HRH1
histamine receptor H1
Summary
Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine receptors H1, H2, H3 and H4. The protein encoded by this gene is an integral membrane protein and belongs to the G protein-coupled receptor superfamily. It mediates the contraction of smooth muscles, the increase in capillary permeability due to contraction of terminal venules, the release of catecholamine from adrenal medulla, and neurotransmission in the central nervous system. It has been associated with multiple processes, including memory and learning, circadian rhythm, and thermoregulation. It is also known to contribute to the pathophysiology of allergic diseases such as atopic dermatitis, asthma, anaphylaxis and allergic rhinitis. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2015]
Known Variants21 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs67587776 | 3:11,185,316 | C/A | regulatory region variant | — |
| rs60389827 | 3:11,202,299 | T/C | intron variant | — |
| rs4684059 | 3:11,232,779 | G/T | — | — |
| rs347623 | 3:11,239,748 | G/C | intron variant | — |
| rs35932350 | 3:11,244,120 | A/C | — | — |
| rs347594 | 3:11,249,528 | C/G | — | — |
| rs530071997 | 3:11,271,366 | A/G | — | — |
| rs347591 | 3:11,290,122 | G/C | — | — |
| rs79314450 | 3:11,300,765 | G/A | — | benign |
| rs2067466 | 3:11,300,780 | G/C | — | benign |
| rs2470055448 | 3:11,300,788 | T/C | — | uncertain significance |
| rs2470055637 | 3:11,300,886 | G/A | — | uncertain significance |
| rs2470055731 | 3:11,300,937 | G/A | — | uncertain significance |
| rs2470055796 | 3:11,300,965 | T/C | — | uncertain significance |
| rs2470056323 | 3:11,301,304 | C/G | — | uncertain significance |
| rs761114504 | 3:11,301,393 | C/T | — | uncertain significance |
| rs7651620 | 3:11,301,532 | G/A | missense variant | — |
| rs74840800 | 3:11,301,700 | G/A | — | benign |
| rs189287776 | 3:11,301,768 | G/C | — | benign |
| rs752760430 | 3:11,301,790 | A/G | — | uncertain significance |
| rs772035847 | 3:11,302,060 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.