Q8VEL2
Gene name |
Mtmr14 |
Protein name |
Myotubularin-related protein 14 |
Names |
mJumpy |
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:97287 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q8VEL2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8VEL2-F1 | Predicted | AlphaFoldDB |
25 variants for Q8VEL2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs579019284 | 8 | A>T | No | EVA | |
| rs3396819365 | 54 | E>Q | No | EVA | |
| rs3388849140 | 72 | V>M | No | EVA | |
| rs3388842891 | 77 | N>K | No | EVA | |
| rs3388856892 | 102 | T>P | No | EVA | |
| rs3388813473 | 249 | P>S | No | EVA | |
| rs3388852114 | 280 | L>F | No | EVA | |
| rs3388813499 | 283 | P>T | No | EVA | |
| rs3388842982 | 298 | Q>H | No | EVA | |
| rs3396434507 | 299 | S>C | No | EVA | |
| rs3388856866 | 323 | S>N | No | EVA | |
| rs3388835293 | 353 | I>F | No | EVA | |
| rs3388813512 | 384 | K>I | No | EVA | |
| rs3397082266 | 398 | H>Q | No | EVA | |
| rs3396825774 | 402 | E>* | No | EVA | |
| rs3388846373 | 423 | V>M | No | EVA | |
| rs3388813460 | 429 | L>F | No | EVA | |
| rs3388848927 | 447 | V>I | No | EVA | |
| rs3388829114 | 454 | A>V | No | EVA | |
| rs3388844356 | 456 | G>R | No | EVA | |
| rs3396434559 | 466 | A>V | No | EVA | |
| rs3388850224 | 469 | G>* | No | EVA | |
| rs3388856854 | 470 | A>T | No | EVA | |
| rs3397290978 | 521 | N>K | No | EVA | |
| rs3397290951 | 536 | R>* | No | EVA |
No associated diseases with Q8VEL2
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| ruffle | Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| phosphatidylinositol-3-phosphatase activity | Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 3-phosphate + H2O = 1-phosphatidyl-1D-myo-inositol + phosphate. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| dephosphorylation | The process of removing one or more phosphoric (ester or anhydride) residues from a molecule. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8NCE2 | MTMR14 | Myotubularin-related protein 14 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAGARAAAAA | SAGSTASSGS | PPPQEPGLWE | LLEEFSRTQY | RAKDSGGKSG | SKVERIEKRC |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LELFGRDYCF | SVIPNVNGDI | CGHYPRHIVF | LEYESSEKEK | DTFQSTVQVN | KLQDLIHRSK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| MARCRGRFVC | PVILFKGKHI | CRSATLAGWG | ELYGRSGYNY | LFSGGADDTW | ASTEDVTEED |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FVLRSGDTHL | FDKVRGYDIK | LLQYLSVKYI | CDLMVENKKV | KFGMNVTSSE | KVDKAQRYAN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FTLLSIPYPG | CEFFKEYKDR | DYMAEGLIFN | WKQDYVDAPL | NIPNFLTQSL | NIDWSQYQSW |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DLVQQTQNYL | KLLLFIMNRD | DDSGLLVHCI | SGWDRTPLFI | SLLRLSLWAD | GLIHTSLKPA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EILYLTVAYD | WFLFGHMLVD | RLSKGEEIFF | FCFNFLKHIT | SEEFCLKTQR | RKSLPTRDAG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FTVEDICMLR | HKDRGSTTSL | GSDFSLVLEH | SPGAVGSFSY | ETVELAPAGA | PTQAAWRKSH |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SSSPQSMLWS | RPQPSEERLP | SHHGLTEAKS | SSSSSSNHSD | NFFRMGSSPL | EVPKPRSVDH |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PLPGSSLSTD | FGSWQLVSGC | GSIQDRPVLH | TDSSLPFSFQ | DELPNSCLLT | ALSDRETRLQ |
| 610 | 620 | 630 | 640 | ||
| EVRSAFLAAY | SSTVGLRAAT | PSPSGAIGGL | LEQFARGVGL | RGTSTSTL |