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

Gene ID: 9794, updated on 22-Mar-2020

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

Genomic context

See MAML1 in Genome Data Viewer
Location:
5q35.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (179732822..179777283)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (179159833..179208035)

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
peptide antigen binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription coactivator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription coactivator activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
Notch signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
Notch signaling pathway TAS
Traceable Author Statement
more info
 
atrioventricular node cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
atrioventricular node development ISS
Inferred from Sequence or Structural Similarity
more info
 
myoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of Notch signaling pathway TAS
Traceable Author Statement
more info
 
positive regulation of myotube differentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription of Notch receptor target IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription of Notch receptor target TAS
Traceable Author Statement
more info
 
protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
MAML1-RBP-Jkappa- ICN1 complex IDA
Inferred from Direct Assay
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nuclear speck IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
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)

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.

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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