Homo sapiens Gene: BACE1
Summary
InnateDB Gene IDBG-73181.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BACE1
Gene Name beta-site APP-cleaving enzyme 1
Synonyms ASP2; BACE; HSPC104;
Species Homo sapiens
Ensembl Gene ENSG00000186318
Encoded Proteins
beta-site APP-cleaving enzyme 1
beta-site APP-cleaving enzyme 1
beta-site APP-cleaving enzyme 1
beta-site APP-cleaving enzyme 1
beta-site APP-cleaving enzyme 1
beta-site APP-cleaving enzyme 1
beta-site APP-cleaving enzyme 1
beta-site APP-cleaving enzyme 1
beta-site APP-cleaving enzyme 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Cerebral deposition of amyloid beta peptide is an early and critical feature of Alzheimer's disease. Amyloid beta peptide is generated by proteolytic cleavage of amyloid precursor protein (APP) by two proteases, one of which is the protein encoded by this gene. The encoded protein, a member of the peptidase A1 protein family, is a type I integral membrane glycoprotein and aspartic protease that is found mainly in the Golgi. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011]
Cerebral deposition of amyloid beta peptide is an early and critical feature of Alzheimer\'s disease. Amyloid beta peptide is generated by proteolytic cleavage of amyloid precursor protein (APP) by two proteases, one of which is the protein encoded by this gene. The encoded protein, a member of the peptidase A1 protein family, is a type I integral membrane glycoprotein and aspartic protease that is found mainly in the Golgi. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:117285207-117316259
Strand Reverse strand
Band q23.3
Transcripts
ENST00000313005 ENSP00000318585
ENST00000392937 ENSP00000475405
ENST00000445823 ENSP00000403685
ENST00000428381 ENSP00000402228
ENST00000510630 ENSP00000422461
ENST00000513780 ENSP00000424536
ENST00000509916
ENST00000510915 ENSP00000475171
ENST00000504995 ENSP00000434486
ENST00000514464
ENST00000528053 ENSP00000431848
ENST00000530824
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 33 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 33 [view]
Protein-Protein 31 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0001540 beta-amyloid binding
GO:0004175 endopeptidase activity
GO:0004190 aspartic-type endopeptidase activity
GO:0005515 protein binding
GO:0008233 peptidase activity
GO:0008798 beta-aspartyl-peptidase activity
GO:0019899 enzyme binding
Biological Process
GO:0006508 proteolysis
GO:0006509 membrane protein ectodomain proteolysis
GO:0050435 beta-amyloid metabolic process
Cellular Component
GO:0005768 endosome
GO:0005770 late endosome
GO:0005771 multivesicular body
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005802 trans-Golgi network
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030424 axon
GO:0030659 cytoplasmic vesicle membrane
GO:0031410 cytoplasmic vesicle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Alzheimer's disease pathway
INOH
PID BIOCARTA
Generation of amyloid b-peptide by ps1 [Biocarta view]
PID NCI
Cross-References
SwissProt P56817
TrEMBL B7Z3K2 H0YDX0 U3KPS1
UniProt Splice Variant
Entrez Gene 23621
UniGene Hs.504003 Hs.619983 Hs.646163 Hs.670113
RefSeq NM_001207049 NM_001207048 NM_012104 NM_138971 NM_138972 NM_138973
HUGO HGNC:933
OMIM 604252
CCDS CCDS55786 CCDS44739 CCDS44740 CCDS44741 CCDS55787 CCDS8383
HPRD 07255
IMGT
EMBL AB032975 AB050436 AB050437 AB050438 AF190725 AF200193 AF200343 AF201468 AF204943 AF338816 AF338817 AK296015 AP000892 BC065492 CH471065 DQ007053 EF444940
GenPept AAF04142 AAF13715 AAF17079 AAF18982 AAF26367 AAH65492 AAK38374 AAK38375 AAY16982 ACA05927 BAA86463 BAB40931 BAB40932 BAB40933 BAH12238 EAW67313
RNA Seq Atlas 23621