HLA-DRB1
Major Histocompatibility Complex, Class II, DR Beta 1
Gene Information Card
| Symbol | HLA-DRB1 |
|---|---|
| Full Name | Major Histocompatibility Complex, Class II, DR Beta 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.32 |
| NCBI Gene ID | 3123 ncbi.nlm.nih.gov/gene/3123 |
| Ensembl ID | ENSG00000196126 |
| UniProt ID | P01911 |
| OMIM ID | 142857 |
| HGNC ID | 4948 |
| Aliases | DRB1, HLA-DR1B, HLA-DRB, SS1 |
Description
HLA-DRB1 encodes the beta chain of the HLA-DR major histocompatibility complex (MHC) class II molecule. This cell surface receptor is essential for presenting exogenous peptide antigens to CD4+ T cells, thereby initiating and regulating adaptive immune responses. The gene is highly polymorphic, with over 2,000 known alleles, contributing to individual differences in immune recognition and susceptibility to autoimmune diseases, infectious diseases, and transplant compatibility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rheumatoid Arthritis | HLA-DRB1 shared epitope alleles (e.g., *04:01, *04:04, *01:01) bind citrullinated peptides, promoting autoreactive T-cell responses | OMIM 180300; NCBI GeneReviews |
| Multiple Sclerosis | HLA-DRB1*15:01 allele increases risk by presenting myelin basic protein peptides to T cells | OMIM 126200; NCBI PubMed |
| Type 1 Diabetes | HLA-DRB1*03:01 and *04:01 alleles are associated with autoimmune destruction of pancreatic beta cells | OMIM 222100; NCBI PubMed |
| Systemic Lupus Erythematosus | HLA-DRB1*03:01 and *15:01 alleles linked to autoantibody production | OMIM 152700; NCBI PubMed |
| Graves Disease | HLA-DRB1*03:01 allele associated with increased risk | OMIM 275000; NCBI PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 nTPM | Medium |
| Spleen | 11.8 nTPM | Medium |
| Bone marrow | 9.2 nTPM | Medium |
| Lung | 6.1 nTPM | Low |
| Small intestine | 5.4 nTPM | Low |
| Whole blood | 4.8 nTPM | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| B-lymphocyte (GM12878) | 15.2 nTPM | High expression |
| Monocyte (THP-1) | 12.0 nTPM | High expression |
| Dendritic cell (immature) | 18.5 nTPM | High expression |
| T-cell (Jurkat) | 2.1 nTPM | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| HLA-DRB1*04:01 | Allelic variant | Common in European populations | Associated with rheumatoid arthritis risk |
| HLA-DRB1*15:01 | Allelic variant | Common in Northern Europeans | Strongly associated with multiple sclerosis |
| HLA-DRB1*03:01 | Allelic variant | Common in Caucasians | Associated with type 1 diabetes and lupus |
| HLA-DRB1*07:01 | Allelic variant | Variable frequency | Protective in rheumatoid arthritis |
Mutation functional classification
Loss of Function (LOF)
Rare null alleles (e.g., DRB1*04:05N) result in lack of cell surface expression, impairing antigen presentation and increasing susceptibility to infections.
Gain of Function (GOF)
Certain alleles (e.g., DRB1*04:01) enhance presentation of self-peptides, promoting autoreactive T-cell activation and autoimmune disease.
Dominant Negative (DN)
Not well documented; heterozygosity with null alleles may reduce overall HLA-DR function but does not typically exhibit dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • immune system process (GO:0002376) | • antigen processing and presentation of peptide antigen via MHC class II (GO:0002504) |
| • antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0009886) | • antigen processing and presentation (GO:0019882) |
| • MHC class II protein complex (GO:0042613) |
Pathways
• Antigen processing and presentation (KEGG hsa04612)
• Th1 and Th2 cell differentiation (KEGG hsa04658)
• Th17 cell differentiation (KEGG hsa04659)
• Intestinal immune network for IgA production (KEGG hsa04672)
• Autoimmune thyroid disease (KEGG hsa05320)
• Type I diabetes mellitus (KEGG hsa04940)
• Allograft rejection (KEGG hsa05330)
• Graft-versus-host disease (KEGG hsa05332)
Protein Summary
HLA-DRB1 encodes the beta chain of the HLA-DR MHC class II molecule. The mature protein is a transmembrane glycoprotein that forms a heterodimer with the alpha chain (HLA-DRA). This complex is expressed on antigen-presenting cells (B cells, dendritic cells, macrophages) and presents processed peptide antigens to CD4+ T helper cells. The beta chain contains the peptide-binding groove and is highly polymorphic, determining the repertoire of antigens presented. Polymorphisms in HLA-DRB1 are strongly associated with susceptibility to autoimmune diseases, including rheumatoid arthritis, multiple sclerosis, and type 1 diabetes, as well as with transplant rejection and infectious disease outcomes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HLA-DRB1 Knockout HEK293 Cell Line | EDJ-KQ11981 | Human | 3123 | Details Get a Quote |
| HLA-DRB1 Knockout HCT 116 Cell Line | EDJ-KQ40543 | Human | 3123 | Details Get a Quote |
| HLA-DRB1 Knockout HeLa Cell Line | EDJ-KQ40544 | Human | 3123 | Details Get a Quote |
| HLA-DRB1 Knockout A-549 Cell Line | EDJ-KQ61998 | Human | 3123 | Details Get a Quote |
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