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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) Band 5q35.3 Start 179,732,822 bp End 179,777,283 bp
Gene location (Mouse) Chr. Chromosome 11 (mouse) Band 11|11 B1.3 Start 50,146,461 bp End 50,183,138 bp
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
Wikidata
View/Edit Human View/Edit Mouse

Mastermind-like protein 1 is a protein that in humans is encoded by the MAML1 gene.

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.

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 and NOTCH1.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000161021 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000050567 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ Wu L, Aster JC, Blacklow SC, Lake R, Artavanis-Tsakonas S, Griffin JD (Dec 2000). "MAML1, a human homologue of Drosophila mastermind, is a transcriptional co-activator for NOTCH receptors". Nat Genet. 26 (4): 484–9. doi:10.1038/82644. PMID 11101851. S2CID 23335042.
6. Kitagawa M, Oyama T, Kawashima T, Yedvobnick B, Kumar A, Matsuno K, Harigaya K (Jun 2001). "A human protein with sequence similarity to Drosophila mastermind coordinates the nuclear form of notch and a CSL protein to build a transcriptional activator complex on target promoters". Mol Cell Biol. 21 (13): 4337–46. doi:10.1128/MCB.21.13.4337-4346.2001. PMC 87094. PMID 11390662.
7. ^ "Entrez Gene: MAML1 mastermind-like 1 (Drosophila)".
8. Wallberg AE, Pedersen K, Lendahl U, Roeder RG (Nov 2002). "p300 and PCAF act cooperatively to mediate transcriptional activation from chromatin templates by notch intracellular domains in vitro". Mol. Cell. Biol. 22 (22): 7812–9. doi:10.1128/MCB.22.22.7812-7819.2002. PMC 134732. PMID 12391150.
9. Fryer CJ, Lamar E, Turbachova I, Kintner C, Jones KA (Jun 2002). "Mastermind mediates chromatin-specific transcription and turnover of the Notch enhancer complex". Genes Dev. 16 (11): 1397–411. doi:10.1101/gad.991602. PMC 186317. PMID 12050117.
10. Wu L, Sun T, Kobayashi K, Gao P, Griffin JD (Nov 2002). "Identification of a family of mastermind-like transcriptional coactivators for mammalian notch receptors". Mol. Cell. Biol. 22 (21): 7688–700. doi:10.1128/MCB.22.21.7688-7700.2002. PMC 135662. PMID 12370315.

Further reading

• Alves-Guerra MC, Ronchini C, Capobianco AJ (2007). "Mastermind-like 1 Is a specific coactivator of beta-catenin transcription activation and is essential for colon carcinoma cell survival". Cancer Res. 67 (18): 8690–8. doi:10.1158/0008-5472.CAN-07-1720. PMID 17875709.
• Zhao Y, Katzman RB, Delmolino LM, Bhat I, Zhang Y, Gurumurthy CB, Germaniuk-Kurowska A, Reddi HV, Solomon A, Zeng MS, Kung A, Ma H, Gao Q, Dimri G, Stanculescu A, Miele L, Wu L, Griffin JD, Wazer DE, Band H, Band V (2007). "The notch regulator MAML1 interacts with p53 and functions as a coactivator". J. Biol. Chem. 282 (16): 11969–81. doi:10.1074/jbc.M608974200. PMID 17317671.
• Nam Y, Sliz P, Song L, Aster JC, Blacklow SC (2006). "Structural basis for cooperativity in recruitment of MAML coactivators to Notch transcription complexes". Cell. 124 (5): 973–83. doi:10.1016/j.cell.2005.12.037. PMID 16530044. S2CID 17809522.
• Fryer CJ, White JB, Jones KA (2005). "Mastermind recruits CycC:CDK8 to phosphorylate the Notch ICD and coordinate activation with turnover". Mol. Cell. 16 (4): 509–20. doi:10.1016/j.molcel.2004.10.014. PMID 15546612.
• Nam Y, Weng AP, Aster JC, Blacklow SC (2003). "Structural requirements for assembly of the CSL.intracellular Notch1.Mastermind-like 1 transcriptional activation complex". J. Biol. Chem. 278 (23): 21232–9. doi:10.1074/jbc.M301567200. PMID 12644465.
• Wallberg AE, Pedersen K, Lendahl U, Roeder RG (2002). "p300 and PCAF act cooperatively to mediate transcriptional activation from chromatin templates by notch intracellular domains in vitro". Mol. Cell. Biol. 22 (22): 7812–9. doi:10.1128/MCB.22.22.7812-7819.2002. PMC 134732. PMID 12391150.
• Lin SE, Oyama T, Nagase T, Harigaya K, Kitagawa M (2003). "Identification of new human mastermind proteins defines a family that consists of positive regulators for notch signaling". J. Biol. Chem. 277 (52): 50612–20. doi:10.1074/jbc.M209529200. PMID 12386158.
• Fryer CJ, Lamar E, Turbachova I, Kintner C, Jones KA (2002). "Mastermind mediates chromatin-specific transcription and turnover of the Notch enhancer complex". Genes Dev. 16 (11): 1397–411. doi:10.1101/gad.991602. PMC 186317. PMID 12050117.
• Wu G, Lyapina S, Das I, Li J, Gurney M, Pauley A, Chui I, Deshaies RJ, Kitajewski J (2001). "SEL-10 is an inhibitor of notch signaling that targets notch for ubiquitin-mediated protein degradation". Mol. Cell. Biol. 21 (21): 7403–15. doi:10.1128/MCB.21.21.7403-7415.2001. PMC 99913. PMID 11585921.

• Genes on human chromosome 5