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

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: mouse all
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Genomic context

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_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cottontail rabbit papillomavirus E6 proteins: Interaction with MAML1 and modulation of the Notch signaling pathway.
Title: Cottontail rabbit papillomavirus E6 proteins: Interaction with MAML1 and modulation of the Notch signaling pathway.
Elucidated tumorigenic role of MAML1 and TWIST1 in gastric cancer is associated with Helicobacter pylori infection.
Title: Elucidated tumorigenic role of MAML1 and TWIST1 in gastric cancer is associated with Helicobacter pylori infection.
MAML1 promotes ESCC aggressiveness through upregulation of EMT marker TWIST1.
Title: MAML1 promotes ESCC aggressiveness through upregulation of EMT marker TWIST1.
MAML1/2 promote YAP/TAZ nuclear localization and tumorigenesis.
Title: MAML1/2 promote YAP/TAZ nuclear localization and tumorigenesis.
MAML1-Dependent Notch-Responsive Genes Exhibit Differing Cofactor Requirements for Transcriptional Activation.
Title: MAML1-Dependent Notch-Responsive Genes Exhibit Differing Cofactor Requirements for Transcriptional Activation.
ZBP-89 negatively regulates self-renewal of liver cancer stem cells via suppression of Notch1 signaling pathway.
Title: ZBP-89 negatively regulates self-renewal of liver cancer stem cells via suppression of Notch1 signaling pathway.
MAML1 may be utilized for targeted therapy with a low side effect.
Title: Role of MAML1 in targeted therapy against the esophageal cancer stem cells.
Knockdown of MAML1 inhibits proliferation and induces apoptosis of T-ALL cells through SP1-dependent inactivation of TRIM59.
Title: Knockdown of MAML1 inhibits proliferation and induces apoptosis of T-cell acute lymphoblastic leukemia cells through SP1-dependent inactivation of TRIM59.
Neuron production in human 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.
Data indicated that MAML1 negatively regulates epithelial-mesenchymal transition markers expression in breast cancer cells.
Title: MAML1 regulates EMT markers expression through NOTCH-independent pathway in breast cancer cell line MCF7.

Submit: New GeneRIF Correction See all GeneRIFs (45)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Insight into genetic determinants of resting heart rate. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D5S2383 (e-PCR)
- UniSTS:65356

G60322 (e-PCR)
- UniSTS:137578

RH46179 (e-PCR)
- UniSTS:40059

SHGC-24426 (e-PCR)
- UniSTS:76429

RH25413 (e-PCR)
- UniSTS:84917

STS-N25670 (e-PCR)
- UniSTS:60887

MAML1_3517 (e-PCR)
- UniSTS:462329

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

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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.