P56695
PR
Gene name |
Wfs1 |
Protein name |
Wolframin |
Names |
|
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:22393 |
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 P56695
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P56695-F1 | Predicted | AlphaFoldDB |
48 variants for P56695
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs224433281 | 64 | P>S | No | EVA | |
| rs262617419 | 68 | Q>H | No | EVA | |
| rs242805655 | 72 | R>W | No | EVA | |
| rs3388758126 | 104 | Q>R | No | EVA | |
| rs3388750348 | 115 | A>V | No | EVA | |
| rs3388750341 | 148 | R>L | No | EVA | |
| rs864257608 | 187 | K>Q | No | EVA | |
| rs3388742917 | 203 | E>V | No | EVA | |
| rs3388742933 | 204 | N>S | No | EVA | |
| rs218711493 | 220 | V>I | No | EVA | |
| rs264966096 | 269 | E>D | No | EVA | |
| rs3395073864 | 284 | L>* | No | EVA | |
| rs3395541340 | 284 | L>M | No | EVA | |
| rs3388763908 | 303 | E>* | No | EVA | |
| rs3388758722 | 323 | T>I | No | EVA | |
| rs3388763901 | 332 | F>I | No | EVA | |
| rs3388750316 | 336 | S>T | No | EVA | |
| rs3388763957 | 369 | D>Y | No | EVA | |
| rs3388752165 | 373 | W>* | No | EVA | |
| rs3388759248 | 385 | R>L | No | EVA | |
| rs3388758801 | 387 | E>K | No | EVA | |
| rs3395396838 | 401 | W>L | No | EVA | |
| rs3394802448 | 401 | W>R | No | EVA | |
| rs3388758772 | 428 | C>Y | No | EVA | |
| rs3388759235 | 442 | T>M | No | EVA | |
| rs3395212845 | 448 | S>R | No | EVA | |
| rs3388742887 | 451 | S>N | No | EVA | |
| rs3395451751 | 451 | S>R | No | EVA | |
| rs3388730480 | 504 | S>N | No | EVA | |
| rs3388750286 | 526 | F>I | No | EVA | |
| rs3388762730 | 547 | V>M | No | EVA | |
| rs252575448 | 608 | V>I | No | EVA | |
| rs3388742899 | 617 | K>N | No | EVA | |
| rs3388747343 | 651 | F>Y | No | EVA | |
| rs3388742884 | 654 | Y>N | No | EVA | |
| rs3388740069 | 665 | T>R | No | EVA | |
| rs3388750357 | 691 | L>P | No | EVA | |
| rs3388752192 | 718 | A>V | No | EVA | |
| rs3388758083 | 764 | K>* | No | EVA | |
| rs3388759255 | 774 | R>S | No | EVA | |
| rs3388742936 | 800 | K>R | No | EVA | |
| rs3395376566 | 843 | K>R | No | EVA | |
| rs3388763928 | 852 | T>R | No | EVA | |
| rs3388730498 | 853 | Q>H | No | EVA | |
| rs3388757501 | 856 | P>S | No | EVA | |
| rs3388758766 | 877 | F>S | No | EVA | |
| rs3388759213 | 881 | F>I | No | EVA | |
| rs3388747313 | 883 | F>L | No | EVA |
No associated diseases with P56695
5 regional properties for P56695
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Wolframin, cysteine-rich domain | 668 - 771 | IPR045400 |
| repeat | Wolframin, Sel1-like repeat | 100 - 134 | IPR045458-1 |
| repeat | Wolframin, Sel1-like repeat | 138 - 176 | IPR045458-2 |
| domain | Wolframin, EF-hand domain | 177 - 256 | IPR045460 |
| domain | Wolframin, OB-fold domain | 772 - 889 | IPR045461 |
Functions
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| integral component of endoplasmic reticulum membrane | The component of the endoplasmic reticulum membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| integral component of synaptic vesicle membrane | The component of the synaptic vesicle membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| secretory granule | A small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. Secretory granules move towards the periphery of the cell and upon stimulation, their membranes fuse with the cell membrane, and their protein load is exteriorized. Processing of the contained protein may take place in secretory granules. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATPase binding | Binding to an ATPase, any enzyme that catalyzes the hydrolysis of ATP. |
| calcium-dependent protein binding | Binding to a protein or protein complex in the presence of calcium. |
| calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
| DNA-binding transcription factor binding | Binding to a DNA-binding transcription factor, a protein that interacts with a specific DNA sequence (sometimes referred to as a motif) within the regulatory region of a gene to modulate transcription. |
| proteasome binding | Binding to a proteasome, a large multisubunit protein complex that catalyzes protein degradation. |
| ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
28 GO annotations of biological process
| Name | Definition |
|---|---|
| calcium ion homeostasis | Any process involved in the maintenance of an internal steady state of calcium ions within an organism or cell. |
| endoplasmic reticulum calcium ion homeostasis | Any process involved in the maintenance of an internal steady state of calcium ions within the endoplasmic reticulum of a cell or between the endoplasmic reticulum and its surroundings. |
| endoplasmic reticulum unfolded protein response | The series of molecular signals generated as a consequence of the presence of unfolded proteins in the endoplasmic reticulum (ER) or other ER-related stress; results in changes in the regulation of transcription and translation. |
| glucose homeostasis | Any process involved in the maintenance of an internal steady state of glucose within an organism or cell. |
| kidney development | The process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and/or excretes the end products of body metabolism in the form of urine. |
| negative regulation of apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
| negative regulation of ATF6-mediated unfolded protein response | Any process that stops, prevents or reduces the frequency, rate or extent of the ATF6-mediated unfolded protein response. |
| negative regulation of DNA-binding transcription factor activity | Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription. |
| negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway | Any process that stops, prevents or reduces the frequency, rate or extent of an endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway. |
| negative regulation of neuron apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process in neurons. |
| negative regulation of programmed cell death | Any process that stops, prevents, or reduces the frequency, rate or extent of programmed cell death, cell death resulting from activation of endogenous cellular processes. |
| negative regulation of response to endoplasmic reticulum stress | Any process that stops, prevents or reduces the frequency, rate or extent of a response to endoplasmic reticulum stress. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| negative regulation of type B pancreatic cell apoptotic process | Any process that stops, prevents or reduces the frequency, rate or extent of type B pancreatic cell apoptotic process. |
| nervous system process | A organ system process carried out by any of the organs or tissues of neurological system. |
| olfactory behavior | The behavior of an organism in response to an odor. |
| pancreas development | The process whose specific outcome is the progression of the pancreas over time, from its formation to the mature structure. The pancreas is an endoderm derived structure that produces precursors of digestive enzymes and blood glucose regulating enzymes. |
| positive regulation of calcium ion transport | Any process that activates or increases the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| positive regulation of growth | Any process that activates or increases the rate or extent of growth, the increase in size or mass of all or part of an organism. |
| positive regulation of protein metabolic process | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a protein. |
| positive regulation of protein ubiquitination | Any process that activates or increases the frequency, rate or extent of the addition of ubiquitin groups to a protein. |
| protein stabilization | Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation. |
| regulation of cell cycle | Any process that modulates the rate or extent of progression through the cell cycle. |
| renal water homeostasis | Renal process involved in the maintenance of an internal steady state of water in the body. |
| response to endoplasmic reticulum stress | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stress acting at the endoplasmic reticulum. ER stress usually results from the accumulation of unfolded or misfolded proteins in the ER lumen. |
| sensory perception of sound | The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound. |
| ubiquitin-dependent ERAD pathway | The series of steps necessary to target endoplasmic reticulum (ER)-resident proteins for degradation by the cytoplasmic proteasome. Begins with recognition of the ER-resident protein, includes retrotranslocation (dislocation) of the protein from the ER to the cytosol, protein ubiquitination necessary for correct substrate transfer, transport of the protein to the proteasome, and ends with degradation of the protein by the cytoplasmic proteasome. |
| visual perception | The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNSGTPPPSP | SGPPPPPAPQ | PQARARLNAT | ASLEQDKIEP | PRAPRPQADP | SAGRSAGEAA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| APEPRAPQTG | SREETDRAGP | MKADVEIPFE | EVLEKAKAGD | PKAQTEVGKH | YLRLANDADE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ELNSCSAVAW | LILAAKQGRR | EAVKLLRRCL | ADRKGITSEN | EAEVKQLSSE | TDLERAVRKA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ALVMYWKLNP | KKKKQVAVSE | LLENVGQVNE | QDGGAQPGPV | PKSLQKQRRM | LERLVSSESK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NYIALDDFVE | LTKKYAKGII | PTNLFLQDED | EDEDELAGKS | PEDLPLRQKV | VKYPLHAIME |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IKEYLIDVAS | KAGMHWLSTI | VPTHHINALI | FFFIISNLTI | DFFAFFIPLV | VFYLSFVSMV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ICTLKVFQDS | KAWENFRTLT | DLLLRFEPNL | DVEQAEVNFG | WNHLEPYIHF | LLSVVFVIFS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FPLASKDCIP | CSELAVISTF | FTVTSYMSLS | SSAEPYTRRA | LVTEVAAGLL | SLLPTVPVDW |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RFLKVLGQTF | FTVPVGHFII | LNVSLPCLLY | VYLFYLFFRM | AQLRNFKGTY | CYLVPYLVCF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| MWCELSVVIL | LQSTGLGLVR | ASIGYFLFLF | ALPILVAGLA | LMGTVQFARW | FLSLDLTKIM |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VTTVICGVPL | LFRWWTKANF | SVMGMVKSLT | KSSMVKLILV | WLTAILLFCW | FYVYRSEGMK |
| 670 | 680 | 690 | 700 | 710 | 720 |
| VYNSTLTWQQ | YGFLCGPRAW | KETNMARTQI | LCSHLEGHRV | TWTGRFKYVR | VTEIDNSAES |
| 730 | 740 | 750 | 760 | 770 | 780 |
| AINMLPFFLG | DWMRCLYGEA | YPSCSSGNTS | TAEEELCRLK | QLAKHPCHIK | KFDRYKFEIT |
| 790 | 800 | 810 | 820 | 830 | 840 |
| VGMPFGTNGN | RGHEEDDITK | DIVLRASSEF | KDVLLNLRQG | SLIEFSTILE | GRLGSKWPVF |
| 850 | 860 | 870 | 880 | ||
| ELKAISCLNC | MTQLSPARRH | VKIEQDWRST | VHGALKFAFD | FFFFPFLSAA |