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    BACE1 beta-site APP-cleaving enzyme 1 [ Homo sapiens (human) ]

    Gene ID: 23621, updated on 7-Feb-2016
    Official Symbol
    BACE1provided by HGNC
    Official Full Name
    beta-site APP-cleaving enzyme 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
    See BACE1 in Epigenomics, MapViewer
    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 164kDa Neighboring gene proline rich 13 pseudogene 3 Neighboring gene Down syndrome 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
    PubMed 
    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 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
      UniProtKB/TrEMBL
      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/TrEMBL
      B7Z3K2
      UniProtKB/Swiss-Prot
      P56817
      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/TrEMBL
      A0A024R3D7
      UniProtKB/Swiss-Prot
      P56817
      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/TrEMBL
      A0A024R3D5
      UniProtKB/Swiss-Prot
      P56817
      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/TrEMBL
      A0A024R3E8
      UniProtKB/Swiss-Prot
      P56817
      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/TrEMBL
      A0A024R3F9
      UniProtKB/Swiss-Prot
      P56817
      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

    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)