Homo sapiens major histocompatibility complex, class II, DQ alpha 1 (HLA-DQA1), mRNA.
| RefSeq Version | NM_002122.3, 52426772 |
| Length | 1542 bp |
| Structure | linear |
| Update Date | 01-MAY-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens major histocompatibility complex, class II, DQ alpha 1 (HLA-DQA1), mRNA. |
| Product | HLA class II histocompatibility antigen, DQ alpha 1 chain precursor |
| Comment | Summary: HLA-DQA1 belongs to the HLA class II alpha chain paralogues. The 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 antigen presenting cells (APC: B Lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa. It is encoded by 5 exons; exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. [provided by RefSeq]. |
| RefSeq | NP_002113.2 |
| CDS | 54..821 | Exon (1) | 1..135 | Exon (2) | 1..135 | Exon (3) | 136..384 | Exon (4) | 385..666 | Exon (5) | 667..841 | Exon (6) | 842..1542 |
| Translation | MILNKALLLGALALTTVMSPCGGEDIVADHVASCGVNLYQFYGPSGQYTHEFDGDEQFYV
DLERKETAWRWPEFSKFGGFDPQGALRNMAVAKHNLNIMIKRYNSTAATNEVPEVTVFSK
SPVTLGQPNTLICLVDNIFPPVVNITWLSNGQSVTEGVSETSFLSKSDHSFFKISYLTFL
PSADEIYDCKVEHWGLDQPLLKHWEPEIPAPMSELTETVVCALGLSVGLMGIVVGTVFII
QGLRSVGASRHQGPL
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| Gene Symbol | HLA-DQA1 |
| Gene Synonym | CD; CELIAC1; DQ-A1; FLJ27088; FLJ27328; GSE; HLA-DQA; MGC149527 |
| Chromosome | 6 |
| Locus Map | 6p21.3 |
| All Transcripts | NM_002122 |
| Title | Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production . |
| Author | Chung,S.A., Taylor,K.E., Graham,R.R., Nititham,J., Lee,A.T., Ortmann,W.A., Jacob,C.O., Alarcon-Riquelme,M.E., Tsao,B.P., Harley,J.B., Gaffney,P.M., Moser,K.L., Petri,M., Demirci,F.Y., Kamboh,M.I., Manzi,S., Gregersen,P.K., Langefeld,C.D., Behrens,T.W. and Criswell,L.A. |
| Journal | PLoS Genet. 7 (3), E1001323 (2011) |
| Title | Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47 . |
| Author | Anderson,C.A., Boucher,G., Lees,C.W., Franke,A., D'Amato,M., Taylor,K.D., Lee,J.C., Goyette,P., Imielinski,M., Latiano,A., Lagace,C., Scott,R., Amininejad,L., Bumpstead,S., Baidoo,L., Baldassano,R.N., Barclay,M., Bayless,T.M., Brand,S., Buning,C., Colombel,J.F., Denson,L.A., De Vos,M., Dubinsky,M., Edwards,C., Ellinghaus,D., Fehrmann,R.S., Floyd,J.A., Florin,T., Franchimont,D., Franke,L., Georges,M., Glas,J., Glazer,N.L., Guthery,S.L., Haritunians,T., Hayward,N.K., Hugot,J.P., Jobin,G., Laukens,D., Lawrance,I., Lemann,M., Levine,A., Libioulle,C., Louis,E., McGovern,D.P., Milla,M., Montgomery,G.W., Morley,K.I., Mowat,C., Ng,A., Newman,W., Ophoff,R.A., Papi,L., Palmieri,O., Peyrin-Biroulet,L., Panes,J., Phillips,A., Prescott,N.J., Proctor,D.D., Roberts,R., Russell,R., Rutgeerts,P., Sanderson,J., Sans,M., Schumm,P., Seibold,F., Sharma,Y., Simms,L.A., Seielstad,M., Steinhart,A.H., Targan,S.R., van den Berg,L.H., Vatn,M., Verspaget,H., Walters,T., Wijmenga,C., Wilson,D.C., Westra,H.J., Xavier,R.J., Zhao,Z.Z., Ponsioen,C.Y., Andersen,V., Torkvist,L., Gazouli,M., Anagnou,N.P., Karlsen,T.H., Kupcinskas,L., Sventoraityte,J., Mansfield,J.C., Kugathasan,S., Silverberg,M.S., Halfvarson,J., Rotter,J.I., Mathew,C.G., Griffiths,A.M., Gearry,R., Ahmad,T., Brant,S.R., Chamaillard,M., Satsangi,J., Cho,J.H., Schreiber,S., Daly,M.J., Barrett,J.C., Parkes,M., Annese,V., Hakonarson,H., Radford-Smith,G., Duerr,R.H., Vermeire,S., Weersma,R.K. and Rioux,J.D. |
| Journal | Nat. Genet. 43 (3), 246-252 (2011) |
| Title | Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy . |
| Author | Stanescu,H.C., Arcos-Burgos,M., Medlar,A., Bockenhauer,D., Kottgen,A., Dragomirescu,L., Voinescu,C., Patel,N., Pearce,K., Hubank,M., Stephens,H.A., Laundy,V., Padmanabhan,S., Zawadzka,A., Hofstra,J.M., Coenen,M.J., den Heijer,M., Kiemeney,L.A., Bacq-Daian,D., Stengel,B., Powis,S.H., Brenchley,P., Feehally,J., Rees,A.J., Debiec,H., Wetzels,J.F., Ronco,P., Mathieson,P.W. and Kleta,R. |
| Journal | N. Engl. J. Med. 364 (7), 616-626 (2011) |
| Title | Clinical and genetic characteristics of patients with type 1 diabetes associated with interferon therapy . |
| Author | Nakanishi,K. and Saitoh,S. |
| Journal | Diabetes Care 34 (2), 471-473 (2011) |
| Title | Genome-wide association study identifies susceptibility loci for IgA nephropathy . |
| Author | Gharavi,A.G., Kiryluk,K., Choi,M., Li,Y., Hou,P., Xie,J., Sanna-Cherchi,S., Men,C.J., Julian,B.A., Wyatt,R.J., Novak,J., He,J.C., Wang,H., Lv,J., Zhu,L., Wang,W., Wang,Z., Yasuno,K., Gunel,M., Mane,S., Umlauf,S., Tikhonova,I., Beerman,I., Savoldi,S., Magistroni,R., Ghiggeri,G.M., Bodria,M., Lugani,F., Ravani,P., Ponticelli,C., Allegri,L., Boscutti,G., Frasca,G., Amore,A., Peruzzi,L., Coppo,R., Izzi,C., Viola,B.F., Prati,E., Salvadori,M., Mignani,R., Gesualdo,L., Bertinetto,F., Mesiano,P., Amoroso,A., Scolari,F., Chen,N., Zhang,H. and Lifton,R.P. |
| Journal | Nat. Genet. 43 (4), 321-327 (2011) |
| Title | HLA class II nucleotide sequences, 1992 . |
| Author | Marsh,S.G. and Bodmer,J.G. |
| Journal | Tissue Antigens 40 (5), 229-243 (1992) |
| Title | Two divergent routes of evolution gave rise to the DRw13 haplotypes . |
| Author | Lee,K.W., Johnson,A.H. and Hurley,C.K. |
| Journal | J. Immunol. 145 (9), 3119-3125 (1990) |
| Title | The A3 allele of the HLA-DQA1 locus is associated with susceptibility to type 1 diabetes in Japanese . |
| Author | Todd,J.A., Fukui,Y., Kitagawa,T. and Sasazuki,T. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 87 (3), 1094-1098 (1990) |
| Title | Ancient roots for polymorphism at the HLA-DQ alpha locus in primates . |
| Author | Gyllensten,U.B. and Erlich,H.A. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 86 (24), 9986-9990 (1989) |
| Title | Molecular analysis of the HLA class II genes in two DRw6-related haplotypes, DRw13 DQw1 and DRw14 DQw3 . |
| Author | Kao,H.T., Gregersen,P.K., Tang,J.C., Takahashi,T., Wang,C.Y. and Silver,J. |
| Journal | J. Immunol. 142 (5), 1743-1747 (1989) |
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