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BACE1 Gene

protein-coding   GIFtS: 67
GCID: GC11M117156

Beta-Site APP-Cleaving Enzyme 1

(Previous name: beta-site APP-cleaving enzyme)
(Previous symbol: BACE)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Beta-Site APP-Cleaving Enzyme 11 2     APP Beta-Secretase2
BACE1 2 3 5     Beta-Secretase 12
Asp 22 3     Beta-Secretase 1 Precursor Variant 12
Aspartyl Protease 22 3     Beta-Site Amyloid Beta A4 Precursor Protein-Cleaving Enzyme2
Beta-Site APP Cleaving Enzyme 12 3     memapsin-22
Membrane-Associated Aspartic Protease 22 3     Transmembrane Aspartic Proteinase Asp22
ASP22 3     KIAA11493
EC 3.4.23.463 8     Memapsin-23
Beta-Site APP-Cleaving Enzyme1     Beta-Site Amyloid Precursor Protein Cleaving Enzyme 13
HSPC1042     EC 3.4.238

External Ids:    HGNC: 9331   Entrez Gene: 236212   Ensembl: ENSG000001863187   OMIM: 6042525   UniProtKB: P568173   

Export aliases for BACE1 gene to outside databases

Previous GC identifers: GC11M116695 GC11M116661 GC11M113090


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for BACE1 Gene:
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)

GeneCards Summary for BACE1 Gene:
BACE1 (beta-site APP-cleaving enzyme 1) is a protein-coding gene. Diseases associated with BACE1 include myositis, and hypohidrotic ectodermal dysplasia. GO annotations related to this gene include beta-aspartyl-peptidase activity and enzyme binding. An important paralog of this gene is CTSD.

UniProtKB/Swiss-Prot: BACE1_HUMAN, P56817
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 soluble APP, and a corresponding cell-associated C-terminal fragment which
is later released by gamma-secretase

Gene Wiki entry for BACE1 (Beta-secretase 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NC_018922.2  NT_033899.9  
Regulatory elements:
   Regulatory transcription factor binding sites in the BACE1 gene promoter:
         p53   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBACE1 promoter sequence
   Search Chromatin IP Primers for BACE1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BACE1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q23.2-q23.3   Ensembl cytogenetic band:  11q23.3   HGNC cytogenetic band: 11q23-q24

BACE1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BACE1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M117156:  view genomic region     (about GC identifiers)

Start:
117,156,402 bp from pter      End:
117,186,975 bp from pter
Size:
30,574 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: BACE1_HUMAN, P56817 (See protein sequence)
Recommended Name: Beta-secretase 1 precursor  
Size: 501 amino acids; 55711 Da
Subunit: Monomer. Interacts with GGA1, GGA2 and GGA3. Interacts with RTN3 and RTN4. Interacts with SNX6. Interacts
with PCSK9
Sequence caution: Sequence=BAA86463.2; Type=Frameshift; Positions=34;
Selected PDB 3D structures from and Proteopedia for BACE1 (see all 293):
1FKN (3D)        1M4H (3D)        1PY1 (3D)        1SGZ (3D)        1TQF (3D)        1UJJ (3D)    
Secondary accessions: A0M8W7 B0YIU9 E9PE65 H7BXJ9 Q9BYB9 Q9BYC0 Q9BYC1 Q9UJT5 Q9ULS1
Alternative splicing: 6 isoforms:  P56817-1   P56817-2   P56817-3   P56817-4   P56817-5   P56817-6   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for BACE1: NX_P56817

Explore proteomics data for BACE1 at MOPED

Post-translational modifications: 

  • Glycosylated1
  • Glycosylation2 at Asn153, Asn172, Asn223, Asn354
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for BACE1 (P56817) (see all 7)
     VEGPFVT  SFRITILPQ  GIRLPLRSGL  ILVDTGSSNFAV 


    See BACE1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001193977.1  NP_001193978.1  NP_036236.1  NP_620427.1  NP_620428.1  NP_620429.1  

    ENSEMBL proteins: 
     ENSP00000318585   ENSP00000475405   ENSP00000431848   ENSP00000422461   ENSP00000402228  
     ENSP00000424536   ENSP00000403685   ENSP00000475171   ENSP00000434486  

    BACE1 Human Recombinant Protein Products:

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    R&D Systems Recombinant & Natural Proteins for BACE1 (BACE-1)
    Enzo Life Sciences proteins for BACE1
    OriGene Purified Protein for BACE1
    OriGene Protein Over-expression Lysate for BACE1
    OriGene MassSpec for BACE1
    OriGene Custom Protein Services for BACE1
    GenScript Custom Purified and Recombinant Proteins Services for BACE1
    Novus Biologicals BACE1 Proteins
    Novus Biologicals BACE1 Lysates
    Sino Biological Recombinant Protein for BACE1
    Sino Biological Cell Lysate for BACE1
    ProSpec Recombinant Protein for BACE1
    Browse Proteins at Cloud-Clone Corp.

    BACE1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of BACE1
    R&D Systems Antibodies for BACE1 (BACE-1)
    Cell Signaling Technology (CST) Antibodies for BACE1  (BACE)
    OriGene Antibodies for BACE1
    OriGene Custom Antibody Services for BACE1
    Novus Biologicals BACE1 Antibodies
    Abcam antibodies for BACE1
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for BACE1
    LSBio Antibodies in human, mouse, rat for BACE1

    BACE1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for BACE1
    R&D Systems ELISAs for BACE1 (BACE-1)         (see all)
    GenScript Custom Assay Services for BACE1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR021109 Peptidase_aspartic_dom
     IPR001969 Aspartic_peptidase_AS
     IPR009120 Pept_A1_BACE1
     IPR009119 Pept_A1_BACE
     IPR001461 Aspartic_peptidase

    Graphical View of Domain Structure for InterPro Entry P56817

    ProtoNet protein and cluster: P56817

    2 Blocks protein domains:
    IPB001461 Pepsin (A1) aspartic protease family signature
    IPB009119 Beta-site APP cleaving enzyme (BACE) family signature


    UniProtKB/Swiss-Prot: BACE1_HUMAN, P56817
    Domain: The transmembrane domain is necessary for its activity. It determines its late Golgi localization and
    access to its substrate, APP
    Similarity: Belongs to the peptidase A1 family


    BACE1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BACE1_HUMAN, P56817
    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 soluble APP, and a corresponding cell-associated C-terminal fragment which
    is later released by gamma-secretase
    Catalytic activity: Broad endopeptidase specificity. Cleaves Glu-Val-Asn-Leu- -Asp-Ala-Glu-Phe in the Swedish
    variant of Alzheimer amyloid precursor protein
    Enzyme regulation: Inhibited by RTN3 and RTN4

         Enzyme Numbers (IUBMB): EC 3.4.23.461 2 EC 3.4.232

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004175endopeptidase activity ----
    GO:0004190aspartic-type endopeptidase activity IDA10531052
    GO:0008233peptidase activity ----
    GO:0008798beta-aspartyl-peptidase activity TAS10591214
    GO:0019899enzyme binding IPI12586838
         
    BACE1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for BACE1:
     Decreased influenza A virus in  Increased gamma-H2AX phosphory 

         10 MGI mutant phenotypes (inferred from 10 alleles(MGI details for Bace1):
     behavior/neurological  cellular  growth/size/body  integument  mortality/aging 
     muscle  nervous system  no phenotypic analysis  normal  other 

    BACE1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for BACE1: Bace1tm2Psa Bace1tm1.1Slr Bace1tm1Pcw Bace1tm1Nn Bace1tm1Vas Bace1tm1Psa

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BACE1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for BACE1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BACE1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BACE1

    miRNA
    Products:
        
    miRTarBase miRNAs that target BACE1:
    hsa-mir-19b-3p (MIRT001793), hsa-mir-9-5p (MIRT001736), hsa-mir-107 (MIRT000800), hsa-mir-29a-3p (MIRT001766), hsa-mir-17-5p (MIRT050944), hsa-mir-328-3p (MIRT000080), hsa-mir-29c-3p (MIRT020416), hsa-mir-124-3p (MIRT001825), hsa-mir-29b-3p (MIRT000930), hsa-mir-15a-5p (MIRT001802), hsa-mir-298 (MIRT000103), hsa-mir-26b-5p (MIRT030156)

    Block miRNA regulation of human, mouse, rat BACE1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BACE1 (see all 85):
    hsa-miR-3152-3p hsa-miR-15a hsa-miR-1224-3p hsa-miR-218-1* hsa-miR-128 hsa-miR-200a hsa-miR-374a hsa-miR-3150b-3p
    SwitchGear 3'UTR luciferase reporter plasmidBACE1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for BACE1
    Predesigned siRNA for gene silencing in human, mouse, rat BACE1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for BACE1

    Clone
    Products:
         
    OriGene clones in human, mouse for BACE1 (see all 23)
    OriGene ORF clones in mouse, rat for BACE1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): BACE1 (NM_138971)
    Sino Biological Human cDNA Clone for BACE1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BACE1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BACE1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for BACE1
    Browse ESI BIO Cell Lines and PureStem Progenitors for BACE1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BACE1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BACE1_HUMAN, P56817: Membrane; Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network.
    Endoplasmic reticulum. Endosome. Cell surface. Cytoplasmic vesicle membrane. Note=Predominantly localized to the
    later Golgi/trans-Golgi network (TGN) and minimally detectable in the early Golgi compartments. A small portion
    is also found in the endoplasmic reticulum, endosomes and on the cell surface
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    endosome5
    golgi apparatus5
    plasma membrane5
    extracellular2
    nucleus2
    peroxisome2
    cytoskeleton1
    lysosome1
    mitochondrion1
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005768endosome IDA10531052
    GO:0005783endoplasmic reticulum IEA--
    GO:0005794Golgi apparatus IDA10531052
    GO:0005802trans-Golgi network IDA11466313
    GO:0005887integral component of plasma membrane IDA12586838

    BACE1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for BACE1 About    
    See pathways by source

    SuperPathContained pathways About
    1Alzheimer's disease
    Alzheimers Disease0.44
    Alzheimer's disease0.44
    2Selected targets of GCR alpha
    Selected targets of GCR alpha
    3Neuroscience
    Neuroscience
    4A-beta Plaque Formation and APP Metabolism
    A-beta Plaque Formation and APP Metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for BACE1
        A-beta Plaque Formation & APP Metabolism

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for BACE1
        Alzheimers Disease Pathway
    Presenilin-Mediated Signaling

    1 Cell Signaling Technology (CST) Pathway for BACE1
        Neuroscience

    1 BioSystems Pathway for BACE1
        Alzheimers Disease



    1 Kegg Pathway  (Kegg details for BACE1):
        Alzheimer's disease


    BACE1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including BACE1: 
              Alzheimer's Disease in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for BACE1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for BACE1 (P568173 ENSP000003185854) via UniProtKB, MINT, STRING, and/or I2D (see all 37)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CMPK1P300853, ENSP000003609394I2D: score=2 STRING: ENSP00000360939
    ITM2CQ9NQX73, ENSP000003227304I2D: score=2 STRING: ENSP00000322730
    PSAPP076023, ENSP000003783944I2D: score=2 STRING: ENSP00000378394
    PSEN1P497683, ENSP000003263664I2D: score=2 STRING: ENSP00000326366
    RANBP9Q96S593, ENSP000000116194I2D: score=2 STRING: ENSP00000011619
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IDA10531052
    GO:0006509membrane protein ectodomain proteolysis TAS12354787
    GO:0050435beta-amyloid metabolic process IDA15080893

    BACE1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for BACE1
      Browse compounds at ApexBio 

    Browse Tocris compounds for BACE1

    Selected DrugBank Compounds for BACE1 (see all 26)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    MMI-175-- --target--17139284 17016423
    (2S)-1-(2,5-dimethylphenoxy)-3-morpholin-4-ylpropan-2-ol-- --target--10592235
    (2S)-4-(4-fluorobenzyl)-N-(2-sulfanylethyl)piperazine-2-carboxamide-- --target--10592235
    (2S)-4-(4-fluorobenzyl)-N-(3-sulfanylpropyl)piperazine-2-carboxamide-- --target--10592235
    (6R)-2-amino-6-[2-(3'-methoxybiphenyl-3-yl)ethyl]-3,6-dimethyl-5,6-dihydropyrimidin-4(3H)-one-- --target--10592235
    (6S)-2-amino-6-(3'-methoxybiphenyl-3-yl)-3,6-dimethyl-5,6-dihydropyrimidin-4(3H)-one-- --target--10592235
    2-amino-6-[2-(1H-indol-6-yl)ethyl]pyrimidin-4(3H)-one-- --target--10592235
    3-(2-AMINO-6-BENZOYLQUINAZOLIN-3(4H)-YL)-N-CYCLOHEXYL-N-METHYLPROPANAMIDE-- --target--10592235
    4-(2-aminoethyl)-2-cyclohexylphenol-- --target--10592235
    4-(2-aminoethyl)-2-ethylphenol-- --target--10592235

    Selected Novoseek inferred chemical compound relationships for BACE1 gene (see all 58)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vinyl alcohol 81 21 14695829 (3), 16451048 (2), 12206667 (1), 11966460 (1) (see all 8)
    isophthalamide 77.9 2 14695829 (1), 16510290 (1)
    happ 66.9 6 11141490 (2), 10818140 (1)
    statine 66.3 3 11784130 (1), 16574278 (1)
    allophenylnorstatine 55.8 1 15006396 (1)
    u18666a 53.4 2 12586838 (1), 18855586 (1)
    pyrrolidinone 47.4 1 16095294 (1)
    ethanolamine 36.2 5 12956063 (2), 19375914 (1), 15451669 (1), 19330459 (1)
    mannose 6-phosphate 35 2 15615712 (1)
    aspartate 34.1 9 20097169 (2), 19547991 (1), 19854048 (1), 11409035 (1) (see all 7)



    BACE1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for BACE1 gene (6 alternative transcripts): 
    NM_001207048.1  NM_001207049.1  NM_012104.4  NM_138971.3  NM_138972.3  NM_138973.3  

    Unigene Cluster for BACE1:

    Beta-site APP-cleaving enzyme 1
    Hs.504003  [show with all ESTs]
    Unigene Representative Sequence: AF201468
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000313005(uc001pqw.3 uc001pqx.3 uc001pqz.3 uc001pqy.3)
    ENST00000392937(uc010rxg.2 uc010rxh.2) ENST00000528053(uc001pra.1)
    ENST00000510630 ENST00000428381 ENST00000513780 ENST00000445823 ENST00000509916
    ENST00000530824 ENST00000510915 ENST00000504995 ENST00000514464
    miRNA
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    Block miRNA regulation of human, mouse, rat BACE1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BACE1 (see all 85):
    hsa-miR-3152-3p hsa-miR-15a hsa-miR-1224-3p hsa-miR-218-1* hsa-miR-128 hsa-miR-200a hsa-miR-374a hsa-miR-3150b-3p
    SwitchGear 3'UTR luciferase reporter plasmidBACE1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for BACE1
    Predesigned siRNA for gene silencing in human, mouse, rat BACE1
    Clone
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    OriGene clones in human, mouse for BACE1 (see all 23)
    OriGene ORF clones in mouse, rat for BACE1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): BACE1 (NM_138971)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BACE1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BACE1
    Primer
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    OriGene qPCR primer pairs and template standards for BACE1
    OriGene qSTAR qPCR primer pairs in human, mouse for BACE1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BACE1
      QuantiTect SYBR Green Assays in human, mouse, rat BACE1
      QuantiFast Probe-based Assays in human, mouse, rat BACE1

    Additional mRNA sequence: 

    AB032975.2 AB050436.1 AB050437.1 AB050438.1 AB177847.1 AF161367.1 AF190725.1 AF200193.1 
    AF200343.1 AF201468.1 AF204943.1 AF324837.1 AF338816.1 AF338817.1 AF527782.1 AK075049.1 
    AK296015.1 AK296535.1 AL833810.1 BC036084.1 BC065492.1 

    12 DOTS entries:

    DT.455355  DT.97774156  DT.92440695  DT.95199476  DT.92440687  DT.100811167  DT.100811168  DT.100706776 
    DT.100735795  DT.100739577  DT.92440693  DT.97799788 

    Selected AceView cDNA sequences (see all 406):

    BF684068 AW082260 CA429347 AB050436 F09798 BU732785 T31207 CQ824593 
    F01374 AI874047 AI216609 BQ005204 AB050437 NM_138973 AA973564 CD671916 
    BQ639006 CQ824592 AI630762 CA395893 AB050438 BM679750 BQ018588 F10602 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for BACE1 (see all 13)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b · 10c · 10d · 10e ^ 11 ^ 12 ^ 13a · 13b · 13c ^
    SP1:              -     -           -     -     -                 -                 -                 -     -                 -     -                           
    SP2:              -     -           -     -     -           -     -                 -                 -     -                 -     -                           
    SP3:              -     -           -     -     -           -     -     -           -                 -     -                 -     -                           
    SP4:              -     -           -     -     -                 -     -           -                 -     -                 -     -                           
    SP5:                                            -                 -                 -                 -     -                 -     -                           

    ExUns: 14a · 14b · 14c
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for BACE1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    BACE1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGGAATTGG
    BACE1 Expression
    About this image


    BACE1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Epithelial Cells
             Outer Root Sheath Cells Outer Root Sheath
     
     Hair (Integumentary System)
             Outer Root Sheath Cells Outer Root Sheath
     
     Pancreas (Endocrine System)
     
     Spinal Cord (Nervous System)
    BACE1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BACE1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.504003

    UniProtKB/Swiss-Prot: BACE1_HUMAN, P56817
    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

        Pathway & Disease-focused RT2 Profiler PCR Array including BACE1: 
              Alzheimer's Disease in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for BACE1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bace11 , 5 beta-site APP cleaving enzyme 11, 5 91.08(n)1
    96.41(a)1
      9 (25.22 cM)5
    238211  NM_011792.51  NP_035922.41 
     458385805 
    chicken
    (Gallus gallus)
    Aves BACE11 beta-site APP-cleaving enzyme 1 82.36(n)
    87.68(a)
      419768  XM_417908.4  XP_417908.3 
    lizard
    (Anolis carolinensis)
    Reptilia BACE16
    beta-site APP-cleaving enzyme 1
    87(a)
    1 ↔ 1
    AAWZ02038905(5294-8906)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia bace11 beta-site APP-cleaving enzyme 1 72.79(n)
    80(a)
      779940  NM_001079017.1  NP_001072485.1 
    zebrafish
    (Danio rerio)
    Actinopterygii bace11 beta-site APP-cleaving enzyme 1 71.95(n)
    76.83(a)
      403005  NM_205704.1  NP_991267.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG171346
    Bace6
    (see all 11)
    beta-site APP-cleaving enzyme
    (see all 11)
    25(a)
    24(a)
    (see all 11)
    many ↔ many
    many ↔ many
    (see all 11)
    2L(10820710-10821968)
    2L(8495108-8496307)
    worm
    (Caenorhabditis elegans)
    Secernentea asp-156
    asp-186
    (see all 16)
    Protein ASP-18 (asp-18) mRNA, complete cds
    (see all 16)
    21(a)
    20(a)
    (see all 16)
    many ↔ many
    many ↔ many
    (see all 16)
    V(19043215-19044853) WBGene00012681
    V(18730174-18731679) WBGene00013973
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PEP46
    Vacuolar aspartyl protease (proteinase A), require...
    22(a)
    1 → many
    XVI(259714-260931) YPL154C


    ENSEMBL Gene Tree for BACE1 (if available)
    TreeFam Gene Tree for BACE1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BACE1 gene
    CTSD2  PGA32  BACE22  NAPSA2  CTSE2  PGC2  PGA52  REN2  
    PGA42  
    3 SIMAP similar genes for BACE1 using alignment to 7 protein entries:     BACE1_HUMAN (see all proteins):
    BACE    KIAA1149    BACE2

    BACE1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for BACE1 (see all 564)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1392974201,2
    C--117156920(+) GGGAAA/GAATGG 6 -- ut310--------
    rs1418534661,2
    --117156972(+) TATAAA/GTCACT 6 -- ut310--------
    rs289895151,2
    C,F,H--117156994(-) CCTGAT/CAGCTA 6 -- ut318Minor allele frequency- C:0.01NS NA 292
    rs289895141,2
    C,F,H--117157024(-) CAATAA/GGCAGA 6 -- ut3112Minor allele frequency- G:0.03NS NA WA 984
    rs1887169281,2
    --117157129(+) ATGGCC/GTCAGC 6 -- ut310--------
    rs604476291,2
    C,F--117157195(+) ACTGAC/TTCCAG 6 -- ut311Minor allele frequency- T:0.04WA 118
    rs2010578431,2
    --117157232(+) GCTGA-/TTTTTT 6 -- ut310--------
    rs289895131,2
    C,F,H--117157320(-) TCATTT/CAGTTG 6 -- ut319Minor allele frequency- C:0.01NS NA 658
    rs289895121,2
    C,F--117157325(-) GGAGAT/ACATTT 6 -- ut315Minor allele frequency- A:0.00NS 188
    rs6495551,2
    C,F--117157378(+) TGCCTG/ATCACC 6 -- ut31 ese318Minor allele frequency- A:0.02NS NA WA CSA EA 602

    HapMap Linkage Disequilibrium report for BACE1 (117156402 - 117186975 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for BACE1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2672663CNV Deletion23128226
    nsv509443CNV Insertion20534489
    dgv246n67CNV Loss20364138
    nsv516483CNV Gain19592680

    Human Gene Mutation Database (HGMD): BACE1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BACE1
    DNA2.0 Custom Variant and Variant Library Synthesis for BACE1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604252    OMIM disorders: --

    Selected diseases for BACE1 (see all 27):    
    About MalaCards
    myositis    hypohidrotic ectodermal dysplasia    memory impairment    achromatopsia
    cerebrovascular disease    inclusion body myositis    frontotemporal dementia    cerebritis
    ectodermal dysplasia    alzheimer's disease    brain disease    teratocarcinoma
    dementia    traumatic brain injury    down syndrome    amyloidosis
    brain injury    pheochromocytoma    migraine    ischemia

    1 disease from the University of Copenhagen DISEASES database for BACE1:
    Alzheimer's disease

    BACE1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for BACE1 gene (see all 26)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alzheimers disease 92.3 415 11922623 (4), 17576410 (3), 12941471 (3), 12445809 (3) (see all 99)
    senile plaques 89.8 53 14645205 (1), 15466887 (1), 17080204 (1), 17174011 (1) (see all 41)
    neurofibrillary tangles 64.8 1 15677864 (1)
    amyloid deposition 57.4 7 15452128 (1), 12223024 (1), 17258906 (1), 15642747 (1) (see all 5)
    neurodegeneration 57.2 7 16027115 (2), 17576410 (1), 18480253 (1), 15156067 (1) (see all 6)
    neuropathology 54.6 2 16901640 (1), 16387391 (1)
    amyloidosis 49.3 11 19011241 (1), 20371462 (1), 17258906 (1), 18353773 (1) (see all 7)
    dementia 45.7 3 16470248 (1), 16901640 (1), 18695061 (1)
    brain diseases 42.7 6 16027115 (1), 15670741 (1), 12941471 (1), 17511655 (1) (see all 5)
    down syndrome 37.1 10 15473697 (2), 19840121 (1), 18163181 (1), 17121991 (1) (see all 7)

    Genetic Association Database (GAD): BACE1
    Human Genome Epidemiology (HuGE) Navigator: BACE1 (30 documents)

    Export disorders for BACE1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for BACE1 gene, integrated from 10 sources (see all 606):
    (articles sorted by number of sources associating them with BACE1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Beta-secretase cleavage of Alzheimer's amyloid precursor protein by the transmembrane aspartic protease BACE. (PubMed id 10531052)1, 2, 3, 9 Vassar R.... Citron M. (Science 1999)
    2. The transmembrane domain of the Alzheimer's beta-secretase (BACE1) determines its late Golgi localization and access to beta -amyloid precursor protein (APP) substrate. (PubMed id 11466313)1, 2, 9 Yan R.... Xu H. (J. Biol. Chem. 2001)
    3. Mapping of interaction domains mediating binding between BACE1 and RTN/Nogo proteins. (PubMed id 16979658)1, 2, 9 He W.... Yan R. (J. Mol. Biol. 2006)
    4. Human aspartic protease memapsin 2 cleaves the beta-secretase site of beta-amyloid precursor protein. (PubMed id 10677483)1, 2, 9 Lin X.... Tang J. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    5. Reticulons RTN3 and RTN4-B/C interact with BACE1 and inhibit its ability to produce amyloid beta-protein. (PubMed id 16965550)1, 2, 9 Murayama K.S.... Araki W. (Eur. J. Neurosci. 2006)
    6. Biochemical and structural characterization of the interaction of memapsin 2 (beta-secretase) cytosolic domain with the VHS domain of GGA proteins. (PubMed id 14567678)1, 2, 9 He X.... Tang J. (Biochemistry 2003)
    7. The disulphide bonds in the catalytic domain of BACE are critical but not essential for amyloid precursor protein processing activity. (PubMed id 11953458)1, 2, 9 Fischer F.... Paganetti P. (J. Neurochem. 2002)
    8. Polymorphism in the BACE gene influences the risk for Alzheimer's disease. (PubMed id 12824768)1, 4, 9 Kirschling C.M....Heun R. (Neuroreport 2003)
    9. APP and BACE1 miRNA genetic variability has no major role in risk for Alzheimer disease. (PubMed id 19462468)1, 4, 9 Bettens K....Van Broeckhoven C. (Hum. Mutat. 2009)
    10. Purification and cloning of amyloid precursor protein beta-secretase from human brain. (PubMed id 10591214)1, 2, 9 Sinha S.... Varghese J. (Nature 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23621 HGNC: 933 AceView: BACE1 Ensembl:ENSG00000186318 euGenes: HUgn23621
    ECgene: BACE1 Kegg: 23621 H-InvDB: BACE1

    (According to HUGE)
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    HUGE: KIAA1149

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for BACE1 Pharmacogenomics, SNPs, Pathways
    NIEHS-SNPshttp://egp.gs.washington.edu/data/bace1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BACE1 gene:
    Search GeneIP for patents involving BACE1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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