Q810U3
PR
Gene name |
Nfasc |
Protein name |
Neurofascin |
Names |
|
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:269116 |
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 Q810U3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q810U3-F1 | Predicted | AlphaFoldDB |
47 variants for Q810U3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs3413095632 | 12 | I>K | No | EVA | |
| rs3388497615 | 106 | G>D | No | EVA | |
| rs3388496774 | 111 | E>K | No | EVA | |
| rs3388497501 | 125 | G>V | No | EVA | |
| rs3388498957 | 140 | P>S | No | EVA | |
| rs232561408 | 156 | A>T | No | EVA | |
| rs3388497513 | 175 | W>R | No | EVA | |
| rs3388500075 | 246 | F>Y | No | EVA | |
| rs3388499024 | 277 | D>E | No | EVA | |
| rs3390641817 | 344 | K>R | No | EVA | |
| rs3390640937 | 345 | N>S | No | EVA | |
| rs3388497616 | 401 | S>R | No | EVA | |
| rs3388499457 | 421 | A>V | No | EVA | |
| rs3388499474 | 441 | R>K | No | EVA | |
| rs3388498489 | 486 | L>P | No | EVA | |
| rs3388497639 | 487 | E>D | No | EVA | |
| rs3388499016 | 496 | Q>H | No | EVA | |
| rs3388497570 | 506 | I>N | No | EVA | |
| rs3388499825 | 531 | Q>L | No | EVA | |
| rs3388501562 | 535 | R>S | No | EVA | |
| rs3388498160 | 536 | G>D | No | EVA | |
| rs3388500078 | 545 | V>E | No | EVA | |
| rs3388497000 | 571 | K>E | No | EVA | |
| rs37963222 | 578 | T>M | No | EVA | |
| rs3388496199 | 694 | P>S | No | EVA | |
| rs3388501561 | 750 | P>H | No | EVA | |
| rs3388499912 | 763 | Y>* | No | EVA | |
| rs3388499512 | 783 | G>D | No | EVA | |
| rs3388499019 | 790 | Q>* | No | EVA | |
| rs3388496217 | 801 | V>D | No | EVA | |
| rs3388495882 | 823 | D>Y | No | EVA | |
| rs3388499896 | 868 | T>I | No | EVA | |
| rs3388495938 | 872 | K>R | No | EVA | |
| rs3388499451 | 897 | R>H | No | EVA | |
| rs3388497568 | 970 | T>I | No | EVA | |
| rs215860703 | 985 | T>A | No | EVA | |
| rs36764211 | 994 | P>L | No | EVA | |
| rs3388495874 | 1035 | P>H | No | EVA | |
| rs3388497670 | 1048 | H>Q | No | EVA | |
| rs3388496921 | 1107 | T>I | No | EVA | |
| rs3390647365 | 1116 | C>* | No | EVA | |
| rs3388496235 | 1130 | F>I | No | EVA | |
| rs3388498565 | 1162 | D>E | No | EVA | |
| rs3388499295 | 1164 | S>R | No | EVA | |
| rs3388501570 | 1202 | F>S | No | EVA | |
| rs3388498506 | 1216 | K>Q | No | EVA | |
| rs37940270 | 1233 | V>L | No | EVA |
No associated diseases with Q810U3
27 regional properties for Q810U3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Immunoglobulin subtype 2 | 54 - 125 | IPR003598-1 |
| domain | Immunoglobulin subtype 2 | 153 - 220 | IPR003598-2 |
| domain | Immunoglobulin subtype 2 | 259 - 323 | IPR003598-3 |
| domain | Immunoglobulin subtype 2 | 349 - 415 | IPR003598-4 |
| domain | Immunoglobulin subtype 2 | 443 - 508 | IPR003598-5 |
| domain | Immunoglobulin subtype 2 | 534 - 599 | IPR003598-6 |
| domain | Immunoglobulin subtype | 48 - 137 | IPR003599-1 |
| domain | Immunoglobulin subtype | 147 - 234 | IPR003599-2 |
| domain | Immunoglobulin subtype | 253 - 334 | IPR003599-3 |
| domain | Immunoglobulin subtype | 343 - 426 | IPR003599-4 |
| domain | Immunoglobulin subtype | 437 - 519 | IPR003599-5 |
| domain | Immunoglobulin subtype | 528 - 610 | IPR003599-6 |
| domain | Fibronectin type III | 628 - 725 | IPR003961-1 |
| domain | Fibronectin type III | 727 - 823 | IPR003961-2 |
| domain | Fibronectin type III | 825 - 923 | IPR003961-3 |
| domain | Fibronectin type III | 1007 - 1099 | IPR003961-4 |
| domain | Immunoglobulin-like domain | 41 - 137 | IPR007110-1 |
| domain | Immunoglobulin-like domain | 143 - 230 | IPR007110-2 |
| domain | Immunoglobulin-like domain | 244 - 332 | IPR007110-3 |
| domain | Immunoglobulin-like domain | 337 - 424 | IPR007110-4 |
| domain | Immunoglobulin-like domain | 430 - 517 | IPR007110-5 |
| domain | Immunoglobulin-like domain | 521 - 603 | IPR007110-6 |
| domain | Immunoglobulin I-set | 447 - 518 | IPR013098-1 |
| domain | Immunoglobulin I-set | 524 - 609 | IPR013098-2 |
| domain | Immunoglobulin | 149 - 218 | IPR013151 |
| domain | Neurofascin, immunoglobulin-like domain | 41 - 135 | IPR026965 |
| domain | Neurofascin/L1/NrCAM, C-terminal domain | 1132 - 1215 | IPR026966 |
11 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| axon initial segment | Portion of the axon proximal to the neuronal cell body, at the level of the axon hillock. The action potentials that propagate along the axon are generated at the level of this initial segment. |
| 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. |
| integral component of plasma membrane | The component of the plasma 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. |
| myelin sheath | An electrically insulating fatty layer that surrounds the axons of many neurons. It is an outgrowth of glial cells: Schwann cells supply the myelin for peripheral neurons while oligodendrocytes supply it to those of the central nervous system. |
| node of Ranvier | An axon part that is a gap in the myelin where voltage-gated sodium channels cluster and saltatory conduction is executed. |
| paranodal junction | A highly specialized cell-cell junction found in vertebrates, which forms between a neuron and a glial cell, and has structural similarity to Drosophila septate junctions. It flanks the node of Ranvier in myelinated nerve and electrically isolates the myelinated from unmyelinated nerve segments and physically separates the voltage-gated sodium channels at the node from the cluster of potassium channels underneath the myelin sheath. |
| paranode region of axon | An axon part that is located adjacent to the nodes of Ranvier and surrounded by lateral loop portions of myelin sheath. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| Schwann cell microvillus | Small finger-like extension of a Schwann cell that contacts the nodal membrane. |
| septate junction | A cell-cell junction that forms a continuous band around each cell in an epithelium; within the septate junction the membranes of adjacent cells maintain a constant distance of approximately 15 nm; found in arthropods. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| cell-cell adhesion mediator activity | The binding by a cell-adhesion protein on the cell surface to an extracellular matrix component, to mediate adhesion of the cell to another cell. |
| protein binding involved in heterotypic cell-cell adhesion | Binding to a protein or protein complex contributing to the adhesion of two different types of cells. |
| protein domain specific binding | Binding to a specific domain of a protein. |
11 GO annotations of biological process
| Name | Definition |
|---|---|
| axon guidance | The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues. |
| brain development | The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). |
| cell-cell adhesion | The attachment of one cell to another cell via adhesion molecules. |
| clustering of voltage-gated sodium channels | The process in which voltage-gated sodium channels become localized together in high densities. In animals, nodes of Ranvier differ dramatically from internodal axonal regions in very high densities of voltage-dependent sodium (Nav) channels responsible for the rapid, inward ionic currents that produce membrane depolarization. |
| paranodal junction assembly | Formation of the junction between an axon and the glial cell that forms the myelin sheath. Paranodal junctions form at each paranode, i.e. at the ends of the unmyelinated nodes of Ranvier. |
| peripheral nervous system development | The process whose specific outcome is the progression of the peripheral nervous system over time, from its formation to the mature structure. The peripheral nervous system is one of the two major divisions of the nervous system. Nerves in the PNS connect the central nervous system (CNS) with sensory organs, other organs, muscles, blood vessels and glands. |
| protein localization to juxtaparanode region of axon | Any process in which a protein is transported to, or maintained at, the juxtaparanode region of an axon. |
| protein localization to paranode region of axon | A cellular protein localization process in which a protein is transported to, or maintained at, the paranode region of an axon. |
| protein localization to plasma membrane | A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane. |
| synapse organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a synapse, the junction between a neuron and a target (neuron, muscle, or secretory cell). |
| transmission of nerve impulse | The neurological system process in which a signal is transmitted through the nervous system by a combination of action potential propagation and synaptic transmission. |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P32004 | L1CAM | Neural cell adhesion molecule L1 | Homo sapiens (Human) | PR |
| P11627 | L1cam | Neural cell adhesion molecule L1 | Mus musculus (Mouse) | PR |
| Q05BQ1 | Igsf9 | Protein turtle homolog A | Mus musculus (Mouse) | PR |
| Q6AZB0 | Boc | Brother of CDO | Mus musculus (Mouse) | PR |
| Q62845 | Cntn4 | Contactin-4 | Rattus norvegicus (Rat) | PR |
| Q62682 | Cntn3 | Contactin-3 | Rattus norvegicus (Rat) | PR |
| Q05695 | L1cam | Neural cell adhesion molecule L1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MARQQAPPWV | HIALILFLLS | LGGAIEIPMD | PSIQNELTQP | PTITKQSVKD | HIVDPRDNIL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IECEAKGNPA | PSFHWTRNSR | FFNIAKDPRV | SMRRRSGTLV | IDFRSGGRPE | EYEGEYQCFA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RNKFGTALSN | RIRLQVSKSP | LWPKENLDPV | VVQEGAPLTL | QCNPPPGLPS | PVIFWMSSSM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EPITQDKRVS | QGHNGDLYFS | NVMLQDMQTD | YSCNARFHFT | HTIQQKNPFT | LKVLTTRGVA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ERTPSFMYPQ | GTSSSQMVLR | GMDLLLECIA | SGVPTPDIAW | YKKGGDLPSN | KAKFENFNKA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LRITNVSEED | SGEYFCLASN | KMGSIRHTIS | VRVKAAPYWL | DEPKNLILAP | GEDGRLVCRA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NGNPKPTVQW | MVNGEPLQSA | PPNPNREVAG | DTIIFRDTQI | SSRAVYQCNT | SNEHGYLLAN |
| 430 | 440 | 450 | 460 | 470 | 480 |
| AFVSVLDVPP | RMLSARNQLI | RVILYNRTRL | DCPFFGSPIP | TLRWFKNGQG | SNLDGGNYHV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| YENGSLEIKM | IRKEDQGIYT | CVATNILGKA | ENQVRLEVKD | PTRIYRMPED | QVAKRGTTVQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LECRVKHDPS | LKLTVSWLKD | DEPLYIGNRM | KKEDDSLTIF | GVAERDQGSY | TCMASTELDQ |
| 610 | 620 | 630 | 640 | 650 | 660 |
| DLAKAYLTVL | ADQATPTNRL | AALPKGRPDR | PRDLELTDLA | ERSVRLTWIP | GDDNNSPITD |
| 670 | 680 | 690 | 700 | 710 | 720 |
| YVVQFEEDQF | QPGVWHDHSR | FPGSVNSAVL | HLSPYVNYQF | RVIAVNEVGS | SHPSLPSERY |
| 730 | 740 | 750 | 760 | 770 | 780 |
| RTSGAPPESN | PSDVKGEGTR | KNNMEITWTP | MNATSAFGPN | LRYIVKWRRR | ETRETWNNVT |
| 790 | 800 | 810 | 820 | 830 | 840 |
| VWGSRYVVGQ | TPVYVPYEIR | VQAENDFGKG | PEPDTIIGYS | GEDLPSAPRR | FRVRQPNLET |
| 850 | 860 | 870 | 880 | 890 | 900 |
| INLEWDHPEH | PNGILIGYIL | RYVPFNGTKL | GKQMVENFSP | NQTKFSVQRA | DPVSRYRFSL |
| 910 | 920 | 930 | 940 | 950 | 960 |
| SARTQVGSGE | AATEESPAPP | NEATPTAAPP | TLPPTTVGTT | GLVSSTDATA | LAATSEATTV |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| PIIPTVVPTT | VATTIATTTT | TTAATTTTTT | TESPPTTTAG | TKIHETAPDE | QSIWNVTVLP |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| NSKWANITWK | HNFRPGTDFV | VEYIDSNHTK | KTVPVKAQAQ | PIQLTDLFPG | MTYTLRVYSR |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| DNEGISSTVI | TFMTSTAYTN | NQADIATQGW | FIGLMCAIAL | LVLILLIVCF | IKRSRGGKYP |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| VREKKDVPLG | PEDPKEEDGS | FDYSDEDNKP | LQGSQTSLDG | TIKQQESDDS | LVDYGEGGEG |
| 1210 | 1220 | 1230 | |||
| QFNEDGSFIG | QYTVKKDKEE | TEGNESSEAT | SPVNAIYSLA |