Q80Y83
Gene name |
Dixdc1 (Ccd1, Kiaa1735) |
Protein name |
Dixin |
Names |
Coiled-coil protein DIX1, Coiled-coil-DIX1, DIX domain-containing protein 1 |
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:330938 |
EC number |
|
Protein Class |
SEGMENT POLARITY PROTEIN DISHEVELLED (PTHR10878) |
Descriptions
Coiled-coil protein DIX1 (Ccd1, Dixin) is an important positive regulator activating the canonical Wnt signaling pathway. The DIX domain of Ccd1 functions as a switching hub in the Wnt pathway via dynamic polymerization. Homopolymerization of the DIX domain is regulated by insertion of loop β1-β2 of the DIX domain into the head-to-tail interface, preventing the formation of head-to-tail helical filaments and consequently inhibiting its transcriptional activity. The autoinhibition of Ccd1 is relieved by co-expression of Dvl, binding to DISC1, and Cdk25- or MARK1/4-mediated phosphorylation.
Autoinhibitory domains (AIDs)
Target domain |
676-685 (β3-β4 loop) |
Relief mechanism |
Partner binding, PTM |
Assay |
Structural analysis, Mutagenesis experiment |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for Q80Y83
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5Y3B | X-ray | 300 A | A/B/C/D/E/F/G | 625-707 | PDB |
| AF-Q80Y83-F1 | Predicted | AlphaFoldDB |
43 variants for Q80Y83
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs3389018044 | 28 | A>S | No | EVA | |
| rs3389044345 | 32 | A>S | No | EVA | |
| rs3389047255 | 35 | K>E | No | EVA | |
| rs3389038225 | 47 | R>G | No | EVA | |
| rs3388992918 | 48 | Q>H | No | EVA | |
| rs3389010992 | 64 | G>D | No | EVA | |
| rs3389038201 | 66 | L>* | No | EVA | |
| rs3389038244 | 82 | L>V | No | EVA | |
| rs3389044079 | 118 | V>M | No | EVA | |
| rs3389038186 | 170 | V>M | No | EVA | |
| rs3389040766 | 192 | V>A | No | EVA | |
| rs3400142691 | 214 | D>G | No | EVA | |
| rs32752773 | 249 | P>S | No | EVA | |
| rs32752771 | 278 | I>T | No | EVA | |
| rs252717702 | 285 | P>T | No | EVA | |
| rs235356456 | 289 | S>L | No | EVA | |
| rs256399219 | 298 | R>P | No | EVA | |
| rs3389036714 | 326 | K>E | No | EVA | |
| rs3389044138 | 340 | L>M | No | EVA | |
| rs3389024459 | 348 | P>S | No | EVA | |
| rs3389041397 | 358 | P>L | No | EVA | |
| rs3389051442 | 358 | P>S | No | EVA | |
| rs3389036766 | 359 | E>* | No | EVA | |
| rs3400126372 | 405 | T>P | No | EVA | |
| rs3389051422 | 436 | Q>* | No | EVA | |
| rs3411207346 | 437 | R>* | No | EVA | |
| rs3389044084 | 437 | R>M | No | EVA | |
| rs29887554 | 513 | S>N | No | EVA | |
| rs3389031688 | 514 | S>A | No | EVA | |
| rs233226255 | 516 | R>H | No | EVA | |
| rs215326694 | 524 | A>T | No | EVA | |
| rs3389041395 | 532 | T>A | No | EVA | |
| rs3547297668 | 545 | R>Q | No | EVA | |
| rs3389036743 | 576 | M>L | No | EVA | |
| rs47690621 | 624 | V>I | No | EVA | |
| rs3400061431 | 625 | S>R | No | EVA | |
| rs3400238435 | 627 | T>LVQVLLTAGELWE* | No | EVA | |
| rs3389050625 | 628 | C>S | No | EVA | |
| rs3389040733 | 645 | N>D | No | EVA | |
| rs3389038189 | 650 | L>S | No | EVA | |
| rs3389024441 | 657 | D>E | No | EVA | |
| rs3389023013 | 663 | D>N | No | EVA | |
| rs3389044336 | 711 | N>K | No | EVA |
No associated diseases with Q80Y83
No regional properties for Q80Y83
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q80Y83 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR10878 | SEGMENT POLARITY PROTEIN DISHEVELLED |
| PANTHER Subfamily | PTHR10878:SF22 | DIXIN |
| PANTHER Protein Class | scaffold/adaptor protein | |
| PANTHER Pathway Category | No pathway information available | |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon terminus | Terminal inflated portion of the axon, containing the specialized apparatus necessary to release neurotransmitters. The axon terminus is considered to be the whole region of thickening and the terminal button is a specialized region of it. |
| 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. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| neuronal cell body | The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
| gamma-tubulin binding | Binding to the microtubule constituent protein gamma-tubulin. |
| mitogen-activated protein kinase kinase kinase binding | Binding to a mitogen-activated protein kinase kinase kinase, a protein that can phosphorylate a MAP kinase kinase. |
| protein domain specific binding | Binding to a specific domain of a protein. |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| canonical Wnt signaling pathway | The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. In this pathway, the activated receptor signals via downstream effectors that result in the inhibition of beta-catenin phosphorylation, thereby preventing degradation of beta-catenin. Stabilized beta-catenin can then accumulate and travel to the nucleus to trigger changes in transcription of target genes. |
| cell proliferation in forebrain | The creation of greater cell numbers in the forebrain due to cell division of progenitor cells. |
| cerebellar cortex development | The process whose specific outcome is the progression of the cerebellar cortex over time, from its formation to the mature structure. The cerebellar cortex is a thin mantle of gray matter that covers the surface of each cerebral hemisphere. It has a characteristic morphology with convolutions (gyri) and crevices (sulci) that have specific functions. Six layers of nerve cells and the nerve pathways that connect them comprise the cerebellar cortex. Together, these regions are responsible for the processes of conscious thought, perception, emotion and memory as well as advanced motor function. |
| cerebral cortex cell migration | The orderly movement of cells from one site to another in the cerebral cortex. |
| cerebral cortex radially oriented cell migration | The migration of cells in the developing cerebral cortex in which cells move from the ventricular and/or subventricular zone toward the surface of the brain. |
| forebrain ventricular zone progenitor cell division | The mitotic division of a basal progenitor giving rise to two neurons. |
| negative regulation of neuron differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of neuron differentiation. |
| positive regulation of axonogenesis | Any process that activates or increases the frequency, rate or extent of axonogenesis. |
| positive regulation of JNK cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the JNK cascade. |
| positive regulation of Wnt signaling pathway | Any process that activates or increases the frequency, rate or extent of Wnt signal transduction. |
| regulation of actin cytoskeleton organization | Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. |
| regulation of microtubule cytoskeleton organization | Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLACLTRGNL | LDVLQEGFNE | QQLQAYVAWV | NAQLKKRPSV | KPVQDLRQDL | RDGVILAYLI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EIVGQLALDS | DASVDERTDF | FLLHSPFKAA | GEKLTGVQLS | PSNQQEMKSN | VERVLQFVAS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KKIRMHQTSA | KDIVEGNLKS | IMRLVLALAA | HFKPGSSRTV | SQGRDSKAPV | QSHQPHCATA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VAQGAAAALA | DVCHDVSRSG | RDVFRYRQRN | ASVDGEIENP | YWSVRALVQQ | YEGQQKSPSE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SSCSSLTSPS | PIHSAKSESI | ITQAEEKADF | VIIPSEGIEN | RTDEPDSPSS | RDWRPGSRGT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YLEATWEEQL | LEQQEHLEKE | MEEAKKMISG | LQALLLNGSL | PEDEQERPVA | LCEPGVNPEE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QLIIIRSRLD | QSVEENQDLK | KELLKCKQEA | RNLQGIKDAL | QQRLTQQDTS | VLQLKQELLR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ANMDKDELHN | QNVDLQRKLE | ERNRLLGEYK | KELGQKDRLF | QQQQAKLEEA | LRKLSDASYQ |
| 490 | 500 | 510 | 520 | 530 | 540 |
| QVDLERELEQ | KDVLLAHCMK | GETDEVTNYN | SHSSQRNGFV | LPVAGRGATT | VTHRGPQTSD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LQLVRDALRS | LRNSFSGHDP | QHHTIDSLEQ | GISSLMERLH | VVETQKKQER | KVGGRSPRNQ |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ASSEYRASWP | PNSTLPHSQS | SPAVSSTCTK | VLYFTDRSLT | PFMVNIPKRL | GEVTLKDFKA |
| 670 | 680 | 690 | 700 | 710 | |
| AIDREGNHRY | HFKALDPEFG | TVKEEVFHDD | DAIPGWEGKI | VAWVEEDHRE | N |