Q8K0U3
Gene name |
Tmem17 |
Protein name |
Transmembrane protein 17 |
Names |
|
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:103765 |
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 Q8K0U3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8K0U3-F1 | Predicted | AlphaFoldDB |
7 variants for Q8K0U3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs3389156729 | 63 | V>M | No | EVA | |
| rs216804840 | 81 | V>I | No | EVA | |
| rs3389151730 | 104 | Q>R | No | EVA | |
| rs3389144086 | 131 | N>T | No | EVA | |
| rs240356723 | 188 | V>I | No | EVA | |
| rs3389155865 | 193 | Q>H | No | EVA | |
| rs3389146282 | 195 | T>M | No | EVA |
No associated diseases with Q8K0U3
No regional properties for Q8K0U3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q8K0U3 | |||
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| ciliary membrane | The portion of the plasma membrane surrounding a cilium. |
| ciliary transition zone | A region of the cilium between the basal body and proximal segment that is characterized by Y-shaped assemblages that connect axonemal microtubules to the ciliary membrane. The ciliary transition zone appears to function as a gate that controls ciliary membrane composition and separates the cytosol from the ciliary plasm. |
| 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| MKS complex | A protein complex that is located at the ciliary transition zone and consists of several proteins some of which are membrane bound. Acts as an organiser of transition zone inner structure, specifically the Y-shaped links, in conjunction with the NPHP complex. The MKS complex also acts as part of the selective barrier that prevents diffusion of proteins between the ciliary cytoplasm and cellular cytoplasm as well as between the ciliary membrane and plasma membrane. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| cilium assembly | The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. |
| non-motile cilium assembly | The aggregation, arrangement and bonding together of a set of components to form a non-motile cilium. |
| smoothened signaling pathway | The series of molecular signals generated as a consequence of activation of the transmembrane protein Smoothened. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MELPDPVRQR | LSNLSLTVFG | DSSRTGPESS | DAADNEMVSS | LALQMSLYFN | SYFFPLWWVS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| CIVMLHLKYS | ILPDYYKFIV | VTVVILITLI | EAIRLYLGCM | GNLQEKVPEL | AGFWLLSLLL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QLPLILFLLL | NDGLRNLPLE | KAIHIIFTIF | LTFQVISAFL | TLKKMVNQLA | ARFHLQDFDQ |
| 190 | |||||
| LSSSSAAVRR | VRQCTEEL |