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HLA-DRB1

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Protein-coding gene in the species Homo sapiens

HLA-DRB1
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

1A6A, 1BX2, 1YMM, 2WBJ,%%s1AQD, 1DLH, 1FYT, 1HXY, 1JWM, 1JWS, 1JWU, 1KG0, 1KLG, 1KLU, 1LO5, 1PYW, 1R5I, 1SEB, 1SJH, 1T5W, 1T5X, 2FSE, 2G9H, 2IAM, 2IAN, 2ICW, 2IPK, 2OJE, 2XN9, 3L6F, 3PDO, 3PGC, 3PGD, 3QXA, 3QXD, 3S4S, 3S5L, 4AEN, 4AH2, 4C56, 4E41, 4FQX, 4GBX, 4I5B, 4OV5, 4X5W, 4X5X,%%s1D5M, 1D5X, 1D5Z, 1D6E, 1J8H, 2SEB, 3O6F, 3T0E, 4IS6, 4MCY, 4MCZ, 4MD0, 4MD4, 4MD5, 4MDI, 4MDJ, 4Y19, 4Y1A

Identifiers
AliasesHLA-DRB1, DRB1, DRw10, HLA-DR1B, HLA-DRB, SS1, major histocompatibility complex, class II, DR beta 1
External IDsOMIM: 142857; MGI: 95901; HomoloGene: 136635; GeneCards: HLA-DRB1; OMA:HLA-DRB1 - orthologs
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)
Chromosome 6 (human)Genomic location for HLA-DRB1Genomic location for HLA-DRB1
Band6p21.32Start32,577,902 bp
End32,589,848 bp
Gene location (Mouse)
Chromosome 17 (mouse)
Chr.Chromosome 17 (mouse)
Chromosome 17 (mouse)Genomic location for HLA-DRB1Genomic location for HLA-DRB1
Band17 B1|17 17.98 cMStart34,524,841 bp
End34,535,648 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • appendix

  • granulocyte

  • right lung

  • lymph node

  • spleen

  • upper lobe of left lung

  • monocyte

  • gallbladder

  • duodenum

  • right coronary artery
Top expressed in
  • mesenteric lymph nodes

  • spleen

  • thymus

  • submandibular gland

  • carotid body

  • right lung

  • lip

  • white adipose tissue

  • right lung lobe

  • tibiofemoral joint
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

3123

14969

Ensembl
ENSG00000236884
ENSG00000206240
ENSG00000229074
ENSG00000196126
ENSG00000206306

ENSG00000228080

ENSMUSG00000060586

UniProt

P01911

P04231
P04230
P18468
P18469
O78196

n/a

RefSeq (mRNA)

NM_001243965
NM_002124
NM_001359193
NM_001359194

NM_010382

RefSeq (protein)

NP_001230894
NP_002115
NP_001346122
NP_001346123
NP_002115.2

NP_034512

Location (UCSC)Chr 6: 32.58 – 32.59 MbChr 17: 34.52 – 34.54 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

HLA class II histocompatibility antigen, DRB1 beta chain is a protein that in humans is encoded by the HLA-DRB1 gene. DRB1 encodes the most prevalent beta subunit of HLA-DR. DRB1 alleles, especially those encoding amino acid sequence changes at positions 11 and 13, are associated risk of rheumatoid arthritis.

Function

The protein encoded by this gene belongs to the HLA class II beta chain paralogues. 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 to T helper cells. Class II molecules are constitutively expressed in professional antigen-presenting cells (APC: B lymphocytes, dendritic cells, macrophages), and could be induced in non-professional APCs.

There is evidence it is associated with reduced severity of COVID-19 disease.

Gene structure and polymorphisms

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. To date, more than 3,700 HLA-DRB1 alleles have been described and made publicaly available in the IPD-IMGT/HLA Database. HLA typing for these polymorphisms is routinely done for bone marrow and kidney transplantation.

Gene expression

DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. DRB1 is present in all individuals. Allelic variants of DRB1 are linked with either none or one of the genes DRB3, DRB4 and DRB5. There are 5 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9.

Prevalence of the HLA-DRB1*10:01 allele was greatly increased in people with anti-IgLON5 disease.

See also

References

  1. ^ ENSG00000206240, ENSG00000229074, ENSG00000196126, ENSG00000206306, ENSG00000228080 GRCh38: Ensembl release 89: ENSG00000236884, ENSG00000206240, ENSG00000229074, ENSG00000196126, ENSG00000206306, ENSG00000228080 – Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000060586 – Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: HLA-DRB1 major histocompatibility complex, class II, DR beta 1".
  6. Gregersen PK, Silver J, Winchester RJ (November 1987). "The shared epitope hypothesis. An approach to understanding the molecular genetics of susceptibility to rheumatoid arthritis". Arthritis and Rheumatism. 30 (11): 1205–13. doi:10.1002/art.1780301102. PMID 2446635.
  7. Raychaudhuri S, Sandor C, Stahl EA, Freudenberg J, Lee HS, Jia X, et al. (January 2012). "Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid arthritis". Nature Genetics. 44 (3): 291–296. doi:10.1038/ng.1076. PMC 3288335. PMID 22286218.
  8. Langton DJ, Bourke SC, Lie BA, Reiff G, Natu S, Darlay R, et al. (July 2021). "The influence of HLA genotype on the severity of COVID-19 infection". HLA. 98 (1): 14–22. doi:10.1111/tan.14284. PMC 8251294. PMID 33896121.
  9. Barker DJ, Maccari G, Georgiou X, Cooper MA, Flicek P, Robinson J, et al. (January 2023). "The IPD-IMGT/HLA Database". Nucleic Acids Research. 51 (D1): D1053 – D1060. doi:10.1093/nar/gkac1011. PMC 9825470. PMID 36350643.
  10. Gaig C, Graus F, Compta Y, Högl B, Bataller L, Brüggemann N, et al. (May 2017). "Clinical manifestations of the anti-IgLON5 disease". Neurology. 88 (18): 1736–1743. doi:10.1212/WNL.0000000000003887. PMC 5409845. PMID 28381508.

Further reading

PDB gallery
  • 1aqd: HLA-DR1 (DRA, DRB1 0101) HUMAN CLASS II HISTOCOMPATIBILITY PROTEIN (EXTRACELLULAR DOMAIN) COMPLEXED WITH ENDOGENOUS PEPTIDE 1aqd: HLA-DR1 (DRA, DRB1 0101) HUMAN CLASS II HISTOCOMPATIBILITY PROTEIN (EXTRACELLULAR DOMAIN) COMPLEXED WITH ENDOGENOUS PEPTIDE
  • 1bx2: CRYSTAL STRUCTURE OF HLA-DR2 (DRA*0101,DRB1*1501) COMPLEXED WITH A PEPTIDE FROM HUMAN MYELIN BASIC PROTEIN 1bx2: CRYSTAL STRUCTURE OF HLA-DR2 (DRA*0101,DRB1*1501) COMPLEXED WITH A PEPTIDE FROM HUMAN MYELIN BASIC PROTEIN
  • 1d5m: X-RAY CRYSTAL STRUCTURE OF HLA-DR4 COMPLEXED WITH PEPTIDE AND SEB 1d5m: X-RAY CRYSTAL STRUCTURE OF HLA-DR4 COMPLEXED WITH PEPTIDE AND SEB
  • 1d5x: X-RAY CRYSTAL STRUCTURE OF HLA-DR4 COMPLEXED WITH DIPEPTIDE MIMETIC AND SEB 1d5x: X-RAY CRYSTAL STRUCTURE OF HLA-DR4 COMPLEXED WITH DIPEPTIDE MIMETIC AND SEB
  • 1d5z: X-RAY CRYSTAL STRUCTURE OF HLA-DR4 COMPLEXED WITH PEPTIDOMIMETIC AND SEB 1d5z: X-RAY CRYSTAL STRUCTURE OF HLA-DR4 COMPLEXED WITH PEPTIDOMIMETIC AND SEB
  • 1d6e: CRYSTAL STRUCTURE OF HLA-DR4 COMPLEX WITH PEPTIDOMIMETIC AND SEB 1d6e: CRYSTAL STRUCTURE OF HLA-DR4 COMPLEX WITH PEPTIDOMIMETIC AND SEB
  • 1dlh: CRYSTAL STRUCTURE OF THE HUMAN CLASS II MHC PROTEIN HLA-DR1 COMPLEXED WITH AN INFLUENZA VIRUS PEPTIDE 1dlh: CRYSTAL STRUCTURE OF THE HUMAN CLASS II MHC PROTEIN HLA-DR1 COMPLEXED WITH AN INFLUENZA VIRUS PEPTIDE
  • 1fv1: STRUCTURAL BASIS FOR THE BINDING OF AN IMMUNODOMINANT PEPTIDE FROM MYELIN BASIC PROTEIN IN DIFFERENT REGISTERS BY TWO HLA-DR2 ALLELES 1fv1: STRUCTURAL BASIS FOR THE BINDING OF AN IMMUNODOMINANT PEPTIDE FROM MYELIN BASIC PROTEIN IN DIFFERENT REGISTERS BY TWO HLA-DR2 ALLELES
  • 1fyt: CRYSTAL STRUCTURE OF A COMPLEX OF A HUMAN ALPHA/BETA-T CELL RECEPTOR, INFLUENZA HA ANTIGEN PEPTIDE, AND MHC CLASS II MOLECULE, HLA-DR1 1fyt: CRYSTAL STRUCTURE OF A COMPLEX OF A HUMAN ALPHA/BETA-T CELL RECEPTOR, INFLUENZA HA ANTIGEN PEPTIDE, AND MHC CLASS II MOLECULE, HLA-DR1
  • 1h15: X-RAY CRYSTAL STRUCTURE OF HLA-DRA1*0101/DRB5*0101 COMPLEXED WITH A PEPTIDE FROM EPSTEIN BARR VIRUS DNA POLYMERASE 1h15: X-RAY CRYSTAL STRUCTURE OF HLA-DRA1*0101/DRB5*0101 COMPLEXED WITH A PEPTIDE FROM EPSTEIN BARR VIRUS DNA POLYMERASE
  • 1hqr: CRYSTAL STRUCTURE OF A SUPERANTIGEN BOUND TO THE HIGH-AFFINITY, ZINC-DEPENDENT SITE ON MHC CLASS II 1hqr: CRYSTAL STRUCTURE OF A SUPERANTIGEN BOUND TO THE HIGH-AFFINITY, ZINC-DEPENDENT SITE ON MHC CLASS II
  • 1hxy: CRYSTAL STRUCTURE OF STAPHYLOCOCCAL ENTEROTOXIN H IN COMPLEX WITH HUMAN MHC CLASS II 1hxy: CRYSTAL STRUCTURE OF STAPHYLOCOCCAL ENTEROTOXIN H IN COMPLEX WITH HUMAN MHC CLASS II
  • 1j8h: Crystal Structure of a Complex of a Human alpha/beta-T cell Receptor, Influenza HA Antigen Peptide, and MHC Class II Molecule, HLA-DR4 1j8h: Crystal Structure of a Complex of a Human alpha/beta-T cell Receptor, Influenza HA Antigen Peptide, and MHC Class II Molecule, HLA-DR4
  • 1jwm: Crystal Structure of the Complex of the MHC Class II Molecule HLA-DR1(HA peptide 306-318) with the Superantigen SEC3 1jwm: Crystal Structure of the Complex of the MHC Class II Molecule HLA-DR1(HA peptide 306-318) with the Superantigen SEC3
  • 1jws: Crystal Structure of the Complex of the MHC Class II Molecule HLA-DR1 (HA peptide 306-318) with the Superantigen SEC3 Variant 3B1 1jws: Crystal Structure of the Complex of the MHC Class II Molecule HLA-DR1 (HA peptide 306-318) with the Superantigen SEC3 Variant 3B1
  • 1jwu: Crystal Structure of the Complex of the MHC Class II Molecule HLA-DR1 (HA peptide 306-318) with the superantigen SEC3 Variant 3B2 1jwu: Crystal Structure of the Complex of the MHC Class II Molecule HLA-DR1 (HA peptide 306-318) with the superantigen SEC3 Variant 3B2
  • 1kg0: Structure of the Epstein-Barr Virus gp42 Protein Bound to the MHC class II Receptor HLA-DR1 1kg0: Structure of the Epstein-Barr Virus gp42 Protein Bound to the MHC class II Receptor HLA-DR1
  • 1klg: Crystal structure of HLA-DR1/TPI(23-37, Thr28-->Ile mutant) complexed with staphylococcal enterotoxin C3 variant 3B2 (SEC3-3B2) 1klg: Crystal structure of HLA-DR1/TPI(23-37, Thr28-->Ile mutant) complexed with staphylococcal enterotoxin C3 variant 3B2 (SEC3-3B2)
  • 1klu: Crystal structure of HLA-DR1/TPI(23-37) complexed with staphylococcal enterotoxin C3 variant 3B2 (SEC3-3B2) 1klu: Crystal structure of HLA-DR1/TPI(23-37) complexed with staphylococcal enterotoxin C3 variant 3B2 (SEC3-3B2)
  • 1lo5: Crystal structure of the D227A variant of Staphylococcal enterotoxin A in complex with human MHC class II 1lo5: Crystal structure of the D227A variant of Staphylococcal enterotoxin A in complex with human MHC class II
  • 1pyw: Human class II MHC protein HLA-DR1 bound to a designed peptide related to influenza virus hemagglutinin, FVKQNA(MAA)AL, in complex with staphylococcal enterotoxin C3 variant 3B2 (SEC3-3B2) 1pyw: Human class II MHC protein HLA-DR1 bound to a designed peptide related to influenza virus hemagglutinin, FVKQNA(MAA)AL, in complex with staphylococcal enterotoxin C3 variant 3B2 (SEC3-3B2)
  • 1r5i: Crystal structure of the MAM-MHC complex 1r5i: Crystal structure of the MAM-MHC complex
  • 1seb: COMPLEX OF THE HUMAN MHC CLASS II GLYCOPROTEIN HLA-DR1 AND THE BACTERIAL SUPERANTIGEN SEB 1seb: COMPLEX OF THE HUMAN MHC CLASS II GLYCOPROTEIN HLA-DR1 AND THE BACTERIAL SUPERANTIGEN SEB
  • 1sje: HLA-DR1 complexed with a 16 residue HIV capsid peptide bound in a hairpin conformation 1sje: HLA-DR1 complexed with a 16 residue HIV capsid peptide bound in a hairpin conformation
  • 1sjh: HLA-DR1 complexed with a 13 residue HIV capsid peptide 1sjh: HLA-DR1 complexed with a 13 residue HIV capsid peptide
  • 1t5w: HLA-DR1 in complex with a synthetic peptide (AAYSDQATPLLLSPR) 1t5w: HLA-DR1 in complex with a synthetic peptide (AAYSDQATPLLLSPR)
  • 1t5x: HLA-DR1 in complex with a synthetic peptide (AAYSDQATPLLLSPR) and the superantigen SEC3-3B2 1t5x: HLA-DR1 in complex with a synthetic peptide (AAYSDQATPLLLSPR) and the superantigen SEC3-3B2
  • 1ymm: TCR/HLA-DR2b/MBP-peptide complex 1ymm: TCR/HLA-DR2b/MBP-peptide complex
  • 1zgl: Crystal structure of 3A6 TCR bound to MBP/HLA-DR2a 1zgl: Crystal structure of 3A6 TCR bound to MBP/HLA-DR2a
  • 2fse: Crystallographic structure of a rheumatoid arthritis MHC susceptibility allele, HLA-DR1 (DRB1*0101), complexed with the immunodominant determinant of human type II collagen 2fse: Crystallographic structure of a rheumatoid arthritis MHC susceptibility allele, HLA-DR1 (DRB1*0101), complexed with the immunodominant determinant of human type II collagen
  • 2g9h: Crystal Structure of Staphylococcal Enterotoxin I (SEI) in Complex with a Human MHC class II Molecule 2g9h: Crystal Structure of Staphylococcal Enterotoxin I (SEI) in Complex with a Human MHC class II Molecule
  • 2iam: Structural basis for recognition of mutant self by a tumor-specific, MHC class II-restricted TCR 2iam: Structural basis for recognition of mutant self by a tumor-specific, MHC class II-restricted TCR
  • 2ian: Structural basis for recognition of mutant self by a tumor-specific, MHC class II-restricted TCR 2ian: Structural basis for recognition of mutant self by a tumor-specific, MHC class II-restricted TCR
  • 2icw: Crystal structure of a complete ternary complex between TCR, superantigen, and peptide-MHC class II molecule 2icw: Crystal structure of a complete ternary complex between TCR, superantigen, and peptide-MHC class II molecule
  • 2ipk: Crystal Structure of the MHC Class II Molecule HLA-DR1 in Complex with the Fluorogenic Peptide, AcPKXVKQNTLKLAT (X=3--L-alanine) and the Superantigen, SEC3 Variant 3B2 2ipk: Crystal Structure of the MHC Class II Molecule HLA-DR1 in Complex with the Fluorogenic Peptide, AcPKXVKQNTLKLAT (X=3--L-alanine) and the Superantigen, SEC3 Variant 3B2
  • 2oje: Mycoplasma arthritidis-derived mitogen complexed with class II MHC molecule HLA-DR1/HA complex in the presence of EDTA 2oje: Mycoplasma arthritidis-derived mitogen complexed with class II MHC molecule HLA-DR1/HA complex in the presence of EDTA
  • 2seb: X-RAY CRYSTAL STRUCTURE OF HLA-DR4 COMPLEXED WITH A PEPTIDE FROM HUMAN COLLAGEN II 2seb: X-RAY CRYSTAL STRUCTURE OF HLA-DR4 COMPLEXED WITH A PEPTIDE FROM HUMAN COLLAGEN II
Major histocompatibility complex classes
MHC class I
MHC class II
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