Maml1 mastermind like transcriptional coactivator 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Maml1provided by MGI
Official Full Name: mastermind like transcriptional coactivator 1provided by MGI
Primary source: MGI:MGI:1890504
See related: Ensembl:ENSMUSG00000050567 AllianceGenome:MGI:1890504
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Mam1; Mam-1; mKIAA0200; D930008C07Rik
Summary: Enables transcription coactivator activity. Involved in atrioventricular node cell development and positive regulation of myotube differentiation. Acts upstream of or within myoblast differentiation and positive regulation of transcription of Notch receptor target. Located in nucleus. Is expressed in several structures, including branchial arch; central nervous system; genitourinary system; limb bud; and respiratory system epithelium. Orthologous to human MAML1 (mastermind like transcriptional coactivator 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in ovary adult (RPKM 11.2), thymus adult (RPKM 11.1) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 B1.3; 11 30.42 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (50146461..50183163, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (50255634..50293131, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

microRNA-193b protects against myocardial ischemia-reperfusion injury in mouse by targeting mastermind-like 1.
Title: microRNA-193b protects against myocardial ischemia-reperfusion injury in mouse by targeting mastermind-like 1.
dnMAML1 expression leads to robust precocious oligodendrocytes differentiation and premature axonal myelination in the spinal cord, possibly by upregulating Nkx2.2 and downregulating Pdgfra expression. Unexpectedly, at late embryonic stages, dnMAML1 expression dramatically increased the number of oligodendrocyte precursor cells (OPCs), indicating a stage-dependent effect of Notch signaling on OPC proliferation.
Title: Stage-dependent regulation of oligodendrocyte development and enhancement of myelin repair by dominant negative Master-mind 1 protein.
Neuron production in mouse cerebral cortex is coordinated by the MAML1.
Title: Coordination of Neuron Production in Mouse and Human Cerebral Cortex by the Homolog of Drosophila Mastermind Protein.
The present study shows a new role for Maml1 as a component of Shh signaling, which plays a crucial role in both development and tumorigenesis.
Title: Maml1 acts cooperatively with Gli proteins to regulate sonic hedgehog signaling pathway.
Similar phenotypes were observed by conditionally misexpressing a dominant negative form of MAML1 in Mitral cells ( MCs)after their migration. Furthermore, the intracellular domain of Notch1 (NICD1) was localized to nuclei of MCs. These findings suggest that Notch signaling at embryonic stages is involved in the dendritic complexity of MCs
Title: Olfactory Sensory Neurons Control Dendritic Complexity of Mitral Cells via Notch Signaling.
These observations suggest that chondrocyte maturation was impaired in MAML1(-/-) mice. MAML1 enhances the transcriptional activity of Runx2 and plays a role in bone development.
Title: MAML1 enhances the transcriptional activity of Runx2 and plays a role in bone development.
This study demonstrated that targeting Maml1-induced tumor cell senescence and differentiation may alter the tumor microenvironment and cytokine and chemokine profiles and may also promote innate and adaptive immune cell infiltration and function.
Title: A knockdown of Maml1 that results in melanoma cell senescence promotes an innate and adaptive immune response.
Maml-mediated Notch signaling plays a pivotal role in the initiation and maintenance of goblet cell differentiation for normal ocular surface morphogenesis.
Title: Mastermind-like transcriptional co-activator-mediated Notch signaling is indispensable for maintaining conjunctival epithelial identity.
Mastermind-like 1 (MamL1) and mastermind-like 3 (MamL3) are essential for Notch signaling in vivo.
Title: Mastermind-like 1 (MamL1) and mastermind-like 3 (MamL3) are essential for Notch signaling in vivo.
Data demonstrate that Mesp2 potently represses Notch signaling by inducing the destabilization of mastermind-like 1, a core regulator of this pathway.
Title: The repression of Notch signaling occurs via the destabilization of mastermind-like 1 by Mesp2 and is essential for somitogenesis.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:236566

AW743257 (e-PCR)
- UniSTS:208671

D11Sac2 (e-PCR)
- UniSTS:73120

AI644666 (e-PCR)
- UniSTS:180184

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables peptide antigen binding	ISO Inferred from Sequence Orthology more info
enables protein kinase binding	ISO Inferred from Sequence Orthology more info
enables transcription coactivator activity	IBA Inferred from Biological aspect of Ancestor more info
enables transcription coactivator activity	IDA Inferred from Direct Assay more info	PubMed
enables transcription coactivator activity	ISO Inferred from Sequence Orthology more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within Notch signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in Notch signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in Notch signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in atrioventricular node cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in myoblast differentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in positive regulation of muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of myotube differentiation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of myotube differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription of Notch receptor target	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of transcription of Notch receptor target	IGI Inferred from Genetic Interaction more info	PubMed
involved_in protein phosphorylation	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of MAML1-RBP-Jkappa- ICN1 complex	ISO Inferred from Sequence Orthology more info
located_in nuclear speck	IEA Inferred from Electronic Annotation more info
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: mastermind-like protein 1

Names: mastermind like 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.