B2RXS4
Gene name |
Plxnb2 |
Protein name |
Plexin-B2 |
Names |
|
Species |
Arabidopsis thaliana (Mouse-ear cress) |
KEGG Pathway |
mmu:140570 |
EC number |
|
Protein Class |
VACUOLAR CALCIUM ION TRANSPORTER (PTHR31503) |
Descriptions
CAX1 plays a key role in determining cytosolic Ca2+ levels. A 36-amino acid N-terminal region on lCAX1 acts as an autoinhibitory domain for Ca2+/H+ transport activity. A synthetic peptide designed against the CAX1 36 amino acids inhibits Ca2+/H+ transport mediated by an N-terminal-truncated CAX1. The CAX1 N-terminal regulatory region physically interacts with the 7-amino acid region (residues 56-62) within CAX1.
Autoinhibitory domains (AIDs)
Target domain |
1275-1809 (Plexin, cytoplasmic RasGAP domain) |
Relief mechanism |
Partner binding |
Assay |
|
Target domain |
1275-1809 (Plexin, cytoplasmic RasGAP domain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
References
- Wang Y et al. (2012) "Plexins are GTPase-activating proteins for Rap and are activated by induced dimerization", Science signaling, 5, ra6
- He H et al. (2009) "Crystal structure of the plexin A3 intracellular region reveals an autoinhibited conformation through active site sequestration", Proceedings of the National Academy of Sciences of the United States of America, 106, 15610-5
Autoinhibited structure
Activated structure
3 structures for B2RXS4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5E6P | X-ray | 321 A | A | 1226-1842 | PDB |
| 7KDC | X-ray | 310 A | C/D | 1463-1565 | PDB |
| AF-B2RXS4-F1 | Predicted | AlphaFoldDB |
96 variants for B2RXS4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs252475511 | 14 | T>M | No | EVA | |
| rs864299025 | 26 | E>G | No | EVA | |
| rs1132540772 | 53 | A>E | No | EVA | |
| rs49880590 | 177 | H>N | No | EVA | |
| rs265917866 | 271 | D>V | No | EVA | |
| rs3389387900 | 289 | G>S | No | EVA | |
| rs242209047 | 290 | A>T | No | EVA | |
| rs3389387845 | 290 | A>V | No | EVA | |
| rs3389381213 | 307 | G>R | No | EVA | |
| rs3389332752 | 323 | K>T | No | EVA | |
| rs3389351777 | 345 | K>N | No | EVA | |
| rs252614717 | 383 | A>T | No | EVA | |
| rs3389391383 | 386 | V>A | No | EVA | |
| rs864284746 | 396 | A>P | No | EVA | |
| rs3389382067 | 412 | T>N | No | EVA | |
| rs3389380211 | 442 | I>F | No | EVA | |
| rs3389397328 | 442 | I>N | No | EVA | |
| rs3389381172 | 480 | C>Y | No | EVA | |
| rs3389381227 | 497 | C>S | No | EVA | |
| rs3389332692 | 498 | T>I | No | EVA | |
| rs3389380240 | 507 | E>* | No | EVA | |
| rs3389380240 | 507 | E>K | No | EVA | |
| rs3389376442 | 557 | C>W | No | EVA | |
| rs3389372729 | 557 | C>Y | No | EVA | |
| rs3389377526 | 562 | S>L | No | EVA | |
| rs3389372690 | 578 | S>P | No | EVA | |
| rs3389397376 | 600 | L>F | No | EVA | |
| rs3389387878 | 627 | L>P | No | EVA | |
| rs3389382097 | 637 | W>L | No | EVA | |
| rs3389397336 | 637 | W>R | No | EVA | |
| rs3389391346 | 655 | P>T | No | EVA | |
| rs3389362865 | 661 | R>C | No | EVA | |
| rs3389351699 | 688 | T>S | No | EVA | |
| rs3389300057 | 696 | T>N | No | EVA | |
| rs3389391353 | 711 | F>S | No | EVA | |
| rs3389375376 | 725 | F>Y | No | EVA | |
| rs3389351763 | 729 | K>N | No | EVA | |
| rs50813147 | 732 | H>Y | No | EVA | |
| rs3389382028 | 735 | N>K | No | EVA | |
| rs864281592 | 749 | K>E | No | EVA | |
| rs3389362836 | 791 | V>L | No | EVA | |
| rs31808964 | 798 | N>S | No | EVA | |
| rs3389397341 | 801 | S>Y | No | EVA | |
| rs3406382563 | 817 | P>A | No | EVA | |
| rs3406524078 | 818 | L>* | No | EVA | |
| rs3389377575 | 830 | N>K | No | EVA | |
| rs3389381203 | 842 | T>I | No | EVA | |
| rs3389372664 | 905 | P>S | No | EVA | |
| rs3389387848 | 909 | P>S | No | EVA | |
| rs3389385976 | 935 | L>V | No | EVA | |
| rs3551929684 | 970 | G>S | No | EVA | |
| rs3389385939 | 1041 | R>L | No | EVA | |
| rs3389381195 | 1053 | N>I | No | EVA | |
| rs3389332696 | 1055 | T>N | No | EVA | |
| rs3389397381 | 1187 | V>M | No | EVA | |
| rs3389377562 | 1200 | V>M | No | EVA | |
| rs3389379828 | 1218 | V>A | No | EVA | |
| rs3389375436 | 1230 | Q>* | No | EVA | |
| rs3389397371 | 1266 | D>Y | No | EVA | |
| rs3389375392 | 1293 | S>T | No | EVA | |
| rs3389351712 | 1307 | D>N | No | EVA | |
| rs3552050949 | 1315 | I>M | No | EVA | |
| rs3551881103 | 1315 | I>V | No | EVA | |
| rs3389397346 | 1356 | S>T | No | EVA | |
| rs3389397389 | 1360 | V>A | No | EVA | |
| rs3389344942 | 1441 | V>M | No | EVA | |
| rs3389385893 | 1450 | Y>C | No | EVA | |
| rs3389332709 | 1464 | Y>C | No | EVA | |
| rs3389344925 | 1465 | A>T | No | EVA | |
| rs3389391370 | 1483 | V>D | No | EVA | |
| rs3389379866 | 1483 | V>I | No | EVA | |
| rs3389382032 | 1486 | L>F | No | EVA | |
| rs3389377533 | 1500 | D>A | No | EVA | |
| rs3389387841 | 1501 | Q>H | No | EVA | |
| rs3389332700 | 1525 | S>C | No | EVA | |
| rs3389332700 | 1525 | S>F | No | EVA | |
| rs3404834559 | 1536 | T>P | No | EVA | |
| rs3389379874 | 1539 | R>W | No | EVA | |
| rs3389332779 | 1540 | E>D | No | EVA | |
| rs3389385964 | 1541 | G>S | No | EVA | |
| rs3389344853 | 1549 | L>Q | No | EVA | |
| rs3389376445 | 1595 | L>S | No | EVA | |
| rs3389351727 | 1597 | R>W | No | EVA | |
| rs3406382565 | 1613 | K>T | No | EVA | |
| rs3389376490 | 1615 | K>I | No | EVA | |
| rs3389387846 | 1656 | P>A | No | EVA | |
| rs3389332758 | 1684 | K>N | No | EVA | |
| rs3389375433 | 1712 | V>L | No | EVA | |
| rs3406382589 | 1724 | M>V | No | EVA | |
| rs3389377485 | 1739 | P>S | No | EVA | |
| rs3389387816 | 1751 | T>I | No | EVA | |
| rs3389377501 | 1767 | V>L | No | EVA | |
| rs3389376436 | 1793 | V>A | No | EVA | |
| rs3389300088 | 1806 | Y>* | No | EVA | |
| rs3404834551 | 1814 | E>V | No | EVA | |
| rs3389377511 | 1826 | F>V | No | EVA |
1 associated diseases with B2RXS4
[MIM: 620430]: Autoimmune disease, multisystem, infantile-onset, 3 (ADMIO3)
An autosomal recessive disorder characterized by autoimmune manifestations apparent in the first months or years of life. Clinical features may include hypothyroidism, type 1 diabetes mellitus, systemic inflammatory manifestations such as fever and hepatomegaly, and autoimmune cytopenias. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive disorder characterized by autoimmune manifestations apparent in the first months or years of life. Clinical features may include hypothyroidism, type 1 diabetes mellitus, systemic inflammatory manifestations such as fever and hepatomegaly, and autoimmune cytopenias. . Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR31503 | VACUOLAR CALCIUM ION TRANSPORTER |
| PANTHER Subfamily | PTHR31503:SF43 | VACUOLAR CATION_PROTON EXCHANGER 1 |
| PANTHER Protein Class | transporter | |
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| collagen-containing extracellular matrix | An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| semaphorin receptor complex | A stable binary complex of a neurophilin and a plexin, together forming a functional semaphorin receptor. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| semaphorin receptor activity | Combining with a semaphorin, and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. |
16 GO annotations of biological process
| Name | Definition |
|---|---|
| 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.). |
| excitatory synapse assembly | The aggregation, arrangement and bonding together of a set of components to form an excitatory synapse. |
| homophilic cell adhesion via plasma membrane adhesion molecules | The attachment of a plasma membrane adhesion molecule in one cell to an identical molecule in an adjacent cell. |
| negative regulation of cell adhesion | Any process that stops, prevents, or reduces the frequency, rate or extent of cell adhesion. |
| neural tube closure | The last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline. |
| neuroblast proliferation | The expansion of a neuroblast population by cell division. A neuroblast is any cell that will divide and give rise to a neuron. |
| positive regulation of axonogenesis | Any process that activates or increases the frequency, rate or extent of axonogenesis. |
| positive regulation of neuron projection development | Any process that increases 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). |
| positive regulation of translation | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. |
| regulation of cell migration | Any process that modulates the frequency, rate or extent of cell migration. |
| regulation of cell shape | Any process that modulates the surface configuration of a cell. |
| regulation of GTPase activity | Any process that modulates the rate of GTP hydrolysis by a GTPase. |
| regulation of neuron migration | Any process that modulates the frequency, rate or extent of neuron migration. |
| regulation of protein phosphorylation | Any process that modulates the frequency, rate or extent of addition of phosphate groups into an amino acid in a protein. |
| semaphorin-plexin signaling pathway | The series of molecular signals generated as a consequence of a semaphorin receptor (composed of a plexin and a neurophilin) binding to a semaphorin ligand. |
| semaphorin-plexin signaling pathway involved in axon guidance | Any semaphorin-plexin signaling pathway that is involved in axon guidance. |
27 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q769I5 | MET | Hepatocyte growth factor receptor | Bos taurus (Bovine) | PR |
| A0M8S8 | MET | Hepatocyte growth factor receptor | Felis catus (Cat) (Felis silvestris catus) | PR |
| Q04912 | MST1R | Macrophage-stimulating protein receptor | Homo sapiens (Human) | EV |
| P08581 | MET | Hepatocyte growth factor receptor | Homo sapiens (Human) | EV |
| O43157 | PLXNB1 | Plexin-B1 | Homo sapiens (Human) | EV SS |
| Q9HCM2 | PLXNA4 | Plexin-A4 | Homo sapiens (Human) | SS |
| O75051 | PLXNA2 | Plexin-A2 | Homo sapiens (Human) | SS |
| P51805 | PLXNA3 | Plexin-A3 | Homo sapiens (Human) | SS |
| Q9UIW2 | PLXNA1 | Plexin-A1 | Homo sapiens (Human) | EV SS |
| Q9ULL4 | PLXNB3 | Plexin-B3 | Homo sapiens (Human) | SS |
| O15031 | PLXNB2 | Plexin-B2 | Homo sapiens (Human) | SS |
| Q62190 | Mst1r | Macrophage-stimulating protein receptor | Mus musculus (Mouse) | SS |
| P16056 | Met | Hepatocyte growth factor receptor | Mus musculus (Mouse) | PR |
| P70206 | Plxna1 | Plexin-A1 | Mus musculus (Mouse) | EV SS |
| P70207 | Plxna2 | Plexin-A2 | Mus musculus (Mouse) | SS |
| Q3UH93 | Plxnd1 | Plexin-D1 | Mus musculus (Mouse) | SS |
| Q80UG2 | Plxna4 | Plexin-A4 | Mus musculus (Mouse) | SS |
| Q8CJH3 | Plxnb1 | Plexin-B1 | Mus musculus (Mouse) | SS |
| Q9QY40 | Plxnb3 | Plexin-B3 | Mus musculus (Mouse) | SS |
| Q9QZC2 | Plxnc1 | Plexin-C1 | Mus musculus (Mouse) | SS |
| P70208 | Plxna3 | Plexin-A3 | Mus musculus (Mouse) | EV SS |
| Q2QLE0 | MET | Hepatocyte growth factor receptor | Sus scrofa (Pig) | PR |
| P97523 | Met | Hepatocyte growth factor receptor | Rattus norvegicus (Rat) | PR |
| D3ZPX4 | Plxna3 | Plexin-A3 | Rattus norvegicus (Rat) | SS |
| D3ZLH5 | Plxnb3 | Plexin-B3 | Rattus norvegicus (Rat) | SS |
| Q6BEA0 | plxna4 | Plexin-A4 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| B0S5N4 | plxna3 | Plexin A3 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAGIVTEPWS | VAENGNPSIT | AKGSSRELRL | GRTAHNMSSS | SLRKKSDLRV | IQKVPYKGLK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DFLSNLQEVI | LGTKLAILFP | AIPAAIICTY | CGVSQPWIFG | LSLLGLTPLA | ERVSFLTEQL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AFYTGPTLGG | LLNATCGNAT | ELIIAILALT | NNKVAVVKYS | LLGSILSNLL | LVLGTSLFCG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GIANIRREQR | FDRKQADVNF | FLLLLGFLCH | LLPLLVGYLK | NGEASAAVLS | DMQLSISRGF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SIVMLISYIA | YLVFQLWTHR | QLFDAQEQED | EYDDDVEQET | AVISFWSGFA | WLVGMTLVIA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LLSEYVVATI | EEASDKWNLS | VSFISIILLP | IVGNAAEHAG | AVIFAFKNKL | DISLGVALGS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ATQIGLFVVP | LTIIVAWILG | INMDLNFGPL | ETGCLAVSII | ITAFTLQDGS | SHYMKGLVLL |
| 430 | 440 | 450 | 460 | ||
| LCYFIIAICF | FVDKLPQKQN | AIHLGHQAMN | NVVTATGGGV | FSS |