Gene Report

Basic Information

Approved Symbol	MCPH1
Approved Name	microcephalin 1
Previous Name	microcephaly, primary autosomal recessive 1
Symbol Alias	FLJ12847, BRIT1
Name Alias	BRCT-repeat inhibitor of TERT expression 1
Location	8p23.1
Position	chr8:6264113-6501140 (+)
External Links	Entrez Gene: 79648 Ensembl: ENSG00000147316 UCSC: uc003wqi.3 HGNC ID: 6954
No. of Studies (Positive/Negative)	1(1/0)
Type	Literature-origin

Positive relationships between MCPH1 and MDD (count: 0)

Positive relationships between MCPH1 and other components at different levels (count: 1)

Genetic/epigenetic locus					Protein and other molecule			Cell and molecular pathway			Neural system			Cognition and behavior		Symptoms and signs			Environment

Name in Literature	Level	Approved Name (Name in Literature)	Type	Reference	Research Type	Statistical Result	Relation Description	All
Name in Literature	Related Components
Mcph1		Histone-lysine N-methyltransferase SETDB1(Setdb1 (Set domain, bifurcated 1))	protein	Jiang Y, 2010	animal model		Gene was occupied by Setdb1 in neuron Gene was occupied by Setdb1 in neuron

Positive relationship network of MCPH1 in MK4MDD

Network loading ...

Note:
1. The different color of the nodes denotes the level of the nodes.

Genetic/Epigenetic Locus	Protein and Other Molecule	Cell and Molecular Pathway	Neural System	Cognition and Behavior	Symptoms and Signs	Environment	MDD

2. Besides the component related relationships from literature, gene mapped protein and protein mapped gene are also shown in the network. If the mapped gene or protein is not from literature, square node would be used instead of Circle node. Accordingly, the relationship is marked with dot line.
2. User can drag the nodes to rearrange the layout of the network. Click the node will enter the report page of the node. Right-click will show also the menus to link to the report page of the node and remove the node and related edges. Hover the node will show the level of the node and hover the edge will show the evidence/description of the edge.
3. The network is generated using Cytoscape Web

Negative relationships between MCPH1 and MDD (count: 0)

Negative relationships between MCPH1 and other components at different levels (count: 0)

MCPH1 related SNPs in MK4MDD (count: 0)

MCPH1 related proteins in MK4MDD (count: 1)

Approved Name	UniportKB	No. of Studies (Positive/Negative)	Source
Microcephalin	Q8NEM0	0(0/0)	Gene mapped

MCPH1 related GO terms (count: 4)

ID	Name	Type	Evidence
Gene mapped GO terms
GO:0043549	regulation of kinase activity	biological process	IEA
GO:0010468	regulation of gene expression	biological process	IEA
GO:0005815	microtubule organizing center	cellular component	IEA
GO:0005737	cytoplasm	cellular component	IEA

MCPH1 related KEGG pathways (count: 0)

MCPH1 related BioCarta pathways (count: 0)

MCPH1 related Reactome pathways (count: 0)

MCPH1 related interactors from protein-protein interaction data in HPRD (count: 0)

Gene Report

Gene mapped GO terms