| UniProt/SwissProt ID: | MBNL1_HUMAN |
| Description: | muscleblind-like splicing regulator 1 [Source:HGNC Symbol;Acc:6923] |
| Location: | chr3 q25.1 |
| Node attribute: | substrate |
| Phosphorylation site |
| Position | PhosphoPeptide | Catalytic kinase | Source |
|---|---|---|---|
| T270 | TAAAMtQSAVK | PhosphoSitePlus | |
| S272 | AAMTQsAVKSL | PhosphoSitePlus | |
| Y188 | EVCREyQRGNC | zf-CCCH | PhosphoSitePlus |
| Y224 | TVCMDyIKGRC | zf-CCCH | PhosphoSitePlus |
| S208 | AHPADsTMIDT | PhosphoSitePlus | |
| T265 | AQAAAtAAAMT | PhosphoSitePlus | |
| Dephosphorylation site |
| MBNL1_HUMAN do not have dephosphorylation site. |
| Mutation site |
| Ensembl ID | Variation | Source | Cancer name | Pubmed |
|---|---|---|---|---|
| ENSP00000282486 | S28* | TCGA | Ovarian Cancer | 21720365, 18772890 |
| ENSP00000418108 | S28* | TCGA | Ovarian Cancer | 21720365, 18772890 |
| ENSP00000282486 | S129* | COSMIC | Head and Neck Cancer | 21798893 |
| ENSP00000282486 | S28* | COSMIC | Ovarian Cancer | 21720365 |
| ENSP00000319429 | P328L | BIOMART | Neoplasms by Histologic Type | 21930507, 21930502 |
| Differential expressed protein |
| MBNL1_HUMAN is not differential expressed protein. |
| Hyperphosphorylation site |
| MBNL1_HUMAN do not have hyperphosphorylation site. |
| Direct Interaction Pair |
| Source | Target | Relationship | Resource |
|---|---|---|---|
| ARAF_HUMAN | MBNL1_HUMAN | kinase -> substrate | Robert H Newman (2013) |
| Function Annotation |
| KEGG Pathway |
| MBNL1_HUMAN is not in KEGG pathway. |
| Gene Ontology |
| GO ID | GO_Term | Evidence | Ontology |
|---|---|---|---|
| GO:0003676 | nucleic acid binding | IEA | molecular_function |
| GO:0030326 | embryonic limb morphogenesis | ISS | biological_process |
| GO:0005515 | protein binding | IPI | molecular_function |
| GO:0005634 | nucleus | IDA | cellular_component |
| GO:0000381 | regulation of alternative mRNA splicing, via splic | IEA | biological_process |
| GO:0001701 | in utero embryonic development | ISS | biological_process |
| GO:0006376 | mRNA splice site selection | IEA | biological_process |
| GO:0003725 | double-stranded RNA binding | IDA | molecular_function |
| GO:0005737 | cytoplasm | IDA | cellular_component |
| GO:0008380 | RNA splicing | IDA | biological_process |
| GO:0007519 | skeletal muscle tissue development | IEA | biological_process |
| GO:0005737 | cytoplasm | IEA | cellular_component |
| GO:0043484 | regulation of RNA splicing | IDA | biological_process |
| GO:0007399 | nervous system development | ISS | biological_process |
| GO:0000380 | alternative mRNA splicing, via spliceosome | IEA | biological_process |
| GO:0003723 | RNA binding | IDA | molecular_function |
| GO:0045445 | myoblast differentiation | ISS | biological_process |
| GO:0005634 | nucleus | IEA | cellular_component |
| GO:0008270 | zinc ion binding | IEA | molecular_function |
| GO:0010494 | cytoplasmic stress granule | IDA | cellular_component |