Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23621
Gene name Gene Name - the full gene name approved by the HGNC.
Beta-secretase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BACE1
Synonyms (NCBI Gene) Gene synonyms aliases
ASP2, BACE, HSPC104
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q23.3
Summary Summary of gene provided in NCBI Entrez Gene.
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. Thi
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000800 hsa-miR-107 Western blot, Northern blot 18234899
MIRT001825 hsa-miR-124-3p Luciferase reporter assay 18434550
MIRT001802 hsa-miR-15a-5p Luciferase reporter assay 18434550
MIRT001793 hsa-miR-19b-3p Luciferase reporter assay 18434550
MIRT001766 hsa-miR-29a-3p Luciferase reporter assay, Western blot 18434550
Transcription factors
Transcription factor Regulation Reference
GATA1 Unknown 12815710
NFKB1 Repression 17385716
RELA Repression 17385716
SP1 Activation 21712774;22275252
SP1 Unknown 15681800;15857888
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001540 Function Amyloid-beta binding IPI 16407538
GO:0004175 Function Endopeptidase activity IDA 10677483
GO:0004190 Function Aspartic-type endopeptidase activity IDA 10531052
GO:0005515 Function Protein binding IPI 10677483, 12901838, 15286784, 15466887, 15886016, 16407538, 17573534, 19011241, 20354142, 22709416, 22801501, 23701002, 24612608, 25957769, 26053850, 26840340, 27179792, 29507146, 30538620, 32814053
GO:0005764 Component Lysosome IDA 16033761, 23109336, 27084579, 27302062
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604252 933 ENSG00000186318
Protein
UniProt ID P56817
Protein name Beta-secretase 1 (EC 3.4.23.46) (Aspartyl protease 2) (ASP2) (Asp 2) (Beta-site amyloid precursor protein cleaving enzyme 1) (Beta-site APP cleaving enzyme 1) (Memapsin-2) (Membrane-associated aspartic protease 2)
Protein function Responsible for the proteolytic processing of the amyloid precursor protein (APP). Cleaves at the N-terminus of the A-beta peptide sequence, between residues 671 and 672 of APP, leads to the generation and extracellular release of beta-cleaved s
PDB 1FKN , 1M4H , 1PY1 , 1SGZ , 1TQF , 1UJJ , 1UJK , 1W50 , 1W51 , 1XN2 , 1XN3 , 1XS7 , 1YM2 , 1YM4 , 2B8L , 2B8V , 2F3E , 2F3F , 2FDP , 2G94 , 2HIZ , 2HM1 , 2IQG , 2IRZ , 2IS0 , 2NTR , 2OAH , 2OF0 , 2OHK , 2OHL , 2OHM , 2OHN , 2OHP , 2OHQ , 2OHR , 2OHS , 2OHT , 2OHU , 2P4J , 2P83 , 2P8H , 2PH6 , 2PH8 , 2Q11 , 2Q15 , 2QK5 , 2QMD , 2QMF , 2QMG , 2QP8 , 2QU2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00026 Asp 74 418 Eukaryotic aspartyl protease Family
Tissue specificity TISSUE SPECIFICITY: Expressed at high levels in the brain and pancreas. In the brain, expression is highest in the substantia nigra, locus coruleus and medulla oblongata. {ECO:0000269|PubMed:10677483, ECO:0000269|PubMed:11083922}.
Sequence
Sequence length 501
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Alzheimer disease   Amyloid fiber formation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Alzheimer disease Familial Alzheimer Disease (FAD), Alzheimer Disease, Late Onset, Alzheimer Disease, Early Onset, Alzheimer`s Disease, Alzheimer`s Disease, Focal Onset rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)
16407166
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
20926259, 19536656
Associations from Text Mining
Disease Name Relationship Type References
AA amyloidosis Associate 10956649, 16181410, 25992776, 30786875
Acquired CJD Associate 22952813
Acute Coronary Syndrome Associate 35915966
Alzheimer Disease Associate 10677483, 10887202, 10956649, 11423558, 12135764, 14507929, 14978286, 15197182, 15492223, 15615712, 15659232, 15677864, 16181410, 16611980, 17439957
View all (56 more)
Alzheimer Disease Stimulate 15034149, 21329555, 24332014, 24970022, 25491230, 28359566, 29316899, 33014268
Alzheimer Disease Inhibit 23036023
Anxiety Associate 22590542
Atherosclerosis Associate 35915966
Atrophy Associate 30686901
Autism Spectrum Disorder Associate 27212113, 34852743