ADHDgene Database

Hot Results

Quick Search

Keyword:
Type:

Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	MAML1
Symbol Alias	KIAA0200, Mam-1
Approved Name	mastermind-like 1 (Drosophila)
Previous Name	mastermind (drosophila)-like 1
Name Alias	mastermind homolog
Location	5q35
Position	chr5:179159851-179223512, +
External Links	HGNC: 13632 Entrez Gene: 9794 Ensembl: ENSG00000161021 UCSC: uc003mkm.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Jarick[2012]_14	chr5:178157153-180497731 (NCBI36 / hg18)	2340579	5q35.3	dup

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 19)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 19)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0006367	transcription initiation from RNA polymerase II promoter	Biological Process		42
GO:0006468	protein phosphorylation	Biological Process	IDA[16510869]	53
GO:0005654	nucleoplasm	Cellular Component		183
GO:0005730	nucleolus	Cellular Component		243
GO:0010831	positive regulation of myotube differentiation	Biological Process	IGI[16510869]	2
GO:0016607	nuclear speck	Cellular Component		34
GO:0007219	Notch signaling pathway	Biological Process	IDA[11101851]	21
GO:0010467	gene expression	Biological Process		140
GO:0002193	MAML1-RBP-Jkappa- ICN1 complex	Cellular Component	IDA[16510869]	2
GO:0005515	protein binding	Molecular Function	IPI[16510869]	910
GO:0005634	nucleus	Cellular Component		770
GO:0003162	atrioventricular node development	Biological Process		1
GO:0003713	transcription coactivator activity	Molecular Function	IDA[11101851]	52
GO:0045445	myoblast differentiation	Biological Process		2
GO:0043231	intracellular membrane-bounded organelle	Cellular Component		62
GO:0042605	peptide antigen binding	Molecular Function	IPI[17317671]	4
GO:0019901	protein kinase binding	Molecular Function	IPI[15546612]	51
GO:0060928	atrioventricular node cell development	Biological Process		1
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	Biological Process	IDA[16510869]	131

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04330	Notch signaling pathway	8	The Notch signaling pathway is an evolutionarily conserved, ...... The Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch proteins (Notch1-Notch4 in vertebrates) are single-pass receptors that are activated by the Delta (or Delta-like) and Jagged/Serrate families of membrane-bound ligands. They are transported to the plasma membrane as cleaved, but otherwise intact polypeptides. Interaction with ligand leads to two additional proteolytic cleavages that liberate the Notch intracellular domain (NICD) from the plasma membrane. The NICD translocates to the nucleus, where it forms a complex with the DNA binding protein CSL, displacing a histone deacetylase (HDAc)-co-repressor (CoR) complex from CSL. Components of an activation complex, such as MAML1 and histone acetyltransferases (HATs), are recruited to the NICD-CSL complex, leading to the transcriptional activation of Notch target genes. More...

Genes shared at least 5 GO terms with MAML1 (count: 67)

Gene Symbol	Pathway Count	Pathway List
RBPJ	9	transcription initiation from RNA polymerase II promoter; nucleoplasm; nucleolus; Notch signaling pathway; gene expression; MAML1-RBP-Jkappa- ICN1 complex; protein binding; nucleus; positive regulation of transcription from RNA polymerase II promoter;
SNW1	9	transcription initiation from RNA polymerase II promoter; nucleoplasm; nucleolus; Notch signaling pathway; gene expression; protein binding; nucleus; transcription coactivator activity; positive regulation of transcription from RNA polymerase II promoter;
MAML2	8	transcription initiation from RNA polymerase II promoter; nucleoplasm; nuclear speck; Notch signaling pathway; gene expression; nucleus; transcription coactivator activity; positive regulation of transcription from RNA polymerase II promoter;
MED1	8	transcription initiation from RNA polymerase II promoter; nucleoplasm; nucleolus; gene expression; protein binding; nucleus; transcription coactivator activity; positive regulation of transcription from RNA polymerase II promoter;
NCOA6	8	transcription initiation from RNA polymerase II promoter; nucleoplasm; nucleolus; protein binding; nucleus; transcription coactivator activity; intracellular membrane-bounded organelle; positive regulation of transcription from RNA polymerase II promoter;
MEN1	7	transcription initiation from RNA polymerase II promoter; nucleoplasm; nucleolus; gene expression; protein binding; nucleus; positive regulation of transcription from RNA polymerase II promoter;
NCOR2	7	transcription initiation from RNA polymerase II promoter; nucleoplasm; nucleolus; Notch signaling pathway; gene expression; protein binding; nucleus;
NR5A1	7	transcription initiation from RNA polymerase II promoter; nucleoplasm; gene expression; protein binding; nucleus; transcription coactivator activity; positive regulation of transcription from RNA polymerase II promoter;
PGR	7	transcription initiation from RNA polymerase II promoter; nucleoplasm; nucleolus; gene expression; protein binding; nucleus; intracellular membrane-bounded organelle;
THRAP3	7	transcription initiation from RNA polymerase II promoter; nucleolus; protein binding; nucleus; transcription coactivator activity; intracellular membrane-bounded organelle; positive regulation of transcription from RNA polymerase II promoter;
YAP1	7	transcription initiation from RNA polymerase II promoter; nucleoplasm; gene expression; protein binding; nucleus; transcription coactivator activity; positive regulation of transcription from RNA polymerase II promoter;
MAPK3	7	protein phosphorylation; nucleoplasm; nucleolus; gene expression; protein binding; nucleus; positive regulation of transcription from RNA polymerase II promoter;
PRPF6	7	nucleoplasm; nuclear speck; gene expression; protein binding; nucleus; transcription coactivator activity; positive regulation of transcription from RNA polymerase II promoter;
ESRRA	6	transcription initiation from RNA polymerase II promoter; nucleoplasm; gene expression; protein binding; nucleus; positive regulation of transcription from RNA polymerase II promoter;
MED12	6	transcription initiation from RNA polymerase II promoter; nucleoplasm; gene expression; nucleus; transcription coactivator activity; positive regulation of transcription from RNA polymerase II promoter;
MED13	6	transcription initiation from RNA polymerase II promoter; nucleoplasm; gene expression; nucleus; transcription coactivator activity; positive regulation of transcription from RNA polymerase II promoter;
MED14	6	transcription initiation from RNA polymerase II promoter; nucleoplasm; gene expression; nucleus; transcription coactivator activity; positive regulation of transcription from RNA polymerase II promoter;
MED17	6	transcription initiation from RNA polymerase II promoter; nucleoplasm; gene expression; nucleus; transcription coactivator activity; positive regulation of transcription from RNA polymerase II promoter;
MED4	6	transcription initiation from RNA polymerase II promoter; nucleoplasm; nucleolus; gene expression; protein binding; nucleus;
NCOR1	6	transcription initiation from RNA polymerase II promoter; nucleoplasm; Notch signaling pathway; gene expression; protein binding; nucleus;
NR4A2	6	transcription initiation from RNA polymerase II promoter; nucleoplasm; gene expression; protein binding; nucleus; positive regulation of transcription from RNA polymerase II promoter;
TAF10	6	transcription initiation from RNA polymerase II promoter; nucleoplasm; gene expression; protein binding; nucleus; transcription coactivator activity;
TAF13	6	transcription initiation from RNA polymerase II promoter; nucleoplasm; nucleolus; gene expression; protein binding; nucleus;
UBB	6	transcription initiation from RNA polymerase II promoter; nucleoplasm; Notch signaling pathway; gene expression; protein binding; positive regulation of transcription from RNA polymerase II promoter;
UBC	6	transcription initiation from RNA polymerase II promoter; nucleoplasm; Notch signaling pathway; gene expression; protein binding; positive regulation of transcription from RNA polymerase II promoter;
GSK3B	6	protein phosphorylation; nucleolus; protein binding; nucleus; protein kinase binding; positive regulation of transcription from RNA polymerase II promoter;
ATXN1	6	nucleoplasm; nucleolus; protein binding; nucleus; intracellular membrane-bounded organelle; positive regulation of transcription from RNA polymerase II promoter;
EFTUD2	6	nucleoplasm; nucleolus; nuclear speck; gene expression; protein binding; nucleus;
HINFP	6	nucleoplasm; nucleolus; protein binding; nucleus; transcription coactivator activity; myoblast differentiation;
PRPF4	6	nucleoplasm; nucleolus; nuclear speck; gene expression; protein binding; nucleus;
SF3A3	6	nucleoplasm; nucleolus; nuclear speck; gene expression; protein binding; nucleus;
SMARCB1	6	nucleoplasm; nucleolus; protein binding; nucleus; transcription coactivator activity; positive regulation of transcription from RNA polymerase II promoter;
U2AF1	6	nucleoplasm; nucleolus; nuclear speck; gene expression; protein binding; nucleus;
TFAP2A	6	nucleolus; protein binding; nucleus; transcription coactivator activity; intracellular membrane-bounded organelle; positive regulation of transcription from RNA polymerase II promoter;
E2F5	5	transcription initiation from RNA polymerase II promoter; nucleoplasm; gene expression; protein binding; positive regulation of transcription from RNA polymerase II promoter;
MED15	5	transcription initiation from RNA polymerase II promoter; nucleoplasm; gene expression; protein binding; nucleus;
MED16	5	transcription initiation from RNA polymerase II promoter; nucleoplasm; gene expression; nucleus; transcription coactivator activity;
MED23	5	transcription initiation from RNA polymerase II promoter; nucleoplasm; gene expression; protein binding; transcription coactivator activity;
MED30	5	transcription initiation from RNA polymerase II promoter; nucleoplasm; gene expression; protein binding; nucleus;
MED7	5	transcription initiation from RNA polymerase II promoter; nucleoplasm; gene expression; protein binding; transcription coactivator activity;
NEDD4L	5	transcription initiation from RNA polymerase II promoter; nucleoplasm; gene expression; protein binding; nucleus;
POLR2G	5	transcription initiation from RNA polymerase II promoter; protein phosphorylation; nucleoplasm; gene expression; nucleus;
RORA	5	transcription initiation from RNA polymerase II promoter; nucleoplasm; gene expression; protein binding; positive regulation of transcription from RNA polymerase II promoter;
TAF4B	5	transcription initiation from RNA polymerase II promoter; nucleoplasm; nucleolus; gene expression; nucleus;
IRF7	5	protein phosphorylation; nucleoplasm; protein binding; nucleus; positive regulation of transcription from RNA polymerase II promoter;
NEK6	5	protein phosphorylation; nuclear speck; protein binding; nucleus; protein kinase binding;
PLK1	5	protein phosphorylation; nucleoplasm; protein binding; nucleus; protein kinase binding;
RPS6KA4	5	protein phosphorylation; nucleolus; protein binding; nucleus; positive regulation of transcription from RNA polymerase II promoter;
CD2BP2	5	nucleoplasm; nuclear speck; gene expression; protein binding; nucleus;
DDX23	5	nucleoplasm; nucleolus; gene expression; protein binding; nucleus;
DGCR8	5	nucleoplasm; nucleolus; gene expression; protein binding; nucleus;
DHX9	5	nucleoplasm; nucleolus; gene expression; protein binding; nucleus;
FUS	5	nucleoplasm; nucleolus; gene expression; protein binding; nucleus;
GATA6	5	nucleoplasm; protein binding; nucleus; protein kinase binding; positive regulation of transcription from RNA polymerase II promoter;
HNRNPA2B1	5	nucleoplasm; nucleolus; gene expression; protein binding; nucleus;
HNRNPH1	5	nucleoplasm; nucleolus; gene expression; protein binding; nucleus;
PSMC3	5	nucleoplasm; gene expression; protein binding; nucleus; transcription coactivator activity;
RAD1	5	nucleoplasm; nucleolus; protein binding; nucleus; intracellular membrane-bounded organelle;
RAD9A	5	nucleoplasm; nucleolus; protein binding; nucleus; protein kinase binding;
RBM4	5	nucleoplasm; nucleolus; nuclear speck; protein binding; nucleus;
RELA	5	nucleoplasm; protein binding; nucleus; protein kinase binding; positive regulation of transcription from RNA polymerase II promoter;
RFWD2	5	nucleoplasm; nucleolus; nuclear speck; protein binding; nucleus;
SF3A1	5	nucleoplasm; nucleolus; gene expression; protein binding; nucleus;
SMC1A	5	nucleoplasm; nucleolus; gene expression; protein binding; nucleus;
SNRNP200	5	nucleoplasm; nucleolus; gene expression; protein binding; nucleus;
SSRP1	5	nucleoplasm; nucleolus; gene expression; protein binding; nucleus;
KAT5	5	nucleolus; protein binding; nucleus; transcription coactivator activity; positive regulation of transcription from RNA polymerase II promoter;

Genes shared at least 2 KEGG pathways with MAML1 (count: 0)

View in gBrowse

Region: chr5:179159851..179223512 View in gBrowse