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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]
KLRK1 (Killer Cell Lectin Like Receptor K1) is a Protein Coding gene. Diseases associated with KLRK1 include Cowpox and Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia. Among its related pathways are Immune response Role of DAP12 receptors in NK cells and Hematopoietic Stem Cells and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include carbohydrate binding. An important paralog of this gene is CLEC12B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 10426993 |
GO:0030246 | carbohydrate binding | IEA | -- |
GO:0032394 | MHC class Ib receptor activity | IEA | -- |
GO:0038023 | signaling receptor activity | TAS,IDA | 17562706 |
GO:0042288 | MHC class I protein binding | IEA | -- |
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 | IBA | 21873635 |
GO:0009986 | cell surface | IBA,IDA | 10426994 |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
|
2 | Innate Immune System |
.61
|
|
3 | Malaria |
-
|
|
4 | Immune response Role of DAP12 receptors in NK cells | ||
5 | Hematopoietic Stem Cells and Lineage-specific Markers |
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 |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KLRK1 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KLRK1 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KLRK1 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Klrk1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | KLRK1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
cowpox |
|
|
immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia |
|
|
alveolar echinococcosis |
|
|
alopecia areata |
|
|
t-cell large granular lymphocyte leukemia |
|
|