KIR3DS1 Gene - Killer Cell Immunoglobulin-Like Receptor, Three Ig Domains and Short Cytoplasmic Tail 1
Activating NK cell receptor involved in immune surveillance and HIV/AIDS susceptibility
Gene Information Card
| Symbol | KIR3DS1 |
|---|---|
| Full Name | Killer cell immunoglobulin-like receptor, three Ig domains and short cytoplasmic tail 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.42 |
| NCBI Gene ID | 3813 ncbi.nlm.nih.gov/gene/3813 |
| Ensembl ID | ENSG00000204576 |
| UniProt ID | Q14943 |
| OMIM ID | 604957 |
| HGNC ID | 6335 |
| Aliases | CD158e2, KIR3DS1w, NKAT9, KIR3DS1*013 |
Description
KIR3DS1 (killer cell immunoglobulin-like receptor, three Ig domains and short cytoplasmic tail 1) is a protein-coding gene located on chromosome 19q13.42 within the leukocyte receptor complex. It encodes an activating receptor expressed on natural killer (NK) cells and a subset of T cells. KIR3DS1 recognizes HLA-F and possibly other HLA class I ligands, triggering NK cell activation and cytokine production. Polymorphisms in KIR3DS1 are associated with differential outcomes in HIV-1 infection, including delayed progression to AIDS, and have been implicated in susceptibility to other viral infections and autoimmune conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| HIV/AIDS | KIR3DS1 in combination with HLA-Bw4-80Ile enhances NK cell-mediated control of HIV-1 replication, delaying progression to AIDS | Multiple cohort studies (e.g., Martin et al. 2002, Nature Genetics) |
| Hepatitis C virus infection | KIR3DS1 may influence NK cell activity and viral clearance | Association studies in HCV cohorts |
| Psoriatic arthritis | KIR3DS1 gene presence increases risk in certain populations | Case-control genetic association studies |
| Cervical cancer | KIR3DS1/HLA interactions may modulate NK cell surveillance against HPV-related malignancies | Epidemiological and functional studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 0.0 | Not detected |
| Whole blood | 0.0 | Not detected |
| Lung | 0.0 | Not detected |
| Bone marrow | 0.0 | Not detected |
| Lymph node | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NK-92 (NK cell line) | 0.0 | Low/absent in this cell line; expression may require activation |
| YTS (NK cell line) | 0.0 | Not detected under standard conditions |
| Primary NK cells (activated) | 0.0 | Inducible upon cytokine stimulation; nTPM data not available |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| KIR3DS1*013 (common allele) | Allelic variant | High in diverse populations | Encodes functional activating receptor |
| KIR3DS1*014 | Allelic variant | Rare | Potential altered ligand binding |
| KIR3DS1*015 | Allelic variant | Rare | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported; gene presence/absence variation is common.
Gain of Function (GOF)
Not described; activating receptor is inherently gain-of-function relative to inhibitory KIRs.
Dominant Negative (DN)
Not reported for KIR3DS1.
View complete mutation data：
Gene Ontology (GO)
| • antigen binding (GO:0003823) | • cell surface receptor signaling pathway (GO:0007166) |
| • integral component of membrane (GO:0016021) | • natural killer cell activation (GO:0030101) |
| • natural killer cell mediated cytotoxicity (GO:0042267) | • metal ion binding (GO:0046872) |
Pathways
• Natural killer cell mediated cytotoxicity (KEGG hsa04650)
• Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell (Reactome R-HSA-198933)
Protein Summary
KIR3DS1 is a transmembrane glycoprotein of the immunoglobulin superfamily, containing three extracellular Ig-like domains and a short cytoplasmic tail with a positively charged residue in the transmembrane region that associates with DAP12 (TYROBP) adaptor protein for signaling. Upon ligand engagement (e.g., HLA-F), DAP12 recruits SYK/ZAP70 kinases, leading to NK cell activation, degranulation, and cytokine secretion. The protein is highly polymorphic, with allelic variation affecting expression levels and ligand specificity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KIR3DS1 Knockout HEK293 Cell Line | EDJ-KQ5075 | Human | 3813 | Details Get a Quote |
| KIR3DS1 Knockout A-549 Cell Line | EDJ-KQ28002 | Human | 3813 | Details Get a Quote |
| KIR3DS1 Knockout HCT 116 Cell Line | EDJ-KQ28003 | Human | 3813 | Details Get a Quote |
| KIR3DS1 Knockout HeLa Cell Line | EDJ-KQ28004 | Human | 3813 | Details Get a Quote |
