Q8VCH9
Gene name |
Lrrc3b (Lrp15) |
Protein name |
Leucine-rich repeat-containing protein 3B |
Names |
Leucine-rich repeat protein 15 |
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:218763 |
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 Q8VCH9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8VCH9-F1 | Predicted | AlphaFoldDB |
22 variants for Q8VCH9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs3389316728 | 34 | C>R | No | EVA | |
| rs3389233909 | 41 | S>Y | No | EVA | |
| rs3389305358 | 54 | N>Y | No | EVA | |
| rs3389279659 | 80 | P>H | No | EVA | |
| rs3389289651 | 86 | D>N | No | EVA | |
| rs3389308895 | 90 | L>Q | No | EVA | |
| rs3389303440 | 116 | Q>R | No | EVA | |
| rs3404546509 | 129 | H>P | No | EVA | |
| rs3404816529 | 130 | K>* | No | EVA | |
| rs3404760817 | 135 | N>Y | No | EVA | |
| rs3389305398 | 153 | L>I | No | EVA | |
| rs3389304341 | 161 | A>V | No | EVA | |
| rs3389300866 | 175 | S>* | No | EVA | |
| rs3389321387 | 181 | A>D | No | EVA | |
| rs3410685698 | 183 | R>G | No | EVA | |
| rs3389298596 | 185 | F>L | No | EVA | |
| rs3389233938 | 190 | N>K | No | EVA | |
| rs3404546531 | 218 | I>T | No | EVA | |
| rs3404008544 | 243 | P>L | No | EVA | |
| rs3404676026 | 244 | S>G | No | EVA | |
| rs3404931782 | 246 | Q>E | No | EVA | |
| rs3389298676 | 247 | K>R | No | EVA |
1 associated diseases with Q8VCH9
[MIM: 613385]: Autoimmune disease, multisystem, with facial dysmorphism (ADMFD)
A disorder characterized by organomegaly, failure to thrive, developmental delay, dysmorphic features and autoimmune inflammatory cell infiltration of the lungs, liver and gut. {ECO:0000269|PubMed:20170897}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by organomegaly, failure to thrive, developmental delay, dysmorphic features and autoimmune inflammatory cell infiltration of the lungs, liver and gut. {ECO:0000269|PubMed:20170897}. Note=The disease is caused by variants affecting the gene represented in this entry.
6 regional properties for Q8VCH9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | C2 domain | 1 - 115 | IPR000008 |
| domain | HECT domain | 548 - 903 | IPR000569 |
| domain | WW domain | 326 - 359 | IPR001202-1 |
| domain | WW domain | 358 - 391 | IPR001202-2 |
| domain | WW domain | 438 - 471 | IPR001202-3 |
| domain | WW domain | 478 - 511 | IPR001202-4 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular matrix | A structure lying external to one or more cells, which provides structural support, biochemical or biomechanical cues for cells or tissues. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| 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. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A6H789 | LRRC3B | Leucine-rich repeat-containing protein 3B | Bos taurus (Bovine) | PR |
| Q8IWK6 | ADGRA3 | Adhesion G protein-coupled receptor A3 | Homo sapiens (Human) | PR |
| Q96PB8 | LRRC3B | Leucine-rich repeat-containing protein 3B | Homo sapiens (Human) | PR |
| Q7TT36 | Adgra3 | Adhesion G protein-coupled receptor A3 | Mus musculus (Mouse) | PR |
| Q9D1T0 | Lingo1 | Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNLVDLWLSR | SLSMCLLLQS | FVLMILCFHS | ASMCPKGCLC | SSSGGLNVTC | SNANLKEIPR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DLPPETVLLY | LDSNQITSIP | NEIFKDLHQL | RVLNLSKNGI | EFIDEHAFKG | VAETLQTLDL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SDNRIQSVHK | NAFNNLKARA | RIANNPWHCD | CTLQQVLRSM | ASNHETAHNV | ICKTSVLDEH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AGRPFLNAAN | DADLCNLPKK | TTDYAMLVTM | FGWFTMVISY | VVYYVRQNQE | DARRHLEYLK |
| 250 | |||||
| SLPSRQKKAD | EPDDISTVV |