Killer Cell Immunoglobulin-Like Receptor, Three Domains, Pseudogene 1

Alternative Names

  • KIR3DP1
  • CD158C
  • KIRX
  • KIR48
  • KIR2DS6
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OMIM Number

610604

NCBI Gene ID

548594

Length

4,057 bases

No. of isoforms

1

Genomic Location

chr19:54,786,361-54,790,417

Gene Map Locus
19q13.42

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. [From RefSeq]

Epidemiology in the Arab World

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Other Reports

Comoros

Frassati et al. 2006 studied the entire spectrum of KIR genes in a sample of 54 unrelated Comorians living in France. The KIR3DP1 gene was included in this study, and the individuals were typed for KIR3DP1*001-004 alleles by PCR-SSP. The gene was found to be present in all the Comorian individuals tested. Comparing the Comorian data for this and other KIR genes with those from other populations, Frassati et al. (2006) demonstrated that the Comorian population exhibited close kinship with Africans and Afro-Carribeans, followed by Southeast Asians.

Lebanon

No association has been found in the Lebanese population between KIR3DP1 genotypes and various disease conditions, including Non-Hodgkin's Lymphoma (Hoteit et al. 2015), Folicular Lymphoma (Khalaf et al. 2013), Multiple Myeloma (Hoteit et al. 2014), Tuberculosis (Mahfouz et al. 2011), and Tonsillitis (Bitar et al. 2008).    

However, Arayssi et al. 2009 suggested that KIR3DP*001/002 could be involved in the predisposition to Behcet's Disease. Additionally, Mahfouz et al. 2009 showed that patients with Familial Mediterranean Fever had a higher prevalence of KIR3DP1*003. 

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