BACE1 - beta-secretase 1 Gene
Also Known as ASP2; BACE; HSPC104
Species: Homo sapiens
About BACE1
This gene has 18 transcripts (splice variants), 219 orthologues and 9 paralogues. Ubiquitous expression in pancreas (RPKM 33.5), brain (RPKM 30.2) and 24 other tissues.
Summary
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 Products (8)
| mRNA | Protein | Name |
|---|---|---|
| NM_138971.4 | NP_620427.1 | beta-secretase 1 isoform C precursor |
| NM_138973.4 | NP_620429.1 | beta-secretase 1 isoform D precursor |
| XM_047426686.1 | XP_047282642.1 | beta-secretase 1 isoform X1 |
| NM_138972.4 | NP_620428.1 | beta-secretase 1 isoform B precursor |
| NM_012104.6 | NP_036236.1 | beta-secretase 1 isoform A preproprotein |
| NM_001207049.3 | NP_001193978.1 | beta-secretase 1 isoform F |
| NM_001411039.1 | NP_001397968.1 | beta-secretase 1 isoform G |
| NM_001207048.3 | NP_001193977.1 | beta-secretase 1 isoform E |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables amyloid-beta binding |
IPI
IPI: Inferred from physical interaction
|
16407538 | GOA |
| enables aspartic-type endopeptidase activity |
IDA
IDA: Inferred from direct assay
|
10531052 | GOA |
| enables endopeptidase activity |
IDA
IDA: Inferred from direct assay
|
10677483 | GOA |
| enables enzyme binding |
IPI
IPI: Inferred from physical interaction
|
12586838 | GOA |
| enables peptidase activity |
IDA
IDA: Inferred from direct assay
|
8562317 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
10677483 | GOA |
| enables protein serine/threonine kinase binding |
IPI
IPI: Inferred from physical interaction
|
24305806 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in amyloid-beta formation |
IDA
IDA: Inferred from direct assay
|
24352696 | GOA |
| involved in amyloid-beta metabolic process |
IDA
IDA: Inferred from direct assay
|
10677483 | GOA |
| involved in membrane protein ectodomain proteolysis |
IDA
IDA: Inferred from direct assay
|
18353773 | GOA |
| involved in positive regulation of neuron apoptotic process |
IGI
IGI: Inferred from genetic interaction
|
29371969 | GOA |
| involved in protein processing |
IDA
IDA: Inferred from direct assay
|
10531052 | GOA |
| involved in proteolysis |
IDA
IDA: Inferred from direct assay
|
10531052 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in Golgi apparatus |
IDA
IDA: Inferred from direct assay
|
10531052 | GOA |
| located in cell surface |
IDA
IDA: Inferred from direct assay
|
15886016 | GOA |
| located in early endosome |
IDA
IDA: Inferred from direct assay
|
15886016 | GOA |
| located in endosome |
IDA
IDA: Inferred from direct assay
|
10531052 | GOA |
| located in late endosome |
IDA
IDA: Inferred from direct assay
|
16033761 | GOA |
| located in lysosome |
IDA
IDA: Inferred from direct assay
|
16033761 | GOA |
| located in multivesicular body |
IDA
IDA: Inferred from direct assay
|
24612608 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
12586838 | GOA |
| located in recycling endosome |
IDA
IDA: Inferred from direct assay
|
15886016 | GOA |
| located in trans-Golgi network |
IDA
IDA: Inferred from direct assay
|
11466313 | GOA |
BACE1 Protein Structure
Asp: Eukaryotic aspartyl protease (75 - 416)
- 0
- 100
- 200
- 300
- 400
- 501 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
beta-secretase 1 |
|
|
BACE1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Cross
|
BACE1 | P56817 | Clec4g | Mus musculus | Q8BNX1 | 25957769 | |
|
Cross
|
BACE1 | P56817 | Clec4g | Mus musculus | Q8BNX1 | 25957769 | |
|
Intra
|
BACE1 | P56817 | KCNC4 | Homo sapiens | Q03721 | 29507146 | |
|
Intra
|
BACE1 | P56817 | KCNC4 | Homo sapiens | Q03721 | 29507146 | |
|
Intra
|
BACE1 | P56817 | GGA1 | Homo sapiens | Q9UJY5 | 15466887 | |
|
Intra
|
BACE1 | P56817 | GGA1 | Homo sapiens | Q9UJY5 | 15466887 | |
|
Intra
|
BACE1 | P56817 | APP | Homo sapiens | P05067 | 22801501 | |
|
Intra
|
BACE1 | P56817 | APP | Homo sapiens | P05067 | 30538620 | |
|
Intra
|
BACE1 | P56817 | APP | Homo sapiens | P05067 | 10677483 | |
|
Intra
|
BACE1 | P56817 | APP | Homo sapiens | P05067 | 10677483 | |
|
Intra
|
BACE1 | P56817 | IAPP | Homo sapiens | P10997 | 26840340 | |
|
Intra
|
BACE1 | P56817 | SNX6 | Homo sapiens | Q9UNH7 | 20354142 |
Recombinant BACE1 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P72840 | BACE1 Protein, Human (HEK293) | P56817-1/NP_036236.1 (T22-T457) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P72842 | BACE1 Protein, Human (HEK293, His) | NP_036236.1 (T22-T457) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P77569 | BACE1 Protein, Human (HEK293, Fc) | P56817-1 (T22-T457) | ≥ 95%, as determined by Bis-Tris PAGE. |
BACE1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P82169 | BACE Antibody (YA1914) | WB, IP | Human, Mouse, Rat |
| HY-P85420 | BACE Antibody (YA5112) | WB | Human, Rat, Bovine, Dog, Pig |
| HY-P86180 | BACE Antibody (YA5872) | WB, IHC-P, ICC/IF, IP, ELISA | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Down Syndrome |
|
|
| Inclusion Body Myositis |
|
|
| Frontotemporal Dementia |
|
|
| Peripheral Nervous System Disease |
|
|
| Pick Disease Of Brain |
|
|
| Neurosyphilis |
|
|
| Creutzfeldt-Jakob Disease |
|
|
| Nervous System Disease |
|
|
| Disease Of Mental Health |
|
|
| Polyradiculoneuropathy |
|
|
| Alzheimer Disease 4 |
|
|
| Subjective Cognitive Decline |
|
|
| Amyloidosis |
|
|
| Cerebral Amyloid Angiopathy, App-Related |
|
|
| Schizophrenia |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
| Toxic Encephalopathy |
|
|
| Mild Cognitive Impairment |
|
|
| Myositis |
|
|
| Chromosomal Duplication Syndrome |
|
|
| Necatoriasis |
|
|
| Normal Pressure Hydrocephalus |
|
|
| Dementia, Lewy Body |
|
|
| Dementia |
|
|
| Vascular Dementia |
|
|
| Chromosomal Disease |
|
|
| Parkinson Disease, Late-Onset |
|
|
| Neuroblastoma |
|
|
| Alzheimer Disease, Familial, 1 |
|
|
| Alzheimer Disease 10 |
|
|
| Cerebral Amyloid Angiopathy, Cst3-Related |
|
|
| Stroke, Ischemic |
|
|
| Alzheimer Disease 3 |
|
|
| Amnestic Disorder |
|
|
| Cerebrovascular Disease |
|
|
| Supranuclear Palsy, Progressive, 1 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | BACE1 | RGD | RGD:2191 |
| Felis catus | BACE1 | VGNC | VGNC:69027 |
| Macaca mulatta | BACE1 | VGNC | VGNC:70215 |
| Mus musculus | BACE1 | MGD | MGI:1346542 |
| Bos taurus | BACE1 | VGNC | VGNC:26400 |
| Canis familiaris | BACE1 | VGNC | VGNC:38358 |
| Others | BACE1 | NCBI |