LOCUS       NM_002122               1574 bp    mRNA    linear   PRI 07-FEB-2025
DEFINITION  Homo sapiens major histocompatibility complex, class II, DQ alpha 1
            (HLA-DQA1), mRNA.
ACCESSION   NM_002122 XM_003846467 XM_351654
VERSION     NM_002122.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1574)
  AUTHORS   Tanaka,K., Meguro,A., Hara,Y., Endo,L., Izawa,A., Muraoka,S.,
            Kaneko,A., Somekawa,K., Hirata,M., Otsu,Y., Matsumoto,H.,
            Nagasawa,R., Kubo,S., Murohashi,K., Aoki,A., Fujii,H., Watanabe,K.,
            Horita,N., Kato,H., Kobayashi,N., Takeuchi,I., Nakajima,A.,
            Inoko,H., Mizuki,N. and Kaneko,T.
  TITLE     HLA-DQA1*01:03 and DQB1*06:01 are risk factors for severe COVID-19
            pneumonia
  JOURNAL   HLA 104 (1), e15609 (2024)
   PUBMED   39041300
  REMARK    GeneRIF: HLA-DQA1*01:03 and DQB1*06:01 are risk factors for severe
            COVID-19 pneumonia.
REFERENCE   2  (bases 1 to 1574)
  AUTHORS   Liu,Z., Luo,Y., Kirimunda,S., Verboom,M., Onabajo,O.O.,
            Gouveia,M.H., Ogwang,M.D., Kerchan,P., Reynolds,S.J., Tenge,C.N.,
            Were,P.A., Kuremu,R.T., Wekesa,W.N., Masalu,N., Kawira,E.,
            Kinyera,T., Otim,I., Legason,I.D., Nabalende,H., Dhudha,H.,
            Ayers,L.W., Bhatia,K., Goedert,J.J., Cole,N., Luo,W., Liu,J.,
            Manning,M., Hicks,B., Prokunina-Olsson,L., Chagaluka,G.,
            Johnston,W.T., Mutalima,N., Borgstein,E., Liomba,G.N., Kamiza,S.,
            Mkandawire,N., Mitambo,C., Molyneux,E.M., Newton,R., Hsing,A.W.,
            Mensah,J.E., Adjei,A.A., Hutchinson,A., Carrington,M., Yeager,M.,
            Blasczyk,R., Chanock,S.J., Raychaudhuri,S. and Mbulaiteye,S.M.
  TITLE     Human leukocyte antigen-DQA1*04:01 and rs2040406 variants are
            associated with elevated risk of childhood Burkitt lymphoma
  JOURNAL   Commun Biol 7 (1), 41 (2024)
   PUBMED   38182727
  REMARK    GeneRIF: Human leukocyte antigen-DQA1*04:01 and rs2040406 variants
            are associated with elevated risk of childhood Burkitt lymphoma.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1574)
  AUTHORS   Nogawa,S., Kanamori,H., Tokuda,K., Kawafune,K., Chijiiwa,M.,
            Saito,K. and Takahashi,S.
  TITLE     A web-based genome-wide association study reveals the
            susceptibility loci of common adverse events following COVID-19
            vaccination in the Japanese population
  JOURNAL   Sci Rep 13 (1), 20820 (2023)
   PUBMED   38012279
  REMARK    GeneRIF: A web-based genome-wide association study reveals the
            susceptibility loci of common adverse events following COVID-19
            vaccination in the Japanese population.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1574)
  AUTHORS   Buianova,A.A., Proskura,M.V., Cheranev,V.V., Belova,V.A.,
            Shmitko,A.O., Pavlova,A.S., Vasiliadis,I.A., Suchalko,O.N.,
            Rebrikov,D.V., Petrosyan,E.K. and Korostin,D.O.
  TITLE     Candidate Genes for IgA Nephropathy in Pediatric Patients:
            Exome-Wide Association Study
  JOURNAL   Int J Mol Sci 24 (21), 15984 (2023)
   PUBMED   37958966
  REMARK    GeneRIF: Candidate Genes for IgA Nephropathy in Pediatric Patients:
            Exome-Wide Association Study.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1574)
  AUTHORS   Shimoda,F., Naito,T., Kakuta,Y., Kawai,Y., Tokunaga,K.,
            Shimoyama,Y., Moroi,R., Shiga,H., Nagasaki,M., Kinouchi,Y. and
            Masamune,A.
  CONSRTM   NCBN Controls WGS Consortium
  TITLE     HLA-DQA1*05 and upstream variants of PPARGC1B are associated with
            infliximab persistence in Japanese Crohn's disease patients
  JOURNAL   Pharmacogenomics J 23 (6), 141-148 (2023)
   PUBMED   37460671
  REMARK    GeneRIF: HLA-DQA1*05 and upstream variants of PPARGC1B are
            associated with infliximab persistence in Japanese Crohn's disease
            patients.
REFERENCE   6  (bases 1 to 1574)
  AUTHORS   Taylor,A.K., Lebwohl,B., Snyder,C.L. and Green,P.H.R.
  TITLE     Celiac Disease
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301720
REFERENCE   7  (bases 1 to 1574)
  AUTHORS   Marsh,S.G. and Bodmer,J.G.
  TITLE     HLA class II nucleotide sequences, 1992
  JOURNAL   Tissue Antigens 40 (5), 229-243 (1992)
   PUBMED   1362295
  REMARK    Correction to:[Tissue Antigens. 1992 Apr;39(4):161-73. doi:
            10.1111/j.1399-0039.1992.tb01932.x.. PMID: 1529427]
REFERENCE   8  (bases 1 to 1574)
  AUTHORS   Lee,K.W., Johnson,A.H. and Hurley,C.K.
  TITLE     Two divergent routes of evolution gave rise to the DRw13 haplotypes
  JOURNAL   J Immunol 145 (9), 3119-3125 (1990)
   PUBMED   2212675
REFERENCE   9  (bases 1 to 1574)
  AUTHORS   Todd,J.A., Fukui,Y., Kitagawa,T. and Sasazuki,T.
  TITLE     The A3 allele of the HLA-DQA1 locus is associated with
            susceptibility to type 1 diabetes in Japanese
  JOURNAL   Proc Natl Acad Sci U S A 87 (3), 1094-1098 (1990)
   PUBMED   2300572
REFERENCE   10 (bases 1 to 1574)
  AUTHORS   Kao,H.T., Gregersen,P.K., Tang,J.C., Takahashi,T., Wang,C.Y. and
            Silver,J.
  TITLE     Molecular analysis of the HLA class II genes in two DRw6-related
            haplotypes, DRw13 DQw1 and DRw14 DQw3
  JOURNAL   J Immunol 142 (5), 1743-1747 (1989)
   PUBMED   2493052
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK130811.1, M20431.1,
            BU617246.1, AF533896.1 and AL662789.11.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 31, 2019 this sequence version replaced NM_002122.4.
            
            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, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK130838.1, AK130811.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000343139.11/ ENSP00000339398.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-119               AK130811.1         1-119
            120-1054            M20431.1           1-935
            1055-1151           BU617246.1         16-112              c
            1152-1542           AF533896.1         542-932
            1543-1574           AL662789.11        55547-55578
FEATURES             Location/Qualifiers
     source          1..1574
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.32"
     gene            1..1574
                     /gene="HLA-DQA1"
                     /gene_synonym="CELIAC1; DQ-A1; DQA1; HLA-DQA; HLA-DQA1*;
                     HLA-DQB1"
                     /note="major histocompatibility complex, class II, DQ
                     alpha 1"
                     /db_xref="GeneID:3117"
                     /db_xref="HGNC:HGNC:4942"
                     /db_xref="MIM:146880"
     exon            1..135
                     /gene="HLA-DQA1"
                     /gene_synonym="CELIAC1; DQ-A1; DQA1; HLA-DQA; HLA-DQA1*;
                     HLA-DQB1"
                     /inference="alignment:Splign:2.1.0"
     exon            136..384
                     /gene="HLA-DQA1"
                     /gene_synonym="CELIAC1; DQ-A1; DQA1; HLA-DQA; HLA-DQA1*;
                     HLA-DQB1"
                     /inference="alignment:Splign:2.1.0"
     exon            385..666
                     /gene="HLA-DQA1"
                     /gene_synonym="CELIAC1; DQ-A1; DQA1; HLA-DQA; HLA-DQA1*;
                     HLA-DQB1"
                     /inference="alignment:Splign:2.1.0"
     exon            667..841
                     /gene="HLA-DQA1"
                     /gene_synonym="CELIAC1; DQ-A1; DQA1; HLA-DQA; HLA-DQA1*;
                     HLA-DQB1"
                     /inference="alignment:Splign:2.1.0"
     exon            842..1574
                     /gene="HLA-DQA1"
                     /gene_synonym="CELIAC1; DQ-A1; DQA1; HLA-DQA; HLA-DQA1*;
                     HLA-DQB1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1132..1137
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HLA-DQA1"
                     /gene_synonym="CELIAC1; DQ-A1; DQA1; HLA-DQA; HLA-DQA1*;
                     HLA-DQB1"
                     /note="hexamer: AATAAA"
     polyA_site      1155
                     /gene="HLA-DQA1"
                     /gene_synonym="CELIAC1; DQ-A1; DQA1; HLA-DQA; HLA-DQA1*;
                     HLA-DQB1"
                     /note="major polyA site"
     regulatory      1463..1468
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HLA-DQA1"
                     /gene_synonym="CELIAC1; DQ-A1; DQA1; HLA-DQA; HLA-DQA1*;
                     HLA-DQB1"
                     /note="hexamer: AATAAG"
     polyA_site      1484
                     /gene="HLA-DQA1"
                     /gene_synonym="CELIAC1; DQ-A1; DQA1; HLA-DQA; HLA-DQA1*;
                     HLA-DQB1"
     regulatory      1554..1559
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HLA-DQA1"
                     /gene_synonym="CELIAC1; DQ-A1; DQA1; HLA-DQA; HLA-DQA1*;
                     HLA-DQB1"
                     /note="hexamer: AGTAAA"
     polyA_site      1574
                     /gene="HLA-DQA1"
                     /gene_synonym="CELIAC1; DQ-A1; DQA1; HLA-DQA; HLA-DQA1*;
                     HLA-DQB1"
ORIGIN      
        1 acaattactc tacagctcag aacaccaact gctgaggctg ccttgggaag aggatgatcc
       61 taaacaaagc tctgctgctg ggggccctcg ctctgaccac cgtgatgagc ccctgtggag
      121 gtgaagacat tgtggctgac cacgttgcct cttgtggtgt aaacttgtac cagttttacg
      181 gtccctctgg ccagtacacc catgaatttg atggagatga gcagttctac gtggacctgg
      241 agaggaagga gactgcctgg cggtggcctg agttcagcaa atttggaggt tttgacccgc
      301 agggtgcact gagaaacatg gctgtggcaa aacacaactt gaacatcatg attaaacgct
      361 acaactctac cgctgctacc aatgaggttc ctgaggtcac agtgttttcc aagtctcccg
      421 tgacactggg tcagcccaac accctcattt gtcttgtgga caacatcttt cctcctgtgg
      481 tcaacatcac atggctgagc aatgggcagt cagtcacaga aggtgtttct gagaccagct
      541 tcctctccaa gagtgatcat tccttcttca agatcagtta cctcaccttc ctcccttctg
      601 ctgatgagat ttatgactgc aaggtggagc actggggcct ggaccagcct cttctgaaac
      661 actgggagcc tgagattcca gcccctatgt cagagctcac agagactgtg gtctgtgccc
      721 tggggttgtc tgtgggcctc atgggcattg tggtgggcac tgtcttcatc atccaaggcc
      781 tgcgttcagt tggtgcttcc agacaccaag ggccattgtg aatcccatcc tggaagggaa
      841 ggtgcatcgc catctacagg agcagaagaa tggacttgct aaatgaccta gcactattct
      901 ctggcccgat ttatcatatc ccttttctcc tccaaatatt tctcctctca ccttttctct
      961 gggacttaag ctgctatatc ccctcagagc tcacaaatgc ctttacattc tttccctgac
     1021 ctcctgattt tttttttctt ttctcaaatg ttacctacaa agacatgcct ggggtaagcc
     1081 acccggctac ctaattcctc agtaacctcc atctaaaatc tccaaggaag caataaattc
     1141 cttttatgag atctatgtca aatttttcca tctttcatcc agggctgact gaaactatgg
     1201 ctaataattg gggtactctt atgtttcaat ccaatttaac ctcatttccc agatcatttt
     1261 tcatgtccag taacacagaa gccaccaagt acagtatagc ctgataatat gttgatttct
     1321 tagctgacat taatatttct tgcttccttg tgttcccacc cttggcactg ccacccaccc
     1381 ctcaattcag gcaacaatga aattaatgga taccgtctgc ccttggccca gaattgttat
     1441 agcaaaaatt ttagaaccaa aaaataagtc tgtactaatt tcaatgtggc ttttaaaagt
     1501 atgacagaga aataagttag gataaaggaa atttgaatct caaaaatatc aaaagtaaaa
     1561 atgtattctc aaaa
//
