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BACE1 Gene

protein-coding GIFtS: 65

GC11M116661

beta-site APP-cleaving enzyme 1
(Previous name: beta-site APP-cleaving enzyme )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: BACE)

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

Aliases
ASP2 ^², ³
BACE ^², ³, ⁵
EC 3.4.23.46 ^³
FLJ90568 ^²
HSPC104 ^²
KIAA1149 ^², ³
Memapsin-2 ^³
beta-secretase ^²
memapsin-2 ^²

Descriptions
APP beta-secretase ^²
Asp 2 ^³
Aspartyl protease 2 ^², ³
Beta-site APP cleaving enzyme 1 ^³
Beta-site amyloid precursor protein cleaving enzyme 1 ^³
Membrane-associated aspartic protease 2 ^², ³
beta-site APP-cleaving enzyme ^¹
beta-site APP-cleaving enzyme 1 ^²
beta-site amyloid beta A4 precursor protein-cleaving enzyme ^²
beta-site amyloid precursor protein cleaving enzyme ^²
transmembrane aspartic proteinase Asp2 ^²

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

Search outside databases for aliases for BACE1 gene

Previous GC identifer: GC11M116695

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

EntrezGene summary for BACE1:

Cerebral deposition of amyloid beta peptide is an early and critical feature of Alzheimer's

disease. Amyloid beta peptide is generated by proteolytic cleavage of amyloid precursor protein

(APP) by two proteases, one of which is the protein encoded by this gene. The encoded protein, a

member of the peptidase A1 protein family, is a type I integral membrane glycoprotein and aspartic

protease that is found mainly in the Golgi. Four transcript variants encoding different isoforms

have been described for this gene. [provided by RefSeq]

UniProtKB/Swiss-Prot: BACE1_HUMAN, P56817

Function: Responsible for the proteolytic processing of the amyloid precursor protein (APP).

Cleaves at the N-terminus of the A-beta peptide sequence, between residues 671 and 672 of APP,

leads to the generation and extracellular release of beta-cleaved soluble APP, and a corresponding

cell-associated C-terminal fragment which is later released by gamma-secretase

Gene Wiki entry for BACE1 (Beta_secretase)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the BACE1 gene

Entrez Gene cytogenetic band: 11q23.2-q23.3 Ensembl cytogenetic band: 11q23.3 HGNC cytogenetic band: 11q23-q24

BACE1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M116661: (about GC identifiers)

Start:	116,661,624 bp from pter
End:	116,692,182 bp from pter
Size:	30,559 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000011.8 NT_033899.7

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: BACE1_HUMAN, P56817 (See protein sequence)

Recommended Name: Beta-secretase 1 precursor

Size: 501 amino acids; 55764 Da

Subunit: Monomer. Interacts with GGA1, GGA2 and GGA3. Interacts with RTN3 and RTN4

Subcellular location: Membrane; Single-pass type I membrane protein

Sequence caution: Sequence=BAA86463.2; Type=Frameshift; Positions=34;

PDB structures from and Proteopedia :

1FKN (3D)

1M4H (3D)

1PY1 (3D)

1SGZ (3D)

1TQF (3D)

1UJJ (3D)

1UJK (3D)

1W50 (3D)

1W51 (3D)

1XN2 (3D)

1XN3 (3D)

1XS7 (3D)

1YM2 (3D)

1YM4 (3D)

2B8L (3D)

2B8V (3D)

2F3E (3D)

2F3F (3D)

2FDP (3D)

2G94 (3D)

2HIZ (3D)

2HM1 (3D)

2IQG (3D)

2IRZ (3D)

2IS0 (3D)

2NTR (3D)

2OAH (3D)

2OF0 (3D)

2OHK (3D)

2OHL (3D)

2OHM (3D)

2OHN (3D)

2OHP (3D)

2OHQ (3D)

2OHR (3D)

2OHS (3D)

2OHT (3D)

2OHU (3D)

2P4J (3D)

2P83 (3D)

2P8H (3D)

2PH6 (3D)

2PH8 (3D)

2Q11 (3D)

2Q15 (3D)

2QK5 (3D)

2QMD (3D)

2QMF (3D)

2QMG (3D)

2QP8 (3D)

2QU2 (3D)

2QU3 (3D)

2QZK (3D)

2QZL (3D)

2VA5 (3D)

2VA6 (3D)

2VA7 (3D)

2VIE (3D)

2VIJ (3D)

2VIY (3D)

2VIZ (3D)

2VJ6 (3D)

2VJ7 (3D)

2VJ9 (3D)

2VKM (3D)

2VNM (3D)

2VNN (3D)

2ZDZ (3D)

2ZE1 (3D)

2ZHR (3D)

2ZHS (3D)

2ZHT (3D)

2ZHU (3D)

2ZHV (3D)

2ZJH (3D)

2ZJI (3D)

2ZJJ (3D)

2ZJK (3D)

2ZJL (3D)

2ZJM (3D)

2ZJN (3D)

3BRA (3D)

3BUF (3D)

3BUG (3D)

3BUH (3D)

3CIB (3D)

3CIC (3D)

3CID (3D)

3CKP (3D)

3CKR (3D)

3DM6 (3D)

3DUY (3D)

3DV1 (3D)

3DV5 (3D)

3EXO (3D)

3FKT (3D)

Secondary accessions: B0YIU9 Q9BYB9 Q9BYC0 Q9BYC1 Q9UJT5 Q9ULS1

Alternative splicing: 4 isoforms: P56817-1 P56817-2 P56817-3 P56817-4

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (4 alternative transcripts):

NP_036236.1 NP_620427.1 NP_620428.1 NP_620429.1

ENSEMBL proteins:

ENSP00000376667 ENSP00000318585 ENSP00000292095

Human Recombinant Proteins

	Invitrogen human recombinant proteins for BACE1
	Millipore Purified and/or Recombinant BACE1 Protein
	Sigma-Aldrich Proteins for BACE1
	R&D Systems Recombinant & Natural Proteins for BACE1 (BACE-1)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Beta secretase, BACE1)
	Human Recombinant Proteins from Abnova (BACE1)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

4 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005768	endosome	IDA	10531052
GO:0005794	Golgi apparatus	IDA	10531052
GO:0005887	integral to plasma membrane	TAS	10887202
GO:0016020	membrane	IEA	--

About this table

Antibodies for BACE1:

	Invitrogen Antibodies for BACE1
	Millipore Mono- and Polyclonal Antibodies for the study of BACE1
	Sigma-Aldrich Antibody Arrays and Antibodies for BACE1
	R&D Systems Antibodies for BACE1 (BACE-1)
	Antibodies from Abcam (Beta secretase, BACE1), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (BACE1)
	Novus Biologicals Antibodies for BACE1

Assays for BACE1:

	Invitrogen Assays for BACE1
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

Graphical View of Domain Structure for InterPro Entry P56817

ProtoNet protein and cluster: P56817

2 Blocks protein families:

IPB001461 Pepsin (A1) aspartic protease family signature

IPB009119 Beta-site APP cleaving enzyme (BACE) family signature

UniProtKB/Swiss-Prot: BACE1_HUMAN, P56817

Similarity: Belongs to the peptidase A1 family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (BACE1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (BACE1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_012104

Applied Biosystems Silencer® siRNAs for BACE1

Sigma-Aldrich siRNA and siRNA Panels for BACE1

Sigma-Aldrich shRNA for BACE1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for BACE1
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_012104
Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_012104
untagged cDNA clones in CMV expression vector (see all 4): NM_012104

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_012104

UniProtKB/Swiss-Prot: BACE1_HUMAN, P56817

Function: Responsible for the proteolytic processing of the amyloid precursor protein (APP).

Cleaves at the N-terminus of the A-beta peptide sequence, between residues 671 and 672 of APP,

leads to the generation and extracellular release of beta-cleaved soluble APP, and a corresponding

cell-associated C-terminal fragment which is later released by gamma-secretase

Catalytic activity: Broad endopeptidase specificity. Cleaves Glu-Val-Asn-Leu- -Asp-Ala-Glu-Phe in

the Swedish variant of Alzheimer's amyloid precursor protein

Enzyme regulation: Inhibited by RTN3 and RTN4

Enzyme Number (IUBMB): EC 3.4.23.46

9 MGI mutant phenotypes (inferred from 12 alleles) (MGI details for Bace1):

behavior/neurological	cellular	growth/size	lethality-postnatal	muscle
nervous system	normal	other	touch/vibrissae

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004190	aspartic-type endopeptidase activity	IDA	10531052
GO:0008233	peptidase activity	IEA	--
GO:0008798	beta-aspartyl-peptidase activity	TAS	10591214

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

3 Sigma-Aldrich "Your Favorite Gene" Pathways for BACE1 (Your Favorite Gene powered by Ingenuity)

Lysine Degradation
Amyloid Processing
Mitochondrial Dysfunction

GeneDecks BACE1 for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for BACE1

5/40 Interacting proteins for BACE1 (ENSP00000318585³) via UniProtKB, MINT, and/or STRING (see all 40 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PSEN1	ENSP00000326366³	STRING (score=.996)
APP	ENSP00000284981³	STRING (score=.993)
NCSTN	ENSP00000294785³	STRING (score=.992)
RTN3	ENSP00000367050³	STRING (score=.984)
GGA1	ENSP00000371175³	STRING (score=.964)

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006508	proteolysis	IDA	10531052
GO:0006509	membrane protein ectodomain proteolysis	TAS	12354787
GO:0050435	beta-amyloid metabolic process	IDA	15080893

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

Enzo Life Sciences drugs & compounds for BACE1

Sigma-Aldrich Small Molecules for BACE1:

Inhibitor

Browse Tocris compounds for BACE1
10/34 Novoseek chemical compound relationships for BACE1 gene (see all 34 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
hydroxyethylene	82.90	21	14695829 (3), 16451048 (2), 12206667 (1), 11966460 (1) (see all 8)
isophthalamide	80.90	2	14695829 (1), 16510290 (1)
happ	69.26	6	11141490 (2), 10818140 (1)
statine	67.90	3	11784130 (1), 16574278 (1)
pyrrolidinone	49.79	1	16095294 (1)
mannose 6-phosphate	37.40	2	15615712 (1)
ethanolamine	33.72	4	12956063 (2), 19375914 (1), 15451669 (1)
cholesterol	31.08	38	16803455 (4), 19074428 (4), 18374657 (3), 16115865 (2) (see all 20)
methylamine	29.70	5	17149856 (2), 18854490 (1), 8562317 (1)
heparan sulfate	25.83	15	14530380 (6), 17080204 (5), 17363373 (1), 9152995 (1) (see all 5)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (BACE1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (BACE1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_012104

Sigma-Aldrich siRNA and siRNA Panels for BACE1

Sigma-Aldrich shRNA for BACE1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_012104 NM_138971 NM_138972 NM_138973

REFSEQ mRNAs for BACE1 gene (4 alternative transcripts):

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

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_012104 NM_138971 NM_138972 NM_138973

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_012104
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_012104
                                 untagged cDNA clones in CMV expression vector (see all 4): NM_012104

Additional cDNA sequence:

AB032975.2 AB050436.1 AB050437.1 AB050438.1 AB089958.1 AB177847.1 AF161367.1 AF190725.1

AF200193.1 AF200343.1 AF201468.1 AF204943.1 AF324837.1 AF338816.1 AF338817.1 AF527782.1

AK075049.1 AK296015.1 AK296535.1 AL833810.1 BC036084.1 BC065492.1

12 DOTS entries:

DT.455355 DT.97774156 DT.92440695 DT.95199476 DT.92440687 DT.100811167 DT.100811168 DT.100706776

DT.100735795 DT.100739577 DT.92440693 DT.97799788

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

BM995457 BU502697 BF089765 BU689685 BM721689 CA424683 AA723830 AI810313

AW082260 CQ824591 AI127789 AA705405 AI276907 BI029094 F01374 BQ001260

NM_012104 AI184285 AB050438 AA918558 AA448756 BF057627 NM_138973 AI769238

highest scoring ESTs for BACE1:

AB032975 AB050436 AB050437 AB050438 AB089958 AF190725 AF200193 AF200343 AF201468 AF204943

Unigene Cluster for BACE1:

Beta-site APP-cleaving enzyme 1

Hs.504003 [show with all ESTs]

Unigene Representative Sequence: AF201468

GeneLoc Exon Structure

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

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5a	·	5b	^	6	^	7a	·	7b	·	7c	^	8a	·	8b	^	9a	·	9b	·	9c	^	10a	·	10b	·	10c	·	10d	·	10e	^	11	^	12	^	13a	·	13b	·	13c	^
SP1:					-		-				-		-		-						-						-						-		-						-		-
SP2:					-		-				-		-		-				-		-						-						-		-						-		-
SP3:					-		-				-		-		-				-		-		-				-						-		-						-		-
SP4:					-		-				-		-		-						-		-				-						-		-						-		-
SP5:															-						-						-						-		-						-		-

ExUns:	14a	·	14b	·	14c
SP1:
SP2:
SP3:
SP4:
SP5:

About this scheme

ECgene alternative splicing isoforms for BACE1

3 Ensembl transcripts including schematic representations:

ENST00000392937 ENST00000313005 ENST00000292095

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

BACE1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for BACE1

¹ / ² / ³

10 probe-sets matching BACE1 gene

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

GeneDecks BACE1 for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: GAGGAATTGG

SOURCE GeneReport for Unigene cluster: Hs.504003
UniProtKB/Swiss-Prot: BACE1_HUMAN, P56817
Tissue specificity: Brain

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for BACE1 gene from 5/7 species (see all 7 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	BACE1¹	--	beta-site APP-cleaving enzyme 1	92.49(n) 96.95(a)	489390 XM_546508.2 XP_546508.2
chimpanzee (Pan troglodytes)	BACE1¹	--	beta-site APP-cleaving enzyme 1	99.87(n) 100(a)	451573 XM_001158428.1 XP_001158428.1
cow (Bos taurus)	BACE1¹	--	beta-site APP-cleaving enzyme 1	92.95(n) 98.2(a)	614333 NM_001046531.1 NP_001039996.1
rat (Rattus norvegicus)	Bace1¹	--	beta-site APP cleaving enzyme 1	91.35(n) 96.41(a)	29392 NM_019204.1 NP_062077.1
mouse (Mus musculus)	Bace1^{1, 5}	9⁵	beta-site APP cleaving enzyme 1^{1, 5}	91.02(n)¹ 96.21(a)¹	23821¹ NM_011792.4¹ NP_035922.3¹ AF190726⁵ AF200346⁵ (see all 30)

About this table Species with no ortholog for BACE1

ENSEMBL Gene Tree for BACE1

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for BACE1 gene

NAPSB² CTSD² BACE2² NAPSA²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/196 NCBI SNPs in BACE1 are shown (see all 196 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 94)

AB	SNP ID	Valid	Chr 11 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs535860^1,2	A,C,F,H	116665088(+)	`CTGCCA/TGGGTA`	4	--	ut3¹ ese³		13	MN NA NS EU EA WA	914
	rs481285^1,2	A,C,F,H	116664280(+)	`AGGCAA/GTGAAA`	4	--	ut3¹ ese³		12	NA NS EU EA WA	722
	rs539765^1,2	C,F,H	116665557(+)	`GCAGCG/ACCACT`	4	C/R	mis¹		3	MN WA NA	328
	rs11601511^1,2	C,F,H	116692761(+)	`GGTAAG/CAGCCA`	4	--	ng3¹ tfbs³		6	EU EA NA NS	520
	rs649555^1,2	C,F	116662588(+)	`TGCCTG/ATCACC`	4	--	ut3¹ ese³		6	NS	228
	rs536817^1,2	F,H	116692651(-)	`CTTTCA/GTCCTG`	4	--	ng3¹		7	EA NA EU WA	472
	rs1047857^1,2	C,F	116664068(-)	`CTTTTT/CCCCCT`	4	--	ut3¹ ese³ trp³		6	NS	230
--	rs4938369^1,2	C,F	116693330(+)	`CACGTC/TGGCCT`	4	--	ng3¹		5	NS	180
	rs12288248^1,2	H	116663231(+)	`CTGCAA/GTGATA`	4	--	ut3¹ ese³		4	EU EA WA	418
	rs28989514^1,2	F	116662234(-)	`CAATAA/GGCAGA`	4	--	ut3¹		5	NS	188

About this table

HapMap Linkage Disequilibrium images for BACE1 (up to first 250kb)

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

OMIM: 604252

10/25 Novoseek disease relationships for BACE1 gene (see all 25 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
alzheimers disease	91.89	364	11922623 (4), 17576410 (3), 12941471 (3), 12445809 (3) (see all 99)
senile plaques	89.39	51	14645205 (1), 15466887 (1), 17080204 (1), 17174011 (1) (see all 40)
neurofibrillary tangles	63.81	1	15677864 (1)
amyloid deposition	58.12	7	15452128 (1), 12223024 (1), 17258906 (1), 15642747 (1) (see all 5)
neurodegeneration	54.62	6	16027115 (2), 17576410 (1), 18480253 (1), 15156067 (1) (see all 5)
neuropathology	53.81	2	16901640 (1), 16387391 (1)
amyloidosis	47.95	10	19011241 (1), 17258906 (1), 18353773 (1), 11922623 (1) (see all 6)
brain diseases	45.58	6	16027115 (1), 15670741 (1), 12941471 (1), 17511655 (1) (see all 5)
dementia	42.20	3	16470248 (1), 16901640 (1), 18695061 (1)
down syndrome	32.22	7	15473697 (2), 18163181 (1), 16816111 (1), 17121991 (1) (see all 5)

About this table

Genetic Association Database: BACE1
Human Genome Epidemiology Navigator: BACE1 (22 documents)

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

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

10/439 PubMed articles for BACE1 gene (see all 439 ):

Beta-secretase cleavage of Alzheimer's amyloid precursor protein by the transmembrane aspartic protease BACE. (PubMed id 10531052)^{1, 2, 3, 4} Vassar R.... Citron M. (1999)
Mapping of interaction domains mediating binding between BACE1 and RTN/Nogo proteins. (PubMed id 16979658)^{1, 3, 4} He W.... Yan R. (2006)
Human aspartic protease memapsin 2 cleaves the beta-secretase site of beta-amyloid precursor protein. (PubMed id 10677483)^{1, 3, 4} 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, 3, 4} 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, 3, 4} 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, 3, 4} Fischer F.... Paganetti P. (2002)
Polymorphism in the BACE gene influences the risk for Alzheimer's disease. (PubMed id 12824768)^{1, 3, 6} Kirschling C.M....Heun R. (2003)
Identification of a novel aspartic proteinase (Asp 2) as beta- secretase. (PubMed id 10656250)^{1, 3, 4} Hussain I.... Christie G. (1999)
Purification and cloning of amyloid precursor protein beta-secretase from human brain. (PubMed id 10591214)^{1, 3, 4} Sinha S.... Varghese J. (1999)
Genetic association of BACE1 gene polymorphism C786G with late-onset Alzheimer's disease in Chinese. (PubMed id 15784960)^{1, 3, 6} Kan R....Wang L. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 23621	HGNC: 933	AceView: BACE1	Ensembl:ENSG00000186318	euGenes: HUgn23621
ECgene: BACE1	H-InvDB: BACE1

(According to HUGE)
About This Section

HUGE: KIAA1149

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
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BACE1 Gene

protein-coding GIFtS: 65

Aliases &
Descriptions
for BACE1

Summaries
for BACE1

Genomic Location
for BACE1

Proteins
for BACE1

Protein Domains/
Families
for BACE1

Gene Function
for BACE1

Pathways & Interactions
for BACE1

Drugs & Compounds
for BACE1

Transcripts
for BACE1

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for BACE1

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for BACE1

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

BACE1 (Gene Symbol)
ASP2
BACE
EC 3.4.23.46
FLJ90568
HSPC104
KIAA1149
Memapsin-2
beta-secretase
memapsin-2
APP beta-secretase
Asp 2
Aspartyl protease 2
Beta-site APP cleaving enzyme 1
Beta-site amyloid precursor protein cleaving enzyme 1
Membrane-associated aspartic protease 2
beta-site APP-cleaving enzyme
beta-site APP-cleaving enzyme 1
beta-site amyloid beta A4 precursor protein-cleaving enzyme
beta-site amyloid precursor protein cleaving enzyme
transmembrane aspartic proteinase Asp2

BACE1 Gene

protein-coding GIFtS: 65

Aliases & Descriptionsfor BACE1

Summariesfor BACE1

Genomic Locationfor BACE1

Proteinsfor BACE1

Protein Domains/Familiesfor BACE1

Gene Functionfor BACE1

Pathways & Interactionsfor BACE1

Drugs & Compoundsfor BACE1

Transcriptsfor BACE1

Expression for BACE1

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Publicationsfor BACE1

Search for BACE1

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Other Databases showing BACE1

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for BACE1

Summaries
for BACE1

Genomic Location
for BACE1

Proteins
for BACE1

Protein Domains/
Families
for BACE1

Gene Function
for BACE1

Pathways & Interactions
for BACE1

Drugs & Compounds
for BACE1

Transcripts
for BACE1

Expression
for BACE1

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for BACE1

Paralogs
for BACE1

SNPs/Variants
for BACE1

Disorders & Mutations
for BACE1

Medical News
for BACE1

Publications
for BACE1

Licensable Technologies
for BACE1

Services
for BACE1