MAML1

Mastermind-like protein 1 is a protein that in humans is encoded by the MAML1 gene.^[5][6][7]

MAML1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2F8X, 3NBN, 3V79
Identifiers
Aliases	MAML1, Mam-1, Mam1, mastermind like transcriptional coactivator 1
External IDs	OMIM: 605424; MGI: 1890504; HomoloGene: 8845; GeneCards: MAML1; OMA:MAML1 - orthologs
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q35.3 Start 179,732,822 bp[1] End 179,777,283 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 B1.3 Start 50,146,461 bp[2] End 50,183,138 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve ventricular zone ganglionic eminence gallbladder right hemisphere of cerebellum gastric mucosa left uterine tube rectum left ovary stromal cell of endometrium Top expressed in left lung lobe granulocyte external carotid artery internal carotid artery endocardial cushion vas deferens genital tubercle tail of embryo abdominal wall fossa More reference expression data BioGPS n/a
Gene ontology Molecular function peptide antigen binding transcription coactivator activity protein binding protein kinase binding Cellular component nuclear speck intracellular membrane-bounded organelle nucleoplasm nucleus MAML1-RBP-Jkappa- ICN1 complex Biological process Notch signaling pathway positive regulation of myotube differentiation atrioventricular node development regulation of transcription, DNA-templated positive regulation of muscle cell differentiation atrioventricular node cell development transcription, DNA-templated protein phosphorylation myoblast differentiation transcription initiation from RNA polymerase II promoter positive regulation of transcription by RNA polymerase II positive regulation of transcription of Notch receptor target positive regulation of Notch signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9794 103806 Ensembl ENSG00000161021 ENSMUSG00000050567 UniProt Q92585 Q6T264 RefSeq (mRNA) NM_014757 NM_175334 RefSeq (protein) NP_055572 NP_780543 NP_001388483 Location (UCSC) Chr 5: 179.73 – 179.78 Mb Chr 11: 50.15 – 50.18 Mb PubMed search [3] [4]
Wikidata
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Function

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.^[7]

Details on the activity of the N-terminal domain of Mastermind-like protein 1 may be found under MamL-1.

Interactions

MAML1 has been shown to interact with EP300^[8][9] and NOTCH1.^[5][10]