KIR3DL1 (killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3811
Gene name Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1
Gene symbol KIR3DL1
Synonyms (NCBI Gene)
CD158E1KIRKIR2DL5BKIR3DL1/S1NKAT-3NKAT3NKB1NKB1B
Chromosome 19
Chromosome location 19q13.42
Summary Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the
miRNA miRNA information provided by mirtarbase database.
3
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (3)
miRTarBase ID miRNA Experiments Reference
MIRT021728 hsa-miR-132-3p Microarray 17612493
MIRT2025562 hsa-miR-3150b-3p CLIP-seq
MIRT2025563 hsa-miR-4784 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
E2F1 Activation 18358829
YY1 Unknown 23328843
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0001540 Function Amyloid-beta binding IDA 24052308
GO:0002764 Process Immune response-regulating signaling pathway IBA
GO:0005515 Function Protein binding IPI 27455421, 27649529, 28514442, 32296183, 33961781
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604946 6338 ENSG00000167633
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P43629
Protein name Killer cell immunoglobulin-like receptor 3DL1 (CD158 antigen-like family member E) (HLA-BW4-specific inhibitory NK cell receptor) (Natural killer-associated transcript 3) (NKAT-3) (p70 natural killer cell receptor clones CL-2/CL-11) (p70 NK receptor CL-2/
Protein function Receptor on natural killer (NK) cells for HLA Bw4 allele. Inhibits the activity of NK cells thus preventing cell lysis.
PDB 3VH8 , 3WUW , 5B38 , 5B39 , 5T6Z , 5T70 , 6V3J , 7K80 , 7K81 , 9BL2 , 9BL3 , 9BL4 , 9BL5 , 9BL6 , 9BL9 , 9BLA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00047 ig 32 → 110 Immunoglobulin domain Domain
PF00047 ig 127 → 210 Immunoglobulin domain Domain
PF00047 ig 227 → 307 Immunoglobulin domain Domain
Sequence 
MSLMVVSMACVGLFLVQRAGPHMGGQDKPFLSAWPSAVVPRGGHVTLRCHYRHRFNNFML
YKEDRIHIPIFHGRIFQESFNMSPVTTAHAGNYTCRGSHPHSPTGWSAPSNPVVIMVTGN
HRKPSLLAHPGPLVKSGERVILQCWSDIMFEHFFLHKEGISKDPSRLVGQIHDGVSKANF
SIGPMMLALAGTYRCYGSVTHTPYQLSAPSDPLDIVVTGPYEKPSLSAQPGPKVQAGESV
TLSCSSRSSYDMYHLSREGGAHERRLPAVRKVNRTFQADFPLGPATHGGTYRCFGSFRHS
PYEWSDPSDPLLVSVTGNPSSSWPSPTEPSSKSGNPRHLHILIGTSVVIILFILLLFFLL
HLWCSNKKNAAVMDQEPAGNRTANSEDSDEQDPEEVTYAQLDHCVFTQRKITRPSQRPKT
PPTDTILYTELPNAKPRSKVVSCP
Sequence length 444
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Antigen processing and presentation
Natural killer cell mediated cytotoxicity
Graft-versus-host disease 		  Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (5)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
HEPATITIS C — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYDATIDIFORM MOLE, RECURRENT, 1 — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Keratoconus Uncertain significance ClinVar
Disgenet
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Prostate cancer Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (185)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome BEFREE 20035856
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 17555452, 20581313, 24755352, 25115891, 29907809, 31089287
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 28650455
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 31248612
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 20581313, 24755352
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 17476328
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 18515573
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyloid nephropathy Amyloid Nephropathy BEFREE 26574972
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 26574972
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 29159928
★★★★★
★☆☆☆☆
Found in Text Mining only