Details for Gene MAPT

GENE NAME MAPT
CHROMOSOME 17
ENSEMBL ID None
ENTREZ ID ENSG00000186868
UNIPROT ACCESSION NUMBER P10636
GO MOLECULAR FUNCTION ['enzyme binding', 'single-stranded DNA binding', 'histone-dependent DNA binding', 'double-stranded DNA binding', 'sequence-specific DNA binding', 'minor groove of adenine-thymine-rich DNA binding', 'SH3 domain binding', 'Hsp90 protein binding', 'protein kinase binding', 'lipoprotein particle binding', 'RNA binding', 'dynactin binding', 'protein phosphatase 2A binding', 'identical protein binding', 'microtubule binding', 'phosphatidylinositol binding', 'chaperone binding', 'phosphatidylinositol bisphosphate binding', 'DNA binding', 'protein-macromolecule adaptor activity', 'apolipoprotein binding', 'protein binding', 'microtubule lateral binding', 'actin binding']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa04010; hsa05010; hsa05012; hsa05022; hsa04010; hsa05010; hsa05012; hsa05022; R-HSA-109581; R-HSA-111465; R-HSA-264870; R-HSA-5357801; R-HSA-75153
6 combinations linked to MAPT OLI1634; OLI665; OLI1470; OLI661; OLI1471; OLI1626
5 variants linked to MAPT MAPT:c.671T>G, p.Val224Gly; MAPT:c.1013G>A, p.Arg338Gln; MAPT:c.1667G>C, p.Arg556Pro; MAPT:c.1293delinsTT, p.Cys432LeufsTer9; MAPT:c.683C>G, p.Ser228Cys
2 diseases linked to MAPT NON RARE IN EUROPE: Alzheimer disease; Amyotrophic lateral sclerosis

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