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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. There are multiple pseudogenes of this gene. [provided by RefSeq, Feb 2020]
HLA-DRB1 (Major Histocompatibility Complex, Class II, DR Beta 1) is a Protein Coding gene. Diseases associated with HLA-DRB1 include Sarcoidosis 1 and Multiple Sclerosis. Among its related pathways are TCR Signaling (Qiagen) and Tuberculosis. Gene Ontology (GO) annotations related to this gene include peptide antigen binding and MHC class II receptor activity. An important paralog of this gene is HLA-DRB5.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005200 | structural constituent of cytoskeleton | TAS | 1281771 |
GO:0005515 | protein binding | IPI | 9354468 |
GO:0023026 | MHC class II protein complex binding | HDA | 20458337 |
GO:0030247 | polysaccharide binding | IDA | 21502329 |
GO:0032395 | MHC class II receptor activity | TAS | 3456344 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0005615 | extracellular space | HDA | 16502470 |
GO:0005764 | lysosome | IEA | -- |
GO:0005765 | lysosomal membrane | TAS | -- |
GO:0005768 | endosome | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Allograft rejection |
.44
|
THC Differentiation Pathway
.39
CTL Mediated Apoptosis
.38
|
2 | Th17 cell differentiation |
Immune response IL-22 signaling pathway
.36
|
|
3 | Translocation of ZAP-70 to Immunological synapse |
.71
|
|
4 | ICos-ICosL Pathway in T-Helper Cell |
CD28 Signaling in T-Helper Cell
.66
ICos-ICosL Pathway in T-Helper Cell
.66
|
Calcium Mediated T-Cell Apoptosis
.31
|
5 | TCR Signaling (Qiagen) |
PKC-Theta Pathway
.68
TCR Signaling
.68
|
ITK and TCR Signaling
.54
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001934 | positive regulation of protein phosphorylation | IDA | 24942581 |
GO:0002250 | adaptive immune response | IEA | -- |
GO:0002376 | immune system process | IEA | -- |
GO:0002381 | immunoglobulin production involved in immunoglobulin mediated immune response | IDA | 17050030 |
GO:0002437 | inflammatory response to antigenic stimulus | IDA | 15795121 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Coccidioides immitis spherule | Approved | Pharma | Target, Target, Target, Target, Target, Target, Target, Target, Target, Target, Target, Target, Target, binder | 0 | ||
Glatiramer | Approved, Investigational | Pharma | Target, binder | 0 | ||
Allopurinol | Approved | Pharma | 176 | |||
Atorvastatin | Approved | Pharma | Inhibitor, Competitive | 893 | ||
Azathioprine | Approved | Pharma | 227 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PATR-DQB1 30 |
|
||
DRB1*0204 31 |
|
OneToOne | |||
Dog (Canis familiaris) |
Mammalia | DLA-DRB1 31 |
|
OneToMany | |
Mouse (Mus musculus) |
Mammalia | H2-Eb1 31 |
|
ManyToMany | |
H2-Eb2 31 |
|
ManyToMany | |||
Cow (Bos Taurus) |
Mammalia | DSB 31 |
|
ManyToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
691505 | Uncertain Significance: Peritoneal Gliomatosis | 32,584,172(-) | C/G | MISSENSE_VARIANT,NO_SEQUENCE_ALTERATION | |
VAR_082703 | - | p.Lys5Arg | |||
VAR_082704 | - | p.Leu6Phe | |||
VAR_082705 | - | p.Thr13Ala | |||
VAR_082706 | - | p.Ala14Val |