• Gene id: 23621

Gene Summary

• Gene Symbol: BACE1   Gene   UCSC   Ensembl
• Aliases: ASP2, BACE, HSPC104
• Gene name: beta-secretase 1
• Alternate names: beta-secretase 1, 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, beta-site amyloid beta A4 precursor protein-cleaving enzyme, memapsin-2, membrane-associated asp,
• Gene location: 11q23.3 (117316255: 117285206)     Exons: 10     NC_000011.10
• Gene summary(Entrez): 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. Thi
• OMIM: 601019

Protein Summary

• Protein general information: P56817  
  • Name: Beta secretase 1 (EC 3.4.23.46) (Aspartyl protease 2) (ASP2) (Asp 2) (Beta site amyloid precursor protein cleaving enzyme 1) (Beta site APP cleaving enzyme 1) (Memapsin 2) (Membrane associated aspartic protease 2)
  • Length: 501  
  • Mass: 55764
  • 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. {ECO
• Sequence:

  MAQALPWLLLWMGAGVLPAHGTQHGIRLPLRSGLGGAPLGLRLPRETDEEPEEPGRRGSFVEMVDNLRGKSGQGY
  YVEMTVGSPPQTLNILVDTGSSNFAVGAAPHPFLHRYYQRQLSSTYRDLRKGVYVPYTQGKWEGELGTDLVSIPH
  GPNVTVRANIAAITESDKFFINGSNWEGILGLAYAEIARPDDSLEPFFDSLVKQTHVPNLFSLQLCGAGFPLNQS
  EVLASVGGSMIIGGIDHSLYTGSLWYTPIRREWYYEVIIVRVEINGQDLKMDCKEYNYDKSIVDSGTTNLRLPKK
  VFEAAVKSIKAASSTEKFPDGFWLGEQLVCWQAGTTPWNIFPVISLYLMGEVTNQSFRITILPQQYLRPVEDVAT
  SQDDCYKFAISQSSTGTVMGAVIMEGFYVVFDRARKRIGFAVSACHVHDEFRTAAVEGPFVTLDMEDCGYNIPQT
  DESTLMTIAYVMAAICALFMLPLCLMVCQWRCLRCLRQQHDDFADDISLLK

• Structural information:
  • Protein Domains: (75..41-)
    (/note="Peptidase-A1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01103"-)
  • Interpro: IPR001461  IPR001969  IPR009119  IPR009120  IPR033874   IPR033121  IPR021109  
  • Prosite: PS00141 PS51767
  • CDD: cd05473
  • PDB: 1FKN 1M4H 1PY1 1SGZ 1TQF 1UJJ 1UJK 1W50 1W51 1XN2 1XN3 1XS7 1YM2 1YM4 2B8L 2B8V 2F3E 2F3F 2FDP 2G94 2HIZ 2HM1 2IQG 2IRZ 2IS0 2NTR 2OAH 2OF0 2OHK 2OHL 2OHM 2OHN 2OHP 2OHQ 2OHR 2OHS 2OHT 2OHU 2P4J 2P83 2P8H 2PH6 2PH8 2Q11 2Q15 2QK5 2QMD 2QMF 2QMG 2QP8 2QU2 2QU3 2QZK 2QZL 2VA5 2VA6 2VA7 2VIE 2VIJ 2VIY 2VIZ 2VJ6 2VJ7 2VJ
  • PDBsum: 1FKN 1M4H 1PY1 1SGZ 1TQF 1UJJ 1UJK 1W50 1W51 1XN2 1XN3 1XS7 1YM2 1YM4 2B8L 2B8V 2F3E 2F3F 2FDP 2G94 2HIZ 2HM1 2IQG 2IRZ 2IS0 2NTR 2OAH 2OF0 2OHK 2OHL 2OHM 2OHN 2OHP 2OHQ 2OHR 2OHS 2OHT 2OHU 2P4J 2P83 2P8H 2PH6 2PH8 2Q11 2Q15 2QK5 2QMD 2QMF 2QMG 2QP8 2QU2 2QU3 2QZK 2QZL 2VA5 2VA6 2VA7 2VIE 2VIJ 2VIY 2VIZ 2VJ6 2VJ7 2VJ
  • DIP: 41388
  • STRING: ENSP00000318585
• Other Databases: GeneCards:  BACE1  Malacards:  BACE1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005769	early endosome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042987	amyloid precursor protein catabolic process	ISS	biological process
GO:0043525	positive regulation of neuron apoptotic process	IGI	biological process
GO:0008233	peptidase activity	IDA	molecular function
GO:0016020	membrane	IBA	cellular component
GO:0030163	protein catabolic process	IBA	biological process
GO:0004190	aspartic-type endopeptidase activity	IBA	molecular function
GO:0005768	endosome	IBA	cellular component
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0005802	trans-Golgi network	IBA	cellular component
GO:0006508	proteolysis	IBA	biological process
GO:0006509	membrane protein ectodomain proteolysis	IBA	biological process
GO:0050435	amyloid-beta metabolic process	IBA	biological process
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0055037	recycling endosome	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0006508	proteolysis	IDA	biological process
GO:0050435	amyloid-beta metabolic process	IDA	biological process
GO:0005764	lysosome	IDA	cellular component
GO:0055037	recycling endosome	IDA	cellular component
GO:0055037	recycling endosome	IDA	cellular component
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0005770	late endosome	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0005770	late endosome	IDA	cellular component
GO:0005770	late endosome	IDA	cellular component
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0005770	late endosome	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0009986	cell surface	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0004190	aspartic-type endopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0004190	aspartic-type endopeptidase activity	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0008798	beta-aspartyl-peptidase activity	TAS	molecular function
GO:0070931	Golgi-associated vesicle lumen	TAS	cellular component
GO:0070931	Golgi-associated vesicle lumen	TAS	cellular component
GO:0070931	Golgi-associated vesicle lumen	TAS	cellular component
GO:0070931	Golgi-associated vesicle lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071287	cellular response to manganese ion	IEA	biological process
GO:0071280	cellular response to copper ion	IEA	biological process
GO:0060134	prepulse inhibition	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0009314	response to radiation	IEA	biological process
GO:0098793	presynapse	IEA	cellular component
GO:0098686	hippocampal mossy fiber to CA3 synapse	IEA	cellular component
GO:0050804	modulation of chemical synaptic transmission	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0004175	endopeptidase activity	IEA	molecular function
GO:1904646	cellular response to amyloid-beta	IEA	biological process
GO:0050966	detection of mechanical stimulus involved in sensory perception of pain	IEA	biological process
GO:0050435	amyloid-beta metabolic process	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0010288	response to lead ion	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:2000300	regulation of synaptic vesicle exocytosis	IEA	biological process
GO:0055037	recycling endosome	IEA	cellular component
GO:0050435	amyloid-beta metabolic process	IEA	biological process
GO:0042987	amyloid precursor protein catabolic process	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0006509	membrane protein ectodomain proteolysis	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0005802	trans-Golgi network	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0004190	aspartic-type endopeptidase activity	IEA	molecular function
GO:0045121	membrane raft	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0055037	recycling endosome	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005770	late endosome	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0001540	amyloid-beta binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006509	membrane protein ectodomain proteolysis	IDA	biological process
GO:0005770	late endosome	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0050435	amyloid-beta metabolic process	IDA	biological process
GO:0006508	proteolysis	IDA	biological process
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005771	multivesicular body	IDA	cellular component
GO:0005768	endosome	IDA	cellular component
GO:0004190	aspartic-type endopeptidase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006509	membrane protein ectodomain proteolysis	TAS	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0016021	integral component of membrane	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease

Diseases

Associated diseases	References
Alzheimer's disease	PMID:12824768
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881