MAML1 - mastermind like transcriptional coactivator 1 Gene

Homo sapiens

Also known as Mam1; Mam-1

Gene ID: 9794 | Gene type: protein coding

About MAML1

Cytogenetic location: 5q35.3 Genomic coordinates (GRCh38): 5:179,732,822-179,777,283 (from NCBI)

This gene has 3 transcripts (splice variants), 1 gene allele, 197 orthologues and 2 paralogues. Ubiquitous expression in endometrium (RPKM 9.7), ovary (RPKM 9.3) and 25 other tissues.

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]

MAML1 Products(1)

mRNA	Protein	Name
NM_014757.5	NP_055572.1	mastermind-like protein 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables peptide antigen binding	IPI IPI: Inferred from physical interaction	17317671	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11101851	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	15546612	GOA
enables transcription coactivator activity	IDA IDA: Inferred from direct assay	11101851	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in Notch signaling pathway	IDA IDA: Inferred from direct assay	11101851	GOA
involved in positive regulation of myotube differentiation	IGI IGI: Inferred from genetic interaction	16510869	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	11101851	GOA
involved in protein phosphorylation	IDA IDA: Inferred from direct assay	16510869	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of MAML1-RBP-Jkappa- ICN1 complex	IDA IDA: Inferred from direct assay	16510869	GOA
located in nucleus	IDA IDA: Inferred from direct assay	9874765	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MAML1 Protein Structure

MamL-1

0
200
400
600
800
1016 a.a.

Protein Preferred Names

Protein Names

mastermind-like protein 1

mastermind homolog

MAML1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	MAML1	Q92585	NOTCH1	Homo sapiens	P46531	X-Ray Diffraction	16530044
Intra	MAML1	Q92585	NOTCH1	Homo sapiens	P46531	Pull Down	19907488
Intra	MAML1	Q92585	NOTCH1	Homo sapiens	P46531	X-Ray Diffraction	22325781
Intra	MAML1	Q92585	NOTCH1	Homo sapiens	P46531	X-Ray Diffraction	20972443
Intra	MAML1	Q92585	NOTCH1	Homo sapiens	P46531	GMS	22325781
Intra	MAML1	Q92585	NOTCH1	Homo sapiens	P46531	Anti Tag CoIP	23022380
Intra	MAML1	Q92585	NOTCH1	Homo sapiens	P46531	Y2H	12370315
Intra	MAML1	Q92585	NOTCH1	Homo sapiens	P46531	GMS	20972443

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Juxtacortical Chondrosarcoma

Epidermodysplasia Verruciformis 1

Epidermodysplasia Verruciformis	Epidermodysplasia Verruciformis, Susceptibility To, 1
Lutz-Lewandowsky Epidermodysplasia Verruciformis	EV1
Lewandowsky-Lutz Syndrome	Ev

Adams-Oliver Syndrome

Adams Oliver Syndrome	Aos
Congenital Scalp Defects With Distal Limb Reduction Anomalies	Aplasia Cutis Congenita With Terminal Transverse Limb Defects
Congenital Scalp Defects With Distal Limb Anomalies	Limb, Scalp And Skull Defects
Limb Scalp And Skull Defects	Absence Defect Of Limbs, Scalp, And Skull

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-100431	IMR-1	Inhibitor	98.95%	Unkown
HY-RS07999	MAML1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	MAML1	VGNC	VGNC:63371
Bos taurus	MAML1	VGNC	VGNC:106812
Mus musculus	MAML1	MGD	MGI:1890504
Rattus norvegicus	MAML1	RGD	RGD:1308631
Macaca mulatta	MAML1	VGNC	VGNC:74280
Canis familiaris	MAML1	VGNC	VGNC:42939

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