BACE1 Gene (Protein Coding)

Beta-Secretase 1

GCID:: GC11M117285

GIFtS:: 47

Genes Participants

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. Am... See more...

Aliases for BACE1 Gene

Beta-Secretase 1 ² ³ ⁴ 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
EC 3.4.23.46 ⁴ ⁵¹
Memapsin-2 ³ ⁴
Asp 2 ³ ⁴
ASP2 ³ ⁴
BACE 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 ⁵¹
KIAA1149 ⁴
HSPC104 ³
BACE1 ⁵

External Ids for BACE1 Gene

HGNC: 933
Entrez Gene: 23621
Ensembl: ENSG00000186318
OMIM: 604252
UniProtKB: P56817

Previous HGNC Symbols for BACE1 Gene

BACE

Previous GeneCards Identifiers for BACE1 Gene

GC11M116695
GC11M116661
GC11M117156
GC11M113090

Search aliases for BACE1 gene in PubMed and other databases

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 Tracheitis. Among its related pathways are Neuroscience and Copper homeostasis. 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 Summary 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 (PubMed:10656250, PubMed:10677483, PubMed:20354142). Cleaves CHL1 (By similarity).
- BACE1_HUMAN,P56817

Gene Wiki entry for BACE1 Gene

Additional gene information for BACE1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BACE1 Gene

Genomics for BACE1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data

Request up-to-date GeneHancer data

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
GH11J117314	Promoter/Enhancer	2.3	EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER	607.2	+0.7	721	3.1	HNRNPL CTCF PRDM10 ZNF692 ZNF7 FOXA1 PRDM1 ZNF143 ZIC2 POLR2A	BACE1 CEP164 lnc-PCSK7-2 lnc-RNF214-2 ENSG00000252992 PCSK7 RNF214 ENSG00000250699
GH11J117295	Promoter/Enhancer	0.5	EPDnew dbSUPER	600.4	+20.7	20666	0.1		ENSG00000276505 BACE1 lnc-PCSK7-4 CEP164 RNF214
GH11J117229	Promoter/Enhancer	2.1	EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER	12.1	+84.4	84394	5.5	BRCA1 SP1 CTCF PRDM10 IKZF1 POLR2A BACH1 JUND FOXA1 LARP7	PCSK7 RNF214 ENSG00000254851 BACE1 APOA1 lnc-BACE1-4 TAGLN
GH11J117273	Enhancer	0.9	Ensembl ENCODE	15.7	+42.1	42059	1.6	ZNF629 ZNF692 SCRT2 JUND CEBPB ZNF585B JUN FOS ZBTB17 TRIM28	RNF214 BACE1 PCSK7 CEP164 ENSG00000254851 MN298114-034 piR-32555
GH11J117327	Promoter/Enhancer	2.2	EPDnew Ensembl ENCODE CraniofacialAtlas	5.4	-12.0	-12006	2.3	SP1 CREB1 GATAD2A HNRNPL RFX1 IKZF1 RFX5 POLR2A FOS FOXA1	ENSG00000250699 CEP164 PCSK7 RNF214 ENSG00000252992 BACE1 lnc-BACE1-3 DSCAML1

- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BACE1

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

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:

11q23.3 by HGNC
11q23.3 by Entrez Gene
11q23.3 by Ensembl

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 — Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for BACE1 Gene

NC_000011.10

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:

55764 Da
Quaternary structure:
Monomer. Interacts (via DXXLL motif) with GGA1, GGA2 and GGA3 (via their VHS domain); the interaction highly increases when BACE1 is phosphorylated at Ser-498 (PubMed:14567678, PubMed:15886016). Interacts with RTN3 and RTN4 (PubMed:15286784, PubMed:16965550, PubMed:16979658). Interacts with SNX6 (PubMed:20354142). Interacts with PCSK9 (PubMed:18660751). Interacts with NAT8 and NAT8B (PubMed:19011241). Interacts with BIN1 (PubMed:27179792). Interacts (via extracellular domain) with ADAM10 (via extracellular domain) (By similarity). Interacts with SORL1; this interaction may affect binding with APP and hence reduce APP cleavage (PubMed:16407538).
SequenceCaution:
Sequence=BAA86463.2; Type=Frameshift; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for BACE1 Gene
- 1FKN (3D)
- 1M4H (3D)
- 1PY1 (3D)
- 1SGZ (3D)
- 1TQF (3D)
- 1UJJ (3D)
Alternative splice isoforms for BACE1 Gene
UniProtKB/Swiss-Prot:
P56817-1

P56817-2

P56817-3

P56817-4

P56817-5

P56817-6

neXtProt entry for BACE1 Gene

Protein Expression for BACE1 Gene

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

Selected DME Specific Peptides for BACE1 Gene

P56817:

SFRITILPQ
GIRLPLRSGL
EEPGRRGSFVEMVDNLRGKSGQGYYVEMT
ILVDTGSSNFAV
VEGPFVT
PLGLRLPRETDEE
DMEDCGYNIPQTDESTLMTIAYVMAAICALFMLPLCLMVC

Post-translational modifications for BACE1 Gene

N-Glycosylated (PubMed:11083922, PubMed:17425515). Addition of a bisecting N-acetylglucosamine by MGAT3 blocks lysosomal targeting, further degradation and is required for maintaining stability under stress conditions (By similarity).
- P56817-BACE1_HUMAN
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.
- P56817-BACE1_HUMAN
Palmitoylation mediates lipid raft localization.
- P56817-BACE1_HUMAN
Ubiquitinated at Lys-501, ubiquitination leads to lysosomal degradation (PubMed:27302062, PubMed:16033761, PubMed:20484053, PubMed:23109336). Monoubiquitinated and 'Lys-63'-linked polyubitinated (PubMed:20484053). Deubiquitnated by USP8; inhibits lysosomal degradation (PubMed:27302062).
- P56817-BACE1_HUMAN
Phosphorylation at Ser-498 is required for interaction with GGA1 and retrograded transport from endosomal compartments to the trans-Golgi network. Non-phosphorylated BACE1 enters a direct recycling route to the cell surface.
- P56817-BACE1_HUMAN
Glycosylation at Asn153, Asn172, Asn223, and Asn354
- NX_P56817 (NX_P56817-1)
Ubiquitination at Lys501
- NX_P56817 (NX_P56817-1)
Modification sites at PhosphoSitePlus
- P56817
Glycosylation from GlyConnect
- BACE1_HUMAN (71, 72)

Other Protein References for BACE1 Gene

ENSEMBL proteins:

REFSEQ proteins:

Antibody Products

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Human/Mouse BACE-1 Ectodomain Antibody (MAB931)

OriGene Antibodies for BACE1
- AP05096PU-N
- AP06371PU-N
- AP14565PU-N
- AP14566PU-N
- TA306033
- TA324168
- TA341059
- TA341171
- TA341891
- TA341892
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Novus Biologicals Antibodies for BACE1

Abcam antibodies for BACE1
- BACE1

Invitrogen Antibodies for BACE1 (AFLGC-BACE1)

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Biorbyt antibodies for BACE1
- orb10164
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Boster Bio Antibodies for BACE1
- A00322
- A00322-1
- A00322-2
- M00322

ProSci Antibodies for BACE1
- beta-site APP-cleaving enzyme 1
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Santa Cruz Biotechnology (SCBT) Antibodies for BACE1

Sino Biological Antibodies for BACE1

Protein Products

BioLegend

Recombinant Human BACE-1 Protein, CF (931-AS)

OriGene Purified Proteins for BACE1
- NM_012104
- NM_012104
- NM_138971
- NM_138973
- NM_138971
- NM_138973
- NM_012104
- NM_138971
- NM_138973
- NM_138971
- NM_138973
- NM_012104
- NM_011792
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Novus Biologicals proteins and lysates for BACE1

Sino Biological Recombinant Proteins for BACE1
Sino Biological Cell Lysates for BACE1

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antibodies-online: Show 32 available BACE Proteins ranked by validation data
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Signalway Proteins for BACE1
- AP78635
- GP10213

ProSci Proteins for BACE1

Abcam proteins for BACE1
- BACE1

Assay Products

G Biosciences Immunotag™ Human BACE1 (Beta-site APP Cleaving Enzyme 1) ELISA and Immunotag™ Beta-secretase 1 ELISA Kit

RayBiotech Human BACE-1 ELISA

Human BACE-1 DuoSet ELISA (DY931)

Novus Biologicals ELISA Kits for BACE1

antibodies-online: Show 70 available BACE Elisa Kits ranked by validation data
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Signalway ELISA kits for BACE1
- EK2174
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Abcam assays for BACE1
- Beta secretase

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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:

Pepsin (A1) aspartic protease family signature
Beta-site APP cleaving enzyme (BACE) family signature

ProtoNet:

P56817

Suggested Antigen Peptide Sequences for BACE1 Gene

GenScript: Design optimal peptide antigens:

cDNA FLJ54693, highly similar to Beta-secretase 1 (EC 3.4.23.46) (B7Z3Z4_HUMAN)
Membrane-associated aspartic protease 2 (BACE1_HUMAN)
KIAA1149 splice variant 1 (Q5W9H2_HUMAN)
BACE1 (Q6YBQ9_HUMAN)
Beta-site APP cleaving enzyme isoform I-127 (Q76KP0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P56817

UniProtKB/Swiss-Prot:

BACE1_HUMAN :

DXXLL motif is required for a proper endocytosis and retrograde transport to the trans-Golgi network, as well as for regulation of lysosomal degradation.
Belongs to the peptidase A1 family.

Domain:

DXXLL motif is required for a proper endocytosis and retrograde transport to the trans-Golgi network, as well as for regulation of lysosomal degradation.
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.

Function for BACE1 Gene

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 (PubMed:10656250, PubMed:10677483, PubMed:20354142). Cleaves CHL1 (By similarity).

BACE1_HUMAN,P56817

UniProtKB/Swiss-Prot CatalyticActivity:

Reaction=Broad endopeptidase specificity. Cleaves Glu-Val-Asn-Leu-|-Asp-Ala-Glu-Phe in the Swedish variant of Alzheimer's amyloid precursor protein.; EC=3.4.23.46; Evidence={ECO:0000269|PubMed:10677483};.

BACE1_HUMAN,P56817

UniProtKB/Swiss-Prot Induction:

Up-regulated by the Ca(2+)-regulated transcription factor NFATC4.

BACE1_HUMAN,P56817

UniProtKB/Swiss-Prot BiophysicochemicalProperties:

Kinetic parameters: KM=15.2 mM for APP cleaved by PSEN1 (at pH4) {ECO:0000269|PubMed:10677483}; KM=1 mM for APP Swedish variant (at pH4) {ECO:0000269|PubMed:10677483}; Note=kcat is 0.67 sec(-1) and 2.45 sec(-1) for APP cleaved by PSEN1 and APP Swedish variant, respectively (PubMed:10677483). {ECO:0000269|PubMed:10677483};

BACE1_HUMAN,P56817

UniProtKB/Swiss-Prot EnzymeRegulation:

Inhibited by RTN3 and RTN4.

BACE1_HUMAN,P56817

Enzyme Numbers (IUBMB) for BACE1 Gene

EC 3.4.23 ⁵¹
EC 3.4.23.46 ⁵¹ ⁴

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	IDA	10677483
GO:0004190	aspartic-type endopeptidase activity	IEA,IDA	10531052
GO:0005515	protein binding	IPI	10677483
GO:0008233	peptidase activity	IDA	8562317

Phenotypes for BACE1 Gene

MGI mutant phenotypes for BACE1:

inferred from 10 alleles

GenomeRNAi human phenotypes for BACE1:

Animal Models for BACE1 Gene

MGI Knock Outs for BACE1:

Bace1 ^{Bace1<tm1Pcw>}
Bace1 ^{Bace1<tm1Psa>}
Bace1 ^{Bace1<tm1.1Slr>}
Bace1 ^{Bace1<tm1Bux>}
Bace1 ^{Bace1<tm1Vas>}
Bace1 ^{Bace1<tm2Slr>}
Bace1 ^Bace1<tm1Nn>
Bace1 ^{Bace1<tm1Cdi>}
Bace1 ^{Bace1<tm2Psa>}

Animal Model Products

Taconic Biosciences Mouse Models for BACE1

CRISPR Products

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OriGene CRISPR knockouts for BACE1
- GA108440
- GA204766
- KN409115
- KN501950

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Santa Cruz Biotechnology (SCBT) CRISPR for BACE1

miRNA for BACE1 Gene

miRTarBase miRNAs that target BACE1

miRNA Products

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Inhibitory RNA Products

Origene shrna, sirna, and RNAi products in human, mouse, rat for BACE1
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Clone Products

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OriGene clones in human,mouse,rat for BACE1
- SC221357
- MC205212
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- SC115547
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OriGene ORF clones in human,mouse,rat for BACE1
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- MR227052L3
- MR227052L4
- RC209115
- RC209115L1
- RC209115L2
- RC209115L3
- RC209115L4
- RC219054
- RC219054L1
- RC219054L2
- RC219054L3
- RC219054L4
- RC220224
- RC220224L3
- RC220224L4
- RC220265
- RC220265L3
- RC220265L4
- RC232613
- RC232660
- RG209115
- RG219054
- RG220224
- RG220265
- RG232613
- RG232660
- RR201423
- RR201423L3
- RR201423L4
- MR208042L1V
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- MR208042L3V
- MR208042L4V
- MR227052L3V
- MR227052L4V
- RC209115L1V
- RC209115L2V
- RC209115L3V
- RC209115L4V
- RC219054L1V
- RC219054L2V
- RC219054L3V
- RC219054L4V
- RC220224L3V
- RC220224L4V
- RC220265L3V
- RC220265L4V
- RR201423L3V
- RR201423L4V
Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling

Sino Biological Human cDNA Clone for BACE1

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Cell Line Products

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VectorBuilder Stable cell line generation for BACE1

Horizon Cell Lines for BACE1
- BACE1 knockout cell line
- BACE1 knockout cell line

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

Cell membrane. Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network. Endoplasmic reticulum. Endosome. Cell surface. Cytoplasmic vesicle membrane. Single-pass type I membrane protein. Membrane raft. Lysosome. Late endosome. Early endosome. Recycling endosome. Cell projection, axon. Cell projection, dendrite. 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 (PubMed:17425515, PubMed:11466313). Colocalization with APP in early endosomes is due to addition of bisecting N-acetylglucosamine wich blocks targeting to late endosomes and lysosomes (By similarity). Retrogradly transported from endosomal compartments to the trans-Golgi network in a phosphorylation- and GGA1- dependent manner (PubMed:15886016). {ECO:0000250 UniProtKB:P56818, ECO:0000269 PubMed:11466313, ECO:0000269 PubMed:15886016, ECO:0000269 PubMed:17425515}.

P56817-BACE1_HUMAN

Subcellular locations from

COMPARTMENTS

Compartment	Confidence
plasma membrane	5
endoplasmic reticulum	5
endosome	5
lysosome	5
golgi apparatus	5
extracellular	3
cytoskeleton	3
mitochondrion	3
nucleus	3
cytosol	3
peroxisome	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:0005764	lysosome	IEA,IDA	16033761
GO:0005768	endosome	IBA,IDA	10531052
GO:0005769	early endosome	IEA,IDA	15886016
GO:0005770	late endosome	IEA,IDA	16033761
GO:0005771	multivesicular body	IDA	24612608

Pathways & Interactions for BACE1 Gene

SuperPathways for BACE1 Gene

	SuperPathway	Contained pathways
1	Neuroscience	Neuroscience -
2	Parkinson disease	Alzheimer disease .45
3	A-beta Plaque Formation and APP Metabolism	A-beta Plaque Formation and APP Metabolism -
4	Alzheimers Disease Pathway	Alzheimers Disease Pathway -
5	Presenilin-Mediated Signaling	Presenilin-Mediated Signaling -

Pathways by source for BACE1 Gene

2 BioSystems pathways for BACE1 Gene

2 Reactome pathways for BACE1 Gene

1 KEGG pathway for BACE1 Gene

Alzheimer disease

1 R&D Systems pathway for BACE1 Gene

A-beta Plaque Formation and APP Metabolism

2 Qiagen pathways for BACE1 Gene

Alzheimers Disease Pathway
Presenilin-Mediated Signaling

1 Cell Signaling Technology pathway for BACE1 Gene

Neuroscience

1 GeneTex pathway for BACE1 Gene

Notch Pathway

Interacting Proteins for BACE1 Gene

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

Selected Interacting proteins: P56817-BACE1_HUMAN ENSP00000318585 for BACE1 Gene via UniProtKB STRING IID

Symbol	External ID(s)	Details
APP	P05067 ⁴ ¹²⁶ ENSP00000284981 ²¹	EBI-2433139, EBI-77613 STRING: ENSP00000284981 IID: # exp=3 # pred=1
FLOT2	Q14254 ⁴ ¹²⁶ ENSP00000378368 ²¹	EBI-2433139, EBI-348613 STRING: ENSP00000378368 IID: # exp=1
GGA1	Q9UJY5 ⁴ ¹²⁶ ENSP00000341344 ²¹	EBI-2433139, EBI-447141 STRING: ENSP00000341344 IID: # exp=5 # pred=1
GGA2	Q9UJY4 ⁴ ¹²⁶ ENSP00000311962 ²¹	EBI-2433139, EBI-447646 STRING: ENSP00000311962 IID: # exp=3
GGA3	Q9NZ52 ⁴ ¹²⁶ ENSP00000438085 ²¹	EBI-2433139, EBI-447404 STRING: ENSP00000438085 IID: # exp=2 # pred=1

GPS-Prot Interaction Network for BACE1

SIGNOR curated interactions for BACE1 Gene

Activates:

Is activated by:

USP8

Other effect:

CSNK1D

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	IBA,TAS	12354787
GO:0009314	response to radiation	IEA	--
GO:0010288	response to lead ion	IEA	--
GO:0030163	protein catabolic process	IBA	--

Drugs & Compounds for BACE1 Gene

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

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

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

Name	Synonyms	Role	CAS Number	PubChem IDs	PubMed IDs

(12) ApexBio Compounds for BACE1 Gene

Compound	Action	Cas Number
Amyloid Beta-Peptide (12-28) (human)		107015-83-8
Amyloid Beta-Peptide (1-40) (human)	Amyloid precursor protein	131438-79-4
Amyloid Beta-peptide (25-35) (human)	Functional domain of Aβ	131602-53-4
Amyloid β-Peptide (10-20) (human)	Initiates neurodegeneration in Alzheimer disease	152286-31-2
Amyloid β-Protein (1-15)	Principal component of amyloid	183745-81-5
AZD3839	BACE1 inhibitor,potent and selective	1227163-56-5
Beta-Amyloid (1-11)	Amyloidogenic peptide	190436-05-6
EHT 1864	Rac family small GTPases inhibitor	754240-09-0
EUK 134	Salen-manganese complexes;SOD mimetic	81065-76-1
LY2811376	Non-peptidic BACE1 inhibitor	1194044-20-6
LY2886721	BACE inhibitor	1262036-50-9
Pepstatin A	Aspartic proteinases inhibitor	26305-03-3

Drug Products

BioLegend

Browse Tocris compounds for BACE1

ApexBio compounds for BACE1

Transcripts for BACE1 Gene

mRNA/cDNA for BACE1 Gene

6 REFSEQ mRNAs :

25 NCBI additional mRNA sequence :

12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

ENST00000313005 6326 nts (view in UCSC)
ENST00000392937 5155 nts (view in UCSC)
ENST00000528053 4083 nts (view in UCSC)
ENST00000510630 1236 nts (view in UCSC)
ENST00000428381 1333 nts (view in UCSC)

CRISPR Products

Applied Biological Materials (abm): CRISPR Clones for BACE1 - Select products 50% OFF >
* BACE1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
* Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All

OriGene CRISPR knockouts for BACE1
- GA108440
- GA204766
- KN409115
- KN501950

Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BACE1

Santa Cruz Biotechnology (SCBT) CRISPR for BACE1

miRNA Products

Search GeneCopoeia for miRNA 3'UTR Target clone products for BACE1

Browse OriGene miRNA Products For BACE1

Inhibitory RNA Products

Origene shrna, sirna, and RNAi products in human, mouse, rat for BACE1
Browse OriGene Inhibitory RNA Products For BACE1

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

Search Santa Cruz Biotechnology (SCBT) for BACE1 siRNA/shRNA

Clone Products

Applied Biological Materials (abm): Clones for BACE1 - Select products 50% OFF >
* BACE1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
* Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All

OriGene clones in human,mouse,rat for BACE1
- SC221357
- MC205212
- RN201423
- SC115547
- SC120577
- SC313437
- SC313560
- SC329895
- SC329896
OriGene ORF clones in human,mouse,rat for BACE1
- MG208042
- MG227052
- MR208042
- MR208042L1
- MR208042L2
- MR208042L3
- MR208042L4
- MR227052
- MR227052L3
- MR227052L4
- RC209115
- RC209115L1
- RC209115L2
- RC209115L3
- RC209115L4
- RC219054
- RC219054L1
- RC219054L2
- RC219054L3
- RC219054L4
- RC220224
- RC220224L3
- RC220224L4
- RC220265
- RC220265L3
- RC220265L4
- RC232613
- RC232660
- RG209115
- RG219054
- RG220224
- RG220265
- RG232613
- RG232660
- RR201423
- RR201423L3
- RR201423L4
- MR208042L1V
- MR208042L2V
- MR208042L3V
- MR208042L4V
- MR227052L3V
- MR227052L4V
- RC209115L1V
- RC209115L2V
- RC209115L3V
- RC209115L4V
- RC219054L1V
- RC219054L2V
- RC219054L3V
- RC219054L4V
- RC220224L3V
- RC220224L4V
- RC220265L3V
- RC220265L4V
- RR201423L3V
- RR201423L4V
Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling

Sino Biological Human cDNA Clone for BACE1

Search Addgene for plasmids for BACE1

Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BACE1

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

Expression for BACE1 Gene

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

mRNA expression in normal human tissues for BACE1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Hair (Integumentary System)
- Outer Root Sheath Cells Outer Root Sheath
Epithelial Cells
- Outer Root Sheath Cells Outer Root Sheath
Spinal Cord (Nervous System)
Pancreas (Endocrine System)

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

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for BACE1 Gene

Integrated proteomics: cell line protein expression from ProteomicsDB, MOPED and MaxQB for BACE1 Gene

Protein tissue co-expression partners for BACE1 Gene

FGF13
SAMD12

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.7)
Lung(4.7)
Eye(3.5)
Skin(3.3)
Kidney(3.2)
Liver(3)
Heart(3)
Blood(3)
Muscle(2.9)
Intestine(2.9)
Spleen(2.9)
Adrenal gland(2.8)
Stomach(2.5)
Lymph node(2.4)
Thyroid gland(2.4)
Bone(2.3)
Gall bladder(2.1)
Bone marrow(2.1)

Primer Products

OriGene qPCR primer pairs for BACE1
- HP210105
- MP201325
OriGene qPCR primer pairs and template standards for BACE1

Gene Expression Assay Products

Applied Biosystems by Thermo Fisher Scientific TaqMan® Assays for BACE1

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 ³⁰ ³¹	99.87 (n)	OneToOne	451573 XM_001158428.1 XP_001158428.1 11:115190571-115221863
Oppossum (Monodelphis domestica)	Mammalia	BACE1 ³¹	94 (a)	OneToOne	4:233340073-233371562
Dog (Canis familiaris)	Mammalia	BACE1 ³⁰ ³¹	93.66 (n)	OneToOne	489390 XM_546508.4 XP_546508.3 5:16308466-16315679
Cow (Bos Taurus)	Mammalia	BACE1 ³⁰ ³¹	92.95 (n)	OneToOne	614333 NM_001046531.1 NP_001039996.1 15:28400714-28422342
Rat (Rattus norvegicus)	Mammalia	Bace1 ³⁰	91.35 (n)		29392 NM_019204.1 NP_062077.1
Mouse (Mus musculus)	Mammalia	Bace1 ³⁰ ¹⁷ ³¹	91.08 (n)	OneToOne	23821 NM_011792.5 NP_035922.4 45838545 9:45838580-45864399
Platypus (Ornithorhynchus anatinus)	Mammalia	BACE1 ³¹	90 (a)	OneToOne	Contig6780:20738-36458
Chicken (Gallus gallus)	Aves	BACE1 ³⁰ ³¹	82.36 (n)	OneToOne	419768 XM_417908.4 XP_417908.3 24:5260652-5267513
Lizard (Anolis carolinensis)	Reptilia	BACE1 ³¹	87 (a)	OneToOne	AAWZ02038905:5294-8906
Tropical Clawed Frog (Silurana tropicalis)	Amphibia	bace1 ³⁰	72.79 (n)		779940 NM_001079017.1 NP_001072485.1
Zebrafish (Danio rerio)	Actinopterygii	bace1 ³⁰	71.95 (n)		403005 NM_205704.1 NP_991267.1
Zebrafish (Danio rerio)	Actinopterygii	CABZ01088933.1 ³¹	65 (a)	OneToOne	15:14248-19010
Fruit Fly (Drosophila melanogaster)	Insecta	CG17134 ³¹	25 (a)	ManyToMany	2L:10820710-10821968
		Bace ³¹	24 (a)	ManyToMany	2L:8495108-8496307
		CG6508 ³¹	22 (a)	ManyToMany	2L:10819123-10820394
		CG5863 ³¹	22 (a)	ManyToMany	3R:13236897-13238084
		CG5860 ³¹	22 (a)	ManyToMany	3R:13235341-13236562
		CG31926 ³¹	22 (a)	ManyToMany	2L:1495747-1496979
		pcl ³¹	20 (a)	ManyToMany	X:330172-331475
		CG31661 ³¹	20 (a)	ManyToMany	2L:1497254-1498435
		CG31928 ³¹	20 (a)	ManyToMany	2L:1492295-1493645
		CG17283 ³¹	20 (a)	ManyToMany	3R:13233598-13235182
		CG33128 ³¹	19 (a)	ManyToMany	2L:1494090-1495456
Worm (Caenorhabditis elegans)	Secernentea	asp-15 ³¹	21 (a)	ManyToMany	V:19043215-19044853
		asp-18 ³¹	20 (a)	ManyToMany	V:18730174-18731679
		asp-16 ³¹	20 (a)	ManyToMany	V:19039058-19042605
		asp-5 ³¹	20 (a)	ManyToMany	V:8272375-8274047
		asp-1 ³¹	19 (a)	ManyToMany	V:19049123-19050825
		asp-9 ³¹	19 (a)	ManyToMany	IV:6185888-6189205
		asp-17 ³¹	18 (a)	ManyToMany	V:19035715-19037320
		asp-6 ³¹	18 (a)	ManyToMany	V:8267546-8268937
		asp-13 ³¹	18 (a)	ManyToMany	V:8641491-8643225
		asp-12 ³¹	17 (a)	ManyToMany	V:8269254-8272058
		asp-7 ³¹	17 (a)	ManyToMany	V:3028294-3029583
		asp-19 ³¹	17 (a)	ManyToMany	V:18728703-18729374
		asp-10 ³¹	15 (a)	ManyToMany	V:12742041-12744170
		asp-14 ³¹	14 (a)	ManyToMany	X:6444185-6446738
		asp-8 ³¹	14 (a)	ManyToMany	V:3024219-3027933
		asp-2 ³¹	12 (a)	ManyToMany	V:9199680-9205128
Baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	PEP4 ³¹	22 (a)	OneToMany	XVI:259714-260931
Sea Squirt (Ciona savignyi)	Ascidiacea	-- ³¹	37 (a)	OneToMany	reftig_394:127106-133870

Species where no ortholog for BACE1 was found in the sources mined by GeneCards:

A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
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

BACE2 ⁵
PGA5 ⁵
PGA3 ⁵
PGA4 ⁵
ENSG00000250644 ⁵
CTSE ⁵
CTSD ⁵
PGC ⁵
NAPSA ⁵
REN ⁵

(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

Variants for BACE1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BACE1 Gene

SNP ID	Clinical significance and condition	Chr 11 pos	Variation	AA Info	Type
rs28989503	-		p.Val265Ala
rs539765	-		p.Arg481Cys

Additional dbSNP identifiers (rs#s) for BACE1 Gene

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

Applied Biosystems by Thermo Fisher Scientific TaqMan® Assays for BACE1

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

Disorders for BACE1 Gene

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

Disorder	Aliases	PubMed IDs
alzheimer disease	ad	29316899
tracheitis	acute tracheitis
amyloidosis	amyloid disease	19011241
creutzfeldt-jakob disease	cjd
myositis	myopathy, familial idiopathic inflammatory; iim	11747923

- 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
: Open Targets Platform

Search disorders for BACE1 gene in PubMed and other databases

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

Publications for BACE1 Gene

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 ²³
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 ²³
APP and BACE1 miRNA genetic variability has no major role in risk for Alzheimer disease. (PMID: 19462468) Bettens K … Van Broeckhoven C (Human mutation 2009) ³ ²³ ⁴¹
Cluster analysis of risk factor genetic polymorphisms in Alzheimer's disease. (PMID: 18307033) Randall CN … Poduslo SE (Neurochemical research 2009) ³ ²³ ⁴¹
Meta-analysis of genetic variability in the beta-amyloid production, aggregation and degradation metabolic pathways and the risk of Alzheimer's disease. (PMID: 17854420) Llorca J … Combarros O (Acta neurologica Scandinavica 2008) ³ ²³ ⁴¹