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BACE1 Gene(Protein Coding)

Beta-Secretase 1

GCID:
GC11M117285
GIFtS:
51
Genes Participants
UDN Logo

Aliases for BACE1 Gene

Aliases for BACE1 Gene

  • Beta-Secretase 1 2 3 3 5
  • Membrane-Associated Aspartic Protease 2 3 4
  • Beta-Site APP Cleaving Enzyme 1 3 4
  • Beta-Site APP-Cleaving Enzyme 2 3
  • Aspartyl Protease 2 3 4
  • 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 1 2
  • APP Beta-Secretase 3
  • EC 3.4.23.46 4
  • 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-Secretase 1) is a Protein Coding gene. Diseases associated with BACE1 include Alzheimer Disease and Autonomic Nervous System Neoplasm. Among its related pathways are A-beta Signaling Pathways and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include enzyme binding and endopeptidase activity. An important paralog of this gene is BACE2.

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

Additional gene information for BACE1 Gene

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

Genomics for BACE1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for BACE1 Gene

Promoters and enhancers for BACE1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH11J117314 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 657.3 +0.5 489 2.6 PKNOX1 ZFP64 ARID4B SIN3A ZNF2 ZNF48 YY1 ETS1 GLIS2 ZNF143 BACE1 GC11M117315 GC11P117316 CEP164 ENSG00000250699
GH11J117295 Promoter/Enhancer 0.7 EPDnew dbSUPER 650.3 +20.7 20666 0.1 ENSG00000276505 BACE1 GC11P117291
GH11J117229 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 12.1 +84.5 84457 5.3 ATF1 FOXA2 ARNT ZFP64 ARID4B SIN3A YY1 POLR2B GLIS2 ZNF213 PCSK7 RNF214 LOC653303 BACE1 APOA1 ENSG00000280143
GH11J117273 Enhancer 0.9 Ensembl ENCODE 15.7 +42.1 42059 1.6 ZBTB21 JUN INSM2 MZF1 ZNF2 HIC1 ZNF324 ZNF335 ZNF366 SCRT2 RNF214 BACE1 PCSK7 CEP164 LOC653303 PIR36792 ENSG00000252992
GH11J117327 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 5.3 -12.0 -11959 2.2 HDGF PKNOX1 ARNT ARID4B SIN3A ZBTB7B YY1 POLR2B ZNF766 ZNF207 ENSG00000250699 CEP164 RNF214 BUD13 ZPR1 PCSK7 ENSG00000252992 RPS27P19 BACE1 GC11M117336
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BACE1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BACE1 gene promoter:
  • p53
  • YY1

Genomic Locations for BACE1 Gene

Genomic Locations for BACE1 Gene
chr11:117,285,207-117,316,259
(GRCh38/hg38)
Size:
31,053 bases
Orientation:
Minus strand
chr11:117,156,402-117,186,975
(GRCh37/hg19)
Size:
30,574 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 Structure • Gene Density

RefSeq DNA sequence for BACE1 Gene

Proteins for BACE1 Gene

Products:

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  • 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:
    55764 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

    UniProtKB/Swiss-Prot:

neXtProt entry for BACE1 Gene

Protein Expression for BACE1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for BACE1 Gene

  • N-Glycosylated.
  • 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.
  • Palmitoylation mediates lipid raft localization.
  • Glycosylation at posLast=354354, posLast=223223, posLast=172172, and Asn153
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • BACE1_HUMAN (71, 72)

Other Protein References for BACE1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BACE1 Gene

Domains & Families for BACE1 Gene

Gene Families for BACE1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for BACE1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for BACE1 Gene

GenScript: Design optimal peptide antigens:

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.
Family:
  • Belongs to the peptidase A1 family.
genes like me logo Genes that share domains with BACE1: view

Function for BACE1 Gene

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  2. CRISPR
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Molecular function for BACE1 Gene

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.
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.

Enzyme Numbers (IUBMB) for BACE1 Gene

Phenotypes From GWAS Catalog for BACE1 Gene

Gene Ontology (GO) - Molecular Function for BACE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 amyloid-beta binding IPI 16407538
GO:0004175 endopeptidase activity IEA --
GO:0004190 aspartic-type endopeptidase activity IDA,IEA 10531052
GO:0005515 protein binding IPI 16407538
GO:0008233 peptidase activity IDA 8562317
genes like me logo Genes that share ontologies with BACE1: view
genes like me logo Genes that share phenotypes with BACE1: view

Animal Models for BACE1 Gene

MGI Knock Outs for BACE1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BACE1

Clone Products

No data available for 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. Membrane raft. 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BACE1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
golgi apparatus 5
endosome 5
mitochondrion 3
cytosol 3
extracellular 2
cytoskeleton 2
peroxisome 2
nucleus 2
lysosome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BACE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IDA,IEA 10531052
GO:0005769 early endosome IDA 24305806
GO:0005770 late endosome IDA 24612608
GO:0005771 multivesicular body IDA 24612608
GO:0005783 endoplasmic reticulum IEA --
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
2 BioSystems pathways for BACE1 Gene
2 Reactome pathways for BACE1 Gene
1 KEGG pathway for BACE1 Gene
1 Cell Signaling Technology pathway for BACE1 Gene

Gene Ontology (GO) - Biological Process for BACE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA,IDA 10531052
GO:0006509 membrane protein ectodomain proteolysis TAS 12354787
GO:0030163 protein catabolic process IBA --
GO:0044267 cellular protein metabolic process TAS --
GO:0050435 amyloid-beta metabolic process IDA 15080893
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

Products:

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

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

(29) 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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for BACE1 Gene

(6) REFSEQ mRNAs :
(21) Additional mRNA sequences :
(406) Selected AceView cDNA sequences:
(12) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BACE1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BACE1

Clone Products

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

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BACE1 Gene

mRNA expression in normal human tissues for BACE1 Gene
mRNA expression by BioGPS for BACE1 GenemRNA expression by GTEx 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 and MOPED for BACE1 Gene



Protein tissue co-expression partners for BACE1 Gene

NURSA nuclear receptor signaling pathways regulating expression of BACE1 Gene:

BACE1

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.

Evidence on tissue expression from TISSUES for BACE1 Gene

  • Nervous system(5)
  • Pancreas(4.6)
  • Lung(4.5)
  • Eye(2.9)
  • Adrenal gland(2.1)
  • Blood(2.1)
  • Kidney(2.1)
  • Liver(2.1)
  • Heart(2)
  • Muscle(2)
genes like me logo Genes that share expression patterns with BACE1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for BACE1 Gene

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 34 33
  • 99.87 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia BACE1 34
  • 94 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia BACE1 34 33
  • 93.66 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia BACE1 34 33
  • 92.95 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Bace1 33
  • 91.35 (n)
mouse
(Mus musculus)
 Mammalia Bace1 16 34 33
  • 91.08 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia BACE1 34
  • 90 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves BACE1 34 33
  • 82.36 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia BACE1 34
  • 87 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia bace1 33
  • 72.79 (n)
zebrafish
(Danio rerio)
 Actinopterygii bace1 33
  • 71.95 (n)
CABZ01088933.1 34
  • 65 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta CG17134 34
  • 25 (a)
 ManyToMany
Bace 34
  • 24 (a)
 ManyToMany
CG6508 34
  • 22 (a)
 ManyToMany
CG5863 34
  • 22 (a)
 ManyToMany
CG5860 34
  • 22 (a)
 ManyToMany
CG31926 34
  • 22 (a)
 ManyToMany
pcl 34
  • 20 (a)
 ManyToMany
CG31661 34
  • 20 (a)
 ManyToMany
CG31928 34
  • 20 (a)
 ManyToMany
CG17283 34
  • 20 (a)
 ManyToMany
CG33128 34
  • 19 (a)
 ManyToMany
worm
(Caenorhabditis elegans)
 Secernentea asp-15 34
  • 21 (a)
 ManyToMany
asp-18 34
  • 20 (a)
 ManyToMany
asp-16 34
  • 20 (a)
 ManyToMany
asp-5 34
  • 20 (a)
 ManyToMany
asp-1 34
  • 19 (a)
 ManyToMany
asp-9 34
  • 19 (a)
 ManyToMany
asp-17 34
  • 18 (a)
 ManyToMany
asp-6 34
  • 18 (a)
 ManyToMany
asp-13 34
  • 18 (a)
 ManyToMany
asp-12 34
  • 17 (a)
 ManyToMany
asp-7 34
  • 17 (a)
 ManyToMany
asp-19 34
  • 17 (a)
 ManyToMany
asp-10 34
  • 15 (a)
 ManyToMany
asp-14 34
  • 14 (a)
 ManyToMany
asp-8 34
  • 14 (a)
 ManyToMany
asp-2 34
  • 12 (a)
 ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes PEP4 34
  • 22 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 37 (a)
 OneToMany
Species where no ortholog for BACE1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for BACE1: view image

Paralogs for BACE1 Gene

Paralogs for BACE1 Gene

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

  • BACE1_HUMAN
  • B7Z3Z4_HUMAN
  • E9PJG7_HUMAN
  • H0YDX0_HUMAN
  • Q6YBQ9_HUMAN
  • Q8IYC8_HUMAN
  • U3KPS1_HUMAN
genes like me logo Genes that share paralogs with BACE1: view

Variants for BACE1 Gene

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Sequence variations from dbSNP and Humsavar for BACE1 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000048066 -- 117,299,994(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000073886 -- 117,307,881(-) T/C/G genic_upstream_transcript_variant, intron_variant
rs1000323636 -- 117,294,235(-) A/G intron_variant
rs1000331382 -- 117,317,117(-) G/T upstream_transcript_variant
rs1000432389 -- 117,311,214(-) G/C genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
dgv246n67 CNV loss 20364138
esv2672663 CNV deletion 23128226
esv3627847 CNV loss 21293372
nsv1038815 CNV gain 25217958
nsv509443 CNV insertion 20534489
nsv516483 CNV gain 19592680

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)

Additional Variant Information for BACE1 Gene

Human Gene Mutation Database (HGMD)
BACE1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BACE1

SNP Genotyping and Copy Number Assay Products

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

Disorders for BACE1 Gene

MalaCards: The human disease database

(30) MalaCards diseases for BACE1 Gene - From: LncRNADisease, HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
alzheimer disease
  • ad
autonomic nervous system neoplasm
  • tumor of autonomic nervous system
peripheral nervous system neoplasm
  • neoplasm of peripheral nerve
chromosomal disease
  • chromosomal disorders
central nervous system disease
  • central nervous system diseases
- elite association - COSMIC cancer census association via MalaCards
Search BACE1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BACE1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (New York, N.Y.) 1999) 2 3 4 22 58
  2. Two endoplasmic reticulum (ER)/ER Golgi intermediate compartment-based lysine acetyltransferases post-translationally regulate BACE1 levels. (PMID: 19011241) Ko MH … Puglielli L (The Journal of biological chemistry 2009) 3 4 22 58
  3. A reversible form of lysine acetylation in the ER and Golgi lumen controls the molecular stabilization of BACE1. (PMID: 17425515) Costantini C … Puglielli L (The Biochemical journal 2007) 3 4 22 58
  4. Reticulons RTN3 and RTN4-B/C interact with BACE1 and inhibit its ability to produce amyloid beta-protein. (PMID: 16965550) Murayama KS … Araki W (The European journal of neuroscience 2006) 3 4 22 58
  5. Mapping of interaction domains mediating binding between BACE1 and RTN/Nogo proteins. (PMID: 16979658) He W … Yan R (Journal of molecular biology 2006) 3 4 22 58

Products for BACE1 Gene

Sources for BACE1 Gene

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