Q99J31
PR
Gene name |
Ophn1 |
Protein name |
Oligophrenin-1 |
Names |
|
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:94190 |
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 Q99J31
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q99J31-F1 | Predicted | AlphaFoldDB |
49 variants for Q99J31
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs3389536081 | 4 | P>S | No | EVA | |
| rs3389526829 | 23 | K>N | No | EVA | |
| rs3389548744 | 28 | E>G | No | EVA | |
| rs3389569264 | 34 | K>E | No | EVA | |
| rs3411363173 | 44 | S>I | No | EVA | |
| rs3411363238 | 44 | S>R | No | EVA | |
| rs3389569265 | 50 | M>T | No | EVA | |
| rs3411509606 | 69 | F>L | No | EVA | |
| rs3411283672 | 91 | A>S | No | EVA | |
| rs3389570166 | 118 | T>N | No | EVA | |
| rs3389580171 | 119 | F>V | No | EVA | |
| rs3411358732 | 145 | L>Q | No | EVA | |
| rs3411238900 | 235 | T>S | No | EVA | |
| rs3408762807 | 241 | S>I | No | EVA | |
| rs3389572731 | 274 | T>I | No | EVA | |
| rs3411282458 | 284 | W>R | No | EVA | |
| rs3389567906 | 285 | A>E | No | EVA | |
| rs265618225 | 290 | R>Q | No | EVA | |
| rs3389580189 | 314 | V>* | No | EVA | |
| rs3389477416 | 315 | D>E | No | EVA | |
| rs3389561342 | 317 | T>A | No | EVA | |
| rs3389477422 | 337 | I>M | No | EVA | |
| rs3389517826 | 342 | R>I | No | EVA | |
| rs3389517791 | 380 | M>I | No | EVA | |
| rs3389517840 | 400 | K>R | No | EVA | |
| rs3389548741 | 407 | L>P | No | EVA | |
| rs3389517829 | 420 | L>M | No | EVA | |
| rs3389477405 | 444 | T>R | No | EVA | |
| rs3411842988 | 490 | Y>C | No | EVA | |
| rs3411122759 | 505 | K>E | No | EVA | |
| rs3389561348 | 527 | I>N | No | EVA | |
| rs3389477298 | 542 | A>G | No | EVA | |
| rs3389561261 | 562 | K>Q | No | EVA | |
| rs3389477413 | 599 | K>R | No | EVA | |
| rs3389580163 | 604 | T>I | No | EVA | |
| rs3389582494 | 610 | N>K | No | EVA | |
| rs3389477379 | 643 | S>N | No | EVA | |
| rs3389561344 | 649 | G>E | No | EVA | |
| rs3408759099 | 657 | V>F | No | EVA | |
| rs3408759099 | 657 | V>I | No | EVA | |
| rs3409822971 | 663 | E>V | No | EVA | |
| rs3410428944 | 671 | G>E | No | EVA | |
| rs3410860157 | 709 | P>R | No | EVA | |
| rs3409935114 | 709 | P>S | No | EVA | |
| rs3389567909 | 718 | K>M | No | EVA | |
| rs3389577517 | 762 | E>K | No | EVA | |
| rs3389548685 | 780 | T>I | No | EVA | |
| rs3389564536 | 781 | R>G | No | EVA | |
| rs3411119312 | 792 | S>I | No | EVA |
No associated diseases with Q99J31
Functions
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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. |
| dendritic spine | A small, membranous protrusion from a dendrite that forms a postsynaptic compartment, typically receiving input from a single presynapse. They function as partially isolated biochemical and an electrical compartments. Spine morphology is variable:they can be thin, stubby, mushroom, or branched, with a continuum of intermediate morphologies. They typically terminate in a bulb shape, linked to the dendritic shaft by a restriction. Spine remodeling is though to be involved in synaptic plasticity. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| terminal bouton | 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 bouton is a specialized region of it. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
| GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
| ionotropic glutamate receptor binding | Binding to an ionotropic glutamate receptor. Ionotropic glutamate receptors bind glutamate and exert an effect through the regulation of ion channels. |
| phospholipid binding | Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester. |
16 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. |
| cell junction assembly | A cellular process that results in the aggregation, arrangement and bonding together of a set of components to form a cell junction. |
| cell morphogenesis involved in neuron differentiation | The process in which the structures of a neuron are generated and organized. This process occurs while the initially relatively unspecialized cell is acquiring the specialized features of a neuron. |
| cerebellar granule cell differentiation | The process in which neuroblasts acquire specialized structural and/or functional features that characterize the mature cerebellar granule cell. Differentiation includes the processes involved in commitment of a neuroblast to a granule cell fate. A granule cell is a glutamatergic interneuron found in the cerebellar cortex. |
| cerebral cortex neuron differentiation | The process in which a relatively unspecialized cell acquires specialized features of a neuron residing in the cerebral cortex. |
| establishment of epithelial cell apical/basal polarity | The specification and formation of the apicobasal polarity of an epithelial cell. |
| maintenance of postsynaptic specialization structure | A process which maintains the organization and the arrangement of proteins in the presynaptic specialization. |
| negative regulation of proteasomal protein catabolic process | Any process that stops, prevents or reduces the frequency, rate or extent of proteasomal protein catabolic process. |
| neuron differentiation | The process in which a relatively unspecialized cell acquires specialized features of a neuron. |
| neuron projection development | 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). |
| regulation of endocytosis | Any process that modulates the frequency, rate or extent of endocytosis. |
| regulation of postsynaptic neurotransmitter receptor internalization | Any process that modulates the frequency, rate or extent of endocytosis of neurotransmitter receptor at the postsynapse. |
| regulation of Rho protein signal transduction | Any process that modulates the frequency, rate or extent of Rho protein signal transduction. |
| regulation of synaptic transmission, glutamatergic | Any process that modulates the frequency, rate or extent of glutamatergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter glutamate. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| synaptic vesicle endocytosis | A vesicle-mediated transport process, in which the synaptic vesicle membrane constituents are retrieved from the presynaptic membrane on the axon terminal after neurotransmitter secretion by exocytosis. Synaptic vesicle endocytosis can occur via clathrin-dependent and clathrin-independent mechanisms. |
9 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5ZMW5 | ARHGAP26 | Rho GTPase-activating protein 26 | Gallus gallus (Chicken) | PR |
| Q7YQL6 | OPHN1 | Oligophrenin-1 | Pan troglodytes (Chimpanzee) | PR |
| A6NI28 | ARHGAP42 | Rho GTPase-activating protein 42 | Homo sapiens (Human) | PR |
| Q9UNA1 | ARHGAP26 | Rho GTPase-activating protein 26 | Homo sapiens (Human) | PR |
| O60890 | OPHN1 | Oligophrenin-1 | Homo sapiens (Human) | PR |
| B2RQE8 | Arhgap42 | Rho GTPase-activating protein 42 | Mus musculus (Mouse) | PR |
| Q6ZQ82 | Arhgap26 | Rho GTPase-activating protein 26 | Mus musculus (Mouse) | PR |
| P0CAX5 | Ophn1 | Oligophrenin-1 | Rattus norvegicus (Rat) | PR |
| B5DFQ4 | arhgap26 | Rho GTPase-activating protein 26 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGHPPLEFSD | CYLDSPDFRQ | RLKYYEEELE | RTNKFIKDVI | KDGSALISAM | RNYSSAVQKF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SQTLQSFQFD | FIGDTLTDDE | INIAESFKEF | AELLNEVENE | RMMMVQNASD | LLIKPLETFR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KEQIGFTKER | KKKFEKDGER | FYSLLDRHLH | LSSKKKESQL | LEADLQVDKE | RHNFFESSLD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YVYQIQEVQE | SKKFNIVEPV | LAFLHSLFIS | NSLTVELTQD | FLPYKQQLQL | SLQNTRNHFS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| STREEMEELK | KRMKEAPQTC | KLPGQPTIEG | YLYTQEKWAL | GISWAKYYCR | YEKETRMLTM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IPMEQKPGAK | QGPVDLTLKY | CVRRKTESID | KRFCFDIETN | ERPGTITLQA | PSEANRRLWM |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EAMDGKEPIY | HTPITKQEEM | ELNEVGFKFV | RKCINFIETK | GIKTEGLYRT | VGSNIQVQKL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LYAFFDPKCP | GDVDFHNSDW | DIKTITSSLK | FYLRNLSEPV | MTYKLHKELV | SAAKSDNLDY |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RLGAIHSLVY | KLPEKNREML | ELLIKHLVNV | CEHSKENLMT | PSNMGVIFGP | TLMRAQEDTV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| AAMMNIKFQN | IVVEILIEHF | GKIYLGPPED | SQVPPVPPPR | VTARRHKPIT | ISKRLLREKT |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VFYTSSLDEN | KDESHHQTPN | GTITSNLDPP | KLLQHLKPPM | QKSGETDPGR | KSPSRPVSDC |
| 670 | 680 | 690 | 700 | 710 | 720 |
| QSEPCLETDV | GRLLFRLQDG | GTKATPKASN | GPVPGSGHTK | TSSFHIRRPA | PRPMAHHKEG |
| 730 | 740 | 750 | 760 | 770 | 780 |
| DTDGFSKVRP | PGEKQTIIRP | PVRPPDPPCR | SITPQKPEPK | PETGSGNADE | IPSSVVASRT |
| 790 | 800 | ||||
| RFFETASRKT | GSSQGKLPGD | ES |