Descriptions
The tumor suppressor gene Nf2 encodes the protein 4.1, Ezrin, Radixin, Moesin (FERM) domain-containing protein Merlin. The tumor suppressor Merlin/NF2 functions upstream of the core Hippo pathway kinases Lats1/2 and Mst1/2, as well as the nuclear E3 ubiquitin ligase CRL4.
Merlin’s autoinhibitory tail physically blocks the Lats1/2-binding site on the Merlin FERM domain. Angiomotin binding releases this autoinhibition, promoting Merlin’s binding to Lats1/2, leading to activation of Hippo pathway kinases.
Autoinhibitory domains (AIDs)
Target domain |
22-311 (FERM domain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
0 structures for A0A8V0WZJ7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|
18 variants for A0A8V0WZJ7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs738710918 | 10 | S>R | No | EVA | |
| rs314081898 | 50 | V>G | No | EVA | |
| rs735358389 | 93 | T>P | No | EVA | |
| rs737858478 | 199 | A>V | No | EVA | |
| rs740646950 | 200 | R>G | No | EVA | |
| rs737413529 | 200 | R>I | No | EVA | |
| rs740251832 | 304 | H>N | No | EVA | |
| rs740879806 | 363 | L>* | No | EVA | |
| rs317460495 | 382 | D>G | No | EVA | |
| rs731758027 | 421 | E>G | No | EVA | |
| rs739263669 | 425 | L>V | No | EVA | |
| rs314952775 | 450 | E>G | No | EVA | |
| rs316690887 | 462 | R>* | No | EVA | |
| rs15784822 | 473 | L>F | No | EVA | |
| rs15784823 | 473 | L>V | No | EVA | |
| rs734637411 | 517 | L>R | No | EVA | |
| rs733310928 | 522 | E>G | No | EVA | |
| rs734044714 | 547 | E>G | No | EVA |
No associated diseases with A0A8V0WZJ7
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAGAIASRMS | FSSLKRKQPK | TFTVRIVTMD | AEMEFSCEVK | WKGKDLFDLV | CRTLGLRETW |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FFGLQYTIKD | TVAWLKMDKK | VLDHDVPTEE | PVTFHFLAKF | YPENAEEELV | QEITQHLFFL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QVKKQILDEK | IYCPPEASVL | LASYAVQAKY | GDYDPNVHKR | GFLAQEELLP | KRVINLYQMT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PEMWEERITA | WYAEHRGRAR | DEAEMEYLKI | AQDLEMYGVN | YFAIRNKKGT | ELLLGVDALG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LHIYDPDNRL | TPKISFPWNE | IRNISYSDKE | FTIKPLDKKI | DVFKFNSSKL | RVNKLILQLC |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IGNHDLFMRR | RKADSLEVQQ | MKAQAREEKA | RKQMERQRLA | REKQMREEAE | RTRDELERRL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| MQLKEEATMA | NEALMRSEET | ADLLAEKAQI | TEEEAKLLAQ | KAAEAEQEMQ | RIKATAIRTE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EEKRLMEQKV | LEAEMLALKM | AEESERRAKE | ADQLKQDLQE | ARESERRAKQ | KLLEITSKSS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| YTSMNSSTTA | LPTDLPSFNL | ISESLSFDFK | DTDMKRLSME | IEKEKVEYME | KSKHLQEQLN |
| 550 | 560 | 570 | 580 | 590 | |
| ELKTEIEALK | LKERETALDI | LHNENASRGN | SKHNTIKKLT | LQSTKSRVAF | FEEL |