ADHDgene Database

Gene Report

Basic Info

Approved Symbol	BACE1
Previous Symbol	BACE
Approved Name	beta-site APP-cleaving enzyme 1
Previous Name	beta-site APP-cleaving enzyme
Location	11q23-q24
Position	chr11:117156402-117186975, -
External Links	HGNC: 933 Entrez Gene: 23621 Ensembl: ENSG00000186318 UCSC: uc001pqz.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
11q	chr11:53700000-135006516	2 (1/1/0)

Gene related GO terms (count: 15)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0006508	proteolysis	Biological Process	IDA[10531052]	102
GO:0005887	integral to plasma membrane	Cellular Component	IDA[12586838]	220
GO:0005802	trans-Golgi network	Cellular Component	IDA[11466313]	28
GO:0005794	Golgi apparatus	Cellular Component	IDA[12586838]	157
GO:0016021	integral to membrane	Cellular Component	NAS[10531052]	845
GO:0009986	cell surface	Cellular Component		70
GO:0008798	beta-aspartyl-peptidase activity	Molecular Function	TAS[10591214]	2
GO:0006509	membrane protein ectodomain proteolysis	Biological Process	TAS[12354787]	3
GO:0005783	endoplasmic reticulum	Cellular Component		100
GO:0005768	endosome	Cellular Component	IDA[10531052]	27
GO:0004190	aspartic-type endopeptidase activity	Molecular Function	IDA[10531052]	4
GO:0019899	enzyme binding	Molecular Function	IPI[12586838]	47
GO:0030424	axon	Cellular Component		35
GO:0030659	cytoplasmic vesicle membrane	Cellular Component		18
GO:0050435	beta-amyloid metabolic process	Biological Process	IDA[15080893]	1

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa05010	Alzheimer's disease	40	Alzheimer's disease (AD) is a chronic disorder that slowly d...... Alzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-beta (Abeta), a major component of senile plaques, has various pathological effects on cell and organelle function. The extracellular Abeta oligomers may activate caspases through activation of cell surface death receptors. Alternatively, intracellular Abeta may contribute to pathology by facilitating tau hyper-phosphorylation, disrupting mitochondria function, and triggering calcium dysfunction. To date genetic studies have revealed four genes that may be linked to autosomal dominant or familial early onset AD (FAD). These four genes include: amyloid precursor protein (APP), presenilin 1 (PS1), presenilin 2 (PS2) and apolipoprotein E (ApoE). All mutations associated with APP and PS proteins can lead to an increase in the production of Abeta peptides, specfically the more amyloidogenic form, Abeta42. FAD-linked PS1 mutation downregulates the unfolded protein response and leads to vulnerability to ER stress. More...

Genes shared at least 5 GO terms with BACE1 (count: 3)

Gene Symbol	Pathway Count	Pathway List
YKT6	5	integral to plasma membrane; Golgi apparatus; endoplasmic reticulum; endosome; cytoplasmic vesicle membrane;
CNTNAP2	5	Golgi apparatus; integral to membrane; cell surface; enzyme binding; axon;
SORT1	5	Golgi apparatus; integral to membrane; cell surface; endosome; enzyme binding;

Genes shared at least 2 KEGG pathways with BACE1 (count: 0)

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Region: chr11:117156402..117186975 View in gBrowse