| UniProt/SwissProt ID: | MEFV_HUMAN |
| Description: | Mediterranean fever [Source:HGNC Symbol;Acc:6998] |
| Location: | chr16 p13.3 |
| Node attribute: | gene |
| Phosphorylation site |
| Position | PhosphoPeptide | Catalytic kinase | Source |
|---|---|---|---|
| Y741 | ARSHIyTFASC | SPRY | PhosphoSitePlus |
| S11 | SDHLLsTLEEL | PYRIN | PhosphoSitePlus |
| S6 | MAKTPsDHLLS | PYRIN | PhosphoSitePlus |
| S273 | AANLDsATEPR | PhosphoSitePlus | |
| S242 | KMRPRsLEVTI | PhosphoSitePlus | |
| Y732 | GSISFyNVTAR | SPRY | PhosphoSitePlus |
| S208 | LRRNAsSAGRL | PhosphoSitePlus | |
| T672 | LGACKtSISRK | SPRY | PhosphoSitePlus |
| S209 | RRNASsAGRLQ | PhosphoSitePlus | |
| T12 | DHLLStLEELV | PYRIN | PhosphoSitePlus |
| T267 | TLEEKtAANLD | PhosphoSitePlus | |
| S673 | GACKTsISRKG | SPRY | PhosphoSitePlus |
| Dephosphorylation site |
| MEFV_HUMAN do not have dephosphorylation site. |
| Mutation site |
| Ensembl ID | Variation | Source | Cancer name | Pubmed |
|---|---|---|---|---|
| ENSP00000219596 | D505N | COSMIC | Melanoma | 21499247 | ENSP00000219596 | H739P | COSMIC | Ovarian Cancer | 21720365 | ENSP00000219596 | E456K | BIOMART | Breast Cancer | 21930507, 21930502 | ENSP00000219596 | S312I | COSMIC | Ovarian Cancer | 21720365 | ENSP00000219596 | R348H | COSMIC | Ovarian Cancer | 21720365 | ENSP00000219596 | W525* | COSMIC | Skin Cancer | 21984974 | ENSP00000219596 | R204C | COSMIC | Central Nervous System Neoplasms | 18772396 | ENSP00000219596 | G660* | COSMIC | Lung Cancer | ENSP00000219596 | R537K | BIOMART | Breast Cancer | 21930507, 21930502 |
| Differential expressed protein |
| MEFV_HUMAN is not differential expressed protein. |
| Hyperphosphorylation site |
| MEFV_HUMAN do not have hyperphosphorylation site. |
| Direct Interaction Pair |
| Source | Target | Relationship | Resource |
|---|---|---|---|
| TF65_HUMAN | MEFV_HUMAN | TF -> target gene | TRANSFAC |
| CEBPB_HUMAN | MEFV_HUMAN | TF -> target gene | TRANSFAC |
| Function Annotation |
| KEGG Pathway |
| MEFV_HUMAN is not in KEGG pathway. |
| Gene Ontology |
| GO ID | GO_Term | Evidence | Ontology |
|---|---|---|---|
| GO:0005829 | cytosol | TAS | cellular_component |
| GO:0006954 | inflammatory response | IDA | biological_process |
| GO:2001056 | positive regulation of cysteine-type endopeptidase | IDA | biological_process |
| GO:0032691 | negative regulation of interleukin-1 beta producti | IMP | biological_process |
| GO:0003779 | actin binding | IDA | molecular_function |
| GO:0045087 | innate immune response | TAS | biological_process |
| GO:0005874 | microtubule | IEA | cellular_component |
| GO:0005622 | intracellular | IEA | cellular_component |
| GO:0050728 | negative regulation of inflammatory response | IMP | biological_process |
| GO:0005634 | nucleus | IDA | cellular_component |
| GO:0005875 | microtubule associated complex | IDA | cellular_component |
| GO:0071641 | negative regulation of macrophage inflammatory pro | IMP | biological_process |
| GO:0035872 | nucleotide-binding domain, leucine rich repeat con | TAS | biological_process |
| GO:0008270 | zinc ion binding | NAS | molecular_function |
| GO:0032695 | negative regulation of interleukin-12 production | IMP | biological_process |
| GO:0005515 | protein binding | IEA | molecular_function |