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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. The protein encoded by this gene belongs to the killer cell lectin-like receptor family, also called NKG2 family, which is a group of transmembrane proteins preferentially expressed in NK cells. This family of proteins is characterized by the type II membrane orientation and the presence of a C-type lectin domain. This protein forms a complex with another family member, KLRD1/CD94, and has been implicated in the recognition of the MHC class I HLA-E molecules in NK cells. The genes of NKG2 family members form a killer cell lectin-like receptor gene cluster on chromosome 12. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jan 2015]
KLRC1 (Killer Cell Lectin Like Receptor C1) is a Protein Coding gene. Diseases associated with KLRC1 include Bare Lymphocyte Syndrome, Type I and Trichohepatoenteric Syndrome 1. 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 transmembrane signaling receptor activity and MHC class I protein complex binding. An important paralog of this gene is KLRC2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004888 | transmembrane signaling receptor activity | TAS | 2007850 |
GO:0005515 | protein binding | IPI | 18083576 |
GO:0023024 | MHC class I protein complex binding | IPI | 18448674 |
GO:0030246 | carbohydrate binding | IEA | -- |
GO:1990405 | NOT protein antigen binding | IDA | 18448674 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | TAS | 2007850 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0043235 | receptor complex | IDA | 18448674 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Immune response Role of DAP12 receptors in NK cells |
Immune response CD16 signaling in NK cells
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Immune response Role of DAP12 receptors in NK cells
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2 | Allograft rejection | ||
3 | Hematopoietic Stem Cells and Lineage-specific Markers | ||
4 | Class I MHC mediated antigen processing and presentation | ||
5 | Innate Immune System |
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007166 | cell surface receptor signaling pathway | TAS | 2007850 |
GO:0050776 | regulation of immune response | TAS | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
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ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KLRC1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KLRC1 30 |
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NKG2C 31 |
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ManyToMany | |||
Mouse (Mus musculus) |
Mammalia | Klrc1 30 17 31 |
|
ManyToMany | |
Rat (Rattus norvegicus) |
Mammalia | LOC100910089 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs2253849 | - | p.Asn29Ser |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv171e201 | CNV | deletion | 23290073 |
dgv2358n54 | CNV | loss | 21841781 |
dgv2359n54 | CNV | loss | 21841781 |
dgv2360n54 | CNV | loss | 21841781 |
dgv2361n54 | CNV | loss | 21841781 |
dgv264e199 | CNV | deletion | 23128226 |
dgv270n67 | CNV | loss | 20364138 |
esv25005 | CNV | loss | 19812545 |
esv32543 | CNV | loss | 17666407 |
esv3628535 | CNV | loss | 21293372 |
esv3892138 | CNV | loss | 25118596 |
nsv1138097 | CNV | deletion | 24896259 |
nsv1148413 | CNV | deletion | 26484159 |
nsv521062 | CNV | gain | 19592680 |
nsv557476 | CNV | loss | 21841781 |
nsv606 | CNV | deletion | 18451855 |
nsv832328 | CNV | gain | 17160897 |
nsv8914 | CNV | loss | 18304495 |
nsv975448 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
bare lymphocyte syndrome, type i |
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trichohepatoenteric syndrome 1 |
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malaria |
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celiac disease 1 |
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myeloma, multiple |
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