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BACE1 beta-secretase 1 [ Homo sapiens (human) ]

Gene ID: 23621, updated on 17-May-2016
Official Symbol
BACE1provided by HGNC
Official Full Name
beta-secretase 1provided by HGNC
Primary source
HGNC:HGNC:933
See related
Ensembl:ENSG00000186318 HPRD:07255; MIM:604252; Vega:OTTHUMG00000160636
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ASP2; BACE; HSPC104
Summary
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]
Orthologs
Location:
11q23.2-q23.3
Exon count:
10
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (117285686..117316256, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (117156402..117186972, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100652768 Neighboring gene transgelin Neighboring gene proprotein convertase subtilisin/kexin type 7 Neighboring gene ring finger protein 214 Neighboring gene BACE1 antisense RNA Neighboring gene centrosomal protein 164 Neighboring gene proline rich 13 pseudogene 3 Neighboring gene DS cell adhesion molecule like 1 Neighboring gene uncharacterized LOC105369516

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genetic determinants of cardiovascular events among women with migraine: a genome-wide association study.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat recruits APP into lipid rafts to facilitate the processing of APP by beta-secretase, which leads to increased levels of ABeta42 in HIV-1 infected U-87 MG cells PubMed

Go to the HIV-1, Human Interaction Database

  • Alzheimer's disease, organism-specific biosystem (from KEGG)
    Alzheimer's disease, organism-specific biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
  • Alzheimer's disease, conserved biosystem (from KEGG)
    Alzheimer's disease, conserved biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
  • Alzheimers Disease, organism-specific biosystem (from WikiPathways)
    Alzheimers Disease, organism-specific biosystemThis pathway displays current genes, proteolytic events and other processes associated with the progression of Alzheimer's disease. This pathway was adapted from KEGG on 10/7/2011. Note: mitochondria...
  • Amyloid fiber formation, organism-specific biosystem (from REACTOME)
    Amyloid fiber formation, organism-specific biosystemAmyloid is a term used to describe deposits of fibrillar proteins, typically extracellular. The abnormal accumulation of amyloid, amyloidosis, is a term associated with tissue damage caused by amyloi...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ90568, KIAA1149

Gene Ontology Provided by GOA

Function Evidence Code Pubs
aspartic-type endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
beta-amyloid binding IPI
Inferred from Physical Interaction
more info
PubMed 
beta-aspartyl-peptidase activity TAS
Traceable Author Statement
more info
 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
peptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
beta-amyloid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
membrane protein ectodomain proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
membrane protein ectodomain proteolysis TAS
Traceable Author Statement
more info
PubMed 
protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Golgi-associated vesicle lumen TAS
Traceable Author Statement
more info
 
axon IEA
Inferred from Electronic Annotation
more info
 
cell surface IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
endosome IDA
Inferred from Direct Assay
more info
PubMed 
endosome membrane TAS
Traceable Author Statement
more info
 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
late endosome IDA
Inferred from Direct Assay
more info
PubMed 
multivesicular body IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
trans-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
beta-secretase 1
Names
APP beta-secretase
asp 2
aspartyl protease 2
beta-secretase 1 precursor variant 1
beta-site APP cleaving enzyme 1
beta-site APP-cleaving enzyme 1
beta-site amyloid beta A4 precursor protein-cleaving enzyme
memapsin-2
membrane-associated aspartic protease 2
transmembrane aspartic proteinase Asp2
NP_001193977.1
NP_001193978.1
NP_036236.1
NP_620427.1
NP_620428.1
NP_620429.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029372.1 RefSeqGene

    Range
    5001..35571
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001207048.1NP_001193977.1  beta-secretase 1 isoform E

    See identical proteins and their annotated locations for NP_001193977.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (e) lacks two exons from the 5' end and has an alternate 5' exon, compared to variant a. The resulting isoform (E) has a shorter and distinct N-terminus, and lacks a predicted signal peptide compared to isoform A.
    Source sequence(s)
    AB177847, AK296535, BM996673, DC343475
    Consensus CDS
    CCDS55787.1
    UniProtKB/TrEMBL
    B7Z3Z4, Q5W9H2
    Related
    ENSP00000475405, OTTHUMP00000273436, ENST00000392937, OTTHUMT00000361510
    Conserved Domains (1) summary
    cd05473
    Location:18337
    beta_secretase_like; Beta-secretase, aspartic-acid protease important in the pathogenesis of Alzheimer's disease
  2. NM_001207049.1NP_001193978.1  beta-secretase 1 isoform F

    See identical proteins and their annotated locations for NP_001193978.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (f) lacks two exons from the 5' end and has an alternate 5' exon and an alternate splice site in the coding region, compared to variant a. The resulting isoform (F) is shorter and lacks a predicted signal peptide compared to isoform A.
    Source sequence(s)
    AB032975, AK296015, BM996673, DC343475
    Consensus CDS
    CCDS55786.1
    UniProtKB/Swiss-Prot
    P56817
    UniProtKB/TrEMBL
    B7Z3K2
    Related
    ENSP00000422461, OTTHUMP00000218636, ENST00000510630, OTTHUMT00000361511
    Conserved Domains (1) summary
    cl11403
    Location:18312
    pepsin_retropepsin_like; Cellular and retroviral pepsin-like aspartate proteases
  3. NM_012104.4NP_036236.1  beta-secretase 1 isoform A preproprotein

    See identical proteins and their annotated locations for NP_036236.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (a) is the longest transcript and it encodes the longest isoform (A).
    Source sequence(s)
    AB032975, BC065492, BM996673
    Consensus CDS
    CCDS8383.1
    UniProtKB/Swiss-Prot
    P56817
    UniProtKB/TrEMBL
    A0A024R3D7
    Related
    ENSP00000318585, OTTHUMP00000218630, ENST00000313005, OTTHUMT00000361505
    Conserved Domains (2) summary
    cd05473
    Location:72437
    beta_secretase_like; Beta-secretase, aspartic-acid protease important in the pathogenesis of Alzheimer's disease
    pfam00026
    Location:75416
    Asp; Eukaryotic aspartyl protease
  4. NM_138971.3NP_620427.1  beta-secretase 1 isoform C precursor

    See identical proteins and their annotated locations for NP_620427.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (c) has an alternate splice site in the coding region, compared to variant a. The resulting isoform (C) lacks an internal segment, compared to isoform A. This isoform (C) may not undergo proteolytic processing similar to isoform A.
    Source sequence(s)
    AB032975, BC065492, BM996673
    Consensus CDS
    CCDS44740.1
    UniProtKB/Swiss-Prot
    P56817
    UniProtKB/TrEMBL
    A0A024R3D5
    Related
    ENSP00000403685, OTTHUMP00000218633, ENST00000445823, OTTHUMT00000361508
    Conserved Domains (2) summary
    cd05473
    Location:72393
    beta_secretase_like; Beta-secretase, aspartic-acid protease important in the pathogenesis of Alzheimer's disease
    pfam00026
    Location:75372
    Asp; Eukaryotic aspartyl protease
  5. NM_138972.3NP_620428.1  beta-secretase 1 isoform B precursor

    See identical proteins and their annotated locations for NP_620428.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (b) has an alternate splice site in the coding region, compared to variant a. The resulting isoform (B) lacks an internal segment, compared to isoform A. This isoform (B) may not undergo proteolytic processing similar to isoform A.
    Source sequence(s)
    AB032975, BC065492, BM996673
    Consensus CDS
    CCDS44739.1
    UniProtKB/Swiss-Prot
    P56817
    UniProtKB/TrEMBL
    A0A024R3E8
    Related
    ENSP00000424536, OTTHUMP00000218632, ENST00000513780, OTTHUMT00000361507
    Conserved Domains (2) summary
    cd05473
    Location:72412
    beta_secretase_like; Beta-secretase, aspartic-acid protease important in the pathogenesis of Alzheimer's disease
    pfam00026
    Location:75391
    Asp; Eukaryotic aspartyl protease
  6. NM_138973.3NP_620429.1  beta-secretase 1 isoform D precursor

    See identical proteins and their annotated locations for NP_620429.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (d) has an alternate splice junction in the coding region, compared to variant a. The resulting isoform (D) lacks an internal segment, compared to isoform A. This isoform (D) may undergo proteolytic processing similar to isoform A.
    Source sequence(s)
    AB032975, BC065492, BM996673
    Consensus CDS
    CCDS44741.1
    UniProtKB/Swiss-Prot
    P56817
    UniProtKB/TrEMBL
    A0A024R3F9
    Related
    ENSP00000402228, OTTHUMP00000218631, ENST00000428381, OTTHUMT00000361506
    Conserved Domains (2) summary
    pfam00026
    Location:75347
    Asp; Eukaryotic aspartyl protease
    cl11403
    Location:72368
    pepsin_retropepsin_like; Cellular and retroviral pepsin-like aspartate proteases

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

    Range
    117285686..117316256 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    117041502..117072072 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)