Gene Information

Gene Information
Gene Name	BACE1
Organism	Homo sapiens (Human)
Gene Length	501
Protein Names	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)
Target Name	beta-secretase 1
Target Type	Clinical trial target
Gene Age	645 ( ENSG00000186318 )
Evolutionary Stage	Eukaryota
AlphaFoldDB	P56817
Gene Card	BACE1
Uniprot ID	P56817
Pfam	PF00026
In ASD	yes
Allosteric Prediction	yes (0.999919916)
Ortholog in Animals	Alpaca_ BACE1 ( ortholog_one2one ) Dog_ BACE1 ( ortholog_one2one ) GuineaPig_ BACE1 ( ortholog_one2one ) Macaque_ BACE1 ( ortholog_one2one ) Mouse_ Bace1 ( ortholog_one2one ) Pig_ BACE1 ( ortholog_one2one ) Rat_ Bace1 ( ortholog_one2one ) Rabbit_ BACE1 ( ortholog_one2one )
Ohnologs	BACE2
Paralogs	PGC, BACE2, REN, CTSE, NAPSA, CTSD, PGA5, PGA4, PGA3
Tissue	NA
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:0000269\|PubMed:10677483, ECO:0000269\|PubMed:11083922}.
Pharmacological Animal Models	NULL(Chimpanzee);NULL(Mouse);0.001990(Rat);0.022222(Rabbit)
Gene Ontology (biological process)
Gene Ontology (cellular component)
Gene Ontology (molecular function)
PDB	1FKN (X-ray 1.90A ) 1M4H (X-ray 2.10A ) 1PY1 (X-ray 2.60A ) 1SGZ (X-ray 2.00A ) 1TQF (X-ray 1.80A ) 1UJJ (X-ray 2.60A ) 1UJK (X-ray 1.90A ) 1W50 (X-ray 1.75A ) 1W51 (X-ray 2.55A ) 1XN2 (X-ray 1.90A ) 1XN3 (X-ray 2.00A ) 1XS7 (X-ray 2.80A ) 1YM2 (X-ray 2.05A ) 1YM4 (X-ray 2.25A ) 2B8L (X-ray 1.70A ) 2B8V (X-ray 1.80A ) 2F3E (X-ray 2.11A ) 2F3F (X-ray 2.30A ) 2FDP (X-ray 2.50A ) 2G94 (X-ray 1.86A ) 2HIZ (X-ray 2.50A ) 2HM1 (X-ray 2.20A ) 2IQG (X-ray 1.70A ) 2IRZ (X-ray 1.80A ) 2IS0 (X-ray 2.20A ) 2NTR (X-ray 1.80A ) 2OAH (X-ray 1.80A ) 2OF0 (X-ray 2.25A ) 2OHK (X-ray 2.20A ) 2OHL (X-ray 2.65A ) 2OHM (X-ray 2.70A ) 2OHN (X-ray 2.15A ) 2OHP (X-ray 2.25A ) 2OHQ (X-ray 2.10A ) 2OHR (X-ray 2.25A ) 2OHS (X-ray 2.45A ) 2OHT (X-ray 2.30A ) 2OHU (X-ray 2.35A ) 2P4J (X-ray 2.50A ) 2P83 (X-ray 2.50A ) 2P8H (X-ray 1.80A ) 2PH6 (X-ray 2.00A ) 2PH8 (X-ray 1.70A ) 2Q11 (X-ray 2.40A ) 2Q15 (X-ray 2.40A ) 2QK5 (X-ray 2.20A ) 2QMD (X-ray 1.65A ) 2QMF (X-ray 1.75A ) 2QMG (X-ray 1.89A ) 2QP8 (X-ray 1.50A ) 2QU2 (X-ray 2.60A ) 2QU3 (X-ray 2.00A ) 2QZK (X-ray 1.80A ) 2QZL (X-ray 1.80A ) 2VA5 (X-ray 2.75A ) 2VA6 (X-ray 2.50A ) 2VA7 (X-ray 2.20A ) 2VIE (X-ray 1.90A ) 2VIJ (X-ray 1.60A ) 2VIY (X-ray 1.82A ) 2VIZ (X-ray 1.60A ) 2VJ6 (X-ray 1.80A ) 2VJ7 (X-ray 1.60A ) 2VJ9 (X-ray 1.60A ) 2VKM (X-ray 2.05A ) 2VNM (X-ray 1.79A ) 2VNN (X-ray 1.87A ) 2WEZ (X-ray 1.70A ) 2WF0 (X-ray 1.60A ) 2WF1 (X-ray 1.60A ) 2WF2 (X-ray 1.80A ) 2WF3 (X-ray 2.08A ) 2WF4 (X-ray 1.80A ) 2WJO (X-ray 2.50A ) 2XFI (X-ray 1.73A ) 2XFJ (X-ray 1.80A ) 2XFK (X-ray 1.80A ) 2ZDZ (X-ray 2.00A ) 2ZE1 (X-ray 2.20A ) 2ZHR (X-ray 2.50A ) 2ZHS (X-ray 2.70A ) 2ZHT (X-ray 2.35A ) 2ZHU (X-ray 2.40A ) 2ZHV (X-ray 1.85A ) 2ZJH (X-ray 2.60A ) 2ZJI (X-ray 2.30A ) 2ZJJ (X-ray 2.20A ) 2ZJK (X-ray 3.00A ) 2ZJL (X-ray 2.10A ) 2ZJM (X-ray 1.90A ) 2ZJN (X-ray 2.70A ) 3BRA (X-ray 2.30A ) 3BUF (X-ray 2.30A ) 3BUG (X-ray 2.50A ) 3BUH (X-ray 2.30A ) 3CIB (X-ray 1.72A ) 3CIC (X-ray 1.75A ) 3CID (X-ray 1.80A ) 3CKP (X-ray 2.30A ) 3CKR (X-ray 2.70A ) 3DM6 (X-ray 2.60A ) 3DUY (X-ray 1.97A ) 3DV1 (X-ray 2.10A ) 3DV5 (X-ray 2.10A ) 3EXO (X-ray 2.10A ) 3FKT (X-ray 1.90A ) 3H0B (X-ray 2.70A ) 3HVG (X-ray 2.26A ) 3HW1 (X-ray 2.48A ) 3I25 (X-ray 2.10A ) 3IGB (X-ray 2.24A ) 3IN3 (X-ray 2.00A ) 3IN4 (X-ray 2.30A ) 3IND (X-ray 2.25A ) 3INE (X-ray 2.00A ) 3INF (X-ray 1.85A ) 3INH (X-ray 1.80A ) 3IVH (X-ray 1.80A ) 3IVI (X-ray 2.20A ) 3IXJ (X-ray 2.20A ) 3IXK (X-ray 2.50A ) 3K5C (X-ray 2.12A ) 3K5D (X-ray 2.90A ) 3K5F (X-ray 2.25A ) 3K5G (X-ray 2.00A ) 3KMX (X-ray 1.70A ) 3KMY (X-ray 1.90A ) 3KN0 (X-ray 1.90A ) 3KYR (X-ray 2.60A ) 3L38 (X-ray 2.10A ) 3L3A (X-ray 2.36A ) 3L58 (X-ray 1.80A ) 3L59 (X-ray 2.00A ) 3L5B (X-ray 1.80A ) 3L5C (X-ray 1.80A ) 3L5D (X-ray 1.75A ) 3L5E (X-ray 1.53A ) 3L5F (X-ray 1.70A ) 3LHG (X-ray 2.10A ) 3LNK (X-ray 1.80A ) 3LPI (X-ray 2.05A ) 3LPJ (X-ray 1.79A ) 3LPK (X-ray 1.93A ) 3MSJ (X-ray 1.80A ) 3MSK (X-ray 2.00A ) 3MSL (X-ray 2.40A ) 3N4L (X-ray 2.70A ) 3NSH (X-ray 2.20A ) 3OHF (X-ray 2.10A ) 3OHH (X-ray 2.01A ) 3OOZ (X-ray 1.80A ) 3PI5 (X-ray 2.40A ) 3QBH (X-ray 2.24A ) 3QI1 (X-ray 2.30A ) 3R1G (X-ray 2.80A ) 3R2F (X-ray 2.53A ) 3RSV (X-ray 2.50A ) 3RSX (X-ray 2.48A ) 3RTH (X-ray 2.70A ) 3RTM (X-ray 2.76A ) 3RTN (X-ray 2.70A ) 3RU1 (X-ray 2.30A ) 3RVI (X-ray 2.65A ) 3S2O (X-ray 2.60A ) 3S7L (X-ray 2.16A ) 3S7M (X-ray 2.20A ) 3SKF (X-ray 3.00A ) 3SKG (X-ray 2.88A ) 3TPJ (X-ray 1.61A ) 3TPL (X-ray 2.50A ) 3TPP (X-ray 1.60A ) 3TPR (X-ray 2.55A ) 3U6A (X-ray 2.20A ) 3UDH (X-ray 1.70A ) 3UDJ (X-ray 1.80A ) 3UDK (X-ray 2.51A ) 3UDM (X-ray 1.94A ) 3UDN (X-ray 2.19A ) 3UDP (X-ray 1.95A ) 3UDQ (X-ray 2.73A ) 3UDR (X-ray 1.95A ) 3UDY (X-ray 2.00A ) 3UFL (X-ray 1.90A ) 3UQP (X-ray 1.77A ) 3UQR (X-ray 3.06A ) 3UQU (X-ray 1.70A ) 3UQW (X-ray 2.20A ) 3UQX (X-ray 1.70A ) 3VEU (X-ray 1.52A ) 3VF3 (X-ray 1.48A ) 3VG1 (X-ray 1.77A ) 3VV6 (X-ray 2.05A ) 3VV7 (X-ray 2.10A ) 3VV8 (X-ray 2.50A ) 3WB4 (X-ray 2.25A ) 3WB5 (X-ray 2.50A ) 3ZMG (X-ray 1.74A ) 3ZOV (X-ray 2.10A ) 4ACU (X-ray 1.75A ) 4ACX (X-ray 2.00A ) 4AZY (X-ray 1.79A ) 4B00 (X-ray 1.83A ) 4B05 (X-ray 1.80A ) 4B0Q (X-ray 1.87A ) 4B1C (X-ray 1.95A ) 4B1D (X-ray 1.95A ) 4B1E (X-ray 1.95A ) 4B70 (X-ray 1.60A ) 4B72 (X-ray 1.60A ) 4B77 (X-ray 1.80A ) 4B78 (X-ray 1.50A ) 4BEK (X-ray 2.39A ) 4BFD (X-ray 2.30A ) 4D83 (X-ray 2.40A ) 4D85 (X-ray 2.65A ) 4D88 (X-ray 1.70A ) 4D89 (X-ray 1.65A ) 4D8C (X-ray 2.07A ) 4DH6 (X-ray 2.50A ) 4DI2 (X-ray 2.00A ) 4DJU (X-ray 1.80A ) 4DJV (X-ray 1.73A ) 4DJW (X-ray 1.90A ) 4DJX (X-ray 1.50A ) 4DJY (X-ray 1.86A ) 4DPF (X-ray 1.80A ) 4DPI (X-ray 1.90A ) 4DUS (X-ray 2.50A ) 4DV9 (X-ray 2.08A ) 4DVF (X-ray 1.80A ) 4EWO (X-ray 1.80A ) 4EXG (X-ray 1.80A ) 4FCO (X-ray 1.76A ) 4FGX (X-ray 1.59A ) 4FM7 (X-ray 1.56A ) 4FM8 (X-ray 1.90A ) 4FRI (X-ray 2.30A ) 4FRJ (X-ray 1.95A ) 4FRK (X-ray 2.10A ) 4FRS (X-ray 1.70A ) 4FS4 (X-ray 1.74A ) 4FSE (X-ray 2.65A ) 4FSL (X-ray 2.50A ) 4GID (X-ray 2.00A ) 4GMI (X-ray 1.80A ) 4H1E (X-ray 1.90A ) 4H3F (X-ray 1.70A ) 4H3G (X-ray 1.85A ) 4H3I (X-ray 1.96A ) 4H3J (X-ray 1.60A ) 4HA5 (X-ray 1.83A ) 4HZT (X-ray 1.80A ) 4I0D (X-ray 1.91A ) 4I0E (X-ray 1.70A ) 4I0F (X-ray 1.80A ) 4I0G (X-ray 1.78A ) 4I0H (X-ray 2.20A ) 4I0I (X-ray 2.20A ) 4I0J (X-ray 1.99A ) 4I0Z (X-ray 1.80A ) 4I10 (X-ray 2.07A ) 4I11 (X-ray 1.89A ) 4I12 (X-ray 1.78A ) 4I1C (X-ray 2.00A ) 4IVS (X-ray 2.64A ) 4IVT (X-ray 1.60A ) 4J0P (X-ray 1.97A ) 4J0T (X-ray 2.05A ) 4J0V (X-ray 1.94A ) 4J0Y (X-ray 1.77A ) 4J0Z (X-ray 2.13A ) 4J17 (X-ray 1.81A ) 4J1C (X-ray 2.01A ) 4J1E (X-ray 1.78A ) 4J1F (X-ray 2.25A ) 4J1H (X-ray 2.20A ) 4J1I (X-ray 2.05A ) 4J1K (X-ray 2.18A ) 4JOO (X-ray 1.80A ) 4JP9 (X-ray 1.80A ) 4JPC (X-ray 1.80A ) 4JPE (X-ray 1.80A ) 4K8S (X-ray 2.39A ) 4K9H (X-ray 2.29A ) 4KE0 (X-ray 2.30A ) 4KE1 (X-ray 1.91A ) 4L7G (X-ray 1.38A ) 4L7H (X-ray 1.85A ) 4L7J (X-ray 1.65A ) 4LC7 (X-ray 1.70A ) 4LXA (X-ray 1.95A ) 4LXK (X-ray 2.05A ) 4LXM (X-ray 2.30A ) 4N00 (X-ray 1.80A ) 4PZW (X-ray 1.80A ) 4PZX (X-ray 1.80A ) 4R5N (X-ray 1.80A ) 4R8Y (X-ray 1.90A ) 4R91 (X-ray 1.58A ) 4R92 (X-ray 1.71A ) 4R93 (X-ray 1.71A ) 4R95 (X-ray 1.99A ) 4RCD (X-ray 1.90A ) 4RCE (X-ray 2.40A ) 4RCF (X-ray 1.78A ) 4RRN (X-ray 1.80A ) 4RRO (X-ray 1.80A ) 4RRS (X-ray 1.80A ) 4TRW (X-ray 2.85A ) 4TRY (X-ray 2.75A ) 4TRZ (X-ray 3.25A ) 4WTU (X-ray 1.85A ) 4WY1 (X-ray 1.98A ) 4WY6 (X-ray 2.10A ) 4X2L (X-ray 2.55A ) 4X7I (X-ray 1.77A ) 4XKX (X-ray 1.80A ) 4XXS (X-ray 1.86A ) 4YBI (X-ray 1.84A ) 4ZPE (X-ray 1.70A ) 4ZPF (X-ray 1.80A ) 4ZPG (X-ray 2.00A ) 4ZSM (X-ray 1.96A ) 4ZSP (X-ray 1.91A ) 4ZSQ (X-ray 2.30A ) 4ZSR (X-ray 1.65A ) 5CLM (X-ray 2.61A ) 5DQC (X-ray 2.47A ) 5ENK (X-ray 2.11A ) 5ENM (X-ray 1.98A ) 5EZX (X-ray 1.90A ) 5EZZ (X-ray 2.10A ) 5F00 (X-ray 1.95A ) 5F01 (X-ray 1.52A ) 5HD0 (X-ray 1.65A ) 5HDU (X-ray 1.58A ) 5HDV (X-ray 1.71A ) 5HDX (X-ray 1.60A ) 5HDZ (X-ray 1.49A ) 5HE4 (X-ray 1.53A ) 5HE5 (X-ray 1.55A ) 5HE7 (X-ray 1.71A ) 5HTZ (X-ray 1.95A ) 5HU0 (X-ray 1.83A ) 5HU1 (X-ray 1.50A ) 5I3V (X-ray 1.62A ) 5I3W (X-ray 2.15A ) 5I3X (X-ray 1.85A ) 5I3Y (X-ray 2.15A ) 5IE1 (X-ray 2.30A ) 5KQF (X-ray 1.98A ) 5KR8 (X-ray 2.12A ) 5MBW (X-ray 2.95A ) 5MCO (X-ray 2.49A ) 5MCQ (X-ray 1.82A ) 5MXD (X-ray 2.52A ) 5QCO (X-ray 2.70A ) 5QCP (X-ray 2.45A ) 5QCQ (X-ray 1.97A ) 5QCR (X-ray 2.20A ) 5QCS (X-ray 2.31A ) 5QCT (X-ray 2.05A ) 5QCU (X-ray 1.95A ) 5QCV (X-ray 2.25A ) 5QCW (X-ray 2.10A ) 5QCX (X-ray 2.20A ) 5QCY (X-ray 2.15A ) 5QCZ (X-ray 2.30A ) 5QD0 (X-ray 2.60A ) 5QD1 (X-ray 2.40A ) 5QD2 (X-ray 2.50A ) 5QD3 (X-ray 2.46A ) 5QD4 (X-ray 2.11A ) 5QD5 (X-ray 2.30A ) 5QD6 (X-ray 2.51A ) 5QD7 (X-ray 2.12A ) 5QD8 (X-ray 2.45A ) 5QD9 (X-ray 2.60A ) 5QDA (X-ray 2.10A ) 5QDB (X-ray 2.10A ) 5QDC (X-ray 2.10A ) 5QDD (X-ray 2.00A ) 5T1U (X-ray 1.78A ) 5T1W (X-ray 2.96A ) 5TOL (X-ray 2.51A ) 5UYU (X-ray 1.90A ) 5V0N (X-ray 2.15A ) 5YGX (X-ray 2.20A ) 5YGY (X-ray 2.30A ) 6BFD (X-ray 1.62A ) 6BFE (X-ray 1.51A ) 6BFW (X-ray 1.84A ) 6BFX (X-ray 1.99A ) 6C2I (X-ray 1.95A ) 6DHC (X-ray 2.85A ) 6DMI (X-ray 1.90A ) 6E3Z (X-ray 1.94A ) 6EJ2 (X-ray 1.46A ) 6EJ3 (X-ray 1.94A ) 6EQM (X-ray 1.35A ) 6FGY (X-ray 1.54A ) 6JSE (X-ray 2.00A ) 6JSF (X-ray 2.30A ) 6JSG (X-ray 2.30A ) 6JSN (X-ray 2.60A ) 6JT3 (X-ray 2.40A ) 6JT4 (X-ray 2.20A ) 6NV7 (X-ray 2.13A ) 6NV9 (X-ray 2.13A ) 6NW3 (X-ray 2.35A ) 6OD6 (X-ray 2.00A ) 6PZ4 (X-ray 1.85A ) 6UVP (X-ray 1.56A ) 6UVV (X-ray 1.63A ) 6UVY (X-ray 1.71A ) 6UWP (X-ray 1.29A ) 6UWV (X-ray 1.47A ) 6WNY (X-ray 1.86A ) 7B1E (X-ray 1.62A ) 7B1P (X-ray 1.77A ) 7B1Q (X-ray 1.94A ) 7D2V (X-ray 2.10A ) 7D2X (X-ray 2.45A ) 7D36 (X-ray 2.30A ) 7D5A (X-ray 2.20A ) 7DCZ (X-ray 2.30A ) 7F1D (X-ray 2.05A ) 7MYI (X-ray 1.25A ) 7MYR (X-ray 1.72A ) 7MYU (X-ray 1.94A ) 7N66 (X-ray 2.10A )
DBSNP	rs28989503 rs539765
Subcellular location [CC]	Cell membrane {ECO:0000269\|PubMed:11466313}; Single-pass type I membrane protein {ECO:0000305\|PubMed:11466313}. Golgi apparatus, trans-Golgi network {ECO:0000269\|PubMed:11466313, ECO:0000269\|PubMed:15615712, ECO:0000269\|PubMed:15886016, ECO:0000269\|PubMed:17425515, ECO:0000269\|PubMed:20354142, ECO:0000269\|PubMed:23109336}. Endoplasmic reticulum {ECO:0000269\|PubMed:11466313, ECO:0000269\|PubMed:17425515}. Endosome {ECO:0000269\|PubMed:11466313, ECO:0000269\|PubMed:15886016}. Cell surface {ECO:0000269\|PubMed:11466313, ECO:0000269\|PubMed:15886016, ECO:0000269\|PubMed:17425515, ECO:0000269\|PubMed:23109336}. Cytoplasmic vesicle membrane {ECO:0000269\|PubMed:11466313, ECO:0000269\|PubMed:15886016}; Single-pass type I membrane protein {ECO:0000305\|PubMed:11466313}. Membrane raft {ECO:0000250\|UniProtKB:P56818}. Lysosome {ECO:0000269\|PubMed:16033761, ECO:0000269\|PubMed:23109336, ECO:0000269\|PubMed:27084579, ECO:0000269\|PubMed:27302062}. Late endosome {ECO:0000269\|PubMed:16033761, ECO:0000269\|PubMed:23109336, ECO:0000269\|PubMed:27084579, ECO:0000269\|PubMed:27302062}. Early endosome {ECO:0000269\|PubMed:15615712, ECO:0000269\|PubMed:15886016, ECO:0000269\|PubMed:23109336, ECO:0000269\|PubMed:27084579, ECO:0000269\|PubMed:27302062}. Recycling endosome {ECO:0000269\|PubMed:15886016, ECO:0000269\|PubMed:27084579, ECO:0000269\|PubMed:27302062}. Cell projection, axon {ECO:0000250\|UniProtKB:P56818}. Cell projection, dendrite {ECO:0000250\|UniProtKB:P56818}. 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 (PubMed:17425515, PubMed:11466313). Colocalization with APP in early endosomes is due to addition of bisecting N-acetylglucosamine wich blocks targeting to late endosomes and lysosomes (By similarity). Retrogradly transported from endosomal compartments to the trans-Golgi network in a phosphorylation- and GGA1- dependent manner (PubMed:15886016). {ECO:0000250\|UniProtKB:P56818, ECO:0000269\|PubMed:11466313, ECO:0000269\|PubMed:15886016, ECO:0000269\|PubMed:17425515}.
Mouse PG classification	NA
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