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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]
HLA-DQA1 (Major Histocompatibility Complex, Class II, DQ Alpha 1) is a Protein Coding gene. Diseases associated with HLA-DQA1 include Celiac Disease 1 and Adult-Onset Myasthenia Gravis. Among its related pathways are TCR Signaling (Qiagen) and Tuberculosis. Gene Ontology (GO) annotations related to this gene include peptide antigen binding and MHC class II receptor activity. An important paralog of this gene is HLA-DQA2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 14769912 |
GO:0032395 | MHC class II receptor activity | TAS | 2300572 |
GO:0042605 | peptide antigen binding | ISS | 20356827 |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0005764 | lysosome | IEA | -- |
GO:0005765 | lysosomal membrane | TAS | -- |
GO:0005768 | endosome | IEA | -- |
GO:0005783 | endoplasmic reticulum | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Allograft rejection |
.44
|
THC Differentiation Pathway
.39
CTL Mediated Apoptosis
.38
|
2 | Th17 cell differentiation |
Immune response IL-22 signaling pathway
.36
|
|
3 | Translocation of ZAP-70 to Immunological synapse |
.71
|
|
4 | ICos-ICosL Pathway in T-Helper Cell |
CD28 Signaling in T-Helper Cell
.66
ICos-ICosL Pathway in T-Helper Cell
.66
|
Calcium Mediated T-Cell Apoptosis
.31
|
5 | TCR Signaling (Qiagen) |
PKC-Theta Pathway
.68
TCR Signaling
.68
|
ITK and TCR Signaling
.54
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002250 | adaptive immune response | IEA | -- |
GO:0002376 | immune system process | IEA | -- |
GO:0002504 | antigen processing and presentation of peptide or polysaccharide antigen via MHC class II | IEA | -- |
GO:0006955 | immune response | NAS | 3584986 |
GO:0019882 | antigen processing and presentation | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Azathioprine | Approved | Pharma | 227 | |||
Interferon beta-1a | Approved, Investigational | Pharma | 221 | |||
Interferon beta-1b | Approved | Pharma | 95 | |||
Lapatinib | Approved, Investigational | Pharma | EGFR/HER2 inhibitor,potent,selective and reversible, HER2 and EGFR kinase inhibitor, HER2 Inhibitors, Kinase Inhibitors, Epidermal growth factor receptor (EGFR) inhibitors | 314 | ||
Mercaptopurine | Approved | Pharma | 232 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PATR-DQA1 30 |
|
||
-- 31 |
|
ManyToMany | |||
Cow (Bos Taurus) |
Mammalia | LOC100848815 30 |
|
||
BOLA-DQA1 31 |
|
ManyToMany | |||
BOLA-DQA5 31 |
|
ManyToMany | |||
BOLA-DQA2 31 |
|
ManyToMany | |||
Mouse (Mus musculus) |
Mammalia | H2-Aa 30 17 31 |
|
OneToMany | |
Rat (Rattus norvegicus) |
Mammalia | RT1-Ba 30 |
|
||
Dog (Canis familiaris) |
Mammalia | DLA-DQA 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Zebrafish (Danio rerio) |
Actinopterygii | si:busm1-266f07.2 31 |
|
ManyToMany |
Disorder | Aliases | PubMed IDs |
---|---|---|
celiac disease 1 |
|
|
adult-onset myasthenia gravis |
|
|
achalasia, familial esophageal |
|
|
podoconiosis |
|
|
toxoplasmosis |
|
|