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    MAML1 mastermind like transcriptional coactivator 1 [ Homo sapiens (human) ]

    Gene ID: 9794, updated on 23-Jan-2022

    Summary

    Official Symbol
    MAML1provided by HGNC
    Official Full Name
    mastermind like transcriptional coactivator 1provided by HGNC
    Primary source
    HGNC:HGNC:13632
    See related
    Ensembl:ENSG00000161021 MIM:605424
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Mam1; Mam-1
    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]
    Expression
    Ubiquitous expression in endometrium (RPKM 9.7), ovary (RPKM 9.3) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See MAML1 in Genome Data Viewer
    Location:
    5q35.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (179732822..179777283)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (179159823..179204284)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene chibby family member 3 Neighboring gene calnexin Neighboring gene high mobility group box 3 pseudogene 22 Neighboring gene NADH:ubiquinone oxidoreductase subunit A12 pseudogene Neighboring gene leukotriene C4 synthase

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ53540, KIAA0200

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables peptide antigen binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transcription coactivator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables transcription coactivator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of MAML1-RBP-Jkappa- ICN1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    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
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    mastermind-like protein 1
    Names
    mastermind homolog
    mastermind-like 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_046922.1 RefSeqGene

      Range
      4973..49434
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014757.5NP_055572.1  mastermind-like protein 1

      See identical proteins and their annotated locations for NP_055572.1

      Status: REVIEWED

      Source sequence(s)
      AA975821, AC113426, AF221759, D83785
      Consensus CDS
      CCDS34315.1
      UniProtKB/Swiss-Prot
      Q92585
      Related
      ENSP00000292599.3, ENST00000292599.4
      Conserved Domains (2) summary
      pfam03153
      Location:271439
      TFIIA; Transcription factor IIA, alpha/beta subunit
      pfam09596
      Location:1471
      MamL-1; MamL-1 domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      179732822..179777283
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 PATCHES

    Genomic

    1. NW_016107298.1 Reference GRCh38.p13 PATCHES

      Range
      498402..542877
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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