Involved in the presentation of foreign antigens to the immune system. (updated: Oct. 10, 2018)
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
No sequence conservation computed yet.
This protein is annotated as membranous in Gene Ontology, is predicted to be membranous by TOPCONS.
Total structural coverage: 82%
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The reference OMIM entry for this protein is 142830
Major histocompatibility complex, class i, b; hla-b
Hla-b histocompatibility type abacavir hypersensitivity, susceptibility to, included
Synovitis, chronic, susceptibility to, included
Drug-induced liver injury due to flucloxacillin, included
For background information on the major histocompatibility complex (MHC) and human leukocyte antigens (HLAs), see HLA-A (142800).
MAPPING
Cann et al. (1983) found a restriction fragment that segregated with HLA-B8. Either the fragment carried the B8 specificity or represented another class I gene (or pseudogene) in linkage disequilibrium with HLA-B8. Dunham et al. (1987) used pulsed-field gel electrophoresis and 'cosmid walking' to establish a molecular map of the MHC region. They concluded that the MHC spans 3,800 kb. The HLA-B locus lies about 250 kb on the telomeric side of the tumor necrosis factor genes (see TNFA;
191160). Spies et al. (1989) found that the HLA-B gene is 210 kb from the TNFA and TNFB (
153440) genes. The class III gene C2 is separated from the HLA-B gene by 600 kb. Spies et al. (1989) concluded that a 600-kb DNA segment between C2 and HLA-B contains a minimum of 19 genes. In addition to BAT1 (
142560) through BAT5 (
142620), which had been localized to the vicinity of the TNFA and TNFB genes, 4 genes, called BAT6 through BAT9, were mapped near C2 within a 120-kb region that also includes a pair of heat-shock protein genes (see
140550). A large number of BssHII and SacII restriction sites, known to indicate the presence of multiple islands of CPG-rich sequences and in turn the association of expressed genes, occurred within 140 kb of DNA upstream from C2. In contrast, no gene was found within the 175-kb interval between BAT1 and HLA-B, which is relatively devoid of CPG-rich sequences. Bronson et al. (1991) isolated yeast artificial chromosome (YAC) clones carrying the HLA-B and HLA-C (
142840) genes. The loci were found to be located about 85 kb apart, each in close association with a CpG island.
GENE FUNCTION
Fleischhauer et al. (1990) demonstrated that a single amino acid difference in the HLA-B molecule is sufficient for the development of alloreactivity in vivo. They reported the case of a 29-year-old man with chronic myelogenous leukemia who received a bone marrow transplant from an unrelated female donor who was serologically HLA identical and compatible in mixed lymphocyte culture. However, they differed with respect to HLA-B44 subtypes B44.1 and B44.2, which were distinguishable by their characteristic band patterns in isoelectric-focusing (IEF) gel electrophoresis. The IEF difference, based on differences in charged amino acids, was found to be due to leucine versus aspartic acid at position 156. Leinders-Zufall et al. (2004) showed that small peptides that serve as ligands for MHC class I molecules function also as sensory stimuli for a subset of vomeronasal sensory neurons located in the basal G-alpha-o- (
139311) and V2R receptor (see
605234)-expressing zone of the vomeronasal epithelium. In behaving mice, the same peptides function as individuality signals underlying mate recognition in the context of pregnancy block. MHC peptides constitute a previously unknown family of chemosensory stimuli by which MHC genotypic diversity can influence social behavior.
MOLECULAR GENETICS
- HLA Bw4 and Bw6 Epitopes Lutz (2014) reviewed HLA Bw4 and Bw6. As a result of of transplantation, blood transfusion, or pregnancy, people are immunized and produce antibodies to 'private' epitopes, which are shared by few other HLA allele products, or 'public' epitopes, which are encoded by many HLA alleles. The most prominent public epitopes are Bw4 and Bw6. Either the Bw4 or the Bw6 epitope is expresse ...
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Subscribe to this protein entry history
Feb. 23, 2019: Protein entry updated
Automatic update: comparative model was added.
Feb. 23, 2019: Protein entry updated
Automatic update: model status changed
Oct. 20, 2018: Protein entry updated
Automatic update: OMIM entry 142830 was added.
Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).