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
//