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Homo sapiens major histocompatibility complex, class II, DR beta 5 (HLA-DRB5), mRNA

NCBI Reference Sequence: NM_002125.4

FASTA Graphics 

LOCUS       NM_002125               1250 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens major histocompatibility complex, class II, DR beta 5
            (HLA-DRB5), mRNA.
ACCESSION   NM_002125
VERSION     NM_002125.4
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 1250)
  AUTHORS   Kambala,A., Rajeh,A., Joel,M.Z., Ma,E., Cornman,H., Zhang,J. and
            Kwatra,S.G.
  TITLE     HLA DRB5 *01:01 is associated with pruritus in individuals with
            Fitzpatrick skin type IV-VI
  JOURNAL   J Am Acad Dermatol 90 (4), 855-857 (2024)
   PUBMED   38104778
  REMARK    GeneRIF: HLA DRB5 *01:01 is associated with pruritus in individuals
            with Fitzpatrick skin type IV-VI.
REFERENCE   2  (bases 1 to 1250)
  AUTHORS   Xu,J., Chen,H., Sun,C., Wei,S., Tao,J., Jia,Z., Chen,X., Lv,W.,
            Lv,H., Tang,G., Jiang,Y. and Zhang,M.
  TITLE     Epigenome-wide methylation haplotype association analysis
            identified HLA-DRB1, HLA-DRB5 and HLA-DQB1 as risk factors for
            rheumatoid arthritis
  JOURNAL   Int J Immunogenet 50 (6), 291-298 (2023)
   PUBMED   37688529
  REMARK    GeneRIF: Epigenome-wide methylation haplotype association analysis
            identified HLA-DRB1, HLA-DRB5 and HLA-DQB1 as risk factors for
            rheumatoid arthritis.
REFERENCE   3  (bases 1 to 1250)
  AUTHORS   Zhang,Q., Xu,Z., Huang,H. and Zhang,M.
  TITLE     Whole Exome Sequencing Identified Two Single Nucleotide
            Polymorphisms of Human Leukocyte Antigen-DRB5 in Familial
            Sarcoidosis in China
  JOURNAL   Curr Gene Ther 23 (3), 215-227 (2023)
   PUBMED   36658707
  REMARK    GeneRIF: Whole Exome Sequencing Identified Two Single Nucleotide
            Polymorphisms of Human Leukocyte Antigen-DRB5 in Familial
            Sarcoidosis in China.
REFERENCE   4  (bases 1 to 1250)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 1250)
  AUTHORS   Enz,L.S., Zeis,T., Schmid,D., Geier,F., van der Meer,F.,
            Steiner,G., Certa,U., Binder,T.M.C., Stadelmann,C., Martin,R. and
            Schaeren-Wiemers,N.
  TITLE     Increased HLA-DR expression and cortical demyelination in MS links
            with HLA-DR15
  JOURNAL   Neurol Neuroimmunol Neuroinflamm 7 (2), e656 (2019)
   PUBMED   31882398
  REMARK    GeneRIF: Increased HLA-DR expression and cortical demyelination in
            MS links with HLA-DR15.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1250)
  AUTHORS   Dong,R.P., Kimura,A. and Sasazuki,T.
  TITLE     Sequence analysis of three novel DRw14-DRB1 alleles
  JOURNAL   Immunogenetics 36 (2), 130-133 (1992)
   PUBMED   1612646
REFERENCE   7  (bases 1 to 1250)
  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
REFERENCE   8  (bases 1 to 1250)
  AUTHORS   Gyllensten,U.B., Sundvall,M. and Erlich,H.A.
  TITLE     Allelic diversity is generated by intraexon sequence exchange at
            the DRB1 locus of primates
  JOURNAL   Proc Natl Acad Sci U S A 88 (9), 3686-3690 (1991)
   PUBMED   2023919
REFERENCE   9  (bases 1 to 1250)
  AUTHORS   Nong,Y., Kandil,O., Tobin,E.H., Rose,R.M. and Remold,H.G.
  TITLE     The HIV core protein p24 inhibits interferon-gamma-induced increase
            of HLA-DR and cytochrome b heavy chain mRNA levels in the human
            monocyte-like cell line THP1
  JOURNAL   Cell Immunol 132 (1), 10-16 (1991)
   PUBMED   1905983
REFERENCE   10 (bases 1 to 1250)
  AUTHORS   Petersdorf,E.W., Griffith,R.L., Erlich,H.A., Mickelson,E.M.,
            Smith,A.G., Nisperos,B.B., Martin,P.J. and Hansen,J.A.
  TITLE     Unique sequences for two HLA-DRB1 genes expressed on distinct DRw6
            haplotypes
  JOURNAL   Immunogenetics 32 (2), 96-103 (1990)
   PUBMED   1975801
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL713966.7.
            
            On Nov 26, 2018 this sequence version replaced NM_002125.3.
            
            Summary: HLA-DRB5 belongs to the HLA class II beta chain
            paralogues. This class II molecule is a heterodimer consisting of
            an alpha (DRA) and a beta (DRB) chain, 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 and its gene contains 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. Typing for these polymorphisms is routinely
            done for bone marrow and kidney transplantation. There are multiple
            pseudogenes of this gene. [provided by RefSeq, Feb 2020].
            
            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 :: SRR1163657.90669.1,
                                           SRR1163657.377627.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2147920, SAMEA2153031
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000374975.4/ ENSP00000364114.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-163               AL713966.7         64066-64228         c
            164-433             AL713966.7         55846-56115         c
            434-715             AL713966.7         53311-53592         c
            716-826             AL713966.7         52497-52607         c
            827-850             AL713966.7         51995-52018         c
            851-1250            AL713966.7         51294-51693         c
FEATURES             Location/Qualifiers
     source          1..1250
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.32"
     gene            1..1250
                     /gene="HLA-DRB5"
                     /gene_synonym="DRB5; HLA-DRB5*"
                     /note="major histocompatibility complex, class II, DR beta
                     5"
                     /db_xref="GeneID:3127"
                     /db_xref="HGNC:HGNC:4953"
                     /db_xref="MIM:604776"
     exon            1..163
                     /gene="HLA-DRB5"
                     /gene_synonym="DRB5; HLA-DRB5*"
                     /inference="alignment:Splign:2.1.0"
     misc_feature    16..18
                     /gene="HLA-DRB5"
                     /gene_synonym="DRB5; HLA-DRB5*"
                     /note="upstream in-frame stop codon"
     CDS             64..864
                     /gene="HLA-DRB5"
                     /gene_synonym="DRB5; HLA-DRB5*"
                     /note="HLA class II histocompatibility antigen, DR-5 beta
                     chain; MHC class II antigen DRB5; DR beta-5"
                     /codon_start=1
                     /product="major histocompatibility complex, class II, DR
                     beta 5 precursor"
                     /protein_id="NP_002116.2"
                     /db_xref="CCDS:CCDS4751.1"
                     /db_xref="GeneID:3127"
                     /db_xref="HGNC:HGNC:4953"
                     /db_xref="MIM:604776"
                     /translation="MVCLKLPGGSYMAKLTVTLMVLSSPLALAGDTRPRFLQQDKYEC
                     HFFNGTERVRFLHRDIYNQEEDLRFDSDVGEYRAVTELGRPDAEYWNSQKDFLEDRRA
                     AVDTYCRHNYGVGESFTVQRRVEPKVTVYPARTQTLQHHNLLVCSVNGFYPGSIEVRW
                     FRNSQEEKAGVVSTGLIQNGDWTFQTLVMLETVPRSGEVYTCQVEHPSVTSPLTVEWR
                     AQSESAQSKMLSGVGGFVLGLLFLGAGLFIYFKNQKGHSGLHPTGLVS"
     sig_peptide     64..150
                     /gene="HLA-DRB5"
                     /gene_synonym="DRB5; HLA-DRB5*"
                     /inference="COORDINATES: ab initio prediction:SignalP:6.0"
     mat_peptide     151..861
                     /gene="HLA-DRB5"
                     /gene_synonym="DRB5; HLA-DRB5*"
                     /product="major histocompatibility complex, class II, DR
                     beta 5"
     misc_feature    151..435
                     /gene="HLA-DRB5"
                     /gene_synonym="DRB5; HLA-DRB5*"
                     /note="propagated from UniProtKB/Swiss-Prot (Q30154.1);
                     Region: Beta-1. /evidence=ECO:0000255"
     misc_feature    205..207
                     /gene="HLA-DRB5"
                     /gene_synonym="DRB5; HLA-DRB5*"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (Q30154.1); glycosylation site"
     misc_feature    436..744
                     /gene="HLA-DRB5"
                     /gene_synonym="DRB5; HLA-DRB5*"
                     /note="propagated from UniProtKB/Swiss-Prot (Q30154.1);
                     Region: Beta-2. /evidence=ECO:0000255"
     misc_feature    745..807
                     /gene="HLA-DRB5"
                     /gene_synonym="DRB5; HLA-DRB5*"
                     /note="propagated from UniProtKB/Swiss-Prot (Q30154.1);
                     transmembrane region"
     exon            164..433
                     /gene="HLA-DRB5"
                     /gene_synonym="DRB5; HLA-DRB5*"
                     /inference="alignment:Splign:2.1.0"
     exon            434..715
                     /gene="HLA-DRB5"
                     /gene_synonym="DRB5; HLA-DRB5*"
                     /inference="alignment:Splign:2.1.0"
     exon            716..826
                     /gene="HLA-DRB5"
                     /gene_synonym="DRB5; HLA-DRB5*"
                     /inference="alignment:Splign:2.1.0"
     exon            827..850
                     /gene="HLA-DRB5"
                     /gene_synonym="DRB5; HLA-DRB5*"
                     /inference="alignment:Splign:2.1.0"
     exon            851..1250
                     /gene="HLA-DRB5"
                     /gene_synonym="DRB5; HLA-DRB5*"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1161..1166
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HLA-DRB5"
                     /gene_synonym="DRB5; HLA-DRB5*"
                     /note="hexamer: ATTAAA"
     polyA_site      1181
                     /gene="HLA-DRB5"
                     /gene_synonym="DRB5; HLA-DRB5*"
                     /note="major polyA site"
     regulatory      1222..1227
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HLA-DRB5"
                     /gene_synonym="DRB5; HLA-DRB5*"
                     /note="hexamer: AATAAA"
     regulatory      1228..1233
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HLA-DRB5"
                     /gene_synonym="DRB5; HLA-DRB5*"
                     /note="hexamer: AAGAAA"
     polyA_site      1240
                     /gene="HLA-DRB5"
                     /gene_synonym="DRB5; HLA-DRB5*"
     polyA_site      1250
                     /gene="HLA-DRB5"
                     /gene_synonym="DRB5; HLA-DRB5*"
ORIGIN      
        1 atagttctcc ctgagtgaga cttgcctgct cctctggccc ctggtcctgt cctgttctcc
       61 agcatggtgt gtctgaagct ccctggaggt tcctacatgg caaagctgac agtgacactg
      121 atggtgctga gctccccact ggctttggct ggggacaccc gaccacgttt cttgcagcag
      181 gataagtatg agtgtcattt cttcaacggg acggagcggg tgcggttcct gcacagagac
      241 atctataacc aagaggagga cttgcgcttc gacagcgacg tgggggagta ccgggcggtg
      301 acggagctgg ggcggcctga cgctgagtac tggaacagcc agaaggactt cctggaagac
      361 aggcgcgccg cggtggacac ctactgcaga cacaactacg gggttggtga gagcttcaca
      421 gtgcagcggc gagttgagcc taaggtgact gtgtatcctg caaggaccca gaccctgcag
      481 caccacaacc tcctggtctg ctctgtgaat ggtttctatc caggcagcat tgaagtcagg
      541 tggttccgga acagccagga agagaaggct ggggtggtgt ccacaggcct gattcagaat
      601 ggagactgga ccttccagac cctggtgatg ctggaaacag ttcctcgaag tggagaggtt
      661 tacacctgcc aagtggagca cccaagcgtg acgagccctc tcacagtgga atggagagca
      721 cagtctgaat ctgcacagag caagatgctg agtggagtcg ggggctttgt gctgggcctg
      781 ctcttccttg gggccgggct attcatctac ttcaagaatc agaaagggca ctctggactt
      841 cacccaacag gactcgtgag ctgaagtgca gatgaccaca ttcaaggggg aaccttctgc
      901 cccagctttg catgatgaaa agctttcctg cttggctctt attcttccac aagagaggac
      961 tttctcaggc cctggttgct accggttcag caactctgca gaaaatgtcc atccttgtgg
     1021 cttcctcagc tcctgccctt ggcctgaagt cccagcattg atggcagtgc ctcatcttca
     1081 actttagtgc tcccctttac ctaaccctac ggcctcccat gcatctgtac tccccctgtg
     1141 tgccacaaat gcactacgtt attaaatttt tctgaagccc agagttaaaa atcatctgtc
     1201 cacctggctc caaagacaaa aaataaaaag aaaagaaaaa gggaagatta
//
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Reference sequence information

  • RefSeq alternative splicing
    See the other reference mRNA sequence splice variant for the HLA-DRB5 gene (XM_011514562.3).
  • RefSeq protein product
    See the reference protein sequence for major histocompatibility complex, class II, DR beta 5 precursor (NP_002116.2).

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