LOCUS       NM_002123               1605 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens major histocompatibility complex, class II, DQ beta 1
            (HLA-DQB1), transcript variant 1, mRNA.
ACCESSION   NM_002123 XM_001722253 XM_001723447
VERSION     NM_002123.5
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 1605)
  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 1605)
  AUTHORS   Tan,Y., Huang,Y., Guo,L., Zhou,L., Zhu,K., Li,Y. and Tan,J.
  TITLE     HLA-DQB1 Allele Polymorphism Associated with Oral Submucous
            Fibrosis in Hunan, China
  JOURNAL   J Immunol Res 2024, 8757860 (2024)
   PUBMED   38799118
  REMARK    GeneRIF: HLA-DQB1 Allele Polymorphism Associated with Oral
            Submucous Fibrosis in Hunan, China.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1605)
  AUTHORS   Liu,X., Zheng,X., Shu,Y., Qu,X., Wang,Q., Liu,X., Hu,F.Y., Liu,J.,
            Lian,Y., He,B.M., Li,C., Zhou,D., Qiu,W., Sun,L. and Hong,Z.
  TITLE     Genome-Wide Association Study Identifies IFIH1 and HLA-DQB1*05:02
            Loci Associated With Anti-NMDAR Encephalitis
  JOURNAL   Neurol Neuroimmunol Neuroinflamm 11 (3), e200221 (2024)
   PUBMED   38579189
  REMARK    GeneRIF: Genome-Wide Association Study Identifies IFIH1 and
            HLA-DQB1*05:02 Loci Associated With Anti-NMDAR Encephalitis.
REFERENCE   4  (bases 1 to 1605)
  AUTHORS   Gao,Y., Su,B., Luo,Y., Tian,Y., Hong,S., Gao,S., Xie,J. and
            Zheng,X.
  TITLE     HLA-C*07:01 and HLA-DQB1*02:01 protect against white matter
            hyperintensities and deterioration of cognitive function: A
            population-based cohort study
  JOURNAL   Brain Behav Immun 115, 250-257 (2024)
   PUBMED   37884160
  REMARK    GeneRIF: HLA-C*07:01 and HLA-DQB1*02:01 protect against white
            matter hyperintensities and deterioration of cognitive function: A
            population-based cohort study.
REFERENCE   5  (bases 1 to 1605)
  AUTHORS   Bnina,A.B., El Bahri,Y., Cheybi,A., Lazrek,N.B., Chouchane,S.,
            Omezzine,A., Naija,W. and Bouatay,A.
  TITLE     Association between Human Leukocyte Antigen (HLA) DQB1*06 and HLA
            DQB1*03 and adverse outcomes in a group of critically ill patients
            with COVID-19 in Tunisia: a cross-sectional study
  JOURNAL   Pan Afr Med J 45, 109 (2023)
   PUBMED   37719057
  REMARK    GeneRIF: Association between Human Leukocyte Antigen (HLA) DQB1*06
            and HLA DQB1*03 and adverse outcomes in a group of critically ill
            patients with COVID-19 in Tunisia: a cross-sectional study.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1605)
  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 1605)
  AUTHORS   Haider,N., Neuman,R., Foster,C.S. and Ahmed,A.R.
  TITLE     Report on the sequence of DQB1*0301 gene in ocular cicatricial
            pemphigoid patients
  JOURNAL   Curr Eye Res 11 (12), 1233-1238 (1992)
   PUBMED   1490342
REFERENCE   8  (bases 1 to 1605)
  AUTHORS   Singal,D.P., Qiu,X. and Sood,S.K.
  TITLE     Molecular analysis of novel HLA-DR2.DQwl haplotypes in Asian
            Indians
  JOURNAL   Tissue Antigens 40 (2), 104-107 (1992)
   PUBMED   1412415
REFERENCE   9  (bases 1 to 1605)
  AUTHORS   Fronek,Z., Timmerman,L.A. and McDevitt,H.O.
  TITLE     A rare HLA DQB allele sequenced from patients with systemic lupus
            erythematosus
  JOURNAL   Hum Immunol 30 (2), 77-84 (1991)
   PUBMED   2022497
REFERENCE   10 (bases 1 to 1605)
  AUTHORS   Bugawan,T.L. and Erlich,H.A.
  TITLE     Rapid typing of HLA-DQB1 DNA polymorphism using nonradioactive
            oligonucleotide probes and amplified DNA
  JOURNAL   Immunogenetics 33 (3), 163-170 (1991)
   PUBMED   2010218
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M20432.1, AK296613.1 and
            BF510934.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_002123.4.
            
            Summary: HLA-DQB1 belongs to the HLA class II beta chain paralogs.
            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 antigen presenting cells (APC: B lymphocytes,
            dendritic cells, macrophages). The beta chain is approximately
            26-28 kDa and it contains six exons. Exon 1 encodes the leader
            peptide, exons 2 and 3 encode the two extracellular domains, exon 4
            encodes the transmembrane domain and exon 5 encodes 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. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Sep 2011].
            
            Transcript Variant: This variant (1) is the predominant transcript
            and encodes isoform 1. This transcript represents the
            DQB1*06:02:01:01 allele of the HLA-DQB1 gene, as represented in the
            assembled chromosome 6 in the primary assembly of the reference
            genome.
            
            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 :: SRR1163657.119415.1,
                                           SRR1163657.203698.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000434651.7/ ENSP00000407332.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-908               M20432.1           10-917
            909-1501            AK296613.1         920-1512
            1502-1605           BF510934.1         20-123              c
FEATURES             Location/Qualifiers
     source          1..1605
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.32"
     gene            1..1605
                     /gene="HLA-DQB1"
                     /gene_synonym="CELIAC1; HLA-DQB; IDDM1"
                     /note="major histocompatibility complex, class II, DQ beta
                     1"
                     /db_xref="GeneID:3119"
                     /db_xref="HGNC:HGNC:4944"
                     /db_xref="MIM:604305"
     exon            1..159
                     /gene="HLA-DQB1"
                     /gene_synonym="CELIAC1; HLA-DQB; IDDM1"
                     /inference="alignment:Splign:2.1.0"
     CDS             51..836
                     /gene="HLA-DQB1"
                     /gene_synonym="CELIAC1; HLA-DQB; IDDM1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; HLA class II histocompatibility antigen, DQ
                     beta 1 chain; MHC class II DQ beta chain; MHC class II
                     antigen DQB1; MHC class II HLA-DQ beta glycoprotein; MHC
                     class II antigen HLA-DQ-beta-1"
                     /codon_start=1
                     /product="HLA class II histocompatibility antigen, DQ beta
                     1 chain isoform 1 precursor"
                     /protein_id="NP_002114.3"
                     /db_xref="CCDS:CCDS43451.1"
                     /db_xref="GeneID:3119"
                     /db_xref="HGNC:HGNC:4944"
                     /db_xref="MIM:604305"
                     /translation="MSWKKALRIPGDLRVATVTLMLAMLSSLLAEGRDSPEDFVFQFK
                     GMCYFTNGTERVRLVTRYIYNREEYARFDSDVGVYRAVTPQGRPDAEYWNSQKEVLEG
                     TRAELDTVCRHNYEVAFRGILQRRVEPTVTISPSRTEALNHHNLLVCSVTDFYPGQIK
                     VRWFRNDQEETAGVVSTPLIRNGDWTFQILVMLEMTPQRGDVYTCHVEHPSLQSPITV
                     EWRAQSESAQSKMLSGVGGFVLGLIFLGLGLIIRQRSQKGLLH"
     exon            160..429
                     /gene="HLA-DQB1"
                     /gene_synonym="CELIAC1; HLA-DQB; IDDM1"
                     /inference="alignment:Splign:2.1.0"
     exon            430..711
                     /gene="HLA-DQB1"
                     /gene_synonym="CELIAC1; HLA-DQB; IDDM1"
                     /inference="alignment:Splign:2.1.0"
     exon            712..822
                     /gene="HLA-DQB1"
                     /gene_synonym="CELIAC1; HLA-DQB; IDDM1"
                     /inference="alignment:Splign:2.1.0"
     exon            823..1605
                     /gene="HLA-DQB1"
                     /gene_synonym="CELIAC1; HLA-DQB; IDDM1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1166..1171
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HLA-DQB1"
                     /gene_synonym="CELIAC1; HLA-DQB; IDDM1"
                     /note="hexamer: ATTAAA"
     polyA_site      1192
                     /gene="HLA-DQB1"
                     /gene_synonym="CELIAC1; HLA-DQB; IDDM1"
                     /note="major polyA site"
     regulatory      1579..1584
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HLA-DQB1"
                     /gene_synonym="CELIAC1; HLA-DQB; IDDM1"
                     /note="hexamer: AATAAA"
     polyA_site      1605
                     /gene="HLA-DQB1"
                     /gene_synonym="CELIAC1; HLA-DQB; IDDM1"
ORIGIN      
        1 atcaggtccg agctgtgttg actaccactg cttttccctt cgtctcagtt atgtcttgga
       61 agaaggcttt gcggatcccc ggagaccttc gggtagcaac tgtcaccttg atgctggcga
      121 tgctgagctc cctactggct gagggcagag actctcccga ggatttcgtg ttccagttta
      181 agggcatgtg ctacttcacc aacgggacgg agcgcgtgcg tcttgtgacc agatacatct
      241 ataaccgaga ggagtacgcg cgcttcgaca gcgacgtggg ggtgtaccgc gcggtgacgc
      301 cgcaggggcg gcctgatgcc gagtactgga acagccagaa ggaagtcctg gaggggaccc
      361 gggcggagtt ggacacggtg tgcagacaca actacgaggt ggcgttccgc gggatcttgc
      421 agaggagagt ggagcccaca gtgaccatct ccccatccag gacagaggcc ctcaaccacc
      481 acaacctgct ggtctgctcg gtgacagatt tctatccagg ccagatcaaa gtccggtggt
      541 ttcggaatga tcaggaggag acagccggcg ttgtgtccac cccccttatt aggaatggtg
      601 actggacttt ccagatcctg gtgatgctgg aaatgactcc ccagcgtgga gatgtctaca
      661 cctgccacgt ggagcacccc agcctccaga gccccatcac cgtggagtgg cgggctcagt
      721 ctgaatctgc ccagagcaag atgctgagtg gcgttggagg cttcgtgctg gggctgatct
      781 tccttgggct gggccttatc atccgtcaaa ggagtcagaa agggcttctg cactgactcc
      841 tgagactatt ttaactagga ttggttatca ctcttctgtg atgcctgctt atgcctgccc
      901 agaattccca gctgcctgtg tcagcttgtc cccctgagat caaagtccta cagtggctgt
      961 cacgcagcca ccaggtcatc tcctttcatc cccaccccaa ggcgctggct gtgactctgc
     1021 ttcctgcact gacccagagc ctctgcctgt gcatggccag ctgcgtctac tcaggtccca
     1081 aggggtttct gtttctattc tttcctcaga ctgctcaaga gaagcacatg aaaaacatta
     1141 cctgacttta gagctttttt acataattaa acatgatcct gagttatctg tattctgaac
     1201 tttcttaatt gagaagaggc aggaaatcac tgcagaatga aggaacatcc cttgaggtga
     1261 cccagcaaac ctgtggccag aaggaggatt gtaccttgaa aagacactga aagcattttg
     1321 gggtgtgaag taagggtggg cagaggaggt agaaaataat tcaattgtcg catcattcat
     1381 ggttctttaa tactgatgct cagtgcattg gccttagaat atcccagcct ctcttctggt
     1441 ttggtgagtg ctgtgtaaat aagcatggta gaattgtttg gagacatata tagtgatcct
     1501 tggtcactgg tgtttcaaac attctggaaa gtcacatcga tcaagaatat tttttatttt
     1561 taagaaagca taaccagcaa taaaaatact atttttgagt ctaaa
//
