P56817

PTMD Annotation Information

※ Protein Information

Tag	Content
UniProt Accession	BACE1_HUMAN; P56817;
Entrez ID	23621
GenBank Protein ID	NM_001207049.1; NM_012104.4; NM_138971.3; NM_138972.3; NM_138973.3;
GenBank Nucleotide ID	NP_001193978.1; NP_036236.1; NP_620427.1; NP_620428.1; NP_620429.1;
Protein 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)
Gene Name	BACE1; BACE; KIAA1149
Organism	Homo sapiens
NCBI Taxa ID	9606
Functional Description	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. Functional Description 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.
Sequence (Fasta)	MAQALPWLLL WMGAGVLPAH GTQHGIRLPL RSGLGGAPLG LRLPRETDEE PEEPGRRGSF 60 VEMVDNLRGK SGQGYYVEMT VGSPPQTLNI LVDTGSSNFA VGAAPHPFLH RYYQRQLSST 120 YRDLRKGVYV PYTQGKWEGE LGTDLVSIPH GPNVTVRANI AAITESDKFF INGSNWEGIL 180 GLAYAEIARP DDSLEPFFDS LVKQTHVPNL FSLQLCGAGF PLNQSEVLAS VGGSMIIGGI 240 DHSLYTGSLW YTPIRREWYY EVIIVRVEIN GQDLKMDCKE YNYDKSIVDS GTTNLRLPKK 300 VFEAAVKSIK AASSTEKFPD GFWLGEQLVC WQAGTTPWNI FPVISLYLMG EVTNQSFRIT 360 ILPQQYLRPV EDVATSQDDC YKFAISQSST GTVMGAVIME GFYVVFDRAR KRIGFAVSAC 420 HVHDEFRTAA VEGPFVTLDM EDCGYNIPQT DESTLMTIAY VMAAICALFM LPLCLMVCQW 480 RCLRCLRQQH DDFADDISLL K 502 Fasta Sequence >P56817\|BACE1; BACE; KIAA1149\|Homo sapiens (Human) MAQALPWLLLWMGAGVLPAHGTQHGIRLPLRSGLGGAPLGLRLPRETDEEPEEPGRRGSFVEMVDNLRGKSGQGYYVEMTVGSPPQTLNILVDTGSSNFAVGAAPHPFLHRYYQRQLSSTYRDLRKGVYVPYTQGKWEGELGTDLVSIPHGPNVTVRANIAAITESDKFFINGSNWEGILGLAYAEIARPDDSLEPFFDSLVKQTHVPNLFSLQLCGAGFPLNQSEVLASVGGSMIIGGIDHSLYTGSLWYTPIRREWYYEVIIVRVEINGQDLKMDCKEYNYDKSIVDSGTTNLRLPKKVFEAAVKSIKAASSTEKFPDGFWLGEQLVCWQAGTTPWNIFPVISLYLMGEVTNQSFRITILPQQYLRPVEDVATSQDDCYKFAISQSSTGTVMGAVIMEGFYVVFDRARKRIGFAVSACHVHDEFRTAAVEGPFVTLDMEDCGYNIPQTDESTLMTIAYVMAAICALFMLPLCLMVCQWRCLRCLRQQHDDFADDISLLK

※ PTM-Disease Association

Num	PTM	Disease	Cell Type	Type	PTM Site	PMID
1	Threonine Phosphorylation	Alzheimer's disease		U	T252	26317805
1	[Reference]: First, we show that BACE1 is phosphorylated by the p25/Cdk5 complex at Thr252 and that this phosphorylation increases BACE1 activity.
2	Serine Phosphorylation	Alzheimer's disease		D	S498	28946017
2	[Reference]: Decreased in AD brains

※ Disease Cross-ref Annotation

Database	Annotation
CTD (Curated) (count: 1)	MESH:D000544 ; Alzheimer Disease
DisGeNet (Curated) (count: 2)	C0002395; Alzheimer's Disease C0036341; Schizophrenia
GWASdb (count: 3)	rs1047964; Cardiovascular disease risk factors; cardiovascular system disease rs676134; Body mass index; obesity rs593245; Body mass index; obesity

※ PTM Sites

PTM	Modification Sites
Phosphorylation (count: 5)	252 YTGSLWYTPIRREWY dbPAF 260 PIRREWYYEVIIVRV dbPAF 308 VFEAAVKSIKAASST dbPAF 498 DDFADDISLLK**** dbPAF 71 VDNLRGKSGQGYYVE dbPAF
Sumoylation (count: 1)	275 EINGQDLKMDCKEYN PLMD

※ Protein-Protein Interaction

Network

Interaction

A

B

Source

P05067	P56817	IntAct
P49768	P56817	HPRD