Endometriosis Knowledgebase

Search Result

Gene id

22914

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

KLRK1 Gene UCSC Ensembl

Aliases

CD314, D12S2489E, KLR, NKG2-D, NKG2D

Gene name

killer cell lectin like receptor K1

Alternate names

NKG2-D type II integral membrane protein, NK cell receptor D, NKG2-D-activating NK receptor, killer cell lectin-like receptor subfamily K, member 1,

Gene location

12p13.2 (10390053: 10372352) Exons: 8 NC_000012.12

Gene summary(Entrez)

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]

OMIM

611817

Protein Summary

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002223	stimulatory C-type lectin receptor signaling pathw ay	IEA	biological_process
GO:0002250	adaptive immune response	IEA	biological_process
GO:0002860	positive regulation of na tural killer cell mediate d cytotoxicity directed a gainst tumor cell target	IEA	biological_process
GO:0004872	receptor activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0007165	signal transduction	TAS	biological_process
GO:0009897	external side of plasma m embrane	IEA	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0016021	integral component of mem brane	TAS	cellular_component
GO:0019900	kinase binding	IEA	molecular_function
GO:0030101	natural killer cell activ ation	TAS	biological_process
GO:0030154	cell differentiation	IEA	biological_process
GO:0030246	carbohydrate binding	IEA	molecular_function
GO:0030887	positive regulation of my eloid dendritic cell acti vation	IEA	biological_process
GO:0031295	T cell costimulation	TAS	biological_process
GO:0032394	MHC class Ib receptor act ivity	IEA	molecular_function
GO:0032729	positive regulation of in terferon-gamma production	IEA	biological_process
GO:0034260	negative regulation of GT Pase activity	IDA	biological_process
GO:0042288	MHC class I protein bindi ng	IEA	molecular_function
GO:0042803	protein homodimerization activity	IEA	molecular_function
GO:0043065	positive regulation of ap optotic process	IEA	biological_process
GO:0045087	innate immune response	IEA	biological_process
GO:0045429	positive regulation of ni tric oxide biosynthetic p rocess	IEA	biological_process
GO:0045954	positive regulation of na tural killer cell mediate d cytotoxicity	IDA	biological_process
GO:0050776	regulation of immune resp onse	TAS	biological_process
GO:0050830	defense response to Gram- positive bacterium	IEA	biological_process
GO:0071222	cellular response to lipo polysaccharide	IEA	biological_process
GO:2000502	negative regulation of na tural killer cell chemota xis	IDA	biological_process
GO:0002223	stimulatory C-type lectin receptor signaling pathw ay	IEA	biological_process
GO:0002250	adaptive immune response	IEA	biological_process
GO:0002376	immune system process	IEA	biological_process
GO:0002860	positive regulation of na tural killer cell mediate d cytotoxicity directed a gainst tumor cell target	IEA	biological_process
GO:0004872	receptor activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0007165	signal transduction	TAS	biological_process
GO:0009897	external side of plasma m embrane	IEA	cellular_component
GO:0009986	cell surface	IEA	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016021	integral component of mem brane	TAS	cellular_component
GO:0019900	kinase binding	IEA	molecular_function
GO:0030101	natural killer cell activ ation	IEA	biological_process
GO:0030101	natural killer cell activ ation	TAS	biological_process
GO:0030154	cell differentiation	IEA	biological_process
GO:0030246	carbohydrate binding	IEA	molecular_function
GO:0030887	positive regulation of my eloid dendritic cell acti vation	IEA	biological_process
GO:0031295	T cell costimulation	TAS	biological_process
GO:0032394	MHC class Ib receptor act ivity	IEA	molecular_function
GO:0032729	positive regulation of in terferon-gamma production	IEA	biological_process
GO:0034260	negative regulation of GT Pase activity	IDA	biological_process
GO:0042288	MHC class I protein bindi ng	IEA	molecular_function
GO:0042803	protein homodimerization activity	IEA	molecular_function
GO:0043065	positive regulation of ap optotic process	IEA	biological_process
GO:0045087	innate immune response	IEA	biological_process
GO:0045429	positive regulation of ni tric oxide biosynthetic p rocess	IEA	biological_process
GO:0045954	positive regulation of na tural killer cell mediate d cytotoxicity	IEA	biological_process
GO:0045954	positive regulation of na tural killer cell mediate d cytotoxicity	IDA	biological_process
GO:0050776	regulation of immune resp onse	TAS	biological_process
GO:0050830	defense response to Gram- positive bacterium	IEA	biological_process
GO:0071222	cellular response to lipo polysaccharide	IEA	biological_process
GO:2000502	negative regulation of na tural killer cell chemota xis	IDA	biological_process
GO:0004872	receptor activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0007165	signal transduction	TAS	biological_process
GO:0009986	cell surface	IDA	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0016021	integral component of mem brane	TAS	cellular_component
GO:0030101	natural killer cell activ ation	TAS	biological_process
GO:0031295	T cell costimulation	TAS	biological_process
GO:0034260	negative regulation of GT Pase activity	IDA	biological_process
GO:0045954	positive regulation of na tural killer cell mediate d cytotoxicity	IDA	biological_process
GO:0050776	regulation of immune resp onse	TAS	biological_process
GO:2000502	negative regulation of na tural killer cell chemota xis	IDA	biological_process

KEGG pathways

hsa05144 Malaria
hsa04650 Natural killer cell mediated cytotoxicity

Diseases

Associated diseases	References
Rheumatoid arthritis	GAD18700876
Lupus erythematosus	GAD19735685
Esophageal cancer	GAD18398831
Colorectal cancer	GAD18174257
Bile Duct Neoplasms	GAD18023027
Endometriosis	PubMed27130956

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
27130956	Endometrio sis			63 (30 women wi th endometriosi s, 33 women wit hout endometrio sis)		TGF-?1	Show abstract