HLA-B

HLA-B
Available structures PDB Human UniProt search: PDBe RCSB List of PDB id codes 3VCL, 4U1H, 4U1K, 5EO1, 5EO0,%%s1AGB, 1AGC, 1AGD, 1AGE, 1AGF, 1M05, 1MI5, 3FFC, 3SJV, 3SKM, 3SKO, 3SPV, 3X13, 3X14, 4QRP, 4QRQ, 4QRS, 4QRT, 4QRU,%%s4O2C, 4O2E, 4O2F,%%s3LN4, 3LN5,%%s4U1J, 4U1M, 4U1N,%%s4U1I, 4U1L, 4U1S,%%s1HSA, 1JGD, 1JGE, 1K5N, 1OF2, 1OGT, 1UXS, 1UXW, 1W0V, 1W0W, 2A83, 2BSR, 2BSS, 2BST, 3B3I, 3B6S, 3BP4, 3BP7, 3CZF, 3D18, 3DTX, 3HCV, 3LV3, 4G8G, 4G8I, 4G9D, 4G9F, 5DEF, 5DEG,%%s1A1N, 1A9B, 1A9E, 1CG9, 1XH3, 1ZHK, 1ZHL, 1ZSD, 2AK4, 2AXF, 2AXG, 2H6P, 2NW3, 2NX5, 3BW9, 3BWA, 3KWW, 3KXF, 3LKN, 3LKO, 3LKP, 3LKQ, 3LKR, 3LKS, 3MV7, 3MV8, 3MV9, 3VFS, 3VFT, 3VFU, 3VFV, 3VFW, 4LNR, 4PR5, 4PRN, 4QRR,%%s1A1M, 1A1O,%%s2BVO, 2BVP, 2BVQ, 2HJL, 2RFX, 2YPK, 2YPL, 3UPR, 3VH8, 3VRI, 3VRJ, 3WUW, 3X11, 3X12, 5B39, 5B38,%%s4JQV, 4XXC,%%s1XR8, 1XR9, 3C9N,%%s4LCY,%%s1M6O, 1N2R, 1SYV, 3DX6, 3DX7, 3DX8, 3DXA, 3KPL, 3KPM, 3KPN, 3KPO, 3KPP, 3KPQ, 3KPR, 3KPS, 3L3D, 3L3G, 3L3I, 3L3J, 4JQX,%%s1E27, 1E28, 4MJI,%%s3W39
Identifiers
Aliases	HLA-B, AS, SPDA1, Bw-47, Bw-50, major histocompatibility complex, class I, B, B-4901, B-5001, HEL-S-83, HLA-B*45ZJ, HLA-B-3506, HLA-B-3905, HLA-B-5502, HLA-B-5602, HLA-B15, HLA-B39, HLA-B49, HLA-B50, HLA-B55, HLA-B59, HLA-B61, HLA-Cw, HLA-DRB1
External IDs	HomoloGene: 134029; GeneCards: HLA-B; OMA:HLA-B - orthologs
Gene location (Human) Chr. Chromosome 6 (human) Band 6p21.33 Start 31,353,872 bp End 31,367,067 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in blood spleen granulocyte upper lobe of left lung appendix bone marrow cells right lung monocyte lymph node epithelium of colon n/a More reference expression data BioGPS More reference expression data
Gene ontology Molecular function signaling receptor binding peptide antigen binding Cellular component integral component of membrane phagocytic vesicle membrane Golgi apparatus early endosome membrane membrane Golgi membrane plasma membrane integral component of plasma membrane cell surface endoplasmic reticulum MHC class I protein complex ER to Golgi transport vesicle membrane integral component of lumenal side of endoplasmic reticulum membrane extracellular exosome secretory granule membrane recycling endosome membrane Biological process antigen processing and presentation antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent regulation of interleukin-12 production interferon-gamma-mediated signaling pathway immune system process antigen processing and presentation of peptide antigen via MHC class I regulation of dendritic cell differentiation antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent protection from natural killer cell mediated cytotoxicity type I interferon signaling pathway immune response regulation of immune response regulation of T cell anergy viral process regulation of interleukin-6 production neutrophil degranulation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3106 n/a Ensembl ENSG00000228964 ENSG00000234745 ENSG00000206450 ENSG00000224608 ENSG00000223532 ENSG00000232126 n/a UniProt P01889 n/a RefSeq (mRNA) NM_005514 n/a RefSeq (protein) NP_005505 n/a Location (UCSC) Chr 6: 31.35 – 31.37 Mb n/a PubMed search n/a
Wikidata
View/Edit Human

HLA-B (major histocompatibility complex, class I, B) is a human gene that provides instructions for making a protein that plays a critical role in the immune system. HLA-B is part of a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders such as viruses and bacteria.

HLA is the human version of the major histocompatibility complex (MHC), a gene family that occurs in many species. Genes in this complex are separated into three basic groups: class I, class II, and class III. In humans, the HLA-B gene and two related genes, HLA-A and HLA-C, are the major genes in MHC class I.

MHC class I genes provide instructions for making proteins that are present on the surface of almost all cells. On the cell surface, these proteins are bound to protein fragments (peptides) that have been exported from within the cell. MHC class I proteins display these peptides to the immune system. If the immune system recognizes the peptides as foreign (such as viral or bacterial peptides), it responds by destroying the infected cell.

The HLA-B gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign invaders. Hundreds of versions (alleles) of HLA-B are known, each of which is given a particular number (such as HLA-B27). Closely related alleles are categorized together; for example, at least 28 very similar alleles are subtypes of HLA-B27. These subtypes are designated as HLA-B*2701 to HLA-B*2728.

The HLA-B gene is located on the short (p) arm of chromosome 6 at position 21.3, from base pair 31,429,845 to base pair 31,432,923.

Related conditions

Ankylosing spondylitis: A version of the HLA-B gene called HLA-B27 increases the risk of developing ankylosing spondylitis. It is uncertain how HLA-B27 causes this increased risk. Researchers speculate that HLA-B27 may abnormally display to the immune system peptides that trigger arthritis. Other research suggests that joint inflammation characteristic of this disorder may result from improper folding of the HLA-B27 protein or the presence of abnormal forms of the protein on the cell surface. Although most patients with ankylosing spondylitis have the HLA-B27 variation, many people with this particular variation never develop the disorder. Other genetic and environmental factors are likely to affect the chances of developing ankylosing spondylitis and influence its progression.

HLA-B27 is associated with the spondyloarthropathies, a group of disorders that includes ankylosing spondylitis and other inflammatory joint diseases. Some of these diseases are associated with a common skin condition called psoriasis or chronic inflammatory bowel disorders (Crohn's disease and ulcerative colitis). One of the spondyloarthropathies, reactive arthritis, is typically triggered by bacterial infections of the gastrointestinal or genital tract. Following an infection, affected individuals may develop arthritis, back pain, and eye inflammation. Like ankylosing spondylitis, many factors probably contribute to the development of reactive arthritis and other spondyloarthropathies.

Other disorders: Several variations of the HLA-B gene are associated with adverse reactions to certain drugs. For example, two specific versions of this gene are related to increased drug sensitivity among the Han Chinese population. Individuals who have HLA-B*1502 are more likely to experience a severe skin disorder called Stevens-Johnson syndrome in response to carbamazepine (a drug used to treat seizures). Another version, HLA-B*5801, is associated with an increased risk of severe skin reactions in people treated with allopurinol (a drug used to treat gout, which is a form of arthritis caused by uric acid in the joints).

Among people with human immunodeficiency virus (HIV) infection, a version of HLA-B designated HLA-B*5701 is associated with an extreme sensitivity to abacavir. This drug is a treatment for HIV-1 that slows the spread of the virus in the body. People with abacavir hypersensitivity often develop a fever, chills, rash, upset stomach, and other symptoms when treated with this drug.

Several other variations of the HLA-B gene appear to play a role in the progression of HIV infection to acquired immunodeficiency syndrome (AIDS). AIDS is a disease that damages the immune system, preventing it from effectively defending the body against infections. The signs and symptoms of AIDS may not appear until 10 years or more after infection with HIV. Studies suggest that people with HIV infection who have HLA-B27 or HLA-B57 tend to progress more slowly than usual to AIDS. On the other hand, researchers believe that HIV-positive individuals who have HLA-B35 tend to develop the signs and symptoms of AIDS more quickly than usual. Other factors also influence the progression of HIV to AIDS.

Another version of the HLA-B gene, HLA-B53, has been shown to help protect against severe malaria . HLA-B53 is most common in West African populations, where malaria is a frequent cause of death in children. Researchers suggest that this version of the HLA-B gene may help the immune system respond more effectively to the parasite that causes malaria.

Further Reading

• Brown MA, Crane AM, Wordsworth BP (2002). "Genetic aspects of susceptibility, severity, and clinical expression in ankylosing spondylitis". Curr Opin Rheumatol. 14 (4): 354–60. doi:10.1097/00002281-200207000-00004. PMID 12118167.{{cite journal}}: CS1 maint: multiple names: authors list (link)
• Carrington M, O'Brien SJ (2003). "The influence of HLA genotype on AIDS". Annu Rev Med. 54: 535–51. doi:10.1146/annurev.med.54.101601.152346. PMID 12525683.
• Chung WH, Hung SI, Hong HS, Hsih MS, Yang LC, Ho HC, Wu JY, Chen YT (2004). "Medical genetics: a marker for Stevens-Johnson syndrome". Nature. 428 (6982): 486. doi:10.1038/428486a. PMID 15057820.{{cite journal}}: CS1 maint: multiple names: authors list (link)
• Colbert RA (2004). "The immunobiology of HLA-B27: variations on a theme". Curr Mol Med. 4 (1): 21–30. doi:10.2174/1566524043479293. PMID 15011956.
• Colmegna I, Cuchacovich R, Espinoza LR (2004). "HLA-B27-associated reactive arthritis: pathogenetic and clinical considerations". Clin Microbiol Rev. 17 (2): 348–69. doi:10.1128/CMR.17.2.348-369.2004. PMID 15084505.{{cite journal}}: CS1 maint: multiple names: authors list (link) Full text
• Cooke GS, Hill AV (2001). "Genetics of susceptibility to human infectious disease". Nat Rev Genet. 2 (12): 967–77. doi:10.1038/35103577. PMID 11733749.
• Gao X, Nelson GW, Karacki P, Martin MP, Phair J, Kaslow R, Goedert JJ, Buchbinder S, Hoots K, Vlahov D, O'Brien SJ, Carrington M (2001). "Effect of a single amino acid change in MHC class I molecules on the rate of progression to AIDS". N Engl J Med. 344 (22): 1668–75. doi:10.1056/NEJM200105313442203. PMID 11386265.{{cite journal}}: CS1 maint: multiple names: authors list (link)
• Hetherington S, Hughes AR, Mosteller M, Shortino D, Baker KL, Spreen W, Lai E, Davies K, Handley A, Dow DJ, Fling ME, Stocum M, Bowman C, Thurmond LM, Roses AD (2002). "Genetic variations in HLA-B region and hypersensitivity reactions to abacavir". Lancet. 359 (9312): 1121–2. doi:10.1016/S0140-6736(02)08158-8. PMID 11943262.{{cite journal}}: CS1 maint: multiple names: authors list (link)
• Hung SI, Chung WH, Liou LB, Chu CC, Lin M, Huang HP, Lin YL, Lan JL, Yang LC, Hong HS, Chen MJ, Lai PC, Wu MS, Chu CY, Wang KH, Chen CH, Fann CS, Wu JY, Chen YT (2005). "HLA-B*5801 allele as a genetic marker for severe cutaneous adverse reactions caused by allopurinol". Proc Natl Acad Sci U S A. 102 (11): 4134–9. doi:10.1073/pnas.0409500102. PMID 15743917.{{cite journal}}: CS1 maint: multiple names: authors list (link) Full text
• Khan MA, Ball EJ (2002). "Genetic aspects of ankylosing spondylitis". Best Pract Res Clin Rheumatol. 16 (4): 675–90. PMID 12406434.
• Khan MA (2002). "Update on spondyloarthropathies". Ann Intern Med. 136 (12): 896–907. PMID 12069564. Full text (PDF)
• Letvin NL, Walker BD (2003). "Immunopathogenesis and immunotherapy in AIDS virus infections". Nat Med. 9 (7): 861–6. doi:10.1038/nm0703-861. PMID 12835706.
• Migueles SA, Sabbaghian MS, Shupert WL, Bettinotti MP, Marincola FM, Martino L, Hallahan CW, Selig SM, Schwartz D, Sullivan J, Connors M (2000). "HLA B*5701 is highly associated with restriction of virus replication in a subgroup of HIV-infected long term nonprogressors". Proc Natl Acad Sci U S A. 97 (6): 2709–14. doi:10.1073/pnas.050567397. PMID 10694578.{{cite journal}}: CS1 maint: multiple names: authors list (link) Full text
• Sheehan NJ (2004). "The ramifications of HLA-B27". J R Soc Med. 97 (1): 10–4. doi:10.1258/jrsm.97.1.10. PMID 14702356.

This article incorporates public domain text from The U.S. National Library of Medicine

External links

• Online Mendelian Inheritance in Man (OMIM): 142830
• EntrezGene 3106
• GeneCard for HLA-B

• Nomenclature for factors of the HLA system