HLA-DPB1是人类白细胞抗原(HLA)系统中的一个重要基因,属于HLA II类基因家族,该家族还包括HLA-DQ和HLA-DR等基因。HLA II类基因家族的主要共性是编码细胞表面的糖蛋白,这些蛋白在免疫系统中起关键作用,负责将外来抗原呈递给CD4+ T细胞,从而激活适应性免疫应答。HLA-DPB1基因位于第6号染色体上,编码HLA-DP β链,与HLA-DP α链结合形成HLA-DP异二聚体,参与抗原呈递过程。HLA-DPB1具有高度多态性,不同等位基因可能导致个体对某些疾病易感性或抵抗性的差异。该基因的突变可能影响其抗原结合能力或与T细胞受体的相互作用,从而削弱免疫应答或导致自身免疫疾病。HLA-DPB1与多种疾病相关,包括类风湿性关节炎、系统性红斑狼疮、1型糖尿病和某些感染性疾病如结核病。此外,HLA-DPB1在造血干细胞移植中尤为重要,供体与受体之间的HLA-DPB1不匹配可能导致移植物抗宿主病(GVHD)或移植排斥。HLA-DPB1过表达可能增强抗原呈递效率,但过度激活免疫系统也可能增加自身免疫疾病风险;而降低表达可能导致免疫应答减弱,增加感染风险或肿瘤逃避免疫监视的能力。由于HLA-DPB1的多态性,不同个体对特定病原体或疫苗的反应可能存在差异,这使得它在个性化医疗和疫苗开发中具有重要研究价值。
HLA-DPB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta chain (DPB), 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 and its gene contains 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 DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. [provided by RefSeq, Jul 2008]
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HLA-DPB1基因(以及对应的蛋白质)的细胞分布位置:
HLA-DPB1基因的本体(GO)信息:
名称 |
---|
4514 Cell adhesion molecules (CAMs) [PATH:hsa04514] |
4145 Phagosome [PATH:hsa04145] |
4612 Antigen processing and presentation [PATH:hsa04612] |
4672 Intestinal immune network for IgA production [PATH:hsa04672] |
5310 Asthma [PATH:hsa05310] |
5322 Systemic lupus erythematosus [PATH:hsa05322] |
5323 Rheumatoid arthritis [PATH:hsa05323] |
5320 Autoimmune thyroid disease [PATH:hsa05320] |
5321 Inflammatiory bowel disease (IBD) [PATH:hsa05321] |
5330 Allograft rejection [PATH:hsa05330] |
5332 Graft-versus-host disease [PATH:hsa05332] |
5416 Viral myocarditis [PATH:hsa05416] |
4940 Type I diabetes mellitus [PATH:hsa04940] |
5150 Staphylococcus aureus infection [PATH:hsa05150] |
5152 Tuberculosis [PATH:hsa05152] |
5166 HTLV-I infection [PATH:hsa05166] |
5164 Influenza A [PATH:hsa05164] |
5168 Herpes simplex infection [PATH:hsa05168] |
5169 Epstein-Barr virus infection [PATH:hsa05169] |
5145 Toxoplasmosis [PATH:hsa05145] |
5140 Leishmaniasis [PATH:hsa05140] |
名称 |
---|
Adaptive Immune System |
Costimulation by the CD28 family |
Cytokine Signaling in Immune system |
Downstream TCR signaling |
Generation of second messenger molecules |
Immune System |
Interferon gamma signaling |
Interferon Signaling |
MHC class II antigen presentation |
PD-1 signaling |
Phosphorylation of CD3 and TCR zeta chains |
TCR signaling |
Translocation of ZAP-70 to Immunological synapse |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Asthma | 0.267185251 | 14 | 1 | BeFree_CTD_human_GAD_GWASCAT_LHGDN |
Hepatitis B, Chronic | 0.250901282 | 18 | 5 | BeFree_CTD_human_GAD_GWASCAT |
Multiple Sclerosis | 0.147199064 | 22 | 0 | BeFree_CTD_human_GAD |
Systemic Scleroderma | 0.135830843 | 9 | 1 | BeFree_GAD_GWASCAT |
Hepatitis B | 0.132334436 | 29 | 5 | BeFree_GAD_GWASCAT |
Berylliosis | 0.13183516 | 9 | 0 | CTD_human_GAD |
Celiac Disease | 0.131444166 | 20 | 0 | BeFree_CTD_human_GAD |
Rheumatoid Arthritis | 0.130434343 | 25 | 0 | BeFree_CTD_human_GAD |
Chronic berylliosis | 0.127057489 | 26 | 0 | BeFree_ORPHANET |
Sarcoidosis | 0.126634157 | 9 | 0 | BeFree_CTD_human_GAD |
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