|HGNC Family||Killer cell immunoglobulin-like receptors (KIR), Immunoglobulin superfamily domain containing, CD molecules (CD)|
|Name||killer cell immunoglobulin-like receptor, three domains, pseudogene 1|
|Description||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. This gene is one of the "framework" loci that is present on all haplotypes. This gene is considered to be a pseudogene based on the absence of transcription and it lacks several functional domains compared to other killer cell immunoglobulin-like receptors. A rare haplotype, the result of a recombinantion event, has two copies of this gene, one of which may encode a secreted protein. (PMID: 15580659)[provided by RefSeq, Mar 2011]|
|Synonyms||CD158C, KIR3DS2P, KIR2DS6, KIR48, KIRX|
|NCBI Gene ID||548594|
|Expression in Tissues and Cell Lines||
KIR3DP1 has 199 functional associations with biological entities spanning 5 categories (molecular profile, disease, phenotype or trait, functional term, phrase or reference, cell line, cell type or tissue, gene, protein or microRNA) extracted from 7 datasets.
Click the + buttons to view associations for KIR3DP1 from the datasets below.
If available, associations are ranked by standardized value
|CHEA Transcription Factor Binding Site Profiles||transcription factor binding site profiles with transcription factor binding evidence at the promoter of KIR3DP1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.|
|CHEA Transcription Factor Targets||transcription factors binding the promoter of KIR3DP1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.|
|GAD Gene-Disease Associations||diseases associated with KIR3DP1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.|
|GeneRIF Biological Term Annotations||biological terms co-occuring with KIR3DP1 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.|
|GeneSigDB Published Gene Signatures||PubMedIDs of publications reporting gene signatures containing KIR3DP1 from the GeneSigDB Published Gene Signatures dataset.|
|HuGE Navigator Gene-Phenotype Associations||phenotypes associated with KIR3DP1 gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.|
|TCGA Signatures of Differentially Expressed Genes for Tumors||tissue samples with high or low expression of KIR3DP1 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset.|