ATAT1
alpha tubulin acetyltransferase 1
Summary
This gene encodes a protein that localizes to clathrin-coated pits, where it acetylates alpha tubulin on lysine 40. This process may be important in microtubule growth, for instance during chemotaxis and the formation of cilium. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Known Variants13 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs9262126 | 6:30,596,421 | G/A | downstream gene variant | — |
| rs9262130 | 6:30,603,519 | G/A | downstream gene variant | — |
| rs34890315 | 6:30,603,875 | T/C | downstream gene variant | — |
| rs1561922033 | 6:30,608,182 | T/G | — | uncertain significance |
| rs1160345970 | 6:30,608,197 | A/G | — | uncertain significance |
| rs530608572 | 6:30,608,336 | C/A | — | uncertain significance |
| rs748992480 | 6:30,608,342 | G/A | — | uncertain significance |
| rs770985147 | 6:30,610,619 | C/A | — | uncertain significance |
| rs200285884 | 6:30,610,625 | C/T | — | uncertain significance |
| rs753561488 | 6:30,610,629 | C/T | — | uncertain significance |
| rs371107713 | 6:30,610,668 | G/A | — | uncertain significance |
| rs760636161 | 6:30,610,730 | G/A | — | uncertain significance |
| rs141966736 | 6:30,610,776 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.