Bace1 - beta-site APP cleaving enzyme 1 Gene
Also Known as ASP2; Bace
Species: Mus musculus
About Bace1
This gene has 6 transcripts (splice variants), 219 orthologues, 8 paralogues and is associated with 36 phenotypes. Ubiquitous expression in cerebellum adult (RPKM 19.1), ovary adult (RPKM 19.) and 28 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. Homozygous knockout mice for this gene exhibit a wide range of nervous system defects, growth retardation, metabolic abnormalities, and increased neonatal lethality. [provided by RefSeq, Nov 2015]
Bace1 Products (5)
| mRNA | Protein | Name |
|---|---|---|
| NM_001410456.1 | NP_001397385.1 | beta-secretase 1 isoform 4 |
| NM_001410455.1 | NP_001397384.1 | beta-secretase 1 isoform 3 precursor |
| NM_001410457.1 | NP_001397386.1 | beta-secretase 1 isoform 5 |
| NM_001145947.3 | NP_001139419.1 | beta-secretase 1 isoform 2 precursor |
| NM_011792.7 | NP_035922.4 | beta-secretase 1 isoform 1 preproprotein |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables aspartic-type endopeptidase activity |
IDA
IDA: Inferred from direct assay
|
25592972 | MGI |
| enables aspartic-type endopeptidase activity |
IMP
IMP: Inferred from mutant phenotype
|
29325091 | MGI |
| enables endopeptidase activity |
IDA
IDA: Inferred from direct assay
|
15123597 | MGI |
| enables endopeptidase activity |
IMP
IMP: Inferred from mutant phenotype
|
17099708 | MGI |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
15606899 | MGI |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in amyloid precursor protein catabolic process |
IGI
IGI: Inferred from genetic interaction
|
20704561 | MGI |
| acts upstream of or within amyloid-beta metabolic process |
IDA
IDA: Inferred from direct assay
|
25592972 | MGI |
| involved in membrane protein ectodomain proteolysis |
IMP
IMP: Inferred from mutant phenotype
|
29325091 | MGI |
| involved in modulation of chemical synaptic transmission |
IGI
IGI: Inferred from genetic interaction
|
20943921 | MGI |
| involved in presynaptic modulation of chemical synaptic transmission |
IDA
IDA: Inferred from direct assay
|
18753368 | MGI |
| involved in presynaptic modulation of chemical synaptic transmission |
IMP
IMP: Inferred from mutant phenotype
|
18753368 | MGI |
| acts upstream of or within proteolysis |
IDA
IDA: Inferred from direct assay
|
15123597 | MGI |
| involved in signaling receptor ligand precursor processing |
IMP
IMP: Inferred from mutant phenotype
|
17099708 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in axon |
IDA
IDA: Inferred from direct assay
|
11740561 | MGI |
| located in cell surface |
IDA
IDA: Inferred from direct assay
|
26467158 | MGI |
| located in cytoplasmic vesicle |
IDA
IDA: Inferred from direct assay
|
11740561 | MGI |
| located in early endosome |
IDA
IDA: Inferred from direct assay
|
25592972 | MGI |
| located in endosome |
IDA
IDA: Inferred from direct assay
|
19074428 | MGI |
| is active in hippocampal mossy fiber to CA3 synapse |
IDA
IDA: Inferred from direct assay
|
18753368 | MGI |
| is active in hippocampal mossy fiber to CA3 synapse |
IMP
IMP: Inferred from mutant phenotype
|
18753368 | MGI |
| located in membrane |
IDA
IDA: Inferred from direct assay
|
15886206 | MGI |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
29325091 | MGI |
| is active in plasma membrane |
IMP
IMP: Inferred from mutant phenotype
|
17099708 | MGI |
| is active in presynapse |
IDA
IDA: Inferred from direct assay
|
23820808 | MGI |
| located in recycling endosome |
IDA
IDA: Inferred from direct assay
|
23931995 | MGI |
| located in trans-Golgi network |
IDA
IDA: Inferred from direct assay
|
19074428 | MGI |
Bace1 Protein Structure
beta_secretase_like: cd05473 (71 - 436)
- 0
- 100
- 200
- 300
- 400
- 501 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
beta-secretase 1 |
|
|
Recombinant Bace1 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P72843 | BACE1 Protein, Mouse (HEK293, His) | NP_035922.4 (T22-T457) | ≥ 95%, as determined by reducing SDS-PAGE. |