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 | OLI665; OLI1470; OLI1471; OLI1634; OLI1626; OLI661 |
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 |