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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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KLRF1
killer cell lectin like receptor F1
Chromosome 12 · 12p13.31
NCBI Gene: 51348Ensembl: ENSG00000150045.12HGNC: HGNC:13342UniProt: Q4KN30
22PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Receptor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
NK T cell activationtransmembrane signaling receptor activityplasma membranecell surface receptor signaling pathwayovarian neoplasmalcohol drinkingmusculoskeletal system diseaseplacenta praevia
✦AI Summary

KLRF1 (killer cell lectin-like receptor F1) is a type II transmembrane glycoprotein and activating receptor expressed on NK cells, subsets of T cells, and other hematopoietic cells 1. As an activating receptor, KLRF1 engages ligands including activation-induced C-type lectin (AICL) displayed on myeloid and tumor cells, stimulating NK cell cytotoxicity and cytokine production through SRC and SYK kinase activation 2. KLRF1 serves as a marker of CD56bright NK cells with enhanced activation and effector function 3. Clinically, KLRF1 has emerged as a diagnostic biomarker in multiple pathologies: it is identified as a hub gene in systemic lupus erythematosus and inflammatory bowel disease, likely reflecting dysregulated NK cell immunity 4, is differentially expressed in pulmonary fibrosis subtypes with higher expression in systemic sclerosis-associated ILD 5, and is downregulated in Kashin-Beck disease 6. In bladder cancer, high intratumoral KLRF1 expression on NK cells correlates with improved survival outcomes 3. Additionally, KLRF1+ NK-like innate lymphoid cells expand following checkpoint inhibitor therapy in hepatocellular carcinoma and associate with better progression-free survival 7. These findings underscore KLRF1's dual role as both a functional NK cell activation marker and a promising prognostic biomarker across diverse immune-mediated and malignant conditions.

Sources cited
1
KLRF1 is a type II transmembrane glycoprotein expressed in NK cells, monocytes, and myeloid cell lines; localized to chromosome 12p
PMID: 10671213
2
KLRF1 is an activating receptor that binds AICL ligand on tumor cells and stimulates NK cell degranulation
PMID: 20663776
3
KLRF1 marks CD56bright NK cells with enhanced activation and is associated with improved survival in bladder cancer
PMID: 36583228
4
KLRF1 identified as a hub gene and common diagnostic marker in SLE and IBD, expressed primarily in NK cells
PMID: 38774864
5
KLRF1 is differentially expressed between IPF and SSc-ILD, with higher expression in SSc-ILD
PMID: 39625896
6
KLRF1 is downregulated in Kashin-Beck disease and involved in immune cell differentiation and apoptosis
PMID: 29317700
7
KLRF1+ NK-like ILCs expand after checkpoint inhibitor therapy in HCC and associate with better progression-free survival
PMID: 35833139
Disease Associationsⓘ20
ovarian neoplasmOpen Targets
0.20Weak
alcohol drinkingOpen Targets
0.14Weak
musculoskeletal system diseaseOpen Targets
0.13Weak
placenta praeviaOpen Targets
0.12Weak
metabolic syndromeOpen Targets
0.07Suggestive
hypothyroidismOpen Targets
0.06Suggestive
thyroid diseaseOpen Targets
0.05Suggestive
myxedemaOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.04Suggestive
idiopathic pulmonary fibrosisOpen Targets
0.04Suggestive
Huntington diseaseOpen Targets
0.04Suggestive
autoimmune diseaseOpen Targets
0.03Suggestive
interstitial lung diseaseOpen Targets
0.03Suggestive
upper respiratory tract disorderOpen Targets
0.03Suggestive
leukemiaOpen Targets
0.03Suggestive
type 1 diabetes mellitusOpen Targets
0.02Suggestive
bladder tumorOpen Targets
0.02Suggestive
Hashimoto's thyroiditisOpen Targets
0.02Suggestive
response to anticonvulsantOpen Targets
0.02Suggestive
Stevens-Johnson syndromeOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CLEC2BProtein interaction100%NCR3Protein interaction97%PRF1Protein interaction93%CLEC1BProtein interaction85%CD160Protein interaction82%SLAMF6Protein interaction80%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
85%
Liver
58%
Heart
16%
Ovary
5%
Brain
4%
Gene Interaction Network
Click a node to explore
KLRF1CLEC2BNCR3PRF1CLEC1BCD160SLAMF6
PROTEIN STRUCTURE
Preparing viewer…
PDB8QMD · 2.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.84LoF Tolerant
pLIⓘ
0.25Tolerant
Observed/Expected LoF0.43 [0.23–0.84]
RankingsWhere KLRF1 stands among ~20K protein-coding genes
  • #13,683of 20,598
    Most Researched22
  • #7,298of 17,882
    Most Constrained (LOEUF)0.84
Genes detectedKLRF1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The shared circulating diagnostic biomarkers and molecular mechanisms of systemic lupus erythematosus and inflammatory bowel disease.
PMID: 38774864
Front Immunol · 2024
1.00
2
Human KLRF1, a novel member of the killer cell lectin-like receptor gene family: molecular characterization, genomic structure, physical mapping to the NK gene complex and expression analysis.
PMID: 10671213
Eur J Immunol · 2000
0.90
3
Comparative Analysis of Gene Expression Profiles of Human Dental Fluorosis and Kashin-Beck Disease.
PMID: 29317700
Sci Rep · 2018
0.80
4
Diagnostic potential of genomic blood biomarkers of pulmonary fibrosis in a prospective cohort.
PMID: 39625896
PLoS One · 2024
0.70
5
Molecular characterization of two novel alternative spliced variants of the KLRF1 gene and subcellular distribution of KLRF1 isoforms.
PMID: 11513955
Biochim Biophys Acta · 2001
0.60