BACE1 Gene
protein-coding GIFtS: 66
GCID: GC11M117156
|
|
beta-site APP-cleaving enzyme 1(Previous name: beta-site APP-cleaving enzyme )
(Previous symbol: BACE)
| |
Aliases
for BACE1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| 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-23 | | 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 |
Export aliases for BACE1 gene to outside databasesPrevious GC identifers: GC11M116695 GC11M116661 GC11M113090 |
Summaries
for BACE1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for BACE1:
Cerebral deposition of amyloid beta peptide is an early and critical feature of Alzheimer's disease. Amyloid betapeptide is generated by proteolytic cleavage of amyloid precursor protein (APP) by two proteases, one of which is theprotein encoded by this gene. The encoded protein, a member of the peptidase A1 protein family, is a type I integralmembrane glycoprotein and aspartic protease that is found mainly in the Golgi. Multiple transcript variants encodingdifferent isoforms have been described for this gene. (provided by RefSeq, May 2011)
UniProtKB/Swiss-Prot: BACE1_HUMAN, P56817Function: Responsible for the proteolytic processing of the amyloid precursor protein (APP). Cleaves at the N-terminusof the A-beta peptide sequence, between residues 671 and 672 of APP, leads to the generation and extracellular releaseof beta-cleaved soluble APP, and a corresponding cell-associated C-terminal fragment which is later released bygamma-secretase
Gene Wiki entry for BACE1 (Beta-secretase 1)
|
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 (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000011.9 NC_018922.1 NT_033899.8
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the BACE1 gene promoter:
p53 YY1
Other transcription factors
Search SABiosciences Chromatin IP Primers for BACE1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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-q24BACE1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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 |
|
Proteins
for BACE1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
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 withPCSK9
Subcellular location: Membrane; Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network. Endoplasmicreticulum. Endosome. Cell surface. Cytoplasmic vesicle membrane. Note=Predominantly localized to the laterGolgi/trans-Golgi network (TGN) and minimally detectable in the early Golgi compartments. A small portion is alsofound in the endoplasmic reticulum, endosomes and on the cell surface
Sequence caution: Sequence=BAA86463.2; Type=Frameshift; Positions=34;
6/238 PDB 3D structures from  and Proteopedia  for BACE1 (see all 238):1FKN (3D)
1M4H (3D)
1PY1 (3D)
1SGZ (3D)
1TQF (3D)
1UJJ (3D)
Secondary accessions: A0M8W7 B0YIU9 Q9BYB9 Q9BYC0 Q9BYC1 Q9UJT5 Q9ULS1Alternative splicing: 4 isoforms: P56817-1 P56817-2 P56817-3 P56817-4 Explore the universe of human proteins at neXtProt for BACE1: NX_P56817
Post-translational modifications:
Glycosylated1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P56817
4/7 DME Specific Peptides for BACE1 (P56817) (see all 7)
BACE1 Protein expression data from MOPED and PaxDb: About this image 
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 ENSP00000431848 ENSP00000422461 ENSP00000402228 ENSP00000424536 ENSP00000403685 ENSP00000437151 ENSP00000434486
Human Recombinant Protein Products:
Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10): About this table
BACE1 for ontologies About GeneDecksing
BACE1 Antibody Products:
Assay Products 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
|
BACE1 for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P56817ProtoNet 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, P56817Domain: The transmembrane domain is necessary for its activity. It determines its late Golgi localization and access toits substrate, APPSimilarity: Belongs to the peptidase A1 family |
Function
for BACE1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: BACE1_HUMAN, P56817Function: Responsible for the proteolytic processing of the amyloid precursor protein (APP). Cleaves at the N-terminusof the A-beta peptide sequence, between residues 671 and 672 of APP, leads to the generation and extracellular releaseof beta-cleaved soluble APP, and a corresponding cell-associated C-terminal fragment which is later released bygamma-secretaseCatalytic activity: Broad endopeptidase specificity. Cleaves Glu-Val-Asn-Leu- -Asp-Ala-Glu-Phe in the Swedish variantof Alzheimer amyloid precursor proteinEnzyme regulation: Inhibited by RTN3 and RTN4Enzyme Numbers (IUBMB): EC 3.4.23.461 2 EC 3.4.232
miRNA
Products: | | miRTarBase miRNAs that target BACE1:
hsa-mir-19b (MIRT001793), hsa-mir-9 (MIRT001736), hsa-mir-107 (MIRT000800), hsa-mir-29a (MIRT001766), hsa-mir-328 (MIRT000080), hsa-mir-124 (MIRT001825), hsa-mir-29b (MIRT000930), hsa-mir-15a (MIRT001802), hsa-mir-298 (MIRT000103) |
| |  | OriGene 3'-UTR Clone (see all 4): BACE1
Browse MicroRNA Expression Plasmids
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BACE1 | | | 8/85 QIAGEN miScript miRNA 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 plasmid: BACE1 3' UTR sequence |
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BACE1 (see all 7)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BACE1 (see all 4)
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 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BACE1 |
Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table
BACE1 for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for BACE1:
Animal Models:
Mouse knock-outs for BACE1: Bace1tm2Psa Bace1tm1.1Slr Bace1tm1Pcw Bace1tm1Nn Bace1tm1Vas Bace1tm1Psa
10 MGI mutant phenotypes (inferred from 10 alleles ) (MGI details for Bace1):
BACE1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for BACE1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | | | 2 | Neuroscience | | | 3 | Selected targets of GCR-alpha | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for BACE1
1 
Cell Signaling Technology (CST) Pathway for BACE1
1  BioSystems Pathway for BACE1
1 
Kegg Pathway (Kegg details for BACE1):
BACE1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BACE1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/26 Interacting proteins for BACE1 (P568173 ENSP000003185854) via UniProtKB, MINT, STRING, and/or I2D (see all 26)About this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table
BACE1 for ontologies About GeneDecksing
|
Drugs & Compounds
for BACE1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
BACE1 for compounds About GeneDecksing
 |
Enzo Life Sciences drugs & compounds for BACE1 |
 Browse Tocris compounds for BACE1
10/26 DrugBank Compounds for BACE1 (see all 26) About this table
10/58 Novoseek 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) |
Search CenterWatch for drugs/clinical trials and news about BACE1
|
Transcripts
for BACE1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
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: AF20146813 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 ENST00000530844 ENST00000510915 ENST00000504995 ENST00000514464
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BACE1 (see all 7)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BACE1 (see all 4)
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 |
Additional cDNA 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 24/406 AceView cDNA sequences (see all 406): AB050438 CQ824594 AI184285 CA424683 AB050436 F13007 F09798 BC065492 H51212 AI127822 BM995457 AW016716 CA429347 N64823 CB157364 NM_138973 BQ016753 N29007 AW082260 NM_012104 AF324837 CA395893 AI769238 CQ824593
GeneLoc Exon Structure
5/13 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
|
Expression
for BACE1 gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| BACE1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAGGAATTGG
About this image
See BACE1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BACE1
SOURCE GeneReport for Unigene cluster: Hs.504003
UniProtKB/Swiss-Prot: BACE1_HUMAN, P56817Tissue specificity: Expressed at high levels in the brain and pancreas. In the brain, expression is highest in thesubstantia nigra, locus coruleus and medulla oblongata
SABiosciences Expression via Pathway-Focused PCR Array including BACE1:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BACE1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat BACE1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BACE1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BACE1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BACE1 |
Orthologs
for BACE1 gene
(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)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for BACE1 gene from 5/20 species (see all 20) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
BACE11 |
beta-site APP-cleaving enzyme 1 |
82.09(n)
87.68(a) |
|
419768 XM_417908.3 XP_417908.3 |
lizard
(Anolis carolinensis) |
Reptilia |
BACE16 |
-- |
87(a) |
1 → many |
AAWZ02038905(5294-8783) |
zebrafish
(Danio rerio) |
Actinopterygii |
bace11 |
beta-site APP-cleaving enzyme 1 |
73.69(n)
79.36(a) |
|
403005 NM_205704.1 NP_991267.1 |
worm
(Caenorhabditis elegans) |
Secernentea |
K10C2.36 |
Protein K10C2.3 |
12(a) |
possible ortholog |
X(6444148-6446701) |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
AT1G691006 |
aspartic-type endopeptidase |
18(a) |
possible ortholog |
1(25979999-25981436) |
ENSEMBL Gene Tree for BACE1 (if available)
TreeFam Gene Tree for BACE1 (if available) |
Paralogs
for BACE1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for BACE1 gene
- CTSD2 PGA32 BACE22 NAPSA2 ENSG000002506442 CTSE2 PGC2 PGA52
- ENSG000002659692 REN2 PGA42
3 SIMAP similar genes for BACE1 using alignment to 9 protein entries: BACE1_HUMAN (see all proteins):BACE KIAA1149 BACE2
BACE1 for paralogs About GeneDecksing
|
Genomic Variants
for BACE1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 11 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for BACE1 (117156402 - 117186975 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for BACE1: --
Human Gene Mutation Database (HGMD): BACE1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BACE1 |
|
Disorders
/ Diseases
for BACE1 gene
(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.)
About This Section
|
BACE1 for disorders About GeneDecksing
OMIM gene information: 604252
OMIM disorders: --
20/28  diseases for BACE1 (see all 28): About MalaCardsalzheimer's disease cerebritis hypohidrotic ectodermal dysplasia inclusion body myositis
frontotemporal dementia traumatic brain injury brain injury ectodermal dysplasia
myositis gliosis cerebrovascular disease achromatopsia
down syndrome teratocarcinoma dementia amyloidosis
brain disease pheochromocytoma neurodegeneration migraine
1 disease from the University of Copenhagen DISEASES database for BACE1:Alzheimer's disease 10/26 Novoseek 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
|
Publications
for BACE1 gene (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)
About This Section
|
PubMed articles for BACE1 gene, integrated from 9 sources (see all 582):
(articles sorted by number of sources associating them with BACE1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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. (1999)
- 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. (2001)
- Mapping of interaction domains mediating binding between BACE1 and RTN/Nogo proteins. (PubMed id 16979658)1, 2, 9 He W.... Yan R. (2006)
- 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. (2000)
- 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. (2006)
- 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. (2003)
- 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. (2002)
- Polymorphism in the BACE gene influences the risk for Alzheimer's disease. (PubMed id 12824768)1, 4, 9 Kirschling C.M....Heun R. (2003)
- Purification and cloning of amyloid precursor protein beta-secretase from human brain. (PubMed id 10591214)1, 2, 9 Sinha S.... Varghese J. (1999)
- Genetic association of BACE1 gene polymorphism C786G with late-onset Alzheimer's disease in Chinese. (PubMed id 15784960)1, 4, 9 Kan R....Wang L. (2005)
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External Searches for BACE1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing BACE1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing BACE1 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing BACE1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for BACE1 | Pharmacogenomics, SNPs, Pathways | | NIEHS-SNPs | http://egp.gs.washington.edu/data/bace1/ |
|
| | |
About This Section
| 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
|
Products
for BACE1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
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