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HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]
HLA-B (Major Histocompatibility Complex, Class I, B) is a Protein Coding gene. Diseases associated with HLA-B include Severe Cutaneous Adverse Reaction and Spondyloarthropathy 1. Among its related pathways are Immune response Role of DAP12 receptors in NK cells and Measles. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and peptide antigen binding. An important paralog of this gene is HLA-C.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005102 | signaling receptor binding | IPI | 8046333 |
GO:0005515 | protein binding | IPI | 19858347 |
GO:0042605 | peptide antigen binding | IDA | 22031944 |
GO:0046977 | NOT TAP binding | IDA | 8617941 |
GO:0051087 | chaperone binding | IPI | 15056662 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0005783 | endoplasmic reticulum | IEA,IDA | 20946353 |
GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
GO:0005794 | Golgi apparatus | IDA | 20946353 |
GO:0005886 | plasma membrane | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Allograft rejection |
CTL Mediated Apoptosis
.38
|
|
2 | Antigen processing-Cross presentation |
Immune response Antigen presentation by MHC class I
.51
|
|
3 | Human cytomegalovirus infection | ||
4 | Innate Immune System |
.61
|
|
5 | Immune response Role of DAP12 receptors in NK cells |
Immune response Role of DAP12 receptors in NK cells
.32
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001916 | positive regulation of T cell mediated cytotoxicity | IDA | 2420472 |
GO:0002250 | adaptive immune response | IEA | -- |
GO:0002376 | immune system process | IEA | -- |
GO:0002474 | antigen processing and presentation of peptide antigen via MHC class I | TAS | -- |
GO:0002479 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Abacavir | Approved, Investigational | Pharma | Target | 234 | ||
Carbamazepine | Approved, Investigational | Pharma | Inhibitor of neuronal voltage-gated Na+ channels; anticonvulsant | 107 | ||
Coccidioides immitis spherule | Approved | Pharma | Target | 0 | ||
Acetazolamide | Approved, Vet_approved | Pharma | 120 | |||
Allopurinol | Approved | Pharma | 182 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Glycerylphosphorylethanolamine |
|
1190-00-7 |
|
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PATR-B 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BOLA-A 30 |
|
||
Dog (Canis familiaris) |
Mammalia | DLA88 30 |
|
||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100217322 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC796419 30 |
|