Endometriosis Knowledgebase

Search Result

Gene id

3821

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

KLRC1 Gene UCSC Ensembl

Aliases

CD159A, NKG2, NKG2A

Gene name

killer cell lectin like receptor C1

Alternate names

NKG2-A/NKG2-B type II integral membrane protein, C-lectin type II protein, CD159 antigen-like family member A, NK cell receptor A, NKG2-1/B activating NK receptor, NKG2-A/B type II integral membrane protein, NKG2-A/B-activating NK receptor, killer cell lectin-like receptor subfamily C, member 1, natural killer cell lectin, natural killer group protein 2,

Gene location

12p13.2 (10454684: 10441672) Exons: 9 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. 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]

OMIM

161555

Protein Summary

Protein general information

P26715

Name: NKG2-A/NKG2-B type II integral membrane protein (CD159 antigen-like family member A) (NK cell receptor A) (NKG2-A/B-activating NK receptor) (CD antigen CD159a)

Length: 233 Mass: 26,314

Tissue specificity: Natural killer cells.

Sequence

MDNQGVIYSDLNLPPNPKRQQRKPKGNKNSILATEQEITYAELNLQKASQDFQGNDKTYHCKDLPSAPEKLIVGI
LGIICLILMASVVTIVVIPSTLIQRHNNSSLNTRTQKARHCGHCPEEWITYSNSCYYIGKERRTWEESLLACTSK
NSSLLSIDNEEEMKFLSIISPSSWIGVFRNSSHHPWVTMNGLAFKHEIKDSDNAELNCAVLQVNRLKSAQCGSSI
IYHCKHKL

Structural information

Protein Domains	C-type (118-231)
Interpro:	IPR001304 IPR016186 IPR016187 IPR033992
Prosite:	PS50041
Pfam:	PF00059
CDD:	cd03593
PDB:	2RMX 2YU7 3BDW 3CDG 3CII
PDBsum:	2RMX 2YU7 3BDW 3CDG 3CII
STRING:	ENSP00000352064;

Other Databases

GeneCards: KLRC1; Malacards: KLRC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004888	transmembrane signaling r eceptor activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0007166	cell surface receptor sig naling pathway	TAS	biological_process
GO:0023024	MHC class I protein compl ex binding	IPI	molecular_function
GO:0030246	carbohydrate binding	IEA	molecular_function
GO:0043235	receptor complex	IDA	cellular_component
GO:0050776	regulation of immune resp onse	TAS	biological_process
GO:1990405	protein antigen binding	IDA	molecular_function
GO:0004888	transmembrane signaling r eceptor activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0007166	cell surface receptor sig naling pathway	TAS	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0023024	MHC class I protein compl ex binding	IPI	molecular_function
GO:0030246	carbohydrate binding	IEA	molecular_function
GO:0043235	receptor complex	IDA	cellular_component
GO:0050776	regulation of immune resp onse	TAS	biological_process
GO:1990405	protein antigen binding	IDA	molecular_function
GO:0004888	transmembrane signaling r eceptor activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0007166	cell surface receptor sig naling pathway	TAS	biological_process
GO:0023024	MHC class I protein compl ex binding	IPI	molecular_function
GO:0043235	receptor complex	IDA	cellular_component
GO:0050776	regulation of immune resp onse	TAS	biological_process
GO:1990405	protein antigen binding	IDA	molecular_function

KEGG pathways

hsa05332  Graft-versus-host disease
hsa04612  Antigen processing and presentation
hsa04650  Natural killer cell mediated cytotoxicity

Diseases

Associated diseases	References
Endometriosis	INFBASE17706207

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
17706207	Endometrio sis			33 (20 with end ometriosis, 13 without endomet riosis)		CD94/NKG2A HLA-E	Show abstract