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

Gene ID: 9794, updated on 13-Apr-2025

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; AllianceGenome:HGNC:13632
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
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Genomic context

See MAML1 in Genome Data Viewer
Location:
5q35.3
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (179732822..179777283)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (180288007..180332482)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (179159823..179204284)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:179105237-179105852 Neighboring gene chibby family member 3 Neighboring gene calnexin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23756 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16731 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16732 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23757 Neighboring gene high mobility group box 3 pseudogene 22 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr5:179131736-179132236 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr5:179132237-179132737 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23758 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16733 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:179160227-179160727 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:179176749-179177249 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23759 Neighboring gene MPRA-validated peak5609 silencer Neighboring gene NADH:ubiquinone oxidoreductase subunit A12 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:179220175-179220802 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16735 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:179222110-179222782 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16737 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:179223416-179223627 Neighboring gene leukotriene C4 synthase

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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

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
 
enables transcription coactivator activity IDA
Inferred from Direct Assay
more info
PubMed 
enables transcription coactivator activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in Notch signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in atrioventricular node cell development IEA
Inferred from Electronic Annotation
more info
 
involved_in atrioventricular node cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in atrioventricular node development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in myoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of myotube differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of myotube differentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in 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 IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
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 IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription of Notch receptor target IEA
Inferred from Electronic Annotation
more info
 
involved_in protein phosphorylation 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 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 IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
mastermind-like protein 1
Names
mastermind homolog
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.

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, Q9NZ12
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

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

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_016107298.1 Reference GRCh38.p14 PATCHES

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    180288007..180332482
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)