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This gene encodes a member of the peptidase A1 family of aspartic proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protease. This transmembrane protease catalyzes the first step in the formation of amyloid beta peptide from amyloid precursor protein. Amyloid beta peptides are the main constituent of amyloid beta plaques, which accumulate in the brains of human Alzheimer's disease patients. [provided by RefSeq, Nov 2015]
BACE1 (Beta-Secretase 1) is a Protein Coding gene. Diseases associated with BACE1 include Alzheimer Disease and Tracheitis. Among its related pathways are Neuroscience and Copper homeostasis. Gene Ontology (GO) annotations related to this gene include enzyme binding and endopeptidase activity. An important paralog of this gene is BACE2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001540 | amyloid-beta binding | IPI | 16407538 |
GO:0004175 | endopeptidase activity | IDA | 10677483 |
GO:0004190 | aspartic-type endopeptidase activity | IEA,IDA | 10531052 |
GO:0005515 | protein binding | IPI | 10677483 |
GO:0008233 | peptidase activity | IDA | 8562317 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005764 | lysosome | IEA,IDA | 16033761 |
GO:0005768 | endosome | IBA,IDA | 10531052 |
GO:0005769 | early endosome | IEA,IDA | 15886016 |
GO:0005770 | late endosome | IEA,IDA | 16033761 |
GO:0005771 | multivesicular body | IDA | 24612608 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Neuroscience | ||
2 | Parkinson disease | ||
3 | A-beta Plaque Formation and APP Metabolism | ||
4 | Alzheimers Disease Pathway |
Alzheimers Disease Pathway
-
|
|
5 | Presenilin-Mediated Signaling |
Presenilin-Mediated Signaling
-
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006508 | proteolysis | IEA,IDA | 10531052 |
GO:0006509 | membrane protein ectodomain proteolysis | IBA,TAS | 12354787 |
GO:0009314 | response to radiation | IEA | -- |
GO:0010288 | response to lead ion | IEA | -- |
GO:0030163 | protein catabolic process | IBA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
(2S)-1-(2,5-dimethylphenoxy)-3-morpholin-4-ylpropan-2-ol | Experimental | Pharma | Target | 0 | ||
(2S)-4-(4-fluorobenzyl)-N-(2-sulfanylethyl)piperazine-2-carboxamide | Experimental | Pharma | Target | 0 | ||
(2S)-4-(4-fluorobenzyl)-N-(3-sulfanylpropyl)piperazine-2-carboxamide | Experimental | Pharma | Target | 0 | ||
(6R)-2-amino-6-[2-(3'-methoxybiphenyl-3-yl)ethyl]-3,6-dimethyl-5,6-dihydropyrimidin-4(3H)-one | Experimental | Pharma | Target | 0 | ||
(6S)-2-amino-6-(3'-methoxybiphenyl-3-yl)-3,6-dimethyl-5,6-dihydropyrimidin-4(3H)-one | Experimental | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
Compound | Action | Cas Number |
---|---|---|
Amyloid Beta-Peptide (12-28) (human) | 107015-83-8 | |
Amyloid Beta-Peptide (1-40) (human) | Amyloid precursor protein | 131438-79-4 |
Amyloid Beta-peptide (25-35) (human) | Functional domain of Aβ | 131602-53-4 |
Amyloid β-Peptide (10-20) (human) | Initiates neurodegeneration in Alzheimer disease | 152286-31-2 |
Amyloid β-Protein (1-15) | Principal component of amyloid | 183745-81-5 |
AZD3839 | BACE1 inhibitor,potent and selective | 1227163-56-5 |
Beta-Amyloid (1-11) | Amyloidogenic peptide | 190436-05-6 |
EHT 1864 | Rac family small GTPases inhibitor | 754240-09-0 |
EUK 134 | Salen-manganese complexes;SOD mimetic | 81065-76-1 |
LY2811376 | Non-peptidic BACE1 inhibitor | 1194044-20-6 |
LY2886721 | BACE inhibitor | 1262036-50-9 |
Pepstatin A | Aspartic proteinases inhibitor | 26305-03-3 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | ^ | 9a | · | 9b | · | 9c | ^ | 10a | · | 10b | · | 10c | · | 10d | · | 10e | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | · | 13c | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP13: |
ExUns: | 14a | · | 14b | · | 14c |
---|---|---|---|---|---|
SP1: | |||||
SP2: | |||||
SP3: | |||||
SP4: | |||||
SP5: | |||||
SP6: | |||||
SP7: | |||||
SP8: | |||||
SP9: | |||||
SP10: | |||||
SP11: | |||||
SP12: | |||||
SP13: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BACE1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | BACE1 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BACE1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BACE1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Bace1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Bace1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | BACE1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | BACE1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | BACE1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | bace1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | bace1 30 |
|
||
CABZ01088933.1 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG17134 31 |
|
ManyToMany | |
Bace 31 |
|
ManyToMany | |||
CG6508 31 |
|
ManyToMany | |||
CG5863 31 |
|
ManyToMany | |||
CG5860 31 |
|
ManyToMany | |||
CG31926 31 |
|
ManyToMany | |||
pcl 31 |
|
ManyToMany | |||
CG31661 31 |
|
ManyToMany | |||
CG31928 31 |
|
ManyToMany | |||
CG17283 31 |
|
ManyToMany | |||
CG33128 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | asp-15 31 |
|
ManyToMany | |
asp-18 31 |
|
ManyToMany | |||
asp-16 31 |
|
ManyToMany | |||
asp-5 31 |
|
ManyToMany | |||
asp-1 31 |
|
ManyToMany | |||
asp-9 31 |
|
ManyToMany | |||
asp-17 31 |
|
ManyToMany | |||
asp-6 31 |
|
ManyToMany | |||
asp-13 31 |
|
ManyToMany | |||
asp-12 31 |
|
ManyToMany | |||
asp-7 31 |
|
ManyToMany | |||
asp-19 31 |
|
ManyToMany | |||
asp-10 31 |
|
ManyToMany | |||
asp-14 31 |
|
ManyToMany | |||
asp-8 31 |
|
ManyToMany | |||
asp-2 31 |
|
ManyToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PEP4 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs28989503 | - | p.Val265Ala | |||
rs539765 | - | p.Arg481Cys |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv246n67 | CNV | loss | 20364138 |
esv2672663 | CNV | deletion | 23128226 |
esv3627847 | CNV | loss | 21293372 |
nsv1038815 | CNV | gain | 25217958 |
nsv509443 | CNV | insertion | 20534489 |
nsv516483 | CNV | gain | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
alzheimer disease |
|
|
tracheitis |
|
|
amyloidosis |
|
|
creutzfeldt-jakob disease |
|
|
myositis |
|