Version: 8.0.0Date: Tue Jan 28 2025
Gene
HLA-DRB1
- Species
- Homo sapiens
- Symbol
- HLA-DRB1
- Name
- major histocompatibility complex, class II, DR beta 1
- Synonyms
- DR-16
- DR-8
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including MHC class II receptor activity; peptide antigen binding activity; and signaling receptor binding activity. Involved in several processes, including positive regulation of immune response; regulation of leukocyte differentiation; and regulation of macromolecule metabolic process. Located in bounding membrane of organelle; external side of plasma membrane; and immunological synapse. Part of MHC class II protein complex. Implicated in several diseases, including asthma (multiple); autoimmune disease (multiple); bacterial infectious disease (multiple); eye disease (multiple); and sarcoidosis (multiple). Biomarker of toxic shock syndrome.
- RGD Description
- HLA-DRB1 belongs to the HLA class II beta chain paralogs. 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. Class II molecules are expressed in antigen presenting cells. 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. Hundreds of DRB1 alleles have been described and some alleles have increased frequencies associated with certain diseases or conditions. For example, DRB1*1302 has been related to acute and chronic hepatitis B virus persistence. There are multiple pseudogenes of this gene. [provided by RefSeq, Jul 2020]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR19944
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr6:32577902...32589848 - (11.95 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.