Human Gene BACE1 (ENST00000313005.10) Description and Page Index
Description: Homo sapiens beta-secretase 1 (BACE1), transcript variant a, mRNA. (from RefSeq NM_012104) RefSeq Summary (NM_012104): 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]. Gencode Transcript: ENST00000313005.10 Gencode Gene: ENSG00000186318.16 Transcript (Including UTRs) Position: hg38 chr11:117,285,207-117,316,256 Size: 31,050 Total Exon Count: 9 Strand: - Coding Region Position: hg38 chr11:117,289,566-117,315,795 Size: 26,230 Coding Exon Count: 9
ID:BACE1_HUMAN DESCRIPTION: RecName: Full=Beta-secretase 1; EC=220.127.116.11; AltName: Full=Aspartyl protease 2; Short=ASP2; Short=Asp 2; AltName: Full=Beta-site amyloid precursor protein cleaving enzyme 1; Short=Beta-site APP cleaving enzyme 1; AltName: Full=Memapsin-2; AltName: Full=Membrane-associated aspartic protease 2; Flags: Precursor; 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 amyloid precursor protein. ENZYME REGULATION: Inhibited by RTN3 and RTN4. SUBUNIT: Monomer. Interacts with GGA1, GGA2 and GGA3. Interacts with RTN3 and RTN4. Interacts with SNX6. Interacts with PCSK9. SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network. Endoplasmic reticulum. Endosome. Cell surface. Cytoplasmic vesicle membrane. 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. 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. DOMAIN: The transmembrane domain is necessary for its activity. It determines its late Golgi localization and access to its substrate, APP. PTM: Glycosylated. SIMILARITY: Belongs to the peptidase A1 family. SEQUENCE CAUTION: Sequence=BAA86463.2; Type=Frameshift; Positions=34; WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/bace1/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P56817
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.