Q8BH18
Gene name |
Tmem117 |
Protein name |
Transmembrane protein 117 |
Names |
|
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:320709 |
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 Q8BH18
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8BH18-F1 | Predicted | AlphaFoldDB |
24 variants for Q8BH18
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs3389377597 | 101 | F>I | No | EVA | |
| rs3389399704 | 119 | L>P | No | EVA | |
| rs3389399706 | 121 | I>T | No | EVA | |
| rs3389395856 | 123 | S>T | No | EVA | |
| rs3389377588 | 152 | F>Y | No | EVA | |
| rs3389383447 | 158 | V>M | No | EVA | |
| rs3389377654 | 164 | D>N | No | EVA | |
| rs3389382680 | 168 | A>T | No | EVA | |
| rs3389380026 | 184 | W>L | No | EVA | |
| rs3406827537 | 192 | W>C | No | EVA | |
| rs3406437809 | 192 | W>L | No | EVA | |
| rs3406554857 | 193 | K>Q | No | EVA | |
| rs3406555932 | 214 | V>M | No | EVA | |
| rs3389365074 | 224 | W>R | No | EVA | |
| rs3389383386 | 249 | F>L | No | EVA | |
| rs3389302045 | 250 | D>E | No | EVA | |
| rs1132309960 | 255 | M>V | No | EVA | |
| rs3389377662 | 281 | F>Y | No | EVA | |
| rs3406450709 | 287 | Q>R | No | EVA | |
| rs3389395853 | 351 | D>H | No | EVA | |
| rs3389391446 | 369 | Q>* | No | EVA | |
| rs3389374863 | 442 | H>N | No | EVA | |
| rs3389365033 | 469 | I>N | No | EVA | |
| rs47958048 | 497 | S>N | No | EVA |
No associated diseases with Q8BH18
No regional properties for Q8BH18
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q8BH18 | |||
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| integral component of membrane | The component of a 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress | The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced in response to a stimulus indicating endoplasmic reticulum (ER) stress, and ends when the execution phase of apoptosis is triggered. ER stress usually results from the accumulation of unfolded or misfolded proteins in the ER lumen. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGKDFRYYFQ | HPWSRMIVAY | LVIFFNFLIF | AEDPVSHSQT | EANVIVVGNC | FSFVTNKYPR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GVGWRILKVL | LWLLAILIGL | IAGKFLFHQR | LFGQLLRLKM | FREDHGSWMT | MFFSTILFLF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IFSHIYNTIL | LMDGNMGAYL | ITDYMGIRNE | SFMKLAAVGT | WMGDFVTAWM | VTDMMLQDKP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YPDWGKSARA | FWKKGNVRII | LFWTVLFTLT | SVVVLVITTD | WISWDKLNRG | FLPSDEVSRA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FLASFILVFD | LLIVMQDWEF | PHFMGDVDVN | LPGLHTPHMQ | FKIPFFQKIF | KEEYRIHITG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KWFNYGIIFL | VLILDLNMWK | NQIFYKPHEY | GQYIGPGQKI | YTVKDSESLK | DLNRTKLSWE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| WRSNHTNPQT | NKTYVEGDMF | LHSRFIGASL | DVKCLAFVPS | LIAFVWFGFF | IWFFGRFLKN |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EQGMENQDKT | YTRMKRKSPS | EHSKDMGITR | ENTQVSVEDP | LNDPALVCIR | SDFNEIVYKS |
| 490 | 500 | 510 | |||
| SHLTSENLSL | HLKESTSEVE | AEQEPAASQR | MRTN |