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

    Gene ID: 103806, updated on 4-Jan-2025

    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 several processes, including atrioventricular node cell development; positive regulation of myotube differentiation; and positive regulation of transcription by RNA polymerase II. Acts upstream of or within positive regulation of transcription of Notch receptor target. Located in nucleus. Is expressed in several structures, including branchial arch; genitourinary system; limb bud; neural ectoderm; and respiratory system epithelium. Orthologous to human MAML1 (mastermind like transcriptional coactivator 1). [provided by Alliance of Genome Resources, Jan 2025]
    Expression
    Ubiquitous expression in ovary adult (RPKM 11.2), thymus adult (RPKM 11.1) and 28 other tissues See more
    Orthologs
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    Genomic context

    See Maml1 in Genome Data Viewer
    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_000077.7Genomic Context describing neighboring genes Neighboring gene mannoside acetylglucosaminyltransferase 4, isoenzyme B Neighboring gene microRNA 6919 Neighboring gene leukotriene C4 synthase Neighboring gene STARR-seq mESC enhancer starr_29394 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:50105936-50106045 Neighboring gene STARR-seq mESC enhancer starr_29397 Neighboring gene calnexin Neighboring gene STARR-seq mESC enhancer starr_29398 Neighboring gene STARR-positive B cell enhancer ABC_E1417 Neighboring gene predicted gene, 46280

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables peptide antigen binding  
    enables peptide antigen binding  
    enables protein kinase binding  
    enables protein kinase binding  
    enables transcription coactivator activity  
    enables transcription coactivator activity PubMed 
    enables transcription coactivator activity PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within Notch signaling pathway PubMed 
    involved_in Notch signaling pathway PubMed 
    involved_in Notch signaling pathway  
    involved_in Notch signaling pathway PubMed 
    involved_in atrioventricular node cell development PubMed 
    involved_in myoblast differentiation PubMed 
    involved_in positive regulation of muscle cell differentiation PubMed 
    involved_in positive regulation of myotube differentiation PubMed 
    involved_in positive regulation of myotube differentiation  
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II PubMed 
    involved_in positive regulation of transcription by RNA polymerase II PubMed 
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II PubMed 
    involved_in positive regulation of transcription by RNA polymerase II  
    involved_in positive regulation of transcription of Notch receptor target  
    acts_upstream_of_or_within positive regulation of transcription of Notch receptor target PubMed 
    involved_in protein phosphorylation  
    Component Evidence Code Pubs
    part_of MAML1-RBP-Jkappa- ICN1 complex  
    part_of MAML1-RBP-Jkappa- ICN1 complex  
    located_in nuclear speck  
    is_active_in nucleoplasm  
    located_in nucleoplasm  
    located_in nucleus PubMed 
    located_in nucleus PubMed 

    General protein information

    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.

    mRNA and Protein(s)

    1. NM_001401554.1NP_001388483.1  mastermind-like protein 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL646002
    2. NM_175334.3NP_780543.2  mastermind-like protein 1 isoform 2

      See identical proteins and their annotated locations for NP_780543.2

      Status: VALIDATED

      Source sequence(s)
      AI509152, AK129088, BC058658, BC094599
      Consensus CDS
      CCDS24632.2
      UniProtKB/Swiss-Prot
      Q505D8, Q5SUC2, Q6PDK3, Q6T264, Q6ZQG5, Q8BIU5, Q8R3T0
      Related
      ENSMUSP00000059210.5, ENSMUST00000059458.5
      Conserved Domains (2) summary
      pfam03153
      Location:278444
      TFIIA; Transcription factor IIA, alpha/beta subunit
      pfam09596
      Location:1471
      MamL-1; MamL-1 domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      50146461..50183163 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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