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50 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HLA-DRB1
major histocompatibility complex, class II, DR beta 1
Chromosome 6 · 6p21.32
NCBI Gene: 3123Ensembl: ENSG00000196126.13HGNC: HGNC:4948UniProt: A0A224MM52
2,871PubMed Papers
3Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Highly Studied
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
immune responseprotein bindingMHC class II protein complex bindingpolysaccharide bindingSarcoidosis 1Multiple sclerosisRheumatoid arthritis
✦AI Summary

HLA-DRB1 encodes the beta chain of HLA-DR molecules, which are MHC class II proteins that present peptide antigens to CD4+ T cells for immune recognition. The protein forms complexes that bind and present exogenous peptide antigens on the cell surface, playing a crucial role in adaptive immune responses 12. HLA-DRB1 contains a peptide binding groove with specific pockets (such as P4) that accommodate antigenic peptides, and alterations to this groove can modify peptide binding and T-cell recognition 12. Certain HLA-DRB1 alleles show strong disease associations, particularly HLA-DRB1*1501 with multiple sclerosis risk, especially when combined with Epstein-Barr virus infection 3. The HLA-DRB1*03 allele is strongly associated with Löfgren's syndrome, a distinct sarcoidosis subtype with favorable prognosis 4. Drug interactions with HLA-DRB1 can lead to adverse reactions, as demonstrated by ximelagatran and nevirapine, which bind to the peptide groove and alter immune responses, potentially causing hepatotoxicity 21. The high allelic diversity of HLA-DRB1, with numerous variants being continuously identified, reflects its critical role in immune system diversity and population-specific disease susceptibilities 567.

Sources cited
1
HLA-DRB1 contains a peptide binding groove with P4 pocket that binds peptides for T-cell recognition
PMID: 29867033
2
HLA-DRB1 presents peptide antigens and drug interactions can alter immune responses
PMID: 28338626
3
HLA-DRB1*1501 is associated with multiple sclerosis risk, particularly with EBV infection
PMID: 26656273
4
HLA-DRB1*03 allele is strongly associated with Löfgren's syndrome
PMID: 22149340
5
Multiple HLA-DRB1 allelic variants exist showing sequence diversity
PMID: 38695291
6
Additional HLA-DRB1 allelic variants demonstrate ongoing genetic diversity
PMID: 34994524
7
Continued identification of new HLA-DRB1 alleles reflects genetic diversity
PMID: 36908228
Disease Associationsⓘ3
Multiple sclerosisUniProt
Rheumatoid arthritisUniProt
Sarcoidosis 1UniProt
Pathogenic Variants2
NM_002124.4(HLA-DRB1):c.764-2A>GLikely pathogenic
Multiple sclerosis, susceptibility to
★☆☆☆2024
NM_002124.4(HLA-DRB1):c.242A>T (p.Glu81Val)Pathogenic
Pulmonary artery atresia
☆☆☆☆→ Residue 81
View on ClinVar ↗
Related Genes
CD8AProtein interaction100%TNFRSF25Protein interaction100%CD74Protein interaction100%HLA-BProtein interaction100%HLA-CProtein interaction100%HLA-DMAProtein interaction100%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
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HLA-DRB1CD8ATNFRSF25CD74HLA-BHLA-CHLA-DMA
PROTEIN STRUCTURE
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PDB5NI9 · 1.33 Å · X-ray
View on RCSB ↗
RankingsWhere HLA-DRB1 stands among ~20K protein-coding genes
  • #22of 20,598
    Most Researched2,871 · top 1%
  • #4,179of 5,498
    Most Pathogenic Variants2
Genes detectedHLA-DRB1
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
In Silico and In Vitro Analysis of Interaction between Ximelagatran and Human Leukocyte Antigen (HLA)-DRB1*07:01.
PMID: 28338626
Int J Mol Sci · 2017
1.00
2
High resolution HLA-DRB1 analysis and shared molecular amino acid signature of DRβ1 molecules in Occult hepatitis B infection.
PMID: 35468727
BMC Immunol · 2022
0.96
3
Relationship between human leukocyte antigen DRB1 and psoriasis in Iraqi patients.
PMID: 30251731
Saudi Med J · 2018
0.92
4
Phenotypic and HLA-DRB1 allele characterization of Swedish cardiac sarcoidosis patients.
PMID: 35395284
Int J Cardiol · 2022
0.90
5
Lichen planopilaris is associated with HLA DRB1*11 and DQB1*03 alleles.
PMID: 24806356
Acta Derm Venereol · 2015
0.90