Homo sapiens Gene: KIR2DL1
Summary
InnateDB Gene IDBG-68931.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol KIR2DL1
Gene Name killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1
Synonyms CD158A; KIR-K64; KIR221; NKAT; NKAT-1; NKAT1; p58.1;
Species Homo sapiens
Ensembl Gene ENSG00000125498
Encoded Proteins
killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1
killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]
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 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:54769811-54784322
Strand Forward strand
Band q13.42
Transcripts
ENST00000336077 ENSP00000336769
ENST00000291633 ENSP00000291633
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
Experimentally validated
Total 9 [view]
Protein-Protein 9 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004872 receptor activity
GO:0005515 protein binding
Biological Process
GO:0002769 natural killer cell inhibitory signaling pathway
GO:0006955 immune response
GO:0050776 regulation of immune response
Cellular Component
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell pathway
Adaptive Immune System pathway
Immune System pathway
KEGG
Antigen processing and presentation pathway
Natural killer cell mediated cytotoxicity pathway
Graft-versus-host disease pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL K7R1R8 Q6IST4
UniProt Splice Variant
Entrez Gene 3802
UniGene
RefSeq NM_014218
HUGO HGNC:6329
OMIM 604936
CCDS CCDS12904
HPRD 12000
IMGT
EMBL AC011501 BC069344 JX008027
GenPept AAH69344 AFV74752
RNA Seq Atlas 3802