• Gene id: 9437

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 (28506210: 28538899)     Exons: 11     NC_000017.11
• 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: 34481
  • Tissue specificity: Selectively expressed by both resting and activated NK cells. {ECO
• Sequence:

  MSSTLPALLCVGLCLSQRISAQQQTLPKPFIWAEPHFMVPKEKQVTICCQGNYGAVEYQLHFEGSLFAVDRPKPP
  ERINKVKFYIPDMNSRMAGQYSCIYRVGELWSEPSNLLDLVVTEMYDTPTLSVHPGPEVISGEKVTFYCRLDTAT
  SMFLLLKEGRSSHVQRGYGKVQAEFPLGPVTTAHRGTYRCFGSYNNHAWSFPSEPVKLLVTGDIENTSLAPEDPT
  FPADTWGTYLLTTETGLQKDHALWDHTAQNLLRMGLAFLVLVALVWFLVEDWLSRKRTRERASRASTWEGRRRLN
  TQTL

• Structural information:
  • Protein Domains: (34..11-)
    (/note="Ig-like-1)
    (129..21-)
    (/note="Ig-like-2")
  • Interpro: IPR036179  IPR013783  IPR003599  
  • PDB: 1OLL 1P6F 6IAP
  • PDBsum: 1OLL 1P6F 6IAP
  • STRING: ENSP00000291890
• Other Databases: GeneCards:  NCR1  Malacards:  NCR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006968	cellular defense response	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0050776	regulation of immune response	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0030101	natural killer cell activation	NAS	biological process
GO:0016514	SWI/SNF complex	ISS	cellular component
GO:0042269	regulation of natural killer cell mediated cytotoxicity	TAS	biological process
GO:0005887	integral component of plasma membrane	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04650	Natural killer cell mediated cytotoxicity

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881