BACE1 (beta-secretase 1)

2014-06-01 Affiliation

Identity

HGNC

BACE1

LOCATION

11q23.3

LOCUSID

23621

ALIAS

ASP2,BACE,HSPC104

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 23621
MIM: 604252
HGNC: 933
Ensembl: ENSG00000186318

Variants:

dbSNP: 23621
ClinVar: 23621
TCGA: ENSG00000186318
COSMIC: BACE1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000186318	ENST00000313005	P56817
ENSG00000186318	ENST00000313005	A0A024R3D7
ENSG00000186318	ENST00000392937	P56817
ENSG00000186318	ENST00000392937	B7Z3Z4
ENSG00000186318	ENST00000428381	P56817
ENSG00000186318	ENST00000428381	A0A024R3F9
ENSG00000186318	ENST00000445823	P56817
ENSG00000186318	ENST00000445823	A0A024R3D5
ENSG00000186318	ENST00000504995	H0YDX0
ENSG00000186318	ENST00000510630	P56817
ENSG00000186318	ENST00000510630	B7Z3K2
ENSG00000186318	ENST00000510915	U3KPS1
ENSG00000186318	ENST00000513780	P56817
ENSG00000186318	ENST00000513780	A0A024R3E8
ENSG00000186318	ENST00000528053	E9PJG7

Expression (GTEx)

100

150

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Alzheimer's disease	KEGG	ko05010
Alzheimer's disease	KEGG	hsa05010
Metabolism of proteins	REACTOME	R-HSA-392499
Amyloid fiber formation	REACTOME	R-HSA-977225

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
18587408	2008	Expression of a noncoding RNA is elevated in Alzheimer's disease and drives rapid feed-forward regulation of beta-secretase.	466
18434550	2008	Loss of microRNA cluster miR-29a/b-1 in sporadic Alzheimer's disease correlates with increased BACE1/beta-secretase expression.	400
12514700	2003	Elevated beta-secretase expression and enzymatic activity detected in sporadic Alzheimer disease.	260
12223024	2002	Beta-secretase protein and activity are increased in the neocortex in Alzheimer disease.	248
16354928	2005	BACE1, a major determinant of selective vulnerability of the brain to amyloid-beta amyloidogenesis, is essential for cognitive, emotional, and synaptic functions.	203
12112088	2002	Increased expression of the amyloid precursor beta-secretase in Alzheimer's disease.	198
14978286	2004	Amyloid beta peptide load is correlated with increased beta-secretase activity in sporadic Alzheimer's disease patients.	175
24556009	2014	Targeting the β secretase BACE1 for Alzheimer's disease therapy.	151
17409228	2007	Beta-site amyloid precursor protein cleaving enzyme 1 levels become elevated in neurons around amyloid plaques: implications for Alzheimer's disease pathogenesis.	149
15824102	2005	beta Subunits of voltage-gated sodium channels are novel substrates of beta-site amyloid precursor protein-cleaving enzyme (BACE1) and gamma-secretase.	131

Citation

Dessen P

BACE1 (beta-secretase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-06-01

Online version: http://atlasgeneticsoncology.org/gene/54008/bace1