Q8LE58
Gene name |
CHMP1A |
Protein name |
ESCRT-related protein CHMP1A |
Names |
Protein CHARGED MULTIVESICULAR BODY PROTEIN 1A, Protein CHROMATIN MODIFYING PROTEIN 1A, Vacuolar protein-sorting-associated protein 46.1 |
Species |
Arabidopsis thaliana (Mouse-ear cress) |
KEGG Pathway |
ath:AT1G17730 |
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 Q8LE58
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8LE58-F1 | Predicted | AlphaFoldDB |
10 variants for Q8LE58
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| tmp_1_6099275_G_C | 22 | Q>H | No | 1000Genomes | |
| tmp_1_6099337_T_C | 43 | I>T | No | 1000Genomes | |
| tmp_1_6099387_C_T | 60 | R>C | No | 1000Genomes | |
| tmp_1_6099448_C_A | 80 | A>D | No | 1000Genomes | |
| ENSVATH00029587 | 80 | A>S | No | 1000Genomes | |
| tmp_1_6099489_T_G | 94 | S>A | No | 1000Genomes | |
| ENSVATH13915564 | 102 | L>I | No | 1000Genomes | |
| tmp_1_6100059_A_T | 173 | Q>L | No | 1000Genomes | |
| ENSVATH13915596 | 185 | E>K | No | 1000Genomes | |
| tmp_1_6100103_G_A | 188 | E>K | No | 1000Genomes |
4 associated diseases with Q8LE58
[MIM: 601665]: Obesity (OBESITY)
A condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat. {ECO:0000269|PubMed:9753710}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.
[MIM: 604367]: Lipodystrophy, familial partial, 3 (FPLD3)
A form of lipodystrophy characterized by marked loss of subcutaneous fat from the extremities. Facial adipose tissue may be increased, decreased or normal. Affected individuals show an increased preponderance of insulin resistance, diabetes mellitus and dyslipidemia. {ECO:0000269|PubMed:11788685, ECO:0000269|PubMed:12453919}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 137800]: Glioma 1 (GLM1)
Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. {ECO:0000269|PubMed:10851250}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry. Polymorphic PPARG alleles have been found to be significantly over-represented among a cohort of American patients with sporadic glioblastoma multiforme suggesting a possible contribution to disease susceptibility.
Without disease ID
- A condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat. {ECO:0000269|PubMed:9753710}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.
- A form of lipodystrophy characterized by marked loss of subcutaneous fat from the extremities. Facial adipose tissue may be increased, decreased or normal. Affected individuals show an increased preponderance of insulin resistance, diabetes mellitus and dyslipidemia. {ECO:0000269|PubMed:11788685, ECO:0000269|PubMed:12453919}. Note=The disease is caused by variants affecting the gene represented in this entry.
- Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. {ECO:0000269|PubMed:10851250}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry. Polymorphic PPARG alleles have been found to be significantly over-represented among a cohort of American patients with sporadic glioblastoma multiforme suggesting a possible contribution to disease susceptibility.
4 regional properties for Q8LE58
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| ESCRT III complex | A complex with membrane scission activity that plays a major role in many processes where membranes are remodelled - including endosomal transport (vesicle budding), nuclear envelope organisation (membrane closure, mitotic bridge cleavage), and cytokinesis (abscission). |
| multivesicular body | A type of endosome in which regions of the limiting endosomal membrane invaginate to form internal vesicles; membrane proteins that enter the internal vesicles are sequestered from the cytoplasm. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| autophagy | The cellular catabolic process in which cells digest parts of their own cytoplasm; allows for both recycling of macromolecular constituents under conditions of cellular stress and remodeling the intracellular structure for cell differentiation. |
| embryo development ending in seed dormancy | The process whose specific outcome is the progression of the embryo over time, from zygote formation to the end of seed dormancy. An example of this process is found in Arabidopsis thaliana. |
| embryonic axis specification | The establishment, maintenance and elaboration of a pattern along a line or a point in an embryo. |
| endosome transport via multivesicular body sorting pathway | The directed movement of substances from endosomes to lysosomes or vacuoles by a pathway in which molecules are sorted into multivesicular bodies, which then fuse with the target compartment. |
| late endosome to vacuole transport | The directed movement of substances from late endosomes to the vacuole. In yeast, after transport to the prevacuolar compartment, endocytic content is delivered to the late endosome and on to the vacuole. This pathway is analogous to endosome to lysosome transport. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| seedling development | The process whose specific outcome is the progression of the seedling over time, beginning with seed germination and ending when the first adult leaves emerge. |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5E994 | CHMP1B | Charged multivesicular body protein 1b | Bos taurus (Bovine) | PR |
| Q5ZKX1 | CHMP1B | Charged multivesicular body protein 1b | Gallus gallus (Chicken) | PR |
| Q7LBR1 | CHMP1B | Charged multivesicular body protein 1b | Homo sapiens (Human) | PR |
| Q9CQD4 | Chmp1b2 | Charged multivesicular body protein 1b-2 | Mus musculus (Mouse) | PR |
| Q99LU0 | Chmp1b1 | Charged multivesicular body protein 1b-1 | Mus musculus (Mouse) | PR |
| Q84VG1 | CHMP1 | ESCRT-related protein CHMP1 | Oryza sativa subsp japonica (Rice) | PR |
| Q9SSM4 | CHMP1B | ESCRT-related protein CHMP1B | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SKI2 | VPS2.1 | Vacuolar protein sorting-associated protein 2 homolog 1 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q6DF27 | chmp1b | Charged multivesicular body protein 1b | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q7ZVB1 | chmp1b | Charged multivesicular body protein 1b | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGNTDKLMNQ | IFELKFTSKS | LQRQARKCEK | EERSEKLKVK | KAIEKGNMDG | ARIYAENAIR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KRSEQMNYLR | LSSRLDAVVA | RLDTQAKMAT | ITKSMTNIVK | SLESSLTTGN | LQKMSETMDS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FEKQFVNMEV | QAEFMDNAMA | GSTSLSTPEG | EVNSLMQQVA | DDYGLEVSVG | LPQPAGHAIP |
| 190 | 200 | ||||
| TKTEEKVEED | DLTRRLAELK | ARG |