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Major histocompatibility complex, class II, DQ alpha 1
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<h2 id="function">Function</h2> <p>HLA-DQA1 belongs to the <a href="/facts/MHC_class_II/nQ4hkBgW">HLA class II</a> alpha chain <a href="/facts/Homology_(biology)/muctKlyT">paralogues</a>. This class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in <a href="/facts/Antigen-presenting_cells/No0wr2uU">antigen-presenting cells</a> (APC: B lymphocytes, dendritic cells, macrophages).<a class="footnote-ref" id="fnref:2" href="#fn:2"><sup>2</sup></a> </p> <h2 id="gene-structure-and-polymorphisms">Gene structure and polymorphisms</h2> <p>The alpha chain contains 5 <a href="/facts/Exon/8KWJtLuN">exons</a>. Exon one encodes the leader peptide, <a href="/facts/Exon/8KWJtLuN">exons</a> 2 and 3 encode the two extracellular <a href="/facts/Protein_domain/oUpFcSsl">protein domains</a>, exon 4 encodes the <a href="/facts/Transmembrane_protein/0vQH5HrM">transmembrane</a> domain and the <a href="/facts/Cytoplasm/Wa0sE6xf">cytoplasmic</a> tail. Within the DQ molecule both the alpha chain and the beta chain contain the <a href="/facts/Polymorphism_(biology)/lf32kgfV">polymorphisms</a> specifying the peptide binding specificities, resulting in up to 4 different molecules. Typing for these polymorphisms is routinely done for <a href="/facts/Hematopoietic_stem_cell_transplantation/rGYRsATD">bone marrow transplantation</a>.<a class="footnote-ref" id="fnref:3" href="#fn:3"><sup>3</sup></a><a class="footnote-ref" id="fnref:4" href="#fn:4"><sup>4</sup></a> </p> <h2 id="alleles">Alleles</h2> <h3>DQ1</h3> <p>There are four commonly encountered DQA1 alleles: DQA1*0101, *0102, *0103, *0104. These alleles are always found in haplotypes with HLA-DQB1*05 (<a href="/facts/HLA-DQ5/caN2HNob">DQ5</a>) and HLA-DQB1*06 (<a href="/facts/HLA-DQ6/nKGVz9Kd">DQ6</a>). DQ1 is a serotype, rare among serotypes for human class II antigens, in that the antibodies to DQ1 react to the alpha chain of HLA DQ, these DQA1 allele gene products. </p> HLA-DQA1 alleles<table><tbody><tr><th></th><th>DQA1</th><th colspan="6">linked DQB1 allele</th></tr><tr><td rowspan="6"><a href="/facts/HLA-DQ1/GfwCm4pR">DQ1</a></td><td>*0101</td><td><a href="/facts/HLA-DQ5/caN2HNob">*0501</a></td><td>*0301</td><td></td><td></td><td></td><td></td></tr><tr><td>*0102</td><td><a href="/facts/HLA-DQ5/caN2HNob">*0502</a></td><td><a href="/facts/HLA-DQ5/caN2HNob">*0504</a></td><td><a href="/facts/HLA-DQ6/nKGVz9Kd">*0602</a></td><td><a href="/facts/HLA-DQ6/nKGVz9Kd">*0604</a></td><td><a href="/facts/HLA-DQ6/nKGVz9Kd">*0605</a></td><td><a href="/facts/HLA-DQ6/nKGVz9Kd">*0609</a></td></tr><tr><td>*0103</td><td>*0501</td><td>*0502</td><td><a href="/facts/HLA-DQ6/nKGVz9Kd">*0601</a></td><td>*0602</td><td><a href="/facts/HLA-DQ6/nKGVz9Kd">*0603</a></td><td></td></tr><tr><td>*0104</td><td>*0501</td><td><a href="/facts/HLA-DQ5/caN2HNob">*0503</a></td><td>*0602</td><td></td><td></td><td></td></tr><tr><td>*0105</td><td colspan="6">rare</td></tr><tr><td>*0106</td><td colspan="6">rare</td></tr><tr><td colspan="8">See haplotype table in <a href="/facts/HLA-DQ/5Bstz08g">HLA-DQ</a>. Unbolded are rare haplotypes</td></tr><tr><td colspan="8">Link to haplotypes can be followed by DQB1 alleles</td></tr></tbody></table> <h3>Other</h3> <p>The other DQA1 alleles have no defined serotype. There are 5 groups, DQA1*02, *03, *04, *05, *06. DQA1 within these groups are either invariant or produce the same α-chain subunit. DQA1*02 and DQA1*06 contain only one allele. DQA1*03 has three alleles which each produce nearly identical α3. For DQA1*05, the DQA1*0501 and DQA1*0505 produce identical α5. Other DQA1*05 exist that produce variant α5var, but these are rare. </p> HLA-DQA1 alleles<table><tbody><tr><th>DQA1</th><th colspan="6">linked DQB1 allele</th></tr><tr><td>*0201</td><td><a href="/facts/HLA-DQ2/VNA9ExQy">*0202</a></td><td><a href="/facts/HLA-DQ9/fEwFJM68">*0303</a></td><td></td></tr><tr><td>*0301</td><td><a href="/facts/HLA-DQ2/VNA9ExQy">*0202</a></td><td><a href="/facts/HLA-DQ8/Wg7ESX1N">*0302</a></td><td></td></tr><tr><td>*0302</td><td></td><td></td><td></td></tr><tr><td>*0303</td><td><a href="/facts/HLA-DQ7/01JSAfTz">*0301</a></td><td>*0602</td><td></td></tr><tr><td>*0401</td><td><a href="/facts/HLA-DQ9/fEwFJM68">*0303</a></td><td><a href="/facts/HLA-DQ4/7jRw0E2u">*0401</a></td><td><a href="/facts/HLA-DQ4/7jRw0E2u">*0402</a></td></tr><tr><td>*0501</td><td><a href="/facts/HLA-DQ2/VNA9ExQy">*0201</a></td><td></td><td></td></tr><tr><td>*0505</td><td>*0301</td><td></td><td></td></tr><tr><td>*0601</td><td><a href="/facts/HLA-DQ7/01JSAfTz">*0301</a></td><td></td><td></td></tr><tr><td colspan="8">See haplotype table in <a href="/facts/HLA-DQ/5Bstz08g">HLA-DQ</a>. Unbolded are rare haplotypes</td></tr><tr><td colspan="8">Link to haplotypes can be followed by DQB1 alleles</td></tr></tbody></table> <h2 id="see-also">See also</h2> <ul><li><a href="/facts/Major_histocompatibility_complex/UEPsjx3u">Major histocompatibility complex</a></li> <li><a href="/facts/Human_leukocyte_antigen/6QRXe5QI">Human leukocyte antigen</a></li> <li><a href="/facts/HLA-DQ/5Bstz08g">HLA-DQ</a></li></ul> <h2 id="further-reading">Further reading</h2> <ul><li>Schmidt H, Williamson D, Ashley-Koch A (2007). <a href="https://doi.org/10.1093%2Faje%2Fkwk118">"HLA-DR15 haplotype and multiple sclerosis: a HuGE review"</a>. <i>Am. J. Epidemiol</i>. 165 (10): 1097–109. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1093%2Faje%2Fkwk118">10.1093/aje/kwk118</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/17329717">17329717</a>.</li> <li>Marsh SG, Bodmer JG (1993). "HLA class II nucleotide sequences, 1992". <i>Tissue Antigens</i>. 40 (5): 229–43. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1111%2Fj.1399-0039.1992.tb02050.x">10.1111/j.1399-0039.1992.tb02050.x</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/1362295">1362295</a>.</li> <li>Piatier-Tonneau D, Gastinel LN, Amblard F, et al. (1991). "Interaction of CD4 with HLA class II antigens and HIV gp120". <i>Immunogenetics</i>. 34 (2): 121–8. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1007%2FBF00211424">10.1007/BF00211424</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/1869305">1869305</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:10116507">10116507</a>.</li> <li>Rosenstein Y, Burakoff SJ, Herrmann SH (1990). <a href="https://doi.org/10.4049%2Fjimmunol.144.2.526">"HIV-gp120 can block CD4-class II MHC-mediated adhesion"</a>. <i>J. Immunol</i>. 144 (2): 526–31. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.4049%2Fjimmunol.144.2.526">10.4049/jimmunol.144.2.526</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/1967269">1967269</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:23550626">23550626</a>.</li> <li>Bowman MR, MacFerrin KD, Schreiber SL, Burakoff SJ (1991). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC55099">"Identification and structural analysis of residues in the V1 region of CD4 involved in interaction with human immunodeficiency virus envelope glycoprotein gp120 and class II major histocompatibility complex molecules"</a>. <i>Proc. Natl. Acad. Sci. U.S.A</i>. 87 (22): 9052–6. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1073%2Fpnas.87.22.9052">10.1073/pnas.87.22.9052</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC55099">55099</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/1978941">1978941</a>.</li> <li>Lee KW, Johnson AH, Hurley CK (1990). "Two divergent routes of evolution gave rise to the DRw13 haplotypes". <i>J. Immunol</i>. 145 (9): 3119–25. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.4049%2Fjimmunol.145.9.3119">10.4049/jimmunol.145.9.3119</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/2212675">2212675</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:19868100">19868100</a>.</li> <li>Todd JA, Fukui Y, Kitagawa T, Sasazuki T (1990). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC53417">"The A3 allele of the HLA-DQA1 locus is associated with susceptibility to type 1 diabetes in Japanese"</a>. <i>Proc. Natl. Acad. Sci. U.S.A</i>. 87 (3): 1094–8. <a href="/facts/Bibcode_(identifier)/9HtdQSGB">Bibcode</a>:<a href="https://ui.adsabs.harvard.edu/abs/1990PNAS...87.1094T">1990PNAS...87.1094T</a>. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1073%2Fpnas.87.3.1094">10.1073/pnas.87.3.1094</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC53417">53417</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/2300572">2300572</a>.</li> <li>Kao HT, Gregersen PK, Tang JC, et al. (1989). <a href="https://doi.org/10.4049%2Fjimmunol.142.5.1743">"Molecular analysis of the HLA class II genes in two DRw6-related haplotypes, DRw13 DQw1 and DRw14 DQw3"</a>. <i>J. Immunol</i>. 142 (5): 1743–7. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.4049%2Fjimmunol.142.5.1743">10.4049/jimmunol.142.5.1743</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/2493052">2493052</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:31820831">31820831</a>.</li> <li>Gyllensten UB, Erlich HA (1990). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC298627">"Ancient roots for polymorphism at the HLA-DQ alpha locus in primates"</a>. <i>Proc. Natl. Acad. Sci. U.S.A</i>. 86 (24): 9986–90. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1073%2Fpnas.86.24.9986">10.1073/pnas.86.24.9986</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC298627">298627</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/2513578">2513578</a>.</li> <li>Clayton LK, Sieh M, Pious DA, Reinherz EL (1989). <a href="https://doi.org/10.1038%2F339548a0">"Identification of human CD4 residues affecting class II MHC versus HIV-1 gp120 binding"</a>. <i>Nature</i>. 339 (6225): 548–51. <a href="/facts/Bibcode_(identifier)/9HtdQSGB">Bibcode</a>:<a href="https://ui.adsabs.harvard.edu/abs/1989Natur.339..548C">1989Natur.339..548C</a>. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2F339548a0">10.1038/339548a0</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/2543930">2543930</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:4246781">4246781</a>.</li> <li>Jonsson AK, Andersson L, Rask L (1989). "Complete sequences of DQA1 and DQB1 cDNA clones corresponding to the DQw4 specificity". <i>Immunogenetics</i>. 30 (3): 232–4. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1007%2FBF02421214">10.1007/BF02421214</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/2777341">2777341</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:28206170">28206170</a>.</li> <li>Diamond DC, Sleckman BP, Gregory T, et al. (1988). <a href="https://doi.org/10.4049%2Fjimmunol.141.11.3715">"Inhibition of CD4+ T cell function by the HIV envelope protein, gp120"</a>. <i>J. Immunol</i>. 141 (11): 3715–7. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.4049%2Fjimmunol.141.11.3715">10.4049/jimmunol.141.11.3715</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/2846691">2846691</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:2607172">2607172</a>.</li> <li>Turco E, Care A, Compagnone-Post P, et al. (1987). "Allelic forms of the alpha- and beta-chain genes encoding DQw1-positive heterodimers". <i>Immunogenetics</i>. 26 (4–5): 282–90. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1007%2FBF00346523">10.1007/BF00346523</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/2888727">2888727</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:44734030">44734030</a>.</li> <li>Hurley CK, Gregersen P, Steiner N, et al. (1988). <a href="https://doi.org/10.4049%2Fjimmunol.140.3.885">"Polymorphism of the HLA-D region in American blacks. A DR3 haplotype generated by recombination"</a>. <i>J. 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"International Cell Exchange, 1994". Clin Transpl: 467–88. PMID 7547576. <a href="/wiki/PMID_(identifier)" target="_blank">/wiki/PMID_(identifier)</a> <a href="#fnref:4" class="footnote-back-ref">↩</a></p></li> </ol>