HLA-DRA (major histocompatibility complex, class II, DR alpha)
- symbol:
- HLA-DRA
- locus group:
- protein-coding gene
- location:
- 6p21.32
- gene_family:
- Histocompatibility complex|C1-set domain containing
- alias symbol:
- None
- alias name:
- None
- entrez id:
- 3122
- ensembl gene id:
- ENSG00000204287
- ucsc gene id:
- uc003obh.5
- refseq accession:
- NM_019111
- hgnc_id:
- HGNC:4947
- approved reserved:
- 2001-06-22
HLA-DRA（人类白细胞抗原-DR α链）是主要组织相容性复合体（MHC）II类基因家族的重要成员，位于人类第6号染色体短臂上。该基因编码的蛋白质与HLA-DRB基因编码的β链共同构成HLA-DR异二聚体，在免疫系统中发挥核心作用。HLA-DRA的主要功能是参与抗原呈递过程，将外源性抗原肽段展示给CD4+ T细胞，从而激活适应性免疫应答。这一过程对抵御病原体感染和维持免疫稳态至关重要。HLA-DRA蛋白表达于抗原呈递细胞（如树突状细胞、巨噬细胞和B细胞）表面，其多态性虽不如HLA-DRB基因显著，但α链的稳定表达是形成功能性MHC II类分子的必要条件。HLA-DRA突变可能导致蛋白质结构异常或表达缺失，进而引起MHC II类分子缺陷症（裸淋巴细胞综合征），表现为严重联合免疫缺陷，患者易发生反复感染。该基因与多种自身免疫性疾病相关，包括类风湿关节炎、1型糖尿病和多发性硬化症，这些疾病中常观察到HLA-DR分子异常表达或功能改变。HLA-DRA过表达可能导致过度免疫激活，增加自身免疫风险；而表达降低则会削弱抗原呈递能力，导致免疫应答缺陷。作为MHC II类基因家族成员，HLA-DRA与其他家族基因（如HLA-DP和HLA-DQ）共享相似结构和功能，都具有抗原结合槽和T细胞受体识别区域，但各自呈现不同的抗原肽段。该基因家族在免疫识别中具有高度多态性，能应对多样化的病原体威胁。
HLA-DRA is one of the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha and a beta chain, 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 alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. DRA does not have polymorphisms in the peptide binding part and acts as the sole alpha chain for DRB1, DRB3, DRB4 and DRB5. [provided by RefSeq, Jul 2008]
None
基因本体信息
HLA-DRA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-DRA基因的本体（GO）信息：
| 名称 |
|---|
| 4514 Cell adhesion molecules (CAMs) [PATH:hsa04514] |
| 4145 Phagosome [PATH:hsa04145] |
| 4640 Hematopoietic cell lineage [PATH:hsa04640] |
| 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 |
| Multiple Sclerosis | 0.2601079 | 10 | 5 | BeFree_CTD_human_GAD_GWASCAT_LHGDN |
| Parkinson Disease | 0.243452799 | 6 | 1 | BeFree_CTD_human_GAD_GWASCAT |
| Diabetes Mellitus, Insulin-Dependent | 0.13947914 | 9 | 5 | BeFree_GAD_GWASCAT |
| Systemic Scleroderma | 0.122367032 | 1 | 1 | GAD_GWASCAT |
| Prediabetes syndrome | 0.08 | 1 | 0 | RGD |
| Ulcerative Colitis | 0.012106602 | 6 | 3 | BeFree_GAD |
| Lupus Erythematosus, Systemic | 0.010011012 | 5 | 3 | BeFree_GAD |
| Celiac Disease | 0.009468128 | 4 | 0 | GAD |
| Rheumatoid Arthritis | 0.007372538 | 4 | 0 | BeFree_GAD |
| Asthma | 0.005819831 | 6 | 2 | BeFree_GAD |
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