KIR2DS1
| KIR2DS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | KIR2DS1, CD158H, CD158a, p50.1, KIR2DP1DL1, KIR2DS4, killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 604952; GeneCards: KIR2DS1; OMA:KIR2DS1 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 is a protein that in humans is encoded by the KIR2DS1 gene.[2]
Function
[edit]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 immunoreceptor 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.
References
[edit]- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1".
Further reading
[edit]- Kimoto Y, Horiuchi T, Tsukamoto H, Kiyohara C, Mitoma H, Uchino A, Furugo I, Yoshizawa S, Ueda A, Harashima S, Sawabe T, Tahira T, Hayashi K, Yoshizawa S, Shimoda T, Akashi K, Harada M (July 2010). "Association of killer cell immunoglobulin-like receptor 2DL5 with systemic lupus erythematosus and accompanying infections". Rheumatology. 49 (7): 1346–53. doi:10.1093/rheumatology/keq050. PMID 20371502.
- Williams F, Meenagh A, Sleator C, Cook D, Fernandez-Vina M, Bowcock AM, Middleton D (July 2005). "Activating killer cell immunoglobulin-like receptor gene KIR2DS1 is associated with psoriatic arthritis". Human Immunology. 66 (7): 836–41. doi:10.1016/j.humimm.2005.04.005. PMID 16112031.
- Levinson RD, Okada AA, Ashouri E, Keino H, Rajalingam R (February 2010). "Killer cell immunoglobulin-like receptor gene-cluster 3DS1-2DL5-2DS1-2DS5 predisposes susceptibility to Vogt-Koyanagi-Harada syndrome in Japanese individuals". Human Immunology. 71 (2): 192–4. doi:10.1016/j.humimm.2009.11.001. PMID 19897003.
- Mahfouz RA, Sabbagh AS, Shamseddine W, Bazarbachi A, Ibrahim G, Arayssi T, El Hajj N, Rayes R, Zaatari GS, Khazen G, Khalaf RA (February 2009). "Distribution of killer cell immunoglobulin-like receptor (KIR) genotypes in patients with familial Mediterranean fever". Genetic Testing and Molecular Biomarkers. 13 (1): 91–5. doi:10.1089/gtmb.2008.0081. PMID 19309280.
- Listì F, Caruso C, Colonna-Romano G, Lio D, Nuzzo D, Candore G (2010). "HLA and KIR frequencies in Sicilian Centenarians" (PDF). Rejuvenation Research. 13 (2–3): 314–8. doi:10.1089/rej.2009.0984. hdl:10447/59550. PMID 20426625.
- Zhang HQ, Zhao JJ, Zhao YR, Guan QB, Gao L, Song HD (August 2009). "[Genotype analysis of killer cell immunoglobulin-like receptors in Graves' disease patients]". Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi = Chinese Journal of Cellular and Molecular Immunology. 25 (8): 699–701. PMID 19664392.
- Nowak I, Malinowski A, Tchorzewski H, Barcz E, Wilczynski JR, Grybos M, Kurpisz M, Luszczek W, Banasik M, Reszczynska-Slezak D, Majorczyk E, Wisniewski A, Senitzer D, Yao Sun J, Kusnierczyk P (2009). "Frequencies of killer immunoglobulin-like receptor genotypes influence susceptibility to spontaneous abortion". Journal of Applied Genetics. 50 (4): 391–8. doi:10.1007/BF03195699. PMID 19875891. S2CID 30343466.
- Majorczyk E, Pawlik A, Łuszczek W, Nowak I, Wiśniewski A, Jasek M, Kuśnierczyk P (December 2007). "Associations of killer cell immunoglobulin-like receptor genes with complications of rheumatoid arthritis". Genes and Immunity. 8 (8): 678–83. doi:10.1038/sj.gene.6364433. PMID 17882223.
- Franceschi DS, Mazini PS, Rudnick CC, Sell AM, Tsuneto LT, de Melo FC, Braga MA, Peixoto PR, Visentainer JE (November 2008). "Association between killer-cell immunoglobulin-like receptor genotypes and leprosy in Brazil". Tissue Antigens. 72 (5): 478–82. doi:10.1111/j.1399-0039.2008.01127.x. PMID 18778326.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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