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Gene : BACE1 Homo sapiens

Name  ? beta-secretase 1 Cytological Location  11q23.3
Brief Description  beta-secretase 1
Description  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]
  • synonyms:
  • BACE,
  • NM_001207048,
  • OTTHUMG00000160636,
  • BACE,
  • uc001pqz.4,
  • HSPC104,
  • beta-site APP-cleaving enzyme 1,
  • ASP2,
  • beta-site APP-cleaving enzyme,
  • HGNC:933,
  • AF190725,
  • BACE1
  • identifiers:
  • 23621,
  • ENSG00000186318,
  • BACE1

Genome feature

Region: gene ? Length: 31050  
Location: 11:117285207-117316256 reverse strand Cyto location: 11q23.3


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

464 SN Ps

5 Cross References

17 Data Sets

13 Homologues

0 Located Features

97 Rna Seq Results