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

2013-06-01 Affiliation

Identity

HGNC

KIR3DL1

LOCATION

19q13.42

LOCUSID

3811

ALIAS

CD158E1,KIR,KIR2DL5B,KIR3DL1/S1,NKAT-3,NKAT3,NKB1,NKB1B

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 3811
MIM: 604946
HGNC: 6338
Ensembl: ENSG00000167633

Variants:

dbSNP: 3811
ClinVar: 3811
TCGA: ENSG00000167633
COSMIC: KIR3DL1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000167633	ENST00000326542	W5QJC1
ENSG00000167633	ENST00000358178	P43629
ENSG00000167633	ENST00000391728	P43629
ENSG00000167633	ENST00000391728	Q5UCE2

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Antigen processing and presentation	KEGG	ko04612
Natural killer cell mediated cytotoxicity	KEGG	ko04650
Graft-versus-host disease	KEGG	ko05332
Antigen processing and presentation	KEGG	hsa04612
Natural killer cell mediated cytotoxicity	KEGG	hsa04650
Graft-versus-host disease	KEGG	hsa05332
Immune System	REACTOME	R-HSA-168256
Adaptive Immune System	REACTOME	R-HSA-1280218
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell	REACTOME	R-HSA-198933

References

Pubmed ID	Year	Title	Citations
18945962	2009	Donors with group B KIR haplotypes improve relapse-free survival after unrelated hematopoietic cell transplantation for acute myelogenous leukemia.	166
17694054	2007	Unusual selection on the KIR3DL1/S1 natural killer cell receptor in Africans.	108
19386717	2009	HLA class I subtype-dependent expansion of KIR3DS1+ and KIR3DL1+ NK cells during acute human immunodeficiency virus type 1 infection.	99
22020283	2011	Killer cell immunoglobulin-like receptor 3DL1-mediated recognition of human leukocyte antigen B.	97
17182537	2007	Cutting Edge: Allele-specific and peptide-dependent interactions between KIR3DL1 and HLA-A and HLA-B.	86
21206914	2010	Different patterns of evolution in the centromeric and telomeric regions of group A and B haplotypes of the human killer cell Ig-like receptor locus.	83
20935224	2010	Genotypes of NK cell KIR receptors, their ligands, and Fcγ receptors in the response of neuroblastoma patients to Hu14.18-IL2 immunotherapy.	80
16210627	2005	KIR3DL1 polymorphisms that affect NK cell inhibition by HLA-Bw4 ligand.	74
17202323	2007	Cutting Edge: KIR3DS1, a gene implicated in resistance to progression to AIDS, encodes a DAP12-associated receptor expressed on NK cells that triggers NK cell activation.	67
17182560	2007	Functional polymorphism of the KIR3DL1/S1 receptor on human NK cells.	66

Citation

Dessen P

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

Atlas Genet Cytogenet Oncol Haematol. 2013-06-01

Online version: http://atlasgeneticsoncology.org/gene/53362/kir3dl1