HLA-DPA1
major histocompatibility complex, class II, DP alpha 1
Summary
HLA-DPA1 belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta (DPB) 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 one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail. Within the DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. [provided by RefSeq, Jul 2008]
Known Variants60 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs8807 | 6:33,032,851 | T/A | — | — |
| rs1042901 | 6:33,032,865 | A/G | — | — |
| rs3077 | 6:33,033,022 | A/G | 3 prime UTR variant | — |
| rs201212911 | 6:33,033,178 | G/T | — | — |
| rs67640541 | 6:33,033,484 | C/G | — | — |
| rs73400009 | 6:33,033,639 | G/A | intron variant | — |
| rs73739621 | 6:33,033,710 | T/C | intron variant | — |
| rs76589166 | 6:33,034,120 | C/T | intron variant | — |
| rs34596699 | 6:33,034,577 | C/A | — | — |
| rs72867701 | 6:33,034,930 | A/G | intron variant | — |
| rs73400034 | 6:33,035,272 | A/C | — | — |
| rs74292032 | 6:33,035,315 | A/G | intron variant | — |
| rs72870107 | 6:33,035,330 | G/A | intron variant | — |
| rs1054025 | 6:33,035,771 | T/A | — | — |
| rs3179778 | 6:33,035,974 | A/G | intron variant | — |
| rs144045930 | 6:33,036,437 | C/T | missense variant | — |
| rs56046206 | 6:33,036,548 | G/A | — | likely benign |
| rs1042178 | 6:33,037,522 | T/C | missense variant | — |
| rs1042177 | 6:33,037,557 | C/T | synonymous variant | — |
| rs2308910 | 6:33,037,587 | T/G | — | likely benign |
| rs9277341 | 6:33,039,625 | T/G | — | — |
| rs4345439 | 6:33,040,098 | C/T | upstream gene variant | — |
| rs6914849 | 6:33,040,715 | G/T | — | — |
| rs9357156 | 6:33,041,073 | A/T | — | — |
| rs2856830 | 6:33,041,734 | T/C | regulatory region variant | — |
| rs142146714 | 6:33,041,911 | A/T | upstream gene variant | — |
| rs987870 | 6:33,042,880 | A/G | regulatory region variant | — |
| rs2071349 | 6:33,043,520 | C/A | — | — |
| rs115910061 | 6:33,044,015 | G/T | regulatory region variant | — |
| rs6457711 | 6:33,045,272 | C/A | upstream gene variant | — |
| rs7750458 | 6:33,045,698 | G/A | upstream gene variant | — |
| rs56934772 | 6:33,045,699 | T/C | upstream gene variant | — |
| rs2073520 | 6:33,045,823 | A/T | — | — |
| rs2073522 | 6:33,045,838 | G/A | upstream gene variant | — |
| rs3135022 | 6:33,045,966 | G/A | upstream gene variant | — |
| rs2021408 | 6:33,046,726 | T/C | upstream gene variant | — |
| rs2856821 | 6:33,046,742 | T/C | upstream gene variant | — |
| rs3097670 | 6:33,046,752 | G/C | upstream gene variant | — |
| rs1431402 | 6:33,046,915 | T/A | upstream gene variant | — |
| rs1431403 | 6:33,047,031 | T/C | upstream gene variant | — |
| rs2856822 | 6:33,047,432 | A/G | coding sequence variant | — |
| rs17221073 | 6:33,048,371 | G/C | regulatory region variant | — |
| rs3128959 | 6:33,048,380 | G/A | regulatory region variant | — |
| rs12722013 | 6:33,048,460 | T/C | missense variant | — |
| rs1126511 | 6:33,048,466 | G/T | stop gained | — |
| rs9277348 | 6:33,048,538 | T/A | missense variant | — |
| rs1042121 | 6:33,048,542 | C/G | missense variant | — |
| rs1042131 | 6:33,048,602 | C/A | missense variant | — |
| rs1042133 | 6:33,048,606 | G/C | missense variant | — |
| rs1042151 | 6:33,048,661 | A/G | missense variant | — |
| rs9277356 | 6:33,048,694 | A/G | missense variant | — |
| rs7770370 | 6:33,048,921 | A/G | downstream gene variant | — |
| rs7770501 | 6:33,048,937 | C/A | — | — |
| rs61406966 | 6:33,049,123 | G/A | downstream gene variant | — |
| rs9501251 | 6:33,049,663 | A/G | downstream gene variant | — |
| rs7772134 | 6:33,049,726 | G/T | downstream gene variant | — |
| rs9277359 | 6:33,050,024 | C/T | — | — |
| rs9277360 | 6:33,050,036 | T/C | downstream gene variant | — |
| rs9277364 | 6:33,050,084 | C/T | downstream gene variant | — |
| rs9277378 | 6:33,050,279 | A/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.