Endometriosis Knowledgebase

Search Result

Gene id

9437

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

NCR1 Gene UCSC Ensembl

Aliases

CD335, LY94, NK-p46, NKP46

Gene name

natural cytotoxicity triggering receptor 1

Alternate names

natural cytotoxicity triggering receptor 1, NK cell-activating receptor, lymphocyte antigen 94 homolog (activating NK-receptor; NK-p46), natural killer cell p46-related protein,

Gene location

19q13.42 (54906041: 54938210) Exons: 9 NC_000019.10

OMIM

604530

Protein Summary

Protein general information

O76036

Name: Natural cytotoxicity triggering receptor 1 (Lymphocyte antigen 94 homolog) (NK cell activating receptor) (Natural killer cell p46 related protein) (NK p46) (NKp46) (hNKp46) (CD antigen CD335)

Length: 304 Mass: 34,481

Tissue specificity: Selectively expressed by both resting and activated NK cells. {ECO

Sequence

MSSTLPALLCVGLCLSQRISAQQQTLPKPFIWAEPHFMVPKEKQVTICCQGNYGAVEYQLHFEGSLFAVDRPKPP
ERINKVKFYIPDMNSRMAGQYSCIYRVGELWSEPSNLLDLVVTEMYDTPTLSVHPGPEVISGEKVTFYCRLDTAT
SMFLLLKEGRSSHVQRGYGKVQAEFPLGPVTTAHRGTYRCFGSYNNHAWSFPSEPVKLLVTGDIENTSLAPEDPT
FPADTWGTYLLTTETGLQKDHALWDHTAQNLLRMGLAFLVLVALVWFLVEDWLSRKRTRERASRASTWEGRRRLN
TQTL

Structural information

Protein Domains	Ig-like (34-118) Ig-like (129-211)
Interpro:	IPR007110 IPR013783 IPR003599
PDB:	1OLL 1P6F
PDBsum:	1OLL 1P6F
STRING:	ENSP00000291890;

Other Databases

GeneCards: NCR1; Malacards: NCR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005057	signal transducer activit y, downstream of receptor	TAS	molecular_function
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	NAS	cellular_component
GO:0006968	cellular defense response	TAS	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0016514	SWI/SNF complex	ISS	cellular_component
GO:0030101	natural killer cell activ ation	NAS	biological_process
GO:0042269	regulation of natural kil ler cell mediated cytotox icity	TAS	biological_process
GO:0050776	regulation of immune resp onse	TAS	biological_process
GO:0005057	signal transducer activit y, downstream of receptor	TAS	molecular_function
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	NAS	cellular_component
GO:0006968	cellular defense response	TAS	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016514	SWI/SNF complex	ISS	cellular_component
GO:0030101	natural killer cell activ ation	NAS	biological_process
GO:0042269	regulation of natural kil ler cell mediated cytotox icity	TAS	biological_process
GO:0050776	regulation of immune resp onse	TAS	biological_process
GO:0005057	signal transducer activit y, downstream of receptor	TAS	molecular_function
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	NAS	cellular_component
GO:0006968	cellular defense response	TAS	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0016514	SWI/SNF complex	ISS	cellular_component
GO:0030101	natural killer cell activ ation	NAS	biological_process
GO:0042269	regulation of natural kil ler cell mediated cytotox icity	TAS	biological_process
GO:0050776	regulation of immune resp onse	TAS	biological_process

KEGG pathways

hsa04650 Natural killer cell mediated cytotoxicity

Diseases

Associated diseases	References
Endometriosis	PMID: 24495049
Endometriosis	INFBASE24495049

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
24495049	Endometrio sis			49 (21 women wi th endometriosi s undergoing la paroscopic surg ery, 20 control s without endom etriosis)		NKp46 TNF-alpha and IFN-gamma	Show abstract