HLA-DQB1 (major histocompatibility complex, class II, DQ beta 1)
- symbol:
- HLA-DQB1
- locus group:
- protein-coding gene
- location:
- 6p21.32
- gene_family:
- Histocompatibility complex|C1-set domain containing
- alias symbol:
- IDDM1|CELIAC1
- alias name:
- None
- entrez id:
- 3119
- ensembl gene id:
- ENSG00000179344
- ucsc gene id:
- uc063nrh.1
- refseq accession:
- NM_002123
- hgnc_id:
- HGNC:4944
- approved reserved:
- 2001-06-22
HLA-DQB1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，位于第6号染色体上。HLA基因家族编码主要组织相容性复合体（MHC）蛋白，在免疫系统中起关键作用，负责抗原呈递以激活T细胞。HLA-DQB1编码的蛋白质是HLA-DQ异源二聚体的一部分，与HLA-DQA1编码的α链共同形成HLA-DQ分子，主要表达于抗原呈递细胞（如树突状细胞、B细胞和巨噬细胞）表面。该基因的生物学功能涉及识别和结合外源性抗原肽段，并将其呈递给CD4+ T细胞，从而启动适应性免疫应答。HLA-DQB1具有高度多态性，不同等位基因会影响抗原结合的特异性和免疫反应强度。突变可能导致蛋白质结构改变，影响抗原呈递功能，进而引发自身免疫疾病或免疫缺陷。例如，HLA-DQB1*02:01等位基因与乳糜泻密切相关，而HLA-DQB1*06:02与发作性睡病强相关。HLA-DQB1*03:01等位基因则与1型糖尿病风险增加有关。过表达HLA-DQB1可能增强免疫反应，但也可能增加自身免疫疾病风险；而表达降低可能导致免疫应答减弱，增加感染易感性或肿瘤发生风险。HLA II类基因家族成员（包括HLA-DP、-DQ和-DR）均编码异源二聚体，参与外源性抗原呈递，但各自具有不同的抗原结合偏好性和组织分布。HLA-DQB1的多态性在器官移植配型中至关重要，错配可能导致移植排斥反应。此外，某些病毒（如EB病毒）可能利用HLA-DQ分子进行免疫逃逸。该基因的表达受细胞因子（如IFN-γ）调控，在炎症条件下表达上调。研究HLA-DQB1有助于理解自身免疫病机制、开发个体化免疫疗法及改进移植匹配策略。
HLA-DQB1 belongs to the HLA class II beta chain paralogs. This class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), 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 it contains six exons. Exon 1 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 DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
None
基因本体信息
HLA-DQB1基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
HLA-DQB1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 |
| Narcolepsy | 0.40901156 | 45 | 2 | BeFree_CTD_human_GAD_GWASCAT_LHGDN_ORPHANET |
| Diabetes Mellitus, Insulin-Dependent | 0.249975099 | 347 | 7 | BeFree_CTD_human_GAD_LHGDN |
| Drug-Induced Liver Injury | 0.242367032 | 1 | 1 | CTD_human_GAD_GWASCAT |
| Celiac Disease | 0.22612794 | 82 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Multiple Sclerosis | 0.220689171 | 59 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Asthma | 0.165949754 | 23 | 1 | BeFree_CTD_human_GAD_LHGDN |
| Systemic Scleroderma | 0.15220457 | 24 | 2 | BeFree_CTD_human_GAD |
| Urticaria | 0.12973957 | 5 | 0 | BeFree_CTD_human_GAD |
| Hypersensitivity | 0.129468128 | 5 | 0 | CTD_human_GAD |
| IGA Glomerulonephritis | 0.128458305 | 9 | 2 | BeFree_CTD_human_GAD |
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