Q68F79
PR
Gene name |
lrrc8e |
Protein name |
Volume-regulated anion channel subunit LRRC8E |
Names |
Leucine-rich repeat-containing protein 8E |
Species |
Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) |
KEGG Pathway |
xtr:493249 |
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 Q68F79
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q68F79-F1 | Predicted | AlphaFoldDB |
No variants for Q68F79
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| No variants for Q68F79 | |||||
1 associated diseases with Q68F79
[MIM: 618667]: Hydrocephalus, congenital communicating, 1 (HYDCC1)
A form of congenital hydrocephalus, a disease characterized by onset in utero of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. Affected individuals may have neurologic impairment. HYDCC1 inheritance is autosomal dominant. {ECO:0000269|PubMed:29983323}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of congenital hydrocephalus, a disease characterized by onset in utero of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. Affected individuals may have neurologic impairment. HYDCC1 inheritance is autosomal dominant. {ECO:0000269|PubMed:29983323}. Note=The disease is caused by variants affecting the gene represented in this entry.
12 regional properties for Q68F79
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | B-box-type zinc finger | 194 - 243 | IPR000315-1 |
| domain | B-box-type zinc finger | 273 - 314 | IPR000315-2 |
| repeat | NHL repeat | 593 - 636 | IPR001258-1 |
| repeat | NHL repeat | 640 - 683 | IPR001258-2 |
| repeat | NHL repeat | 687 - 730 | IPR001258-3 |
| repeat | NHL repeat | 734 - 777 | IPR001258-4 |
| repeat | NHL repeat | 781 - 824 | IPR001258-5 |
| repeat | NHL repeat | 828 - 868 | IPR001258-6 |
| repeat | Filamin/ABP280 repeat | 483 - 583 | IPR001298 |
| domain | Zinc finger, RING-type | 12 - 95 | IPR001841 |
| repeat | Filamin/ABP280 repeat-like | 479 - 580 | IPR017868 |
| conserved_site | Zinc finger, RING-type, conserved site | 61 - 70 | IPR017907 |
Functions
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| integral component of lysosomal membrane | The component of the lysosome 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. |
| 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. |
| ion channel complex | A protein complex that spans a membrane and forms a water-filled channel across the phospholipid bilayer allowing selective ion transport down its electrochemical gradient. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| volume-sensitive anion channel activity | Enables the transmembrane transfer of an anion by a volume-sensitive channel. An anion is a negatively charged ion. A volume-sensitive channel is a channel that responds to changes in the volume of a cell. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| anion transmembrane transport | The process in which an anion is transported across a membrane. |
| aspartate transmembrane transport | The process in which aspartate is transported across a lipid bilayer, from one side of a membrane to the other. |
| cell volume homeostasis | Any process involved in maintaining the steady state of a cell's volume. The cell's volume refers to the three-dimensional space occupied by a cell. |
| cellular response to osmotic stress | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating an increase or decrease in the concentration of solutes outside the organism or cell. |
| cyclic-GMP-AMP transmembrane import across plasma membrane | The directed movement of cyclic-GMP-AMP from outside of a cell, across the plasma membrane and into the cytosol. |
36 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3MHH9 | ECM2 | Extracellular matrix protein 2 | Bos taurus (Bovine) | PR |
| P58874 | OPTC | Opticin | Bos taurus (Bovine) | PR |
| Q24K06 | LRRC10 | Leucine-rich repeat-containing protein 10 | Bos taurus (Bovine) | PR |
| Q9V780 | Lap1 | Protein lap1 | Drosophila melanogaster (Fruit fly) | PR |
| Q96NW7 | LRRC7 | Leucine-rich repeat-containing protein 7 | Homo sapiens (Human) | PR |
| Q9HCJ2 | LRRC4C | Leucine-rich repeat-containing protein 4C | Homo sapiens (Human) | PR |
| Q9UFC0 | LRWD1 | Leucine-rich repeat and WD repeat-containing protein 1 | Homo sapiens (Human) | PR |
| Q96L50 | LRR1 | Leucine-rich repeat protein 1 | Homo sapiens (Human) | PR |
| Q86UN2 | RTN4RL1 | Reticulon-4 receptor-like 1 | Homo sapiens (Human) | PR |
| Q8IWK6 | ADGRA3 | Adhesion G protein-coupled receptor A3 | Homo sapiens (Human) | PR |
| Q96FE5 | LINGO1 | Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 | Homo sapiens (Human) | PR |
| Q38SD2 | LRRK1 | Leucine-rich repeat serine/threonine-protein kinase 1 | Homo sapiens (Human) | EV |
| Q7L1W4 | LRRC8D | Volume-regulated anion channel subunit LRRC8D | Homo sapiens (Human) | PR |
| Q8IWT6 | LRRC8A | Volume-regulated anion channel subunit LRRC8A | Homo sapiens (Human) | PR |
| Q8TDW0 | LRRC8C | Volume-regulated anion channel subunit LRRC8C | Homo sapiens (Human) | PR |
| A6H694 | Lrrc63 | Leucine-rich repeat-containing protein 63 | Mus musculus (Mouse) | PR |
| Q9D9Q0 | Lrrc69 | Leucine-rich repeat-containing protein 69 | Mus musculus (Mouse) | PR |
| Q8BGI7 | Lrrc39 | Leucine-rich repeat-containing protein 39 | Mus musculus (Mouse) | PR |
| Q7TT36 | Adgra3 | Adhesion G protein-coupled receptor A3 | Mus musculus (Mouse) | PR |
| P59383 | Lrrn4 | Leucine-rich repeat neuronal protein 4 | Mus musculus (Mouse) | PR |
| Q9D1T0 | Lingo1 | Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 | Mus musculus (Mouse) | PR |
| Q8K0S5 | Rtn4rl1 | Reticulon-4 receptor-like 1 | Mus musculus (Mouse) | PR |
| Q80TE7 | Lrrc7 | Leucine-rich repeat-containing protein 7 | Mus musculus (Mouse) | PR |
| Q5DU41 | Lrrc8b | Volume-regulated anion channel subunit LRRC8B | Mus musculus (Mouse) | PR |
| Q5RKR3 | Islr2 | Immunoglobulin superfamily containing leucine-rich repeat protein 2 | Mus musculus (Mouse) | PR |
| Q8C031 | Lrrc4c | Leucine-rich repeat-containing protein 4C | Mus musculus (Mouse) | PR |
| Q80WG5 | Lrrc8a | Volume-regulated anion channel subunit LRRC8A | Mus musculus (Mouse) | PR |
| Q8R502 | Lrrc8c | Volume-regulated anion channel subunit LRRC8C | Mus musculus (Mouse) | PR |
| P70587 | Lrrc7 | Leucine-rich repeat-containing protein 7 | Rattus norvegicus (Rat) | PR |
| Q4V8G0 | Lrrc63 | Leucine-rich repeat-containing protein 63 | Rattus norvegicus (Rat) | PR |
| Q80WD0 | Rtn4rl1 | Reticulon-4 receptor-like 1 | Rattus norvegicus (Rat) | PR |
| Q9TZM3 | lrk-1 | Leucine-rich repeat serine/threonine-protein kinase 1 | Caenorhabditis elegans | SS |
| Q9SHI4 | RLP3 | Receptor-like protein 3 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q5G5E0 | PIRL5 | Plant intracellular Ras-group-related LRR protein 5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| B0JZ65 | lrwd1 | Leucine-rich repeat and WD repeat-containing protein 1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| B0R160 | lrwd1 | Leucine-rich repeat and WD repeat-containing protein 1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MIPVAEFKQF | TEQQPAFKVL | KPWWDVLAEY | ITYAMLMIGV | FGCTLQVTQD | KIICLPNHTS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ADVVSQITCQ | EYDQQSPPSN | DSDLETTIPP | PTATSSPPRE | MSGLRNNLDL | QQYSFINQMC |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YETALHWYAK | YFPYLVVIHT | LIFIICGNFW | FKFPGTSSKI | EHFISILGKC | FDSPWTTRAL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SEVSGESSQE | KPSQERSIDR | ELSKPNFEEG | SPATADLPIA | EKLVAETSSA | SVLDKKEGEQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AKALFEKVKK | FRHHVEEGDL | LYSMYMRQTV | LKVCKFVLIT | IYNAVLVGKI | HFIVPCSVHT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EDMTGYNSFC | CNHTKAHLFS | KLAITYLCFL | GVYGLTCLYT | LYWLFRRPLK | EYSFRSVREE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TGIGDIPDVK | NDFAFVLHLV | DQYDSLYSKR | FAVFLSEVSE | SRLRQLNLNH | EWPADKLRQK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LQHTPEGRLE | LHLFKLPGLP | DTVFEVAEME | SLKLEMVNEA | LIPPLVSKLV | RLEELSLINC |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TAKVQHASLA | YLRDHLRILQ | VKFDDIKEIP | LWIFSLRALE | ELHLFGWLSQ | DLSKNPALES |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LRELKSLKVL | TIKSNLSKIP | ATVADVAGHL | QKFSIHNDGT | KLLTLNALKR | LALVKELELV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RCELERIPHA | VFSLTNLQVL | DLKENTLHTI | EEIISLQHCR | KLSVLRLWHN | QIAYIPEHIR |
| 670 | 680 | 690 | 700 | 710 | 720 |
| KLKGLEELSL | NRNKILVIPS | QLFLCNKLRH | LDLSNNEIRE | LPPEIGVLQL | LQYLGLSGNF |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LEDLPNELFF | CQKLKTLKLG | QNRLGNLSPK | VGSLVCLVKL | ELKGNRMDTL | PPELGNCVSL |
| 790 | 800 | ||||
| KRSGLTVEPS | LFETLPVEVR | DKLKED |