Sequence in raw or FASTA format:
HLA-DRB1 major histocompatibility complex, class II, DR beta 1 [Homo sapiens (human)]
| Gene Symbol | HLA-DRB1 |
| Entrez Gene ID | 3123 |
| Full Name | major histocompatibility complex, class II, DR beta 1 |
| Synonyms | DRB1, DRw10, FLJ75017, FLJ76359, HLA-DR1B, HLA-DRB, HLA-DRB1*, SS1 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
6 6p21.3 |
| Summary | 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 (APC: B lymphocytes, dendritic cells, macrophages). 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 typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogs 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 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq]. |
| Disorder | MIM: 142857 {Pemphigoid, susceptibility to} (2); {Sarcoidosis, susceptibility |
| mRNA | NM_002124, 155030210 |
| Protein | NP_002115, 155030211 |
| Product | major histocompatibility complex, class II, DR beta 1 precursor |
| RefSeq Status | REVIEWED |
| hsa05145 | Toxoplasmosis |
| hsa05322 | Systemic lupus erythematosus |
| hsa04672 | Intestinal immune network for IgA production |
| hsa05310 | Asthma |
| hsa04514 | Cell adhesion molecules (CAMs) |
| hsa04612 | Antigen processing and presentation |
| hsa05140 | Leishmaniasis |
| hsa05150 | Staphylococcus aureus infection |
| hsa05332 | Graft-versus-host disease |
| hsa05330 | Allograft rejection |
| hsa05323 | Rheumatoid arthritis |
| hsa05320 | Autoimmune thyroid disease |
| hsa04145 | Phagosome |
| hsa05416 | Viral myocarditis |
| hsa04640 | Hematopoietic cell lineage |
| hsa04940 | Type I diabetes mellitus |
WikiPathways
| WP530 | Cytokines and Inflammatory Response |
Pathway Interaction Database
| cxcr4_pathway | CXCR4-mediated signaling events |
| tcr_pathway | TCR signaling in naive CD4+ T cells |
| il12_2pathway | IL12-mediated signaling events |
| il12_stat4pathway | IL12 signaling mediated by STAT4 |
Reactome
| REACT_6900 | Signaling in Immune system |
| REACT_25078 | Interferon gamma signaling |
| REACT_12526 | TCR signaling |
| REACT_12596 | Translocation of ZAP-70 to Immunological synapse |
| REACT_12555 | Downstream TCR signaling |
| REACT_19324 | PD-1 signaling |
| REACT_19344 | Costimulation by the CD28 family |
| REACT_25229 | Interferon Signaling |
| REACT_12582 | Phosphorylation of CD3 and TCR zeta chains |
| REACT_12623 | Generation of second messenger molecules |
| Homo sapiens (human) | HLA-DRB1 | NP_002115.2 |
| Pan troglodytes (chimpanzee) | PATR-DQB1 | XP_001165493.1 |
| Mus musculus (house mouse) | H2-Eb1 | NP_034512.2 |
| Rattus norvegicus (Norway rat) | RT1-Db1 | NP_001008884.1 |
| Danio rerio (zebrafish) | si:busm1-228j01.6 | NP_001001595.1 |
| Danio rerio (zebrafish) | zgc:123114 | NP_001071221.1 |
| Danio rerio (zebrafish) | si:busm1-228j01.4 | NP_001009597.1 |
| Danio rerio (zebrafish) | si:busm1-37i06.4 | NP_001007036.1 |
| Danio rerio (zebrafish) | zgc:153067 | NP_001070245.1 |
| Danio rerio (zebrafish) | mhc2dcb | NP_571781.1 |
| Danio rerio (zebrafish) | si:busm1-194e12.12 | NP_001007207.2 |
| Danio rerio (zebrafish) | LOC100332621 | XP_002663216.1 |
| Danio rerio (zebrafish) | mhc2dab | NP_571551.2 |
| Danio rerio (zebrafish) | zgc:152682 | NP_001070928.1 |
| Danio rerio (zebrafish) | si:busm1-160c18.3 | NP_001074102.1 |
| Danio rerio (zebrafish) | LOC100332219 | XP_002663212.1 |
| Danio rerio (zebrafish) | zgc:103700 | NP_001005943.2 |
| Danio rerio (zebrafish) | wu:fd58b11 | XP_002661942.1 |
| Danio rerio (zebrafish) | LOC100332155 | XP_002663211.1 |
| ID | Name | Evidence |
| GO:0002504 | antigen processing and presentation of peptide or polysaccharide antigen via MHC class II | IEA |
| GO:0006955 | immune response | IEA |
| GO:0006955 | immune response | NAS |
| GO:0019221 | cytokine-mediated signaling pathway | TAS |
| GO:0031295 | T cell costimulation | TAS |
| GO:0050852 | T cell receptor signaling pathway | TAS |
| GO:0060333 | interferon-gamma-mediated signaling pathway | TAS |
Component
| ID | Name | Evidence |
| GO:0005765 | lysosomal membrane | IDA |
| GO:0005768 | endosome | IEA |
| GO:0005783 | endoplasmic reticulum | IEA |
| GO:0005789 | endoplasmic reticulum membrane | IEA |
| GO:0005794 | Golgi apparatus | IEA |
| GO:0005886 | plasma membrane | EXP |
| GO:0005886 | plasma membrane | IEA |
| GO:0005886 | plasma membrane | TAS |
| GO:0005887 | integral to plasma membrane | TAS |
| GO:0016020 | membrane | NAS |
| GO:0016021 | integral to membrane | IEA |
| GO:0031902 | late endosome membrane | IDA |
| GO:0042613 | MHC class II protein complex | IEA |
Function
| ID | Name | Evidence |
| GO:0032395 | MHC class II receptor activity | NAS |
| GO:0032395 | MHC class II receptor activity | TAS |
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