Q9D485
Gene name |
Efhc2 |
Protein name |
EF-hand domain-containing family member C2 |
Names |
|
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:74405 |
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
5 structures for Q9D485
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8I7O | EM | 450 A | G5 | 1-750 | PDB |
| 8I7R | EM | 650 A | G4/G5/G6 | 1-750 | PDB |
| 8IYJ | EM | 350 A | W/X/Y/Z | 1-750 | PDB |
| 8TO0 | EM | 770 A | FS/Fg/Fo/Fv | 1-750 | PDB |
| AF-Q9D485-F1 | Predicted | AlphaFoldDB |
42 variants for Q9D485
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs228707975 | 39 | N>D | No | EVA | |
| rs33784189 | 46 | D>E | No | EVA | |
| rs263423468 | 89 | I>V | No | EVA | |
| rs219004753 | 121 | I>T | No | EVA | |
| rs3389569586 | 127 | Q>K | No | EVA | |
| rs3389555103 | 129 | T>S | No | EVA | |
| rs3409667228 | 137 | P>H | No | EVA | |
| rs1133695489 | 171 | D>A | No | EVA | |
| rs3389566151 | 177 | F>L | No | EVA | |
| rs3389553035 | 184 | K>R | No | EVA | |
| rs3389502245 | 218 | T>I | No | EVA | |
| rs3389553339 | 223 | I>M | No | EVA | |
| rs3389547766 | 237 | D>G | No | EVA | |
| rs3389547806 | 245 | D>H | No | EVA | |
| rs229278316 | 281 | R>W | No | EVA | |
| rs3389557634 | 287 | Y>* | No | EVA | |
| rs3389555061 | 324 | Q>H | No | EVA | |
| rs259079507 | 324 | Q>P | No | EVA | |
| rs218491025 | 331 | D>E | No | EVA | |
| rs3389566174 | 342 | A>T | No | EVA | |
| rs3389547793 | 343 | T>N | No | EVA | |
| rs3389566199 | 358 | E>V | No | EVA | |
| rs3409868752 | 359 | F>Y | No | EVA | |
| rs3409667214 | 362 | T>S | No | EVA | |
| rs3408972229 | 370 | V>I | No | EVA | |
| rs3389520661 | 398 | S>C | No | EVA | |
| rs3409621186 | 413 | P>S | No | EVA | |
| rs244745387 | 416 | K>R | No | EVA | |
| rs3409298051 | 458 | L>P | No | EVA | |
| rs3389557578 | 474 | G>V | No | EVA | |
| rs3389546954 | 475 | N>S | No | EVA | |
| rs3389569569 | 476 | A>D | No | EVA | |
| rs3389557550 | 478 | G>* | No | EVA | |
| rs3389510328 | 479 | M>V | No | EVA | |
| rs219272094 | 481 | L>F | No | EVA | |
| rs33785729 | 550 | Q>R | No | EVA | |
| rs3409627280 | 551 | K>I | No | EVA | |
| rs3389566184 | 565 | V>I | No | EVA | |
| rs234654160 | 613 | D>H | No | EVA | |
| rs3408605373 | 662 | C>Y | No | EVA | |
| rs3407630452 | 691 | E>* | No | EVA | |
| rs3389533730 | 718 | E>* | No | EVA |
No associated diseases with Q9D485
3 regional properties for Q9D485
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | DM10 domain | 69 - 182 | IPR006602-1 |
| domain | DM10 domain | 219 - 368 | IPR006602-2 |
| domain | DM10 domain | 418 - 537 | IPR006602-3 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| axonemal microtubule | A microtubule in the axoneme of a eukaryotic cilium or flagellum; an axoneme contains nine modified doublet microtubules, which may or may not surround a pair of single microtubules. |
| axoneme | The bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. |
| ciliary basal body | A membrane-tethered, short cylindrical array of microtubules and associated proteins found at the base of a eukaryotic cilium (also called flagellum) that is similar in structure to a centriole and derives from it. The cilium basal body is the site of assembly and remodelling of the cilium and serves as a nucleation site for axoneme growth. As well as anchoring the cilium, it is thought to provide a selective gateway regulating the entry of ciliary proteins and vesicles by intraflagellar transport. |
| mitotic spindle | A spindle that forms as part of mitosis. Mitotic and meiotic spindles contain distinctive complements of proteins associated with microtubules. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| alpha-tubulin binding | Binding to the microtubule constituent protein alpha-tubulin. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to leukemia inhibitory factor | 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 leukemia inhibitory factor stimulus. |
| cilium-dependent cell motility | Cell motility due to the motion of one or more eukaryotic cilia. A eukaryotic cilium is a specialized organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. |
| mitotic cytokinesis | A cell cycle process that results in the division of the cytoplasm of a cell after mitosis, resulting in the separation of the original cell into two daughter cells. |
| mitotic spindle organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the microtubule spindle during a mitotic cell cycle. |
| regulation of neuron projection development | Any process that modulates the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q32TG3 | EFHC2 | EF-hand domain-containing family member C2 | Gallus gallus (Chicken) | PR |
| Q5JST6 | EFHC2 | EF-hand domain-containing family member C2 | Homo sapiens (Human) | PR |
| Q32TF8 | efhc2 | EF-hand domain-containing family member C2 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MALPFLPGNS | FNRNIGKERF | HKSQHWGFCN | NVRMLVSENK | PGVGGDLLYG | QKIKPKHSVF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PKGDGTDAPS | WVAFDKQVLS | FDAYLEDEIS | DKRQEIFRIR | YYKIYFYLED | DTIQVNEPEV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| INSGLPQGTS | IRRQRIPYPP | PNDDQFYTVY | DFNINISVVF | YGRTFKIYDC | DPFTKNFLKK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IGIKLNPPGQ | CPLDPYMKMR | RETLEFVDPF | RPYQSFDTLK | RFIQYDGKVL | RFFCLWDDST |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SLFGDRREFV | LHYFLCDGTV | EIREVLPSNS | GRDAMSSFLR | RGKLPKYGPP | GIYQPGQITD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RAVLNVYGGL | SEWRADGYLL | DKYQLGKVEQ | DFYTDQDLSI | GATINVWGRK | VLLCDCDEFT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KTYYRTKYGV | DNFTPISCKP | PHLPKIERKY | PPYTGFGSEE | DSFRSCVGLK | PTPHRKNFKK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FMELDSFGNI | SNILRYFGKL | ITHKCADVDR | IFVIAFYLSD | DTISVFEPIE | NNSGNAGGMF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LKRSRVKKPG | QEVFKSEFSE | YIKAEELYIG | ATVNINGYLF | ILLNADEYTL | NYMENNTDKF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PYSNFELAIQ | KLKQEKSKSR | EITQVFAAAD | YNHTKVVPYN | TFRDILMSIT | MGKLIDQELI |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TIARHYRVPE | IMDPDLAYLI | ARAHEKFKKN | IFENFDMFIY | NCVYEDREKK | GVLPTKDIRR |
| 670 | 680 | 690 | 700 | 710 | 720 |
| MCKSSRLPLD | DDFLDCLLSR | FEDKDHQINY | EIFFSVLNWR | MNPTPDLQAP | PYLKEKCEDV |
| 730 | 740 | ||||
| WVGMPSPIPV | KYVRYLDFLI | DVYGLEDNML |