BACE1 (beta-secretase 1)

2014-06-01  

Identity

HGNC
BACE1
LOCATION
11q23.3
LOCUSID
23621
ALIAS
ASP2,BACE,HSPC104

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000186318ENST00000313005P56817
ENSG00000186318ENST00000313005A0A024R3D7
ENSG00000186318ENST00000392937P56817
ENSG00000186318ENST00000392937B7Z3Z4
ENSG00000186318ENST00000428381P56817
ENSG00000186318ENST00000428381A0A024R3F9
ENSG00000186318ENST00000445823P56817
ENSG00000186318ENST00000445823A0A024R3D5
ENSG00000186318ENST00000504995H0YDX0
ENSG00000186318ENST00000510630P56817
ENSG00000186318ENST00000510630B7Z3K2
ENSG00000186318ENST00000510915U3KPS1
ENSG00000186318ENST00000513780P56817
ENSG00000186318ENST00000513780A0A024R3E8
ENSG00000186318ENST00000528053E9PJG7

Expression (GTEx)

0
50
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

PathwaySourceExternal ID
Alzheimer's diseaseKEGGko05010
Alzheimer's diseaseKEGGhsa05010
Metabolism of proteinsREACTOMER-HSA-392499
Amyloid fiber formationREACTOMER-HSA-977225

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
382274642024Determining Structural Changes for Ligand Recognition between Human and Rat Phosphorylated BACE1 in Silico and Its Phosphorylation by GSK3β at Thr252 by in Vitro Studies.0
382274642024Determining Structural Changes for Ligand Recognition between Human and Rat Phosphorylated BACE1 in Silico and Its Phosphorylation by GSK3β at Thr252 by in Vitro Studies.0
368470092023Bilateral Hippocampal Volume Mediated the Relationship Between Plasma BACE1 Concentration and Memory Function in the Early Stage of Alzheimer's Disease: A Cross-Sectional Study.0
370851112023TNIP2 inhibits amyloidogenesis by regulating the 3'UTR of BACE1: An in vitro study.0
371758732023β-Secretase-1: In Silico Drug Reposition for Alzheimer's Disease.2
372864802023BACE1 SUMOylation deregulates phosphorylation and ubiquitination in Alzheimer's disease pathology.2
373554922023APP-BACE1 Interaction and Intracellular Localization Regulate Aβ Production in iPSC-Derived Cortical Neurons.3
375521272023Inhibition of BACE1 attenuates microglia-induced neuroinflammation after intracerebral hemorrhage by suppressing STAT3 activation.0
376586022023Characterizing the transmembrane domains of ADAM10 and BACE1 and the impact of membrane composition.0
379861032023m6A modified BACE1-AS contributes to liver metastasis and stemness-like properties in colorectal cancer through TUFT1 dependent activation of Wnt signaling.2
368470092023Bilateral Hippocampal Volume Mediated the Relationship Between Plasma BACE1 Concentration and Memory Function in the Early Stage of Alzheimer's Disease: A Cross-Sectional Study.0
370851112023TNIP2 inhibits amyloidogenesis by regulating the 3'UTR of BACE1: An in vitro study.0
371758732023β-Secretase-1: In Silico Drug Reposition for Alzheimer's Disease.2
372864802023BACE1 SUMOylation deregulates phosphorylation and ubiquitination in Alzheimer's disease pathology.2
373554922023APP-BACE1 Interaction and Intracellular Localization Regulate Aβ Production in iPSC-Derived Cortical Neurons.3

Citation

Dessen P

BACE1 (beta-secretase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-06-01

Online version: http://atlasgeneticsoncology.org/gene/54008/favicon/gene-fusions-explorer/meetings