LOCUS       NM_002124               1223 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens major histocompatibility complex, class II, DR beta 1
            (HLA-DRB1), transcript variant 1, mRNA.
ACCESSION   NM_002124 XM_001713867 XM_001722124 XM_001722127 XM_006725752
            XM_006725860 XM_024452554
VERSION     NM_002124.4
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 1223)
  AUTHORS   Skarlis,C., Markoglou,N., Gontika,M., Artemiadis,A., Pons,M.R.,
            Stefanis,L., Dalakas,M., Chrousos,G. and Anagnostouli,M.
  TITLE     The impact of HLA-DRB1 alleles in a Hellenic, Pediatric-Onset
            Multiple Sclerosis cohort: Implications on clinical and
            neuroimaging profile
  JOURNAL   Neurol Sci 45 (11), 5405-5411 (2024)
   PUBMED   38819529
  REMARK    GeneRIF: The impact of HLA-DRB1 alleles in a Hellenic,
            Pediatric-Onset Multiple Sclerosis cohort: Implications on clinical
            and neuroimaging profile.
REFERENCE   2  (bases 1 to 1223)
  AUTHORS   Li,X., Zhou,Q., Lu,Z., Huang,R., Lin,D., Xu,J., Yu,X. and Li,X.
  TITLE     Association of HLA-DRB1 alleles with status of antibodies to
            hepatitis B surface and e antigen
  JOURNAL   J Med Virol 96 (8), e29867 (2024)
   PUBMED   39169719
  REMARK    GeneRIF: Association of HLA-DRB1 alleles with status of antibodies
            to hepatitis B surface and e antigen.
REFERENCE   3  (bases 1 to 1223)
  AUTHORS   El-Gabalawy,H.
  TITLE     The Impact of Rheumatoid Arthritis on First Nations and How We Can
            Work With Communities to Prevent It
  JOURNAL   J Rheumatol 51 (Suppl 1), 3-9 (2024)
   PUBMED   38950968
  REMARK    GeneRIF: The Impact of Rheumatoid Arthritis on First Nations and
            How We Can Work With Communities to Prevent It.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1223)
  AUTHORS   Milosavic,M., Lilic,M. and Andric,Z.
  TITLE     Impact of human leucocyte antigen class II polymorphism on anti-red
            blood cell antibody development: Correlations and indications
  JOURNAL   Vox Sang 119 (7), 720-727 (2024)
   PUBMED   38596887
  REMARK    GeneRIF: Impact of human leucocyte antigen class II polymorphism on
            anti-red blood cell antibody development: Correlations and
            indications.
REFERENCE   5  (bases 1 to 1223)
  AUTHORS   Kohansal Vajari,M., Ehsan,M., Ghiasi,S., Fooladi,S., Karami,N.,
            Hassanshahi,G. and Fatemi,A.
  TITLE     Human Leukocyte Antigen Alleles (HLA-A, HLA-B, and HLA-DRB1) are
            associated with Acute Lymphoblastic Leukemia (ALL) : A Case-Control
            Study in a Sample of Iranian Population
  JOURNAL   Asian Pac J Cancer Prev 25 (5), 1507-1513 (2024)
   PUBMED   38809622
  REMARK    GeneRIF: Human Leukocyte Antigen Alleles (HLA-A, HLA-B, and
            HLA-DRB1) are associated with Acute Lymphoblastic Leukemia (ALL) :
            A Case-Control Study in a Sample of Iranian Population.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1223)
  AUTHORS   Tienari,P.J., Wikstrom,J., Sajantila,A., Palo,J. and Peltonen,L.
  TITLE     Genetic susceptibility to multiple sclerosis linked to myelin basic
            protein gene
  JOURNAL   Lancet 340 (8826), 987-991 (1992)
   PUBMED   1383661
REFERENCE   7  (bases 1 to 1223)
  AUTHORS   Troyanovsky,S.M., Leube,R.E. and Franke,W.W.
  TITLE     Characterization of the human gene encoding cytokeratin 17 and its
            expression pattern
  JOURNAL   Eur J Cell Biol 59 (1), 127-137 (1992)
   PUBMED   1281771
REFERENCE   8  (bases 1 to 1223)
  AUTHORS   Eberle,M. and Baxter-Lowe,L.A.
  TITLE     Molecular analysis of HLA-DRB1*08/12 alleles: identification of two
            additional alleles
  JOURNAL   Hum Immunol 34 (1), 24-30 (1992)
   PUBMED   1399719
REFERENCE   9  (bases 1 to 1223)
  AUTHORS   Kaneoka,H., Hsu,K.C., Takeda,Y., Sharp,G.C. and Hoffman,R.W.
  TITLE     Molecular genetic analysis of HLA-DR and HLA-DQ genes among
            anti-U1-70-kd autoantibody positive connective tissue disease
            patients
  JOURNAL   Arthritis Rheum 35 (1), 83-94 (1992)
   PUBMED   1370621
REFERENCE   10 (bases 1 to 1223)
  AUTHORS   Kenter,M., Otting,N., Anholts,J., Jonker,M., Schipper,R. and
            Bontrop,R.E.
  TITLE     Mhc-DRB diversity of the chimpanzee (Pan troglodytes)
  JOURNAL   Immunogenetics 37 (1), 1-11 (1992)
   PUBMED   1428007
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL713966.7, AK291987.1 and
            BC033827.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On or before Aug 13, 2020 this sequence version replaced
            XM_024452554.1, NM_002124.3.
            
            Summary: HLA-DRB1 belongs to the HLA class II beta chain paralogs.
            The class II molecule is a heterodimer consisting of an alpha (DRA)
            and a beta chain (DRB), 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. The beta chain is approximately 26-28
            kDa. It is encoded by 6 exons. Exon one 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 DR molecule the beta chain contains all the
            polymorphisms specifying the peptide binding specificities.
            Hundreds of DRB1 alleles have been described and some alleles have
            increased frequencies associated with certain diseases or
            conditions. For example, DRB1*1302 has been related to acute and
            chronic hepatitis B virus persistence. There are multiple
            pseudogenes of this gene. [provided by RefSeq, Jul 2020].
            
            Transcript Variant: This variant (1) represents the DRB1*15:01:01
            allele of the HLA-DRB1 gene, as represented in the assembled
            chromosome 6 in the primary assembly of the reference genome and
            the CHM1_1.1 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 :: AK225683.1, BC007920.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2147920, SAMEA2154405
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related    :: locus in the vicinity of
                                      disease-associated variant(s)
            MANE Ensembl match     :: ENST00000360004.6/ ENSP00000353099.5
            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
            1-12                AL713966.7         123778-123789       c
            13-63               AK291987.1         1-51
            64-1223             BC033827.1         1-1160
FEATURES             Location/Qualifiers
     source          1..1223
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.32"
     gene            1..1223
                     /gene="HLA-DRB1"
                     /gene_synonym="DRB1; HLA-DR1B; HLA-DRB; SS1"
                     /note="major histocompatibility complex, class II, DR beta
                     1"
                     /db_xref="GeneID:3123"
                     /db_xref="HGNC:HGNC:4948"
                     /db_xref="MIM:142857"
     exon            1..206
                     /gene="HLA-DRB1"
                     /gene_synonym="DRB1; HLA-DR1B; HLA-DRB; SS1"
                     /inference="alignment:Splign:2.1.0"
     exon            207..476
                     /gene="HLA-DRB1"
                     /gene_synonym="DRB1; HLA-DR1B; HLA-DRB; SS1"
                     /inference="alignment:Splign:2.1.0"
     exon            477..758
                     /gene="HLA-DRB1"
                     /gene_synonym="DRB1; HLA-DR1B; HLA-DRB; SS1"
                     /inference="alignment:Splign:2.1.0"
     exon            759..869
                     /gene="HLA-DRB1"
                     /gene_synonym="DRB1; HLA-DR1B; HLA-DRB; SS1"
                     /inference="alignment:Splign:2.1.0"
     exon            870..893
                     /gene="HLA-DRB1"
                     /gene_synonym="DRB1; HLA-DR1B; HLA-DRB; SS1"
                     /inference="alignment:Splign:2.1.0"
     exon            894..1223
                     /gene="HLA-DRB1"
                     /gene_synonym="DRB1; HLA-DR1B; HLA-DRB; SS1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1201..1206
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HLA-DRB1"
                     /gene_synonym="DRB1; HLA-DR1B; HLA-DRB; SS1"
                     /note="hexamer: ATTAAA"
     polyA_site      1223
                     /gene="HLA-DRB1"
                     /gene_synonym="DRB1; HLA-DR1B; HLA-DRB; SS1"
                     /note="major polyA site"
ORIGIN      
        1 agtaacttcc tccctataac ttggaatgtg ggtggagggg ttcatagttc tccctgagtg
       61 agacttgcct gcttctctgg cccctggtcc tgtcctgttc tccagcatgg tgtgtctgaa
      121 gctccctgga ggctcctgca tgacagcgct gacagtgaca ctgatggtgc tgagctcccc
      181 actggctttg tctggggaca cccgaccacg tttcctgtgg cagcctaaga gggagtgtca
      241 tttcttcaat gggacggagc gggtgcggtt cctggacaga tacttctata accaggagga
      301 gtccgtgcgc ttcgacagcg acgtggggga gttccgggcg gtgacggagc tggggcggcc
      361 tgacgctgag tactggaaca gccagaagga catcctggag caggcgcggg ccgcggtgga
      421 cacctactgc agacacaact acggggttgt ggagagcttc acagtgcagc ggcgagtcca
      481 acctaaggtg actgtatatc cttcaaagac ccagcccctg cagcaccaca acctcctggt
      541 ctgctctgtg agtggtttct atccaggcag cattgaagtc aggtggttcc tgaacggcca
      601 ggaagagaag gctgggatgg tgtccacagg cctgatccag aatggagact ggaccttcca
      661 gaccctggtg atgctggaaa cagttcctcg aagtggagag gtttacacct gccaagtgga
      721 gcacccaagc gtgacaagcc ctctcacagt ggaatggaga gcacggtctg aatctgcaca
      781 gagcaagatg ctgagtggag tcgggggctt tgtgctgggc ctgctcttcc ttggggccgg
      841 gctgttcatc tacttcagga atcagaaagg acactctgga cttcagccaa caggattcct
      901 gagctgaaat gcagatgacc acattcaagg aagaactttc tgccccggct ttgcaggatg
      961 aaaagctttc ctgcttggca gttattcttc cacaagagag ggctttctca ggacctggtt
     1021 gctactggtt cggcaactgc agaaaatgtc ctcccttgtg gcttcctcag ctcctgccct
     1081 tggcctgaag tcccagcatt gatggcagcg cctcatcttc aacttttgtg ctcccctttg
     1141 cctaaaccgt atggcctccc gtgcatctgt attcaccctg tatgacaaac acattacatt
     1201 attaaatgtt tctcaaagat gga
//
