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Aliases for BACE1 Gene

Aliases for BACE1 Gene

  • Beta-Site APP-Cleaving Enzyme 1 2 3 5
  • Membrane-Associated Aspartic Protease 2 3 4
  • Beta-Site APP Cleaving Enzyme 1 3 4
  • Aspartyl Protease 2 3 4
  • EC 3.4.23.46 4 63
  • Memapsin-2 3 4
  • Asp 2 3 4
  • BACE 3 4
  • ASP2 3 4
  • Beta-Site Amyloid Beta A4 Precursor Protein-Cleaving Enzyme 3
  • Beta-Site Amyloid Precursor Protein Cleaving Enzyme 1 4
  • Transmembrane Aspartic Proteinase Asp2 3
  • Beta-Secretase 1 Precursor Variant 1 3
  • Beta-Site APP-Cleaving Enzyme 2
  • APP Beta-Secretase 3
  • EC 3.4.23 63
  • KIAA1149 4
  • HSPC104 3

External Ids for BACE1 Gene

Previous HGNC Symbols for BACE1 Gene

  • BACE

Previous GeneCards Identifiers for BACE1 Gene

  • GC11M116695
  • GC11M116661
  • GC11M117156
  • GC11M113090

Summaries for BACE1 Gene

Entrez Gene Summary for BACE1 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. This transmembrane protease catalyzes the first step in the formation of amyloid beta peptide from amyloid precursor protein. Amyloid beta peptides are the main constituent of amyloid beta plaques, which accumulate in the brains of human Alzheimer's disease patients. [provided by RefSeq, Nov 2015]

GeneCards Summary for BACE1 Gene

BACE1 (Beta-Site APP-Cleaving Enzyme 1) is a Protein Coding gene. Diseases associated with BACE1 include alzheimer disease and balanoposthitis. Among its related pathways are Alzheimers Disease Pathway and Transport to the Golgi and subsequent modification. GO annotations related to this gene include enzyme binding and endopeptidase activity. An important paralog of this gene is REN.

UniProtKB/Swiss-Prot for BACE1 Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BACE1 Gene

Genomics for BACE1 Gene

Regulatory Elements for BACE1 Gene

Promoters for BACE1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BACE1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the BACE1 gene promoter:

Genomic Location for BACE1 Gene

Chromosome:
11
Start:
117,285,207 bp from pter
End:
117,316,259 bp from pter
Size:
31,053 bases
Orientation:
Minus strand

Genomic View for BACE1 Gene

Genes around BACE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BACE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BACE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BACE1 Gene

Proteins for BACE1 Gene

  • Protein details for BACE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P56817-BACE1_HUMAN
    Recommended name:
    Beta-secretase 1
    Protein Accession:
    P56817
    Secondary Accessions:
    • A0M8W7
    • B0YIU9
    • E9PE65
    • H7BXJ9
    • Q9BYB9
    • Q9BYC0
    • Q9BYC1
    • Q9UJT5
    • Q9ULS1

    Protein attributes for BACE1 Gene

    Size:
    501 amino acids
    Molecular mass:
    55711 Da
    Quaternary structure:
    • Monomer. Interacts with GGA1, GGA2 and GGA3. Interacts with RTN3 and RTN4. Interacts with SNX6. Interacts with PCSK9. Interacts with NAT8 and NAT8B.
    SequenceCaution:
    • Sequence=BAA86463.2; Type=Frameshift; Positions=34; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BACE1 Gene

    Alternative splice isoforms for BACE1 Gene

neXtProt entry for BACE1 Gene

Proteomics data for BACE1 Gene at MOPED

Post-translational modifications for BACE1 Gene

  • Acetylated in the endoplasmic reticulum at Lys-126, Lys-275, Lys-279, Lys-285, Lys-299, Lys-300 and Lys-307. Acetylation by NAT8 and NAT8B is transient and deacetylation probably occurs in the Golgi. Acetylation regulates the maturation, the transport to the plasma membrane, the stability and the expression of the protein.
  • N-Glycosylated.
  • Glycosylation at Asn 153, Asn 172, Asn 223, and Asn 354
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for BACE1 (BACE)

Protein Products

Domains & Families for BACE1 Gene

Graphical View of Domain Structure for InterPro Entry

P56817

UniProtKB/Swiss-Prot:

BACE1_HUMAN :
  • The transmembrane domain is necessary for its activity. It determines its late Golgi localization and access to its substrate, APP.
  • Belongs to the peptidase A1 family.
Domain:
  • The transmembrane domain is necessary for its activity. It determines its late Golgi localization and access to its substrate, APP.
  • Contains 1 peptidase A1 domain.
Family:
  • Belongs to the peptidase A1 family.
genes like me logo Genes that share domains with BACE1: view

No data available for Gene Families for BACE1 Gene

Function for BACE1 Gene

Molecular function for BACE1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Broad endopeptidase specificity. Cleaves Glu-Val-Asn-Leu- -Asp-Ala-Glu-Phe in the Swedish variant of Alzheimers amyloid precursor protein.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by RTN3 and RTN4.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for BACE1 Gene

genes like me logo Genes that share phenotypes with BACE1: view

Animal Models for BACE1 Gene

MGI Knock Outs for BACE1:

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BACE1 Gene

Localization for BACE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BACE1 Gene

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
Jensen Localization Image for BACE1 Gene COMPARTMENTS Subcellular localization image for BACE1 gene
Compartment Confidence
endoplasmic reticulum 5
endosome 5
golgi apparatus 5
plasma membrane 5
cytosol 3
mitochondrion 3
cytoskeleton 2
extracellular 2
lysosome 2
nucleus 2
peroxisome 2
vacuole 2

Gene Ontology (GO) - Cellular Components for BACE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IDA 10531052
GO:0005770 late endosome IDA 24612608
GO:0005771 multivesicular body IDA 24612608
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005802 trans-Golgi network IDA 11466313
genes like me logo Genes that share ontologies with BACE1: view

Pathways & Interactions for BACE1 Gene

genes like me logo Genes that share pathways with BACE1: view

Pathways by source for BACE1 Gene

1 GeneTex pathway for BACE1 Gene
1 BioSystems pathway for BACE1 Gene
2 Reactome pathways for BACE1 Gene
1 KEGG pathway for BACE1 Gene

Gene Ontology (GO) - Biological Process for BACE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006509 membrane protein ectodomain proteolysis TAS 12354787
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with BACE1: view

No data available for SIGNOR curated interactions for BACE1 Gene

Drugs & Compounds for BACE1 Gene

(74) Drugs for BACE1 Gene - From: Novoseek, DGIdb, DrugBank, and ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
(2S)-1-(2,5-dimethylphenoxy)-3-morpholin-4-ylpropan-2-ol Experimental Pharma Target 0
(2S)-4-(4-fluorobenzyl)-N-(2-sulfanylethyl)piperazine-2-carboxamide Experimental Pharma Target 0
(2S)-4-(4-fluorobenzyl)-N-(3-sulfanylpropyl)piperazine-2-carboxamide Experimental Pharma Target 0
(6R)-2-amino-6-[2-(3'-methoxybiphenyl-3-yl)ethyl]-3,6-dimethyl-5,6-dihydropyrimidin-4(3H)-one Experimental Pharma Target 0
(6S)-2-amino-6-(3'-methoxybiphenyl-3-yl)-3,6-dimethyl-5,6-dihydropyrimidin-4(3H)-one Experimental Pharma Target 0

(33) Additional Compounds for BACE1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with BACE1: view

Transcripts for BACE1 Gene

Unigene Clusters for BACE1 Gene

Beta-site APP-cleaving enzyme 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BACE1 Gene

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: - - - - - - -
SP6: - - - - -
SP7: - -
SP8: - - - -
SP9: - -
SP10: -
SP11:
SP12: - - -
SP13:

ExUns: 14a · 14b · 14c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for BACE1 Gene

GeneLoc Exon Structure for
BACE1
ECgene alternative splicing isoforms for
BACE1

Expression for BACE1 Gene

mRNA expression in normal human tissues for BACE1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BACE1 Gene

This gene is overexpressed in Pancreas (x5.6) and Brain - Spinal cord (cervical c-1) (x5.6).

Protein differential expression in normal tissues from HIPED for BACE1 Gene

This gene is overexpressed in Plasma (49.6) and Fetal Brain (14.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for BACE1 Gene



SOURCE GeneReport for Unigene cluster for BACE1 Gene Hs.504003

mRNA Expression by UniProt/SwissProt for BACE1 Gene

P56817-BACE1_HUMAN
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.
genes like me logo Genes that share expression patterns with BACE1: view

Protein tissue co-expression partners for BACE1 Gene

Primer Products

In Situ Assay Products

Orthologs for BACE1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for BACE1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BACE1 36
  • 100 (a)
OneToOne
BACE1 35
  • 99.87 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia BACE1 35
  • 92.95 (n)
  • 98.2 (a)
BACE1 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BACE1 35
  • 93.66 (n)
  • 99.48 (a)
BACE1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bace1 16
Bace1 36
  • 96 (a)
OneToOne
Bace1 35
  • 91.08 (n)
  • 96.41 (a)
oppossum
(Monodelphis domestica)
Mammalia BACE1 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BACE1 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bace1 35
  • 91.35 (n)
  • 96.41 (a)
chicken
(Gallus gallus)
Aves BACE1 36
  • 87 (a)
OneToOne
BACE1 35
  • 82.36 (n)
  • 87.68 (a)
lizard
(Anolis carolinensis)
Reptilia BACE1 36
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bace1 35
  • 72.79 (n)
  • 80 (a)
zebrafish
(Danio rerio)
Actinopterygii bace1 35
  • 71.95 (n)
  • 76.83 (a)
CABZ01088933.1 36
  • 65 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Bace 36
  • 24 (a)
ManyToMany
CG17134 36
  • 25 (a)
ManyToMany
CG17283 36
  • 20 (a)
ManyToMany
CG31661 36
  • 20 (a)
ManyToMany
CG31926 36
  • 22 (a)
ManyToMany
CG31928 36
  • 20 (a)
ManyToMany
CG33128 36
  • 19 (a)
ManyToMany
CG5860 36
  • 22 (a)
ManyToMany
CG5863 36
  • 22 (a)
ManyToMany
CG6508 36
  • 22 (a)
ManyToMany
pcl 36
  • 20 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea asp-1 36
  • 19 (a)
ManyToMany
asp-10 36
  • 15 (a)
ManyToMany
asp-12 36
  • 17 (a)
ManyToMany
asp-13 36
  • 18 (a)
ManyToMany
asp-14 36
  • 14 (a)
ManyToMany
asp-15 36
  • 21 (a)
ManyToMany
asp-16 36
  • 20 (a)
ManyToMany
asp-17 36
  • 18 (a)
ManyToMany
asp-18 36
  • 20 (a)
ManyToMany
asp-19 36
  • 17 (a)
ManyToMany
asp-2 36
  • 12 (a)
ManyToMany
asp-5 36
  • 20 (a)
ManyToMany
asp-6 36
  • 18 (a)
ManyToMany
asp-7 36
  • 17 (a)
ManyToMany
asp-8 36
  • 14 (a)
ManyToMany
asp-9 36
  • 19 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEP4 36
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
OneToMany
Species with no ortholog for BACE1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BACE1 Gene

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

Paralogs for BACE1 Gene

Paralogs for BACE1 Gene

(3) SIMAP similar genes for BACE1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with BACE1: view

Variants for BACE1 Gene

Sequence variations from dbSNP and Humsavar for BACE1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_051509 -
rs28989503 - 117,293,100(-) CATTG(C/T)GCGGG reference, missense
rs486307 -- 117,301,681(-) actgg(A/G)aggca intron-variant
rs476469 -- 117,302,844(-) gcaat(A/G)gcacg intron-variant
rs507805 -- 117,296,431(+) CACCT(A/G)GAGTG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for BACE1 Gene

Variant ID Type Subtype PubMed ID
nsv516483 CNV Gain 19592680
nsv509443 CNV Insertion 20534489
esv2672663 CNV Deletion 23128226
dgv246n67 CNV Loss 20364138

Variation tolerance for BACE1 Gene

Residual Variation Intolerance Score: 20.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.09; 22.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BACE1 Gene

HapMap Linkage Disequilibrium report
BACE1
Human Gene Mutation Database (HGMD)
BACE1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BACE1 Gene

Disorders for BACE1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for BACE1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
alzheimer disease
  • alzheimer disease, late-onset
balanoposthitis
  • balanoposthitis of animal
tracheitis
  • acute tracheitis
inclusion body myositis
  • distal myopathy with rimmed vacuoles
cystoisosporiasis
  • infection by isospora belli and isospora hominis
- elite association - COSMIC cancer census association via MalaCards
Search BACE1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for BACE1

Genetic Association Database (GAD)
BACE1
Human Genome Epidemiology (HuGE) Navigator
BACE1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BACE1
genes like me logo Genes that share disorders with BACE1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BACE1 Gene

Publications for BACE1 Gene

  1. Beta-secretase cleavage of Alzheimer's amyloid precursor protein by the transmembrane aspartic protease BACE. (PMID: 10531052) Vassar R. … Citron M. (Science 1999) 2 3 4 23 67
  2. Increased BACE1 mRNA and noncoding BACE1-antisense transcript in sporadic inclusion-body myositis muscle fibers--possibly caused by endoplasmic reticulum stress. (PMID: 20236612) Nogalska A. … Askanas V. (Neurosci. Lett. 2010) 3 23
  3. Alzheimer disease Abeta production in the absence of S-palmitoylation-dependent targeting of BACE1 to lipid rafts. (PMID: 19074428) Vetrivel K.S. … Thinakaran G. (J. Biol. Chem. 2009) 3 23
  4. Inhibition by KMI-574 leads to dislocalization of BACE1 from lipid rafts. (PMID: 18798280) Ebina M. … Ishiura S. (J. Neurosci. Res. 2009) 3 23
  5. Two endoplasmic reticulum (ER)/ER Golgi intermediate compartment-based lysine acetyltransferases post-translationally regulate BACE1 levels. (PMID: 19011241) Ko M.H. … Puglielli L. (J. Biol. Chem. 2009) 3 23

Products for BACE1 Gene

Sources for BACE1 Gene

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