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BACE1 (beta-secretase 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23621
Gene nameGene Name - the full gene name approved by the HGNC.
Beta-secretase 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
BACE1
SynonymsGene synonyms aliases
ASP2, BACE, HSPC104
ChromosomeChromosome number
11
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q23.3
SummarySummary 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
Sequence length 501
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Alzheimer disease   Amyloid fiber formation
Associated diseases
Causal
Disease name Disease term 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, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs145518263, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316 16407166
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 20926259, 19536656
Unknown
Disease name Disease term dbSNP ID References
Cardiovascular diseases Cardiovascular Diseases 21779381
Senile dementia Presenile dementia, Acute Confusional Senile Dementia 16407166

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