ANAPC5
anaphase promoting complex subunit 5
Summary
This gene encodes a tetratricopeptide repeat-containing component of the anaphase promoting complex/cyclosome (APC/C), a large E3 ubiquitin ligase that controls cell cycle progression by targeting a number of cell cycle regulators such as B-type cyclins for 26S proteasome-mediated degradation through ubiquitination. The encoded protein is required for the proper ubiquitination function of APC/C and for the interaction of APC/C with transcription coactivators. It also interacts with polyA binding protein and represses internal ribosome entry site-mediated translation. Multiple transcript variants encoding different isoforms have been found for this gene. These differences cause translation initiation at a downstream AUG and result in a shorter protein (isoform b), compared to isoform a. [provided by RefSeq, Nov 2008]
Known Variants25 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2502913065 | 12:121,746,288 | G/C | — | uncertain significance |
| rs936215671 | 12:121,746,353 | C/T | — | uncertain significance |
| rs189845410 | 12:121,747,518 | G/A | — | likely benign |
| rs118176996 | 12:121,756,058 | A/G | intron variant | — |
| rs13141 | 12:121,756,084 | G/A | missense variant | — |
| rs369898477 | 12:121,756,174 | G/A | — | uncertain significance |
| rs569170162 | 12:121,756,195 | C/T | — | uncertain significance |
| rs2547057240 | 12:121,756,322 | T/A | — | uncertain significance |
| rs139334549 | 12:121,758,210 | G/A | — | uncertain significance |
| rs776967113 | 12:121,758,244 | A/G | — | uncertain significance |
| rs782511441 | 12:121,764,906 | G/A | — | uncertain significance |
| rs141045075 | 12:121,764,987 | A/G | — | uncertain significance |
| rs781870840 | 12:121,764,988 | G/C | — | uncertain significance |
| rs1055013633 | 12:121,768,400 | G/A | — | uncertain significance |
| rs114635317 | 12:121,768,411 | T/C | — | likely benign |
| rs1593590904 | 12:121,769,176 | C/T | — | uncertain significance |
| rs782125510 | 12:121,769,178 | T/C | — | uncertain significance |
| rs2547067068 | 12:121,769,196 | C/T | — | uncertain significance |
| rs2547074175 | 12:121,779,805 | C/T | — | uncertain significance |
| rs116961756 | 12:121,781,489 | T/A | intron variant | — |
| rs1555274616 | 12:121,783,688 | C/T | — | uncertain significance |
| rs369565783 | 12:121,783,715 | C/T | — | uncertain significance |
| rs183687286 | 12:121,783,724 | C/T | — | uncertain significance |
| rs782378980 | 12:121,785,648 | T/C | — | uncertain significance |
| rs147306166 | 12:121,789,986 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.