MAML1
Summary: This protein is the human homolog of mastermind, a Drosophila protein that plays a role in the Notch signaling pathway involved in cell-fate determination. There is in vitro evidence that the human homolog forms a complex with the intracellular portion of human Notch receptors and can increase expression of a Notch-induced gene. This evidence supports its proposed function as a transcriptional co-activator in the Notch signaling pathway. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| mastermind like transcriptional coactivator 1 | MIM:605424 | Ensembl:ENSG00000161021 | HGNC:HGNC:13632 | PA30569 | 5q35.3 |
GO terms in MAML1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IDA | GO:0002193 | MAML1-RBP-Jkappa- ICN1 complex |
| CC | IDA | GO:0005634 | nucleus |
| CC | IBA | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IEA | GO:0016607 | nuclear speck |
| CC | IDA | GO:0043231 | intracellular membrane-bounded organelle |
| BP | ISS | GO:0003162 | atrioventricular node development |
| BP | TAS | GO:0006367 | transcription initiation from RNA polymerase II promoter |
| BP | IDA | GO:0006468 | protein phosphorylation |
| BP | IDA | GO:0007219 | Notch signaling pathway |
| BP | TAS | GO:0007219 | Notch signaling pathway |
| BP | IBA | GO:0007221 | positive regulation of transcription of Notch receptor target |
| BP | TAS | GO:0007221 | positive regulation of transcription of Notch receptor target |
| BP | IGI | GO:0010831 | positive regulation of myotube differentiation |
| BP | IEA | GO:0045445 | myoblast differentiation |
| BP | TAS | GO:0045747 | positive regulation of Notch signaling pathway |
| BP | IDA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | ISS | GO:0060928 | atrioventricular node cell development |
| MF | IBA | GO:0003713 | transcription coactivator activity |
| MF | IDA | GO:0003713 | transcription coactivator activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0019901 | protein kinase binding |
| MF | IPI | GO:0042605 | peptide antigen binding |
Gene expression in normal tissue: MAML1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in MAML1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| pid | hes_heypathway | Notch-mediated HES/HEY network |
| pid | notch_pathway | Notch signaling pathway |
| netpath | Pathway_Notch | Notch |
| kegg | hsa04330 | Notch signaling pathway - Homo sapiens (human) |
| kegg | hsa04658 | Th1 and Th2 cell differentiation - Homo sapiens (human) |
| kegg | hsa05165 | Human papillomavirus infection - Homo sapiens (human) |
| wikipathways | WP268 | Notch Signaling Pathway |
| wikipathways | WP3845 | Canonical and Non-canonical Notch signaling |
| wikipathways | WP4242 | Notch Signaling Pathway |
| wikipathways | WP61 | Notch Signaling Pathway |
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-157118 | Signaling by NOTCH |
| reactome | R-HSA-157118 | Signaling by NOTCH |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-186712 | Regulation of beta-cell development |
| reactome | R-HSA-1912408 | Pre-NOTCH Transcription and Translation |
| reactome | R-HSA-1912408 | Pre-NOTCH Transcription and Translation |
| reactome | R-HSA-1912422 | Pre-NOTCH Expression and Processing |
| reactome | R-HSA-1912422 | Pre-NOTCH Expression and Processing |
| reactome | R-HSA-1980143 | Signaling by NOTCH1 |
| reactome | R-HSA-1980143 | Signaling by NOTCH1 |
| reactome | R-HSA-1980145 | Signaling by NOTCH2 |
| reactome | R-HSA-1980145 | Signaling by NOTCH2 |
| reactome | R-HSA-210744 | Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells |
| reactome | R-HSA-2122947 | NOTCH1 Intracellular Domain Regulates Transcription |
| reactome | R-HSA-2122947 | NOTCH1 Intracellular Domain Regulates Transcription |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-2197563 | NOTCH2 intracellular domain regulates transcription |
| reactome | R-HSA-2197563 | NOTCH2 intracellular domain regulates transcription |
| reactome | R-HSA-2644602 | Signaling by NOTCH1 PEST Domain Mutants in Cancer |
| reactome | R-HSA-2644603 | Signaling by NOTCH1 in Cancer |
| reactome | R-HSA-2644606 | Constitutive Signaling by NOTCH1 PEST Domain Mutants |
| reactome | R-HSA-2894858 | Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer |
| reactome | R-HSA-2894862 | Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants |
| reactome | R-HSA-350054 | Notch-HLH transcription pathway |
| reactome | R-HSA-5663202 | Diseases of signal transduction |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-8878159 | Transcriptional regulation by RUNX3 |
| reactome | R-HSA-8878159 | Transcriptional regulation by RUNX3 |
| reactome | R-HSA-8941856 | RUNX3 regulates NOTCH signaling |
| reactome | R-HSA-8941856 | RUNX3 regulates NOTCH signaling |
| reactome | R-HSA-9012852 | Signaling by NOTCH3 |
| reactome | R-HSA-9012852 | Signaling by NOTCH3 |
| reactome | R-HSA-9013508 | NOTCH3 Intracellular Domain Regulates Transcription |
| reactome | R-HSA-9013508 | NOTCH3 Intracellular Domain Regulates Transcription |
| reactome | R-HSA-9013694 | Signaling by NOTCH4 |
| reactome | R-HSA-9013694 | Signaling by NOTCH4 |
| reactome | R-HSA-9013695 | NOTCH4 Intracellular Domain Regulates Transcription |
| reactome | R-HSA-9013695 | NOTCH4 Intracellular Domain Regulates Transcription |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD188 | Piperlongumine | 3 |
| iGMDRD506 | Fedratinib | 3 |
| iGMDRD398 | Sepantronium | 2 |
| iGMDRD690 | PRIMA-1MET | 2 |
| iGMDRD356 | PNU-74654 | 3 |
| iGMDRD451 | Serdemetan | 2 |
| iGMDRD444 | Tivantinib | 2 |
| iGMDRD441 | TW 37 | 3 |
| iGMDRD446 | LY 2183240 | 3 |
| iGMDRD61 | Kinetin riboside | 4 |
| iGMDRD152 | 179324-69-7 | 1 |
| iGMDRD466 | Chaetocin | 3 |
| iGMDRD394 | BX-795 | 1 |
| iGMDRD634 | SCHEMBL2608041 | 3 |
| iGMDRD126 | Tipifarnib | 2 |
| iGMDRD151 | CHM-1 | 3 |
| iGMDRD554 | CHEMBL1434137 | 2 |
| iGMDRD889 | Compound 7d-cis | 2 |
| iGMDRD772 | BRD4770 | 3 |
| iGMDRD427 | ABT737 | 2 |
| iGMDRD286 | Nsc 632839 | 3 |
| iGMDRD367 | Ro 28-1675 | 2 |
| iGMDRD871 | BRD6368 | 2 |
| iGMDRD872 | BRD7137 | 3 |
| iGMDRD269 | Purmorphamine | 3 |
| iGMDRD147 | Prima-1 | 2 |
| iGMDRD246 | NPC26 | 8 |
| iGMDRD42 | Vorinostat | 3 |
| iGMDRD103 | SN-38 | 3 |
| iGMDRD220 | fumonisin B1 | 1 |
| iGMDRD121 | GMX1778 | 1 |
| iGMDRD192 | CIL56 | 1 |
| iGMDRD415 | LE-135 | 1 |
| iGMDRD351 | GW843682X | 3 |
| iGMDRD84 | Lovastatin acid | 2 |
| iGMDRD307 | Manumycin A | 3 |
| iGMDRD512 | nutlin 3 | 2 |
| iGMDRD148 | Pifithrin-mu | 2 |
| iGMDRD424 | Tamatinib | 2 |
| iGMDRD701 | NVP-AUY922 | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in MAML1
CLASSFICATION
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