Q7TQ48
Gene name |
Srl |
Protein name |
Sarcalumenin |
Names |
|
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:106393 |
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 Q7TQ48
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q7TQ48-F1 | Predicted | AlphaFoldDB |
15 variants for Q7TQ48
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs46542177 | 12 | A>T | No | EVA | |
| rs3389403080 | 22 | V>* | No | EVA | |
| rs3389395131 | 24 | D>N | No | EVA | |
| rs3389397026 | 26 | S>G | No | EVA | |
| rs3389399229 | 125 | G>D | No | EVA | |
| rs3389388445 | 163 | K>R | No | EVA | |
| rs3413084324 | 180 | K>R | No | EVA | |
| rs3389390823 | 185 | V>I | No | EVA | |
| rs3389391149 | 188 | V>M | No | EVA | |
| rs3389395149 | 239 | F>Y | No | EVA | |
| rs3389377202 | 286 | R>W | No | EVA | |
| rs3389358551 | 287 | V>I | No | EVA | |
| rs3389391178 | 397 | R>H | No | EVA | |
| rs3389395093 | 404 | F>L | No | EVA | |
| rs3389412672 | 459 | T>I | No | EVA |
No associated diseases with Q7TQ48
Functions
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| sarcoplasmic reticulum lumen | The volume enclosed by the membranes of the sarcoplasmic reticulum. |
| sarcoplasmic reticulum membrane | The lipid bilayer surrounding the sarcoplasmic reticulum. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTP binding | Binding to GTP, guanosine triphosphate. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| endocytosis | A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle. |
| endosomal transport | The directed movement of substances mediated by an endosome, a membrane-bounded organelle that carries materials enclosed in the lumen or located in the endosomal membrane. |
| response to muscle activity involved in regulation of muscle adaptation | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a muscle activity stimulus. This process occurs as part of the regulation of muscle adaptation. |
| store-operated calcium entry | A calcium ion entry mechanism in the plasma membrane activated by the depletion of calcium ion from the internal calcium ion store in the endoplasmic reticulum. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| B3LF48 | EHD2 | EH domain-containing protein 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKALLLLCCF | LASLLLSGQA | EVEDASEEAP | LRDRSHIDKT | LMLNEDKPAD | DYSAVLQRLR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KIYHTSIKPL | EQSYKYNELR | QHEITDGEIT | SKPMVLFLGP | WSVGKSTMIN | YLLGLEDTRY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QLYTGAEPTT | SEFTVLMHGP | KLKTIEGIVM | AADSARSFSP | LEKFGQNFLE | KLIGIEVPHK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LLERVTFVDT | PGIIENRKQQ | ERGYPFNDVC | QWFIDRADLI | FVVFDPTKLD | VGLELEMLFR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QLKGRESQIR | IILNKADNLA | TQMLMRVYGA | LFWSLAPLIN | VTEPPRVYVS | SFWPQDYKPD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| THRELFLKEE | ISLLEDLNQV | IENRLENKIA | FIRQHAIRVR | IHALLVDRYL | QTYKDKMTFF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SDGELVFKDI | VEDPDKFYIF | KTILAKTNVS | KFDLPNREAY | KDFFGINPIS | NFKLLSQQCS |
| 430 | 440 | 450 | 460 | 470 | |
| YMGGCFLEKI | ERAITQELPS | LLGSIGLGKN | PGAPNCDKTG | CGETPKNRYK | KH |