| protein
| SFRS10 (target gene for the alternative splicing regulator SFRS10) |
|
Rb binding protein Che-1 (AATF) |
|
apolipoprotein E3 (ApoE3) |
|
calmodulin 1 (phosphorylase kinase, delta) (CALM1) |
|
Fyn kinase (FYN) |
|
prolyl isomerase Pin1 |
|
Presenilin 1 (PSEN1) |
|
S100 calcium binding protein B (S100B) |
|
alpha-synuclein (SNCA) |
|
spectrin (SPTB) |
|
alpha and beta tubulin |
|
ubiquitin |
|
14-3-3zeta protein |
|
beta PP peptide |
|
BCL2-associated athanogene 1 (BAG-1) |
|
Amyloid-beta protein (Abeta) |
|
interacting with CALM1 (the lack of MAPT in neurons changes the subcellular localization of CALM1 and that it correlates with a change in the expression of calbindin)  |
|
SRSF4 binds to the proximal downstream intron of MAPT exon 10 at the FTDP-17 hotspot region and interacts with RBMX and PCBP2 (increased exon 10 inclusion in FTDP mutants may arise from weakened SRSF4 binding) |
|
YWHAZ monomeric form interacts with MAPT and with the HSPB6 protein |
|
GSK3B activity regulates mitochondrial axonal trafficking largely in a MAPT-dependent manner |
|
HTRA1 degrades MAPT aggregates and is induced by its substrates |
|
CDC37 is essential for the stability of TARDBP and can be affected by MAPT accumulation |
|
MAPT mRNA is a physiological splicing target of FUS |
|
SRSF6 promoted MAPT exon 10 inclusion, and the promotion of MAPT exon 10 inclusion by SRSF6 required the arginine/serine-rich region, which was responsible for the subnucleic speckle localization |
|
interaction of endogenous MAPT protein with synaptic proteins is regulated by N-methyl-D-aspartate receptor-dependent MAPT phosphorylation |
|
NUB1 interacted with both MAPT and GSK3B to disrupt their interaction, and abolished recruitment of GSK3B to MAPT inclusions |
|
ER stress reduced the binding between MAPT and STUB1, ubiquitin E3 ligase for MAPT (STUB1 binds to MAPT and is thought to promote the degradation of MAPT by its ubiquitination through ubiquitin–proteasome system) |
|
NMNAT2 affects MAPT phosphorylation by regulating PPP2CA activity |
|
novel function for PSEN1 in modulating NUP62 expression to control the proteostasis of MAPT |
|
YWHAZ has a role in the fibrillization of MAPT in Alzheimer brain, and MAPT phosphorylation does not affect YWHAZ-induced MAPT aggregation |
|
EFHD2 co-aggregates and interacts with known neuropathological proteins, such as MAPT, C9orf72, and LRRK2 |
|
regulatory role of DYRK1A in controlling MAPT and SNCA |
|
CX3CR1 is a novel target for the clearance of extracellular MAPT |
|
CX3CR1/CX3CL1 axis plays a key role in the phagocytosis of MAPT by microglia and that it is affected as Alzheimer disease progresses |
|
DNAJA2 levels were correlated with MAPT pathology in human brains, supporting the idea that it is an important regulator of MAPT homeostasis |
|
DNAJA2 is an unexpected, but potent, inhibitor of MAPT aggregation |
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| tumoral
|
|
| --over
|
| |
in extraskeletal myxoid chondrosarcoma and chordoma | | constitutional
|
|
|
| loss of function
| |
forming tangles of paired helical filaments (PHF) consisting of hyperphosphorylated tau protein in Alzheimer disease | | constitutional
|
| insertion
|
|
| |
inclusion of exon 6c decreases in DM1 (myotonic dystrophy 1) brains compared to control brains whereas inclusion of 6d increases | | constitutional
|
|
|
| gain of function
| |
and KLC1 axonal transport defects can initiate neurodegeneration and/or exacerbate human tau-dependent disease pathways in AD and other neurodegenerative tauopathies | | constitutional
|
|
| --other
|
| |
splicing misregulation of adult-specific exon 10, which codes for a microtubule binding domain, results in expression of abnormal ratios of tau isoforms, leading to FTDP17 | | constitutional
|
|
| --other
|
| |
loss of axonal mitochondria may play an important role in tau phosphorylation and toxicity in the pathogenesis of AD | | constitutional
|
|
| --over
|
| |
increased levels of neuronal MAPT are an important factor in the progression of tauopathy, and ER stress-induced increase in total MAPT protein is due to a delay in its degradation | |
| Variant & Polymorphism
SNP
, other
| over-representation of the soluble four repeats tau isoforms which may need a genetic defect in tau and a mitochondrial defect either genetic or toxic leading to tau aggregation |
|
SNP H1 preferentially associated with Parkinson disease and H1C with Alzheimer disease |
|
SNP 14 and 21 increasing the risk of progressive supranuclear palsy and corticobasal degeneration |
|
genotypes at SNP9 interact with SNP6 genotypes to increase risk of amyotrophic lateral sclerosis-parkinsonsim/dementia complex of Guam |
|
H1 haplotype increased in neurodegenerative disorders such as progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), frontotemporal dementia (FTD) and Parkinson's disease (PD) |
|
H2 haplotype has been found to be related to familial FTD |
|
; H1 haplotype is associated with a particular cerebral morphology that may increase the susceptibility of the healthy carriers to develop neurodegenerative diseases such as sporadic tauopathies |
| 
|
