• Gene id: 51348

Gene Summary

• Gene Symbol: KLRF1   Gene   UCSC   Ensembl
• Aliases: CLEC5C, NKp80
• Gene name: killer cell lectin like receptor F1
• Alternate names: killer cell lectin-like receptor subfamily F member 1, C-type lectin domain family 5 member C, activating coreceptor NKp80, killer cell lectin-like receptor subfamily F, member 1, lectin-like receptor F1,
• Gene location: 12p13.31 (9800051: 9845004)     Exons: 7     NC_000012.12
• Gene summary(Entrez): KLRF1, an activating homodimeric C-type lectin-like receptor (CTLR), is expressed on nearly all natural killer (NK) cells and stimulates their cytoxicity and cytokine release (Kuttruff et al., 2009 [PubMed 18922855]).[supplied by OMIM, Oct 2009]
• OMIM: 600948

Protein Summary

• Protein general information: Q9NZS2  
  • Name: Killer cell lectin like receptor subfamily F member 1 (Lectin like receptor F1) (Activating coreceptor NKp80) (C type lectin domain family 5 member C)
  • Length: 231  
  • Mass: 26563
  • Tissue specificity: Strongly expressed in peripheral blood leukocytes and spleen, with weaker expression in lymph node and adult liver, and no expression detected in bone marrow, thymus, and fetal liver. Not expressed in brain, heart, placenta, lung, kidn
• Sequence:

  MQDEERYMTLNVQSKKRSSAQTSQLTFKDYSVTLHWYKILLGISGTVNGILTLTLISLILLVSQGVLLKCQKGSC
  SNATQYEDTGDLKVNNGTRRNISNKDLCASRSADQTVLCQSEWLKYQGKCYWFSNEMKSWSDSYVYCLERKSHLL
  IIHDQLEMAFIQKNLRQLNYVWIGLNFTSLKMTWTWVDGSPIDSKIFFIKGPAKENSCAAIKESKIFSETCSSVF
  KWICQY

• Structural information:
  • Protein Domains: (121..23-)
    (/note="C-type-lectin)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00040"-)
  • Interpro: IPR001304  IPR016186  IPR016187  IPR033992  
  • Prosite: PS50041
  • CDD: cd03593
  • DIP: 58613
  • STRING: ENSP00000483713
• Other Databases: GeneCards:  KLRF1  Malacards:  KLRF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016020	membrane	IEA	cellular component
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0004888	transmembrane signaling receptor activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007166	cell surface receptor signaling pathway	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0050776	regulation of immune response	TAS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0032393	MHC class I receptor activity	TAS	molecular function

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray