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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]
HLA-DRA (Major Histocompatibility Complex, Class II, DR Alpha) is a Protein Coding gene. Diseases associated with HLA-DRA include Graham-Little-Piccardi-Lassueur Syndrome and Heart Lymphoma. 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-DPA1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 9354468 |
GO:0023026 | MHC class II protein complex binding | HDA | 20458337 |
GO:0030247 | polysaccharide binding | IDA | 21502329 |
GO:0032395 | MHC class II receptor activity | NAS | 6304715 |
GO:0042605 | peptide antigen binding | IDA | 1448172 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0005764 | lysosome | IDA | 8890155 |
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:0002503 | peptide antigen assembly with MHC class II protein complex | IDA | 1448172 |
GO:0002504 | antigen processing and presentation of peptide or polysaccharide antigen via MHC class II | IEA,IDA | 21502329 |
GO:0006955 | immune response | IEA,NAS | 6304715 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PATR-DRA 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DLA-DRA 30 |
|
||
DLA-DRA1 31 |
|
OneToOne | |||
Cow (Bos Taurus) |
Mammalia | BOLA-DRA 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | RT1-Da 30 |
|
||
Mouse (Mus musculus) |
Mammalia | H2-Ea-ps 30 |
|
||
H2-Ea 17 |
|
||||
Oppossum (Monodelphis domestica) |
Mammalia | HLA-DRA 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | oan-mir-1342 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | BLA 30 |
|
||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Zebrafish (Danio rerio) |
Actinopterygii | zgc:123107 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
743767 | Benign: not provided | 32,442,494(+) | A/G | SYNONYMOUS_VARIANT | |
789589 | Benign: not provided | 32,443,749(+) | C/T | INTRON_VARIANT | |
rs16822586 | - | p.Val16Leu | |||
rs7192 | - | p.Val242Leu |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv10404n54 | CNV | loss | 21841781 |
dgv10463n54 | CNV | loss | 21841781 |
dgv10472n54 | CNV | loss | 21841781 |
dgv5945n100 | CNV | gain | 25217958 |
esv21985 | CNV | gain+loss | 19812545 |
esv2759416 | CNV | gain+loss | 17122850 |
esv33476 | CNV | gain+loss | 17666407 |
nsv1073969 | CNV | deletion | 25765185 |
nsv1112900 | CNV | deletion | 24896259 |
nsv1126749 | CNV | deletion | 24896259 |
nsv428142 | CNV | gain+loss | 18775914 |
nsv602111 | CNV | loss | 21841781 |
nsv830630 | CNV | loss | 17160897 |
nsv830631 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
graham-little-piccardi-lassueur syndrome |
|
|
heart lymphoma |
|
|
penicillin allergy |
|
|
keshan disease |
|
|
rheumatoid arthritis |
|
|