HLA-DQA1 (major histocompatibility complex, class II, DQ alpha 1)

基因基本信息

基因基本信息

symbol:
HLA-DQA1
locus group:
protein-coding gene
location:
6p21.32
gene_family:
Histocompatibility complex|C1-set domain containing
alias symbol:
CELIAC1
alias name:
None
entrez id:
3117
ensembl gene id:
ENSG00000196735
ucsc gene id:
uc003obr.4
refseq accession:
NM_002122
hgnc_id:
HGNC:4942
approved reserved:
2001-06-22

基因染色体位置

基因染色体位置

6p21.32
基因染色体位置图

基因简述

基因简述

HLA-DQA1是人类白细胞抗原（HLA）基因家族中的一员，属于MHC II类基因家族。这个基因家族主要负责编码免疫系统中重要的蛋白质，参与抗原呈递过程，帮助免疫系统识别外来病原体。HLA-DQA1基因位于第6号染色体上，编码HLA-DQα链，与HLA-DQB1基因编码的β链共同形成HLA-DQ异二聚体，表达在抗原呈递细胞表面。HLA-DQ分子在免疫应答中起关键作用，能够结合外源性抗原肽段并将其呈递给CD4+ T细胞，从而激活适应性免疫反应。HLA-DQA1基因具有高度多态性，不同等位基因可能导致个体对疾病易感性或抵抗性的差异。某些HLA-DQA1等位基因与自身免疫疾病密切相关，特别是1型糖尿病、乳糜泻和类风湿性关节炎。例如，HLA-DQA10501等位基因与乳糜泻高度相关，而HLA-DQA10301等位基因与1型糖尿病风险增加有关。HLA-DQA1基因突变可能影响其编码蛋白的结构和功能，导致抗原呈递异常，可能引发自身免疫反应或免疫缺陷。如果HLA-DQA1过表达，可能导致过度免疫激活，增加自身免疫疾病风险；而表达降低则可能削弱免疫应答，使机体更容易感染。HLA-DQA1与其他HLA II类基因（如HLA-DQB1、HLA-DRA、HLA-DRB1等）协同工作，共同调节免疫系统功能。HLA基因家族的共性在于它们都编码细胞表面糖蛋白，参与抗原呈递和免疫识别，具有高度多态性，并且在移植排斥反应和疾病易感性中起重要作用。

HLA-DQA1 belongs to the HLA class II alpha chain paralogues. The 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 alpha chain is approximately 33-35 kDa. It is encoded by 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. 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. [provided by RefSeq, Jul 2008]

None

OMIM数据库中对HLA-DQA1基因的介绍     Wikipedia数据库中对HLA-DQA1基因的介绍

基因序列

基因序列

HLA-DQA1基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

HLA-DQA1基因的碱基突变：           仅显示部分snp
rs3667       rs3667       rs3667       rs3667       rs3667       rs3667       rs3667       rs4193       rs4193       rs4193       rs4193       rs4193       rs4193       rs4193       rs7142       rs7142       rs7142      

基因表达

基因表达

HLA-DQA1基因在不同组织中的表达：    [UniProt]

基因在不同组织中的表达图

基因引物

基因引物

正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
CTAAACAAAGCTCTGCTGCT
59
GAGATGGATCCCACAATGTC
58
CTGCTACCAATGAGGTTCCT
60
GACAAATGAGGGTGTTGGG
59
TGATGCTACAGAGATGTGAGG
59
GTGTTCTGAGCTGAGTGGT
60
CTCACCTTCCTCCCTTCTG
59
GAATCTCAGGCTCCCAGTG
60
CTCACCTTCCTCCCTTCTG
59
GAATCTCAGGCTCCCAGTG
60
TGAAGACATTGTGGCTGAC
58
AATTCATGGGTGTACTGGC
58
TGAAGACATTGTGGCTGAC
58
AATTCATGGGTGTACTGGC
58
CTCACCTTCCTCCCTTCTG
59
GAATCTCAGGCTCCCAGTG
60
CTGCTACCAATGAGGTTCC
58
GACAAATGAGGGTGTTGGG
59
CTAAACAAAGCTCTGCTGC
57
GAGATGGATCCCACAATGTC
58

转录因子

转录因子

转录因子
影响基因
影响类型
参考文献链接（PubMed）
ILF3
HLA-DQA1
Unknown
7651394
RFX5
HLA-DQA1
Unknown
11258423
RFXANK
HLA-DQA1
Unknown
11258423
RFXAP
HLA-DQA1
Unknown
11258423

基因本体信息

HLA-DQA1基因（以及对应的蛋白质）的细胞分布位置：

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 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-DQA1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0002504
A0A0G2JPN2 (UniProtKB)
IEA
GO:0006955
A0A0G2JPN2 (UniProtKB)
IEA
GO:0016021
A0A0G2JPN2 (UniProtKB)
IEA
GO:0042613
A0A0G2JPN2 (UniProtKB)
IEA
GO:0006955
A0A140TA53 (UniProtKB)
IEA
GO:0019882
A0A140TA53 (UniProtKB)
IEA
GO:0042613
A0A140TA53 (UniProtKB)
IEA
GO:0002504
E9PMV2 (UniProtKB)
IEA
GO:0006955
E9PMV2 (UniProtKB)
IEA
GO:0016021
E9PMV2 (UniProtKB)
IEA
GO:0042613
E9PMV2 (UniProtKB)
IEA
GO:0000139
P01909 (UniProtKB)
TAS
GO:0000139
P01909 (UniProtKB)
TAS
GO:0005765
P01909 (UniProtKB)
TAS
GO:0005765
P01909 (UniProtKB)
TAS
GO:0005765
P01909 (UniProtKB)
TAS
GO:0005765
P01909 (UniProtKB)
TAS
GO:0005765
P01909 (UniProtKB)
TAS
GO:0005765
P01909 (UniProtKB)
TAS
GO:0005765
P01909 (UniProtKB)
TAS
GO:0005765
P01909 (UniProtKB)
TAS
GO:0005886
P01909 (UniProtKB)
TAS
GO:0005886
P01909 (UniProtKB)
TAS
GO:0005886
P01909 (UniProtKB)
TAS
GO:0005886
P01909 (UniProtKB)
TAS
GO:0005886
P01909 (UniProtKB)
TAS
GO:0005886
P01909 (UniProtKB)
TAS
GO:0005886
P01909 (UniProtKB)
TAS
GO:0005886
P01909 (UniProtKB)
TAS
GO:0005886
P01909 (UniProtKB)
TAS
GO:0005886
P01909 (UniProtKB)
TAS
GO:0005886
P01909 (UniProtKB)
TAS
GO:0005886
P01909 (UniProtKB)
TAS
GO:0005886
P01909 (UniProtKB)
TAS
GO:0005886
P01909 (UniProtKB)
TAS
GO:0005886
P01909 (UniProtKB)
TAS
GO:0005886
P01909 (UniProtKB)
TAS
GO:0005886
P01909 (UniProtKB)
TAS
GO:0005887
P01909 (UniProtKB)
NAS
GO:0005887
P01909 (UniProtKB)
NAS
GO:0006955
P01909 (UniProtKB)
NAS
GO:0006955
P01909 (UniProtKB)
NAS
GO:0010008
P01909 (UniProtKB)
IEA
GO:0012507
P01909 (UniProtKB)
TAS
GO:0012507
P01909 (UniProtKB)
TAS
GO:0016020
P01909 (UniProtKB)
IDA
GO:0019886
P01909 (UniProtKB)
TAS
GO:0030658
P01909 (UniProtKB)
TAS
GO:0030658
P01909 (UniProtKB)
TAS
GO:0030666
P01909 (UniProtKB)
TAS
GO:0030666
P01909 (UniProtKB)
TAS
GO:0030669
P01909 (UniProtKB)
TAS
GO:0030669
P01909 (UniProtKB)
TAS
GO:0031295
P01909 (UniProtKB)
TAS
GO:0032395
P01909 (UniProtKB)
TAS
GO:0032395
P01909 (UniProtKB)
NAS
GO:0032395
P01909 (UniProtKB)
NAS
GO:0032588
P01909 (UniProtKB)
TAS
GO:0032588
P01909 (UniProtKB)
TAS
GO:0032588
P01909 (UniProtKB)
TAS
GO:0032588
P01909 (UniProtKB)
TAS
GO:0032588
P01909 (UniProtKB)
TAS
GO:0042605
P01909 (UniProtKB)
ISS
GO:0042613
P01909 (UniProtKB)
ISS
GO:0050852
P01909 (UniProtKB)
TAS
GO:0060333
P01909 (UniProtKB)
TAS
GO:0071556
P01909 (UniProtKB)
TAS
GO:0071556
P01909 (UniProtKB)
TAS
GO:0071556
P01909 (UniProtKB)
TAS
GO:0071556
P01909 (UniProtKB)
TAS
GO:0002504
Q5Y7D2 (UniProtKB)
IEA
GO:0006955
Q5Y7D2 (UniProtKB)
IEA
GO:0016021
Q5Y7D2 (UniProtKB)
IEA
GO:0042613
Q5Y7D2 (UniProtKB)
IEA

基因相关microRNA

基因相关microRNA

可能调控 HLA-DQA1基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

Reactome

MINT

BioGrid

IntAct

mentha

String

基因与其他基因之间的相互作用关系图
序号 作用方式 资源库来源/分值 基因名称 基因名称

基因通路

基因通路

基因相关疾病

基因相关疾病

疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
Celiac Disease 0.344489358 73 1 BeFree_CTD_human_GAD_GWASCAT_LHGDN
Diabetes Mellitus, Insulin-Dependent 0.342549538 184 2 BeFree_CTD_human_GAD_GWASCAT_LHGDN
Lupus Erythematosus, Systemic 0.257926433 14 1 BeFree_CTD_human_GAD_GWASCAT
Asthma 0.255373836 8 1 BeFree_CTD_human_GAD_GWASCAT_LHGDN
Hypersensitivity 0.124734064 3 0 CTD_human_GAD
Ulcerative Colitis 0.124734064 3 2 GAD_GWASCAT
Membranous glomerulonephritis 0.123181358 5 0 BeFree_CTD_human_GAD
Dermatitis 0.122367032 2 0 CTD_human_GAD
Eosinophilia-Myalgia Syndrome 0.122367032 1 0 CTD_human_GAD
Idiopathic Membranous Glomerulonephritis 0.121900093 7 1 BeFree_GWASCAT

基因相关服务

基因相关服务

联系方式

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