AMBRA1
autophagy and beclin 1 regulator 1
Summary
Enables enzyme binding activity; protein phosphatase activator activity; and ubiquitin-like ligase-substrate adaptor activity. Involved in several processes, including macroautophagy; positive regulation of free ubiquitin chain polymerization; and positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction. Located in cytosol. Part of Cul4-RING E3 ubiquitin ligase complex. Is active in cytoskeleton; mitochondrion; and nucleus. Biomarker of multiple system atrophy. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants82 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs773330938 | 11:46,419,023 | T/C | — | uncertain significance |
| rs143178975 | 11:46,419,043 | C/G | — | uncertain significance |
| rs749521467 | 11:46,419,076 | T/C | — | likely benign |
| rs764361329 | 11:46,419,097 | G/T | — | uncertain significance |
| rs1440849027 | 11:46,419,140 | G/A | — | uncertain significance |
| rs142425575 | 11:46,419,212 | G/A | — | uncertain significance |
| rs370167428 | 11:46,419,259 | C/T | — | uncertain significance |
| rs1209472847 | 11:46,419,280 | G/A | — | uncertain significance |
| rs367760647 | 11:46,419,323 | A/C | — | uncertain significance |
| rs2496706300 | 11:46,419,439 | C/T | — | uncertain significance |
| rs139896964 | 11:46,419,457 | G/A | — | uncertain significance |
| rs145428746 | 11:46,419,493 | C/T | — | uncertain significance |
| rs142646271 | 11:46,426,990 | C/T | intron variant | — |
| rs746646452 | 11:46,430,180 | C/T | — | likely benign |
| rs746864991 | 11:46,431,832 | C/T | — | uncertain significance |
| rs780727462 | 11:46,431,847 | C/G | — | uncertain significance |
| rs747650808 | 11:46,431,860 | C/T | — | uncertain significance |
| rs2496786414 | 11:46,431,871 | G/A | — | uncertain significance |
| rs1307421514 | 11:46,431,899 | C/T | — | uncertain significance |
| rs776724460 | 11:46,431,907 | G/A | — | uncertain significance |
| rs145582910 | 11:46,439,586 | A/G | — | uncertain significance |
| rs370651158 | 11:46,439,590 | C/T | — | uncertain significance |
| rs7119921 | 11:46,449,683 | A/T | downstream gene variant | — |
| rs2496942162 | 11:46,455,049 | G/A | — | uncertain significance |
| rs761423550 | 11:46,455,080 | T/C | — | uncertain significance |
| rs1394025581 | 11:46,455,089 | T/C | — | uncertain significance |
| rs143074080 | 11:46,455,146 | T/C | — | uncertain significance |
| rs80098617 | 11:46,456,439 | G/C | — | benign |
| rs1482583665 | 11:46,456,474 | G/A | — | uncertain significance |
| rs377069728 | 11:46,456,582 | C/T | — | uncertain significance |
| rs61882708 | 11:46,471,039 | G/A | downstream gene variant | — |
| rs61882711 | 11:46,479,480 | C/T | regulatory region variant | — |
| rs55750336 | 11:46,500,528 | C/A | — | — |
| rs7112229 | 11:46,513,249 | C/T | regulatory region variant | — |
| rs1950539302 | 11:46,515,181 | G/A | — | uncertain significance |
| rs1421501772 | 11:46,515,710 | C/A | — | uncertain significance |
| rs147544015 | 11:46,515,749 | T/C | — | likely benign |
| rs768971927 | 11:46,515,751 | G/C | — | uncertain significance |
| rs139858656 | 11:46,529,763 | C/T | — | uncertain significance |
| rs774527865 | 11:46,529,826 | G/A | — | uncertain significance |
| rs1377049396 | 11:46,529,840 | C/T | — | uncertain significance |
| rs61882716 | 11:46,531,807 | A/C | — | — |
| rs2497373638 | 11:46,534,291 | G/T | — | uncertain significance |
| rs61882743 | 11:46,548,754 | C/G | intron variant | — |
| rs756343 | 11:46,550,276 | C/T | — | — |
| rs758863111 | 11:46,563,516 | G/A | — | uncertain significance |
| rs2497575059 | 11:46,563,517 | A/T | — | uncertain significance |
| rs758487984 | 11:46,563,648 | G/A | — | uncertain significance |
| rs765442843 | 11:46,563,723 | T/G | — | uncertain significance |
| rs763230511 | 11:46,563,729 | C/T | — | uncertain significance |
| rs755464260 | 11:46,563,744 | C/G | — | uncertain significance |
| rs2497577562 | 11:46,563,751 | A/C | — | uncertain significance |
| rs768334358 | 11:46,563,820 | G/A | — | uncertain significance |
| rs756709203 | 11:46,563,882 | C/T | — | uncertain significance |
| rs757836617 | 11:46,563,903 | T/G | — | uncertain significance |
| rs1457144643 | 11:46,563,913 | G/A | — | uncertain significance |
| rs754189496 | 11:46,563,994 | G/A | — | uncertain significance |
| rs2864836 | 11:46,564,091 | C/T | — | benign |
| rs768845209 | 11:46,564,096 | T/A | — | uncertain significance |
| rs200296421 | 11:46,564,149 | G/A | — | uncertain significance |
| rs749140064 | 11:46,564,179 | T/A | — | uncertain significance |
| rs2497582477 | 11:46,564,185 | G/A | — | uncertain significance |
| rs139222125 | 11:46,564,236 | G/A | — | uncertain significance |
| rs1200724497 | 11:46,564,258 | G/A | — | uncertain significance |
| rs77450193 | 11:46,564,265 | G/C | — | benign |
| rs200936140 | 11:46,564,282 | G/A | — | uncertain significance |
| rs1267692419 | 11:46,564,386 | G/C | — | uncertain significance |
| rs958703115 | 11:46,564,416 | C/T | — | uncertain significance |
| rs768184871 | 11:46,564,477 | G/A | — | uncertain significance |
| rs370668853 | 11:46,564,491 | T/C | — | uncertain significance |
| rs149370911 | 11:46,564,495 | T/C | — | likely benign |
| rs2497590860 | 11:46,564,905 | G/T | — | uncertain significance |
| rs550412246 | 11:46,567,232 | T/C | — | uncertain significance |
| rs377436639 | 11:46,567,233 | T/C | — | uncertain significance |
| rs1565279367 | 11:46,567,274 | G/A | — | uncertain significance |
| rs755923534 | 11:46,567,292 | T/C | — | uncertain significance |
| rs2042852456 | 11:46,568,757 | C/T | — | uncertain significance |
| rs1328894371 | 11:46,568,802 | G/A | — | uncertain significance |
| rs773072415 | 11:46,569,851 | C/T | — | uncertain significance |
| rs1463453514 | 11:46,569,864 | T/C | — | uncertain significance |
| rs1451283340 | 11:46,569,899 | C/T | — | uncertain significance |
| rs35327580 | 11:46,605,817 | A/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.