Version 5.4
| Homo sapiens Gene: KIR2DL1 | |||||||||||||||||||
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| 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
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| Protein Structure |
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| 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] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 19:54769811-54784322 | ||||||||||||||||||
| Strand | Forward strand | ||||||||||||||||||
| Band | q13.42 | ||||||||||||||||||
| Transcripts |
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| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| 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
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| KEGG |
Antigen processing and presentation pathway
Natural killer cell mediated cytotoxicity pathway
Graft-versus-host disease pathway
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| INOH | |||||||||||||||||||
| PID NCI | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | P43626 | ||||||||||||||||||
| TrEMBL | K7R1R8 Q6H2H3 Q6H2H4 Q6IST4 | ||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 3802 | ||||||||||||||||||
| UniGene | |||||||||||||||||||
| RefSeq | NM_014218 | ||||||||||||||||||
| HUGO | HGNC:6329 | ||||||||||||||||||
| OMIM | 604936 | ||||||||||||||||||
| CCDS | CCDS12904 | ||||||||||||||||||
| HPRD | |||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AC011501 AF022045 AY366237 AY366238 AY366239 AY789055 AY789056 BC069344 JX008027 JX008029 JX008031 L41267 U24076 U24078 | ||||||||||||||||||
| GenPept | AAA69868 AAB95318 AAC50335 AAC50337 AAH69344 AAR16195 AAR16196 AAR16197 AAX23100 AAX23101 AFV74752 AFV74759 AFV74770 | ||||||||||||||||||
| RNA Seq Atlas | 3802 | ||||||||||||||||||