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BACE1 Gene

protein-coding   GIFtS: 64

GC11M117156
beta-site APP-cleaving enzyme 1
(Previous name: beta-site APP-cleaving enzyme )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: BACE)
"" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""Services    
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Aliases &
Descriptions
for BACE1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

  User Feedback
Aliases & Descriptions
beta-site APP-cleaving enzyme 11 2     beta-secretase 12
BACE2 3 5     beta-site amyloid beta A4 precursor protein-cleaving enzyme2
Beta-site amyloid precursor protein cleaving enzyme 12 3     APP beta-secretase2
Aspartyl protease 22 3     memapsin-22
Membrane-associated aspartic protease 22 3     HSPC1042
Asp 22 3     transmembrane aspartic proteinase Asp22
Beta-site APP cleaving enzyme 12 3     FLJ905682
ASP22 3     EC 3.4.23.463
KIAA11492 3     Memapsin-23
beta-site APP-cleaving enzyme1     

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

Search outside databases for aliases for BACE1 gene

Previous GC identifers: GC11M116695 GC11M116661

Summaries
for BACE1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

  User Feedback		 Entrez Gene summary for BACE1:
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. Four transcript variants encoding
different isoforms have been described for this gene. (provided by RefSeq)

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)

Genomic Views
for BACE1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC and Ensembl (release 56), Regulatory elements and Epigenetics data according to SABiosciences)
About This Section

  User Feedback		 Regulatory elements:
"" SABiosciences Regulatory transcription factor binding sites in the BACE1 gene upstream (promoter) region "":
NF-kappaB1   STAT1   STAT1beta   STAT1alpha   YY1   Sp1   IRF-1   MIF-1   STAT3   E47   

Epigenetics:
"" SABiosciences Methyl-Profiler DNA Methylation qPCR Primer Assays for BACE1:  ""
MePH15934-1A   

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)
""

GeneLoc gene densities for chromosome 11         GeneLoc Exon Structure

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

Start:
 117,156,414 bp from pter
End:
 117,186,972 bp from pter
Size:
 30,559 bases
Orientation:
 minus strand
RefSeq DNA sequence:
NC_000011.9  NT_033899.8  

Proteins
for BACE1 gene

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene, Novus Biologicals, and/or Sino Biological,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 May 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abnova, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

  User Feedback		 UniProtKB/Swiss-Prot: BACE1_HUMAN, P56817 (See protein sequence)
Recommended Name: Beta-secretase 1 precursor  
Size: 501 amino acids; 55764 Da
Subunit: Monomer. Interacts with GGA1, GGA2 and GGA3. Interacts with RTN3 and RTN4
Subcellular location: Membrane; Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network. Endoplasmic
reticulum. Endosome. Cell surface. 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
Sequence caution: Sequence=BAA86463.2; Type=Frameshift; Positions=34;
PDB structures from "" and Proteopedia "" :
1FKN (3D) ""    1M4H (3D) ""    1PY1 (3D) ""    1SGZ (3D) ""    1TQF (3D) ""    1UJJ (3D) ""    1UJK (3D) ""    1W50 (3D) ""    
1W51 (3D) ""    1XN2 (3D) ""    1XN3 (3D) ""    1XS7 (3D) ""    1YM2 (3D) ""    1YM4 (3D) ""    2B8L (3D) ""    2B8V (3D) ""    
2F3E (3D) ""    2F3F (3D) ""    2FDP (3D) ""    2G94 (3D) ""    2HIZ (3D) ""    2HM1 (3D) ""    2IQG (3D) ""    2IRZ (3D) ""    
2IS0 (3D) ""    2NTR (3D) ""    2OAH (3D) ""    2OF0 (3D) ""    2OHK (3D) ""    2OHL (3D) ""    2OHM (3D) ""    2OHN (3D) ""    
2OHP (3D) ""    2OHQ (3D) ""    2OHR (3D) ""    2OHS (3D) ""    2OHT (3D) ""    2OHU (3D) ""    2P4J (3D) ""    2P83 (3D) ""    
2P8H (3D) ""    2PH6 (3D) ""    2PH8 (3D) ""    2Q11 (3D) ""    2Q15 (3D) ""    2QK5 (3D) ""    2QMD (3D) ""    2QMF (3D) ""    
2QMG (3D) ""    2QP8 (3D) ""    2QU2 (3D) ""    2QU3 (3D) ""    2QZK (3D) ""    2QZL (3D) ""    2VA5 (3D) ""    2VA6 (3D) ""    
2VA7 (3D) ""    2VIE (3D) ""    2VIJ (3D) ""    2VIY (3D) ""    2VIZ (3D) ""    2VJ6 (3D) ""    2VJ7 (3D) ""    2VJ9 (3D) ""    
2VKM (3D) ""    2VNM (3D) ""    2VNN (3D) ""    2WEZ (3D) ""    2WF0 (3D) ""    2WF1 (3D) ""    2WF2 (3D) ""    2WF3 (3D) ""    
2WF4 (3D) ""    2WJO (3D) ""    2ZDZ (3D) ""    2ZE1 (3D) ""    2ZHR (3D) ""    2ZHS (3D) ""    2ZHT (3D) ""    2ZHU (3D) ""    
2ZHV (3D) ""    2ZJH (3D) ""    2ZJI (3D) ""    2ZJJ (3D) ""    2ZJK (3D) ""    2ZJL (3D) ""    2ZJM (3D) ""    2ZJN (3D) ""    
3BRA (3D) ""    3BUF (3D) ""    3BUG (3D) ""    3BUH (3D) ""    3CIB (3D) ""    3CIC (3D) ""    3CID (3D) ""    3CKP (3D) ""    
3CKR (3D) ""    3DM6 (3D) ""    3DUY (3D) ""    3DV1 (3D) ""    3DV5 (3D) ""    3EXO (3D) ""    3FKT (3D) ""    3H0B (3D) ""    
3HVG (3D) ""    3HW1 (3D) ""    3IGB (3D) ""    3IN3 (3D) ""    3IN4 (3D) ""    3IND (3D) ""    3INE (3D) ""    3INF (3D) ""    
3INH (3D) ""    3IVH (3D) ""    3IVI (3D) ""    3IXJ (3D) ""    3K5C (3D) ""    3KMX (3D) ""    3KMY (3D) ""    3KN0 (3D) ""    
3L58 (3D) ""    3L59 (3D) ""    3L5B (3D) ""    3L5C (3D) ""    3L5D (3D) ""    3L5E (3D) ""    3L5F (3D) ""    
Secondary accessions: A0M8W7 B0YIU9 Q9BYB9 Q9BYC0 Q9BYC1 Q9UJT5 Q9ULS1
Alternative splicing: 4 isoforms:  P56817-1   P56817-2   P56817-3   P56817-4   

Post-translational modifications:

  • Glycosylated1
  • View phosphorylation sites using PhosphoSite2


    • REFSEQ proteins (4 alternative transcripts): 
    NP_036236.1  NP_620427.1  NP_620428.1  NP_620429.1  


    ENSEMBL proteins: 
    ENSP00000318585 ENSP00000376667 ENSP00000403685 ENSP00000402228 ENSP00000292095 


    Human Recombinant Proteins 
    ""Millipore Purified and/or Recombinant BACE1 Protein
    ""Sigma-Aldrich Proteins and CompoZr ZFN for BACE1
    ""R&D Systems Recombinant & Natural Proteins for BACE1 (BACE-1)
    ""Enzo Life Sciences proteins for BACE1
    ""HuPro® and/or Recombinant Proteins from Abnova for BACE1 ""
    "" Origene Purified Recombinant Human Protein: BACE1
    ""Novus Biologicals Protein for BACE1  ""
    ""Sino Biological Recombinant Protein for BACE1  ""

    5/11 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 11 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624 membrane fraction IEA--
    GO:0005768 endosome IDA10531052
    GO:0005783 endoplasmic reticulum IEA--
    GO:0005794 Golgi apparatus IDA10531052 11466313
    GO:0005802 trans-Golgi network IDA11466313
    About this table

    "" BACE1 for ontologies           About GeneDecksing



    Antibodies for BACE1: 
    ""Millipore Mono- and Polyclonal Antibodies for the study of BACE1
    ""Sigma-Aldrich Antibody Arrays and Antibodies for BACE1
    ""R&D Systems Antibodies for BACE1 (BACE-1)
    ""Cell Signaling Technology (CST) Antibodies for BACE1 
    ""Monoclonal and Polyclonal Antibodies from Abnova (BACE1)
    ""Browse Origene Antibodies ""
    ""Novus Biologicals Antibodies for BACE1
    ""Epitomics antibodies for BACE1

    Assays for BACE1: 
    ""Browse Kits and Assays available from Millipore
    ""Sigma-Aldrich ELISAs for BACE1
    "" Browse R&D Systems for biochemical assays
    ""Enzo Life Sciences assays for BACE1

    Protein Domains/
    Families
    for BACE1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

      User Feedback
    "" BACE1 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6 ):
     IPR021109 Peptidase_aspartic
     IPR009007 Peptidase_aspartic_catalytic
     IPR001969 Peptidase_aspartic_AS
     IPR009120 Pept_A1_BACE1
     IPR009119 Pept_A1_BACE

    Graphical View of Domain Structure for InterPro Entry P56817

    ProtoNet protein and cluster: P56817

    2 Blocks protein families:
    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

    Gene Function
    for BACE1 gene

    (According to MGI May 08 2010, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, Abnova, siRNAs from Applied Biosystems, Sigma-Aldrich, Clones from Millipore, Sigma-Aldrich, OriGene, Sino Biological, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene.)
    About This Section

      User Feedback
    Inhib.
    RNA:    		""Browse for Gene Knock-down Tools from Millipore
    ""Abnova Chimera RNAi Products for Gene knock-down (BACE1)
    "" Origene 29mer shRNA kits in GFP-retroviral vector (see all 4): BACE1
    Origene shRNA RFP (see all 4): BACE1
    Origene basic RS shRNA (see all 4): BACE1

    ""Applied Biosystems Silencer® siRNAs for BACE1
    ""Sigma-Aldrich siRNA Panels and siRNA for BACE1
    Sigma-Aldrich shRNA for BACE1
    Explore Sigma-Aldrich super-pooled esiRNAs
    Clones:""Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    ""Browse iPSC Reprogramming Factors at Sigma-Aldrich
    "" Origene GFP tagged cDNA clones in CMV expression vector (see all 4): BACE1
    Origene Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): BACE1
    Origene untagged cDNA clones in CMV expression vector (see all 4): BACE1
    ""Sino Biological Human cDNA Clone for BACE1  ""

    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
    Catalytic activity: Broad endopeptidase specificity. Cleaves Glu-Val-Asn-Leu- -Asp-Ala-Glu-Phe in the Swedish variant
    of Alzheimer's amyloid precursor protein
    Enzyme regulation: Inhibited by RTN3 and RTN4
    Enzyme Number (IUBMB): EC 3.4.23.46 

    4 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004190 aspartic-type endopeptidase activity IDA10531052
    GO:0005515 protein binding IPI10531052
    GO:0008233 peptidase activity IEA--
    GO:0008798 beta-aspartyl-peptidase activity TAS10591214
    About this table

    "" BACE1 for ontologies           About GeneDecksing

    Animal Models: 10 MGI mutant phenotypes (inferred from 14 alleles"") (MGI details for Bace1):

    behavior/neurologicalcellulargrowth/sizelethality-postnatalmuscle
    nervous systemno phenotypic analysisnormalothertouch/vibrissae

    "" BACE1 for phenotypes           About GeneDecksing

    Pathways & Interactions
    for BACE1 gene

    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, Applied Biosystems GeneAssist, KEGG and/or UniProtKB, (map by GeneGo),
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene).
    About This Section

      User Feedback
    "" BACE1 for pathways           About GeneDecksing

    1 "" Millipore Pathway for BACE1
      ""  Selected targets of GCR-alpha

    3 "" Sigma-Aldrich "Your Favorite Gene" Pathways for  BACE1  (Your Favorite Gene powered by Ingenuity)
      ""  Amyloid Processing
    Mitochondrial Dysfunction
    Lysine Degradation

    2 "" GeneAssist Pathways for BACE1
      ""  Presenilin-Mediated Signaling
    Alzheimer's Disease Pathway

    1 "" Kegg Pathway  (Kegg details for BACE1):
      ""  hsa05010 Alzheimer's disease

    "" SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BACE1

    2 Interacting proteins for BACE1 (ENSP000003185853 P568171) via UniProtKB, MINT, and/or STRING ""
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APPP050671STRING: ENSP00000284981 EBI-2433297,EBI-77613
    BACE2ENSP000003329793STRING: ENSP00000332979
    About this table

    3 Gene Ontology (GO) biological process terms (GO ID links to tree view):

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

    "" BACE1 for ontologies           About GeneDecksing


    Drugs & Compounds
    for BACE1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

      User Feedback
    "" BACE1 for compounds           About GeneDecksing

    "" Enzo Life Sciences drugs & compounds for BACE1
    ""Sigma-Aldrich Small Molecules for BACE1:
    Small Molecule - Inhibitor

    "" Browse Tocris compounds for BACE1
    10/204 ""Novoseek chemical compound relationships for BACE1 gene (see all 204 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    jmv-1195 9.18 3 15753947 (3)
    heparan sulfate 8.89 19 14530380 (7), 17080204 (5), 17004727 (2), 16246059 (2) (see all 7)
    isophthalamide 7.80 3 17432843 (1), 16510290 (1), 14695829 (1)
    bm 15766 7.49 3 17472704 (3)
    polyvinyl alcohol 5.91 12 14695829 (3), 16451048 (2), 16302802 (2), 19169270 (1) (see all 8)
    4-hydroxynonenal 5.53 11 15659232 (5), 12270690 (4), 20026385 (1), 16769154 (1)
    sapp 4.83 3 8863493 (1), 18374657 (1), 12480937 (1)
    epiberberine 4.82 2 19652386 (2)
    piperlonguminine 4.35 2 19777802 (2)
    ca-074 me 4.33 2 19064719 (1), 18184658 (1)
    About this table


    Transcripts
    for BACE1 gene

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 223 Homo sapiens; Apr 2 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Primers from OriGene and/or SABiosciences,
    Expression Assays from Applied Biosystems)
    About This Section

      User Feedback
    Inhib.
    RNA:    		""Browse for Gene Knock-down Tools from Millipore
    ""Abnova Chimera RNAi Products for Gene knock-down (BACE1)
    ""Applied Biosystems Silencer® siRNAs:  NM_012104  NM_138971  NM_138972  NM_138973  
    "" Origene 29mer shRNA kits in GFP-retroviral vector (see all 4): BACE1
    Origene shRNA RFP (see all 4): BACE1
    Origene basic RS shRNA (see all 4): BACE1

    ""Sigma-Aldrich siRNA Panels and siRNA for BACE1
    Sigma-Aldrich shRNA for BACE1
    Explore Sigma-Aldrich super-pooled esiRNAs

    microRNA:""10/28 SABiosciences microRNAs that regulate BACE1 (see all 28 ): ""
    hsa-miR-15a hsa-miR-24-1* hsa-miR-29c hsa-miR-29a hsa-miR-200a hsa-miR-374a hsa-miR-30a* hsa-miR-141 hsa-miR-424 hsa-miR-124
    Assays:  ""Applied Biosystems TaqMan® Gene Expression Assays:  
    NM_012104  NM_138971  NM_138972  NM_138973  


    Clones:"" Origene GFP tagged cDNA clones in CMV expression vector (see all 4): BACE1
    Origene Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): BACE1
    Origene untagged cDNA clones in CMV expression vector (see all 4): BACE1
    Primers:"" Origene genome-wide validated SYBR primer pairs: BACE1
    ""SABiosciences RT2 qPCR Primer Assay for BACE1: PPH05965A ""

    REFSEQ mRNAs for BACE1 gene (4 alternative transcripts): 

    NM_012104.3  NM_138971.2  NM_138972.2  NM_138973.2  

    Additional cDNA sequence: 

    AB032975.2 AB050436.1 AB050437.1 AB050438.1 AB089958.1 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 

    24/406 AceView cDNA sequences (see all 406 ):

    BF089765 CB043979 AB050437 AF200343 BX499314 AI081812 AI911581 BI029094 
    AA703165 AB032975 BE464938 AI784615 BX472189 BE296749 NM_138971 BM679750 
    CA416204 BQ639006 AW952340 F10602 AI654166 BE551871 BM698975 AW069659 

    "" highest scoring ESTs for BACE1:

    AB032975 AB050436 AB050437 AB050438 AB089958 AF190725 AF200193 AF200343 AF201468 AF204943 

    Unigene Cluster for BACE1:

    Beta-site APP-cleaving enzyme 1
    Hs.504003  [show with all ESTs]
    Unigene Representative Sequence: AF201468


    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for BACE1 (see all 13 )

    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:                  

    About this scheme

    ECgene alternative splicing isoforms for BACE1

    5 Ensembl transcripts including schematic representations:
    ENST00000313005  ENST00000392937  ENST00000445823  ENST00000428381  ENST00000292095  

    Expression
    for BACE1 gene

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 223 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems, Primers from OriGene and/or SABiosciences )
    About This Section

      User Feedback

    BACE1 expression in normal and diseased human tissues

    "" Applied Biosystems TaqMan ® Gene Expression Assays for BACE1

    1""  / 2""  / 3""

    10 probe-sets matching BACE1 gene

    Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    44849_at2, 3 U95-B 1 0.88 1.00 1.00 0.92 AI356651 0.80 1.00 0.91 1
    45790_at2, 3 U95-B 1 0.81 1.00 1.00 1.08 N31914 0.80 1.00 0.91 1
    222463_s_at2, 3 U133-B 1 1.00 1.00 -- -- AF190725 0.80 1.00 0.91 1
    222462_s_at2, 3 U133-B 1 0.91 1.00 -- -- AI653425 0.60 1.00 0.82 1
    217904_s_at2, 3 U133-A 1 0.82 1.00 -- -- NM_012104 0.60 1.00 0.82 1
    224335_s_at2, 3 U133-B 1 0.82 1.00 -- -- AB050436 0.80 1.00 0.91 1
    222463_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    222462_s_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
    217904_s_at2 U133Plus2 1 0.82 1.00 -- -- -- -- -- -- --
    224335_s_at2 U133Plus2 1 0.82 1.00 -- -- -- -- -- -- --
    About this table

    "" BACE1 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: GAGGAATTGG

    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

    Primers:"" Origene genome-wide validated SYBR primer pairs: BACE1 ""
    ""SABiosciences RT2 qPCR Primer Assay for BACE1: PPH05965A ""

    Orthologs
    for BACE1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI May 08 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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    Orthologs for BACE1 gene from 5/7 species (see all 7 )
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 BACE11   -- beta-site APP-cleaving enzyme 1 92.49(n)
    96.95(a)    		 489390  XM_546508.2  XP_546508.2 
    chimpanzee
    (Pan troglodytes)    		 BACE11   -- beta-site APP-cleaving enzyme 1 99.87(n)
    100(a)    		 451573  XM_001158428.1  XP_001158428.1 
    cow
    (Bos taurus)    		 BACE11   -- beta-site APP-cleaving enzyme 1 92.95(n)
    98.2(a)    		 614333  NM_001046531.1  NP_001039996.1 
    rat
    (Rattus norvegicus)    		 Bace11   -- beta-site APP cleaving enzyme 1 91.35(n)
    96.41(a)    		 29392  NM_019204.1  NP_062077.1 
    mouse
    (Mus musculus)    		 Bace11, 5 95
    		 beta-site APP cleaving enzyme 11, 5 91.02(n)1
    96.21(a)1    		 238211  NM_011792.41  NP_035922.31 
     AF1907265  AF2003465  (see all 31)
    About this table        Species with no ortholog for BACE1

    ENSEMBL Gene Tree for BACE1

    Paralogs
    for BACE1 gene

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
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    Paralogs for BACE1 gene
    NAPSB2  PGA52  CTSD2  BACE22  PGA32  NAPSA2  REN2  CTSE2  
    PGC2  

    "" BACE1 for paralogs           About GeneDecksing


    Genomic Variants
    for BACE1 gene

    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Genotyping Reagents from Applied Biosystems)
    About This Section

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    10/58 NCBI SNPs in BACE1 are shown (see all 58 )
    (Click "" for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 94)
    ABGenomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 11 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    ""
    rs4812851,2
    		C,F,A,H117159070(+) AGGCAA/GTGAAA 4 -- ut31 ese3""14Minor allele frequency- G:0.05NA NS EA 812""
    ""
    rs5397651,2
    		C,F,H117160347(+) GCAGCG/ACCACT 8 /R /C ref1 mis1""7Minor allele frequency- A:0.01MN NS NA 336""
    ""
    rs5358601,2
    		C,F,A117159878(+) CTGCCA/TGGGTA 4 -- ut31 ese3""17Minor allele frequency- T:0.13MN NA NS EA WA 1126""
    ""
    rs6495551,2
    		C,F117157378(+) TGCCTG/ATCACC 4 -- ut31 ese3""10Minor allele frequency- A:0.03NS NA 306""
    ""
    rs5368171,2
    		C,F113121487(-) CTTTCA/GTCCTG 4 -- ng51""8Minor allele frequency- G:0.02EA NA NS WA 522""
    ""
    rs10478571,2
    		C,F117158858(-) CTTTTT/CCCCCT 4 -- ut31 ese3 trp3""8Minor allele frequency- C:0.06NS NA 304""
    ""
    rs10616591,2
    		H117160434(-) CAGATG/TAGTCA 8 E X ref1 non1 ese3""5Minor allele frequency- T:0.00MN NS EA 584""
    ""
    rs6384051,2
    		C,F,A,H117163824(+) ATGATG/CACCTC 8 /V syn1 ref1 ese3""29Minor allele frequency- C:0.42MN EA NA NS WA 3600""
    ""
    rs4904601,2
    		C,F,O,A,H113097906(-) GGTAAT/GAAAAC 4 -- int1""21Minor allele frequency- G:0.24EA NA MN NS 1208""
    ""
    rs5228431,2
    		C,F,O,A,H113109980(-) GATGAA/GGCTGA 4 -- int1""17Minor allele frequency- N:0.01MN NS EA NA WA 1448""
    About this table

    HapMap Linkage Disequilibrium images for BACE1 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)  ""
          Database of Genomic Variants (DGV) variations for BACE1: --

    Disorders & Mutations
    for BACE1 gene

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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    "" BACE1 for disorders           About GeneDecksing

    OMIM: 604252

    10/93 ""Novoseek disease relationships for BACE1 gene (see all 93 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    ad 100.00 695 15677864 (8), 12707937 (7), 17548753 (6), 14978286 (6) (see all 100)
    senile plaque 58.78 57 11391698 (4), 15677864 (2), 14991462 (2), 20297736 (1) (see all 52)
    amyloidogenesis 19.30 13 18680556 (2), 16354928 (2), 11839594 (2), 19760173 (1) (see all 10)
    familial alzheimer disease 13.78 14 11744168 (4), 19196715 (2), 8632167 (1), 20205669 (1) (see all 10)
    mild; cognitive impairment 11.53 21 17548753 (7), 17986817 (4), 18695061 (2), 18631949 (2) (see all 9)
    amyloid deposition 10.01 11 15509532 (2), 20384814 (1), 20092570 (1), 18413858 (1) (see all 10)
    neuroblastoma 6.07 29 16901640 (2), 9315893 (1), 9152995 (1), 19885829 (1) (see all 28)
    impairment; memory 5.78 15 14715132 (3), 17258906 (2), 16420434 (2), 20089133 (1) (see all 11)
    alzheimer disease, early-onset 5.30 5 7489411 (1), 20080541 (1), 19804379 (1), 11684351 (1) (see all 5)
    amyloidosis 3.84 12 17596707 (2), 16354928 (2), 20371462 (1), 19011241 (1) (see all 10)
    About this table

    Human Gene Mutation Database: BACE1
    Genetic Association Database: BACE1
    Human Genome Epidemiology Navigator: BACE1 (24 documents)

    Medical News
    for BACE1 gene

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      User Feedback    		   --

    Publications
    for BACE1 gene

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

      User Feedback    		10/487 PubMed articles for BACE1 gene (see all 487 ):

    Search for BACE1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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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)

    Genome Databases showing BACE1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

      User Feedback
    Entrez Gene: 23621 HGNC: 933 AceView: BACE1 Ensembl:ENSG00000186318 euGenes: HUgn23621
    ECgene: BACE1 Kegg: 23621 H-InvDB: BACE1

    Other Databases showing BACE1 gene

    (According to HUGE)
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    HUGE: KIAA1149

    Specialized Databases showing BACE1 gene

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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    NameDescription
    NIEHS-SNPshttp://egp.gs.washington.edu/data/bace1/

    Intellectual Property
    for BACE1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section

      User Feedback    		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


    Services
    for BACE1 gene

    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Novus Biologicals,
    Epitomics, Sigma-Aldrich, R&D Systems, SABiosciences, Millipore, Abnova,
    Clones available from OriGene, Sigma-Aldrich, Sino Biological, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience)
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    ""
    Products for BACE1:
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     ""  ""
    "" Antibodies  "" Primer Pairs  
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    """"""""
    "" Antibodies & Assays for BACE1 

    "" Tagged/untagged cDNA clones
    "" Validated SYBR primer pairs
    "" Purified proteins from HEK293T cells
    "" Western blot validated antibodies
    "" shRNA in GFP-retroviral vector
    "" Custom immunoassay development
    "" Search Tocris compounds for BACE1
    "" Regulatory tfbs in BACE1 upstream (promoter) region
    "" Search Chromatin IP Primers for BACE1
    "" DNA Methylation qPCR Primer Assays for BACE1
    "" RT2 qPCR Primer Assay for BACE1
    "" GNC Network for BACE1
    "" microRNAs that regulate BACE1
    """"""""
    "" Assays/Drugs/Proteins for BACE1
    "" Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
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