KIR2DS1

KIR2DS1
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
Gene ontology Molecular function transmembrane signaling receptor activity protein binding Cellular component integral component of membrane membrane plasma membrane Biological process innate immune response immune response regulation of immune response signal transduction Sources:Amigo/QuickGO
Orthologs Species Human Mouse Entrez 3806 n/a Ensembl n/a n/a UniProt Q14954 n/a RefSeq (mRNA) NM_014512 n/a RefSeq (protein) NP_055327 n/a Location (UCSC) n/a n/a PubMedsearch n/a
Wikidata
View/Edit Human

Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1is aproteinthat in humans is encoded by the KIR2DS1gene.

Function

Killer cell immunoglobulin-like receptors(KIRs) are transmembraneglycoproteinsexpressed bynatural killer cellsand subsets ofT cells.The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mbleukocyte receptor complex(LRC). The gene content of the KIR gene cluster varies amonghaplotypes,although several 'framework' genes are found in all haplotypes (KIR3DL3,KIR3DP1,KIR3DL4,KIR3DL2). The KIR proteins are classified by the number of extracellularimmunoglobulin domains(2D or 3D) and by whether they have a long (L) or short (S)cytoplasmicdomain. KIR proteins with the long cytoplasmic domain transduceinhibitory signalsuponligandbinding via animmunoreceptor tyrosine-based inhibitory motif(ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO proteintyrosine kinasebinding 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 theimmune response.

Further reading

• 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.PMID20371502.
• 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.PMID16112031.
• 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.PMID19897003.
• 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.PMID19309280.
• 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.PMID20426625.
• 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.PMID19664392.
• 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.PMID19875891.S2CID30343466.
• 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.PMID17882223.
• 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.PMID18778326.

This article incorporates text from theUnited States National Library of Medicine,which is in thepublic domain.