Q8R0S2
SS
Gene name |
Iqsec1 (Kiaa0763) |
Protein name |
IQ motif and SEC7 domain-containing protein 1 |
Names |
|
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:232227 |
EC number |
|
Protein Class |
|
Descriptions
IQ motif and SEC7 domain-containing protein 2 (IQSEC2, also known as BRAG1) is a guanine nucleotide exchange factor (GEF) that is highly enriched in synapses. The autoinhibition of IQSEC2 is mediated by its IQ motif, which binds to apo-CaM and folds together with its Sec7-PH tandem, leading IQSEC2 to adopt a closed conformation in the absence of Ca2+. This autoinhibition is released by calcium binding, which triggers a conformational change that exposes the DH domain for activation.
Autoinhibitory domains (AIDs)
Target domain |
515-862 (Sec7-PH domains) |
Relief mechanism |
Ligand binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q8R0S2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8R0S2-F1 | Predicted | AlphaFoldDB |
42 variants for Q8R0S2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs262246940 | 27 | A>V | No | EVA | |
| rs3388823953 | 39 | P>A | No | EVA | |
| rs3388823941 | 48 | V>I | No | EVA | |
| rs3388847406 | 55 | P>T | No | EVA | |
| rs3388849563 | 62 | S>T | No | EVA | |
| rs3388823920 | 65 | A>T | No | EVA | |
| rs1132087621 | 70 | A>T | No | EVA | |
| rs3388844094 | 114 | D>G | No | EVA | |
| rs3388831446 | 164 | R>C | No | EVA | |
| rs3388844073 | 168 | R>C | No | EVA | |
| rs3397094101 | 177 | Q>R | No | EVA | |
| rs3388843092 | 194 | K>* | No | EVA | |
| rs3388809262 | 213 | C>G | No | EVA | |
| rs3388844020 | 217 | S>N | No | EVA | |
| rs3388844091 | 267 | P>S | No | EVA | |
| rs3388844026 | 277 | T>S | No | EVA | |
| rs3388851136 | 415 | S>N | No | EVA | |
| rs3388845766 | 454 | N>K | No | EVA | |
| rs3388851092 | 491 | D>E | No | EVA | |
| rs3388809188 | 491 | D>E | No | EVA | |
| rs3507826298 | 522 | R>H | No | EVA | |
| rs3388841158 | 642 | R>* | No | EVA | |
| rs3388844032 | 666 | S>R | No | EVA | |
| rs3388839602 | 697 | T>R | No | EVA | |
| rs3388839653 | 731 | K>R | No | EVA | |
| rs3388845817 | 762 | D>E | No | EVA | |
| rs3388843117 | 775 | E>G | No | EVA | |
| rs3388839636 | 777 | F>L | No | EVA | |
| rs3397039243 | 787 | K>E | No | EVA | |
| rs3396619507 | 790 | Q>L | No | EVA | |
| rs3397007376 | 794 | N>I | No | EVA | |
| rs3396625227 | 795 | S>L | No | EVA | |
| rs3388849589 | 832 | A>S | No | EVA | |
| rs3388845272 | 842 | A>V | No | EVA | |
| rs3388851128 | 847 | D>G | No | EVA | |
| rs3388851113 | 863 | Q>K | No | EVA | |
| rs3388843323 | 893 | K>R | No | EVA | |
| rs3397030702 | 901 | S>A | No | EVA | |
| rs3397055479 | 911 | S>ELLRALRLRPSPLA* | No | EVA | |
| rs3388809219 | 922 | S>I | No | EVA | |
| rs3388843256 | 941 | S>* | No | EVA | |
| rs3412115770 | 959 | L>M | No | EVA |
No associated diseases with Q8R0S2
Functions
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| postsynaptic density, intracellular component | A network of proteins adjacent to the postsynaptic membrane forming an electron dense disc. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize neurotransmitter receptors in the adjacent membrane, such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components. |
| Schaffer collateral - CA1 synapse | A synapse between the Schaffer collateral axon of a CA3 pyramidal cell and a CA1 pyramidal cell. |
| synaptic vesicle | A secretory organelle, typically 50 nm in diameter, of presynaptic nerve terminals; accumulates in high concentrations of neurotransmitters and secretes these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| guanyl-nucleotide exchange factor activity | Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions. |
| lipid binding | Binding to a lipid. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| actin cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. |
| dendritic spine development | The process whose specific outcome is the progression of the dendritic spine over time, from its formation to the mature structure. A dendritic spine is a protrusion from a dendrite and a specialized subcellular compartment involved in synaptic transmission. |
| positive regulation of focal adhesion disassembly | Any process that activates or increases the frequency, rate or extent of disaggregation of a focal adhesion into its constituent components. |
| positive regulation of keratinocyte migration | Any process that activates or increases the frequency, rate or extent of keratinocyte migration. |
| positive regulation of synapse assembly | Any process that activates, maintains or increases the frequency, rate or extent of synapse assembly, the aggregation, arrangement and bonding together of a set of components to form a synapse. |
| postsynaptic modulation of chemical synaptic transmission | Any process, acting in the postsynapse that results in modulation of chemical synaptic transmission. |
| regulation of ARF protein signal transduction | Any process that modulates the frequency, rate or extent of ARF protein signal transduction. |
| regulation of postsynaptic neurotransmitter receptor internalization | Any process that modulates the frequency, rate or extent of endocytosis of neurotransmitter receptor at the postsynapse. |
13 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5JU85 | IQSEC2 | IQ motif and SEC7 domain-containing protein 2 | Homo sapiens (Human) | EV |
| Q9UPP2 | IQSEC3 | IQ motif and SEC7 domain-containing protein 3 | Homo sapiens (Human) | SS |
| Q6DN90 | IQSEC1 | IQ motif and SEC7 domain-containing protein 1 | Homo sapiens (Human) | EV |
| A2A5R2 | Arfgef2 | Brefeldin A-inhibited guanine nucleotide-exchange protein 2 | Mus musculus (Mouse) | PR |
| G3X9K3 | Arfgef1 | Brefeldin A-inhibited guanine nucleotide-exchange protein 1 | Mus musculus (Mouse) | PR |
| Q3TES0 | Iqsec3 | IQ motif and SEC7 domain-containing protein 3 | Mus musculus (Mouse) | SS |
| P63034 | Cyth2 | Cytohesin-2 | Mus musculus (Mouse) | SS |
| Q80YW0 | Cyth4 | Cytohesin-4 | Mus musculus (Mouse) | SS |
| O08967 | Cyth3 | Cytohesin-3 | Mus musculus (Mouse) | EV |
| Q9QX11 | Cyth1 | Cytohesin-1 | Mus musculus (Mouse) | SS |
| Q5DU25 | Iqsec2 | IQ motif and SEC7 domain-containing protein 2 | Mus musculus (Mouse) | SS |
| Q76M68 | Iqsec3 | IQ motif and SEC7 domain-containing protein 3 | Rattus norvegicus (Rat) | SS |
| A0A0G2JUG7 | Iqsec1 | IQ motif and SEC7 domain-containing protein 1 | Rattus norvegicus (Rat) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MWCLHCNSER | TQSLLELELD | SGVEGEAPSS | ETGTSLDSPS | AYHQGPLVPG | SSLSPDHYEH |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TSVGAYGLYA | GPGPQQRTRR | PRLQHSTSVL | RKQAEEEAIK | RSRSLSESYE | LSSDLQDKQV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EMLERKYGGR | LVTRHAARTI | QTAFRQYQMN | KNFERLRSSM | SENRMSRRIV | LSNMRMQFSF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EGPEKVHSSY | FEGKQVSVTN | DGSQLGALVP | SECGDLSDPA | LKSPAPSSDF | ADAITELEDA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FSRQVKSLAE | SIDDALNCRS | LHSEEVPASD | TARARDTEPK | PGLHGMDHRK | LDEMTASYSD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VTLYIDEEEL | SPPLPLSQAG | DRPSSTESDL | RLRSGGAAQD | YWALAHKEDK | ADTDTSCRST |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PSLERPEPRL | RVEHLPLLTI | EPPSDSSVEL | SDRSDRSSLK | RQSAYERSLG | GQQGSPKHGP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| HGGPPKGLPR | EEPELRPRPP | RPLESHLAIN | GSANRQSKSE | SDYSDGDNDS | INSTSNSNDT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| INCSSESSSR | DSLREQTLSK | QTYHKETRNS | WDSPAFSNDV | IRKRHYRIGL | NLFNKKPEKG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| IQYLIERGFV | PDTPVGVAHF | LLQRKGLSRQ | MIGEFLGNRQ | KQFNRDVLDC | VVDEMDFSAM |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ELDEALRKFQ | AHIRVQGEAQ | KVERLIEAFS | QRYCVCNPGV | VRQFRNPDTI | FILAFAIILL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| NTDMYSPNVK | PERKMKLEDF | VKNLRGVDDG | EDIPRETLIG | IYERIRKREL | KTNEDHVSQV |
| 730 | 740 | 750 | 760 | 770 | 780 |
| QKVEKLIVGK | KPIGSLHHGL | GCVLSLPHRR | LVCYCRLFEV | PDPNKPQKLG | LHQREIFLFN |
| 790 | 800 | 810 | 820 | 830 | 840 |
| DLLVVTKIFQ | KKKNSVTYSF | RQSFSLYGMQ | VLLFENQYYP | NGIRLTSAVP | GADIKVLINF |
| 850 | 860 | 870 | 880 | 890 | 900 |
| NAPNPQDRKK | FTDDLRESVA | EVQEMEKHRI | ESELEKQKGV | VRPSMSQCSS | LKKESGNGTL |
| 910 | 920 | 930 | 940 | 950 | 960 |
| SRACLDDSYA | SGEGLKRSAL | SSSLRDLSEA | GKRGRRSSAG | SLESNVEFQP | FQPPQPPVLC |
| S |