED

Post-translational modifications for KLRK1 Gene

  • Glycosylation at Asn 131, Asn 163, and Asn 202
  • Modification sites at PhosphoSitePlus

Other Protein References for KLRK1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody 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

P26718

UniProtKB/Swiss-Prot:

NKG2D_HUMAN :
  • Contains 1 C-type lectin domain.
Domain:
  • Contains 1 C-type lectin domain.
genes like me logo Genes that share domains with KLRK1: view

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.

Gene Ontology (GO) - Molecular Function for KLRK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10426993
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

miRNA for KLRK1 Gene

miRTarBase miRNAs that target KLRK1

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
Jensen Localization Image for KLRK1 Gene COMPARTMENTS Subcellular localization image for KLRK1 gene
Compartment Confidence
plasma membrane 5

No data available for Gene Ontology (GO) - Cellular Components for KLRK1 Gene

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:0002860 positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target IEA --
GO:0007165 signal transduction TAS 2007850
GO:0034260 negative regulation of GTPase activity IDA 22585739
genes like me logo Genes that share ontologies with KLRK1: view

Drugs & Compounds for KLRK1 Gene

(3) Drugs for KLRK1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) 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:

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 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



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).
genes like me logo Genes that share expression patterns with KLRK1: view

Protein tissue co-expression partners for KLRK1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia KLRK1 36
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KLRK1 36
  • 66 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KLRK1 36
  • 49 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Klrk1 36
  • 56 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 18 (a)
OneToMany
-- 36
  • 20 (a)
OneToMany
-- 36
  • 29 (a)
OneToMany
-- 36
  • 25 (a)
OneToMany
-- 36
  • 38 (a)
OneToMany
-- 36
  • 45 (a)
OneToMany
-- 36
  • 41 (a)
OneToMany
-- 36
  • 26 (a)
OneToMany
-- 36
  • 20 (a)
OneToMany
-- 36
  • 22 (a)
OneToMany
-- 36
  • 25 (a)
OneToMany
-- 36
  • 35 (a)
OneToMany
-- 36
  • 18 (a)
OneToMany
-- 36
  • 33 (a)
OneToMany
-- 36
  • 19 (a)
OneToMany
-- 36
  • 28 (a)
OneToMany
-- 36
  • 26 (a)
OneToMany
-- 36
  • 32 (a)
OneToMany
-- 36
  • 27 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia KLRK1 36
  • 100 (a)
OneToOne
Species with no ortholog for KLRK1:
  • 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
VAR_013295 -
VAR_030738 -

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

Variant ID Type Subtype PubMed ID
nsv898757 CNV Gain 21882294
nsv832328 CNV Gain 17160897
nsv898759 CNV Loss 21882294
dgv1370n71 CNV Loss 21882294
nsv898763 CNV Loss 21882294
nsv8914 CNV Loss 18304495
dgv1371n71 CNV Loss 21882294

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

HapMap Linkage Disequilibrium report
KLRK1
Human Gene Mutation Database (HGMD)
KLRK1

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

Disorders for KLRK1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
congenital cytomegalovirus
large granular lymphocyte leukemia
  • t-cell large granular lymphocyte leukemia
celiac disease
  • celiac sprue
t-cell large granular lymphocyte leukemia
  • large granular lymphocytic leukemia
htlv-1 associated myelopathy/tropical spastic paraparesis
  • tropical spastic paraparesis
- 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. The genomic organization of NKG2C, E, F, and D receptor genes in the human natural killer gene complex. (PMID: 9683661) Glienke J. … Francis F. (Immunogenetics 1998) 2 3 4 67
  2. Association of an NKG2D gene variant with systemic lupus erythematosus in two populations. (PMID: 19735685) Kabalak G. … Witte T. (Hum. Immunol. 2010) 3 23
  3. Assay of T- and NK-cell subsets and the expression of NKG2A and NKG2D in patients with new-onset systemic lupus erythematosus. (PMID: 20012119) Li W.X. … Ye D.Q. (Clin. Rheumatol. 2010) 3 23
  4. Reduced immune effector cell NKG2D expression and increased levels of soluble NKG2D ligands in multiple myeloma may not be causally linked. (PMID: 20024547) von Lilienfeld-Toal M. … Cook G. (Cancer Immunol. Immunother. 2010) 3 23
  5. TGF-beta downregulates the activating receptor NKG2D on NK cells and CD8+ T cells in glioma patients. (PMID: 20150362) Crane C.A. … Parsa A.T. (Neuro-oncology 2010) 3 23

Products for KLRK1 Gene

Sources for KLRK1 Gene

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