Q7TQF7
PR
Gene name |
Amph (Amph1) |
Protein name |
Amphiphysin |
Names |
|
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:218038 |
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 Q7TQF7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q7TQF7-F1 | Predicted | AlphaFoldDB |
40 variants for Q7TQF7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs3389273949 | 94 | D>N | No | EVA | |
| rs3389271251 | 146 | D>E | No | EVA | |
| rs3389266093 | 157 | S>C | No | EVA | |
| rs3389244690 | 171 | E>D | No | EVA | |
| rs3389273725 | 229 | E>D | No | EVA | |
| rs3389266038 | 260 | T>I | No | EVA | |
| rs230173843 | 267 | P>S | No | EVA | |
| rs3389286836 | 285 | S>T | No | EVA | |
| rs3389273932 | 342 | V>A | No | EVA | |
| rs3389279603 | 350 | T>I | No | EVA | |
| rs3389244545 | 371 | A>G | No | EVA | |
| rs3389279563 | 371 | A>T | No | EVA | |
| rs3389286881 | 382 | W>C | No | EVA | |
| rs3389273721 | 384 | L>V | No | EVA | |
| rs3389256406 | 404 | T>A | No | EVA | |
| rs49109897 | 445 | A>S | No | EVA | |
| rs46111143 | 466 | T>S | No | EVA | |
| rs259709936 | 478 | T>I | No | EVA | |
| rs219735643 | 482 | P>Q | No | EVA | |
| rs50733645 | 493 | L>R | No | EVA | |
| rs250747904 | 495 | A>S | No | EVA | |
| rs3389256430 | 500 | S>R | No | EVA | |
| rs3389230878 | 505 | K>Q | No | EVA | |
| rs46157272 | 522 | V>A | No | EVA | |
| rs258375192 | 526 | A>V | No | EVA | |
| rs13481715 | 531 | V>A | No | EVA | |
| rs3389273733 | 535 | V>L | No | EVA | |
| rs3389273774 | 536 | V>I | No | EVA | |
| rs3389273991 | 555 | G>S | No | EVA | |
| rs3389244662 | 571 | A>E | No | EVA | |
| rs29777132 | 590 | L>M | No | EVA | |
| rs29224801 | 597 | V>M | No | EVA | |
| rs3404039748 | 625 | E>A | No | EVA | |
| rs3403848293 | 625 | E>D | No | EVA | |
| rs3404002630 | 627 | A>S | No | EVA | |
| rs3403713270 | 628 | N>K | No | EVA | |
| rs3389244635 | 638 | D>G | No | EVA | |
| rs229750889 | 639 | V>L | No | EVA | |
| rs3389202051 | 646 | D>N | No | EVA | |
| rs3389269473 | 671 | A>P | No | EVA |
No associated diseases with Q7TQF7
Functions
11 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| 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. |
| extrinsic component of synaptic vesicle membrane | The component of the synaptic vesicle membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| leading edge membrane | The portion of the plasma membrane surrounding the leading edge of a motile cell. |
| photoreceptor ribbon synapse | A ribbon synapse between a retinal photoreceptor cell (rod or cone) and a retinal bipolar cell. These contain a plate-like synaptic ribbon. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| presynapse | The part of a synapse that is part of the presynaptic cell. |
| presynaptic endocytic zone | A specialized region of the plasma membrane and underlying cytoplasm which surround the the active zone, into which synaptic vesicle membranes are recycled following exocytosis. It is especially enriched in endocytic proteins following intense activity. |
| 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 |
|---|---|
| phospholipid binding | Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester. |
| protein C-terminus binding | Binding to a protein C-terminus, the end of a peptide chain at which the 1-carboxyl function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue. |
| protein-containing complex binding | Binding to a macromolecular complex. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| learning | Any process in an organism in which a relatively long-lasting adaptive behavioral change occurs as the result of experience. |
| positive regulation of endocytosis | Any process that activates or increases the frequency, rate or extent of endocytosis. |
| positive regulation of GTPase activity | Any process that activates or increases the activity of a GTPase. |
| 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. |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P50478 | AMPH | Amphiphysin | Gallus gallus (Chicken) | PR |
| O00499 | BIN1 | Myc box-dependent-interacting protein 1 | Homo sapiens (Human) | PR |
| Q9UBW5 | BIN2 | Bridging integrator 2 | Homo sapiens (Human) | PR |
| P49418 | AMPH | Amphiphysin | Homo sapiens (Human) | PR |
| O08539 | Bin1 | Myc box-dependent-interacting protein 1 | Mus musculus (Mouse) | PR |
| O08839 | Bin1 | Myc box-dependent-interacting protein 1 | Rattus norvegicus (Rat) | PR |
| O08838 | Amph | Amphiphysin | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MADIKTGIFA | KNVQKRLNRA | QEKVLQKLGK | ADETKDEQFE | EYVQNFKRQE | AEGTRLQREL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RGYLAAIKGM | QEASMKLTES | LHEVYEPDWY | GREDVKMVGE | KCDVLWEDFH | QKLVDGSLLT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LDTYLGQFPD | IKNRIAKRSR | KLVDYDSARH | HLEALQSSKR | KDESRISKAE | EEFQKAQKVF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EEFNVDLQEE | LPSLWSSRVG | FYVNTFKNVS | SLEAKFHKEI | AVLCHKLYEV | MTKLGDQHAD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KAFSIQGAPS | DSGPLRIAKT | PSPPEEPSPL | PSPTASPNHT | LAPASPAPVR | PRSPSQTRKG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PPVPPLPKVT | PTKELKQENI | INFFEDNFVP | EINVTTPSQN | EVLEVKKEET | LLDLDFDPFK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PDVAPAGSAA | ATHSPMSQTL | PWDLWTTSTD | LVQPASGGSF | NDFTQAQDTS | LFTMQTDQNM |
| 430 | 440 | 450 | 460 | 470 | 480 |
| AETEQALPTE | PQAEEPPATA | AAPTAGLDLG | LEMEEPKEEA | VIPPATDTGE | TVETAVPTEG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| APVEEAEAEK | AALPAGEGGS | PEGAKIDGES | TELAISESPQ | PVEPEAGAPQ | VIPSVVIEPA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SNHEGEGEHQ | ETATGTEPRE | AAEDVAAQGS | AGEKQEVATE | PTPLDSQATL | PASAGAVDAS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LSAGDATQEL | PPGFLYKVET | LHDFEAANSD | ELNLQRGDVV | LVVPSDSEAD | QDAGWLVGVK |
| 670 | 680 | ||||
| ESDWLQYRDL | ATYKGLFPEN | FTRRLE |