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BACE1 (beta-secretase 1)

Identity

Alias_namesBACE
beta-site APP-cleaving enzyme
beta-site APP-cleaving enzyme 1
Other aliasASP2
HSPC104
HGNC (Hugo) BACE1
LocusID (NCBI) 23621
Atlas_Id 54008
Location 11q23.3  [Link to chromosome band 11q23]
Location_base_pair Starts at 117285686 and ends at 117295670 bp from pter ( according to hg38-Dec_2013)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)BACE1   933
Cards
Entrez_Gene (NCBI)BACE1  23621  beta-secretase 1
AliasesASP2; BACE; HSPC104
GeneCards (Weizmann)BACE1
Ensembl hg19 (Hinxton)ENSG00000186318 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000186318 [Gene_View]  chr11:117285686-117295670 [Contig_View]  BACE1 [Vega]
ICGC DataPortalENSG00000186318
TCGA cBioPortalBACE1
AceView (NCBI)BACE1
Genatlas (Paris)BACE1
WikiGenes23621
SOURCE (Princeton)BACE1
Genetics Home Reference (NIH)BACE1
Genomic and cartography
GoldenPath hg38 (UCSC)BACE1  -     chr11:117285686-117295670 -  11q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BACE1  -     11q23.3   [Description]    (hg19-Feb_2009)
EnsemblBACE1 - 11q23.3 [CytoView hg19]  BACE1 - 11q23.3 [CytoView hg38]
Mapping of homologs : NCBIBACE1 [Mapview hg19]  BACE1 [Mapview hg38]
OMIM604252   
Gene and transcription
Genbank (Entrez)AB032975 AB050436 AB050437 AB050438 AB089958
RefSeq transcript (Entrez)NM_001207048 NM_001207049 NM_012104 NM_138971 NM_138972 NM_138973
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BACE1
Cluster EST : UnigeneHs.504003 [ NCBI ]
CGAP (NCI)Hs.504003
Alternative Splicing GalleryENSG00000186318
Gene ExpressionBACE1 [ NCBI-GEO ]   BACE1 [ EBI - ARRAY_EXPRESS ]   BACE1 [ SEEK ]   BACE1 [ MEM ]
Gene Expression Viewer (FireBrowse)BACE1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23621
GTEX Portal (Tissue expression)BACE1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP56817   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP56817  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP56817
Splice isoforms : SwissVarP56817
Catalytic activity : Enzyme3.4.23.46 [ Enzyme-Expasy ]   3.4.23.463.4.23.46 [ IntEnz-EBI ]   3.4.23.46 [ BRENDA ]   3.4.23.46 [ KEGG ]   
PhosPhoSitePlusP56817
Domaine pattern : Prosite (Expaxy)ASP_PROTEASE (PS00141)    PEPTIDASE_A1 (PS51767)   
Domains : Interpro (EBI)Aspartic_peptidase_A1    Aspartic_peptidase_AS    BACE    BACE1    Memapsin-like    PEPTIDASE_A1    Peptidase_aspartic_dom   
Domain families : Pfam (Sanger)Asp (PF00026)   
Domain families : Pfam (NCBI)pfam00026   
Conserved Domain (NCBI)BACE1
DMDM Disease mutations23621
Blocks (Seattle)BACE1
PDB (SRS)###############################################################################################################################################################################################################################################################   
PDB (PDBSum)###############################################################################################################################################################################################################################################################   
PDB (IMB)###############################################################################################################################################################################################################################################################   
PDB (RSDB)###############################################################################################################################################################################################################################################################   
Structural Biology KnowledgeBase###############################################################################################################################################################################################################################################################   
SCOP (Structural Classification of Proteins)###############################################################################################################################################################################################################################################################   
CATH (Classification of proteins structures)###############################################################################################################################################################################################################################################################   
SuperfamilyP56817
Human Protein AtlasENSG00000186318
Peptide AtlasP56817
HPRD07255
IPIIPI00011518   IPI00216209   IPI00216210   IPI00216211   IPI00386093   IPI00411567   IPI00968051   IPI00964620   IPI00977638   IPI00979537   IPI00978929   
Protein Interaction databases
DIP (DOE-UCLA)P56817
IntAct (EBI)P56817
FunCoupENSG00000186318
BioGRIDBACE1
STRING (EMBL)BACE1
ZODIACBACE1
Ontologies - Pathways
QuickGOP56817
Ontology : AmiGObeta-amyloid binding  aspartic-type endopeptidase activity  protein binding  endosome  late endosome  multivesicular body  endoplasmic reticulum lumen  Golgi apparatus  trans-Golgi network  plasma membrane  plasma membrane  integral component of plasma membrane  proteolysis  membrane protein ectodomain proteolysis  membrane protein ectodomain proteolysis  peptidase activity  beta-aspartyl-peptidase activity  cell surface  endosome membrane  integral component of membrane  enzyme binding  protein catabolic process  axon  cytoplasmic vesicle membrane  cellular protein metabolic process  membrane raft  beta-amyloid metabolic process  modulation of synaptic transmission  Golgi-associated vesicle lumen  
Ontology : EGO-EBIbeta-amyloid binding  aspartic-type endopeptidase activity  protein binding  endosome  late endosome  multivesicular body  endoplasmic reticulum lumen  Golgi apparatus  trans-Golgi network  plasma membrane  plasma membrane  integral component of plasma membrane  proteolysis  membrane protein ectodomain proteolysis  membrane protein ectodomain proteolysis  peptidase activity  beta-aspartyl-peptidase activity  cell surface  endosome membrane  integral component of membrane  enzyme binding  protein catabolic process  axon  cytoplasmic vesicle membrane  cellular protein metabolic process  membrane raft  beta-amyloid metabolic process  modulation of synaptic transmission  Golgi-associated vesicle lumen  
Pathways : KEGGAlzheimer's disease   
NDEx NetworkBACE1
Atlas of Cancer Signalling NetworkBACE1
Wikipedia pathwaysBACE1
Orthology - Evolution
OrthoDB23621
GeneTree (enSembl)ENSG00000186318
Phylogenetic Trees/Animal Genes : TreeFamBACE1
HOVERGENP56817
HOGENOMP56817
Homologs : HomoloGeneBACE1
Homology/Alignments : Family Browser (UCSC)BACE1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBACE1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BACE1
dbVarBACE1
ClinVarBACE1
1000_GenomesBACE1 
Exome Variant ServerBACE1
ExAC (Exome Aggregation Consortium)BACE1 (select the gene name)
Genetic variants : HAPMAP23621
Genomic Variants (DGV)BACE1 [DGVbeta]
DECIPHERBACE1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBACE1 
Mutations
ICGC Data PortalBACE1 
TCGA Data PortalBACE1 
Broad Tumor PortalBACE1
OASIS PortalBACE1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBACE1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBACE1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch BACE1
DgiDB (Drug Gene Interaction Database)BACE1
DoCM (Curated mutations)BACE1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BACE1 (select a term)
intoGenBACE1
Cancer3DBACE1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604252   
Orphanet
MedgenBACE1
Genetic Testing Registry BACE1
NextProtP56817 [Medical]
TSGene23621
GENETestsBACE1
Target ValidationBACE1
Huge Navigator BACE1 [HugePedia]
snp3D : Map Gene to Disease23621
BioCentury BCIQBACE1
ClinGenBACE1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23621
Chemical/Pharm GKB GenePA25232
Clinical trialBACE1
Miscellaneous
canSAR (ICR)BACE1 (select the gene name)
Probes
Litterature
PubMed330 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBACE1
EVEXBACE1
GoPubMedBACE1
iHOPBACE1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:25:11 CEST 2017

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