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This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differentially expressed in the nervous system, depending on stage of neuronal maturation and neuron type. MAPT gene mutations have been associated with several neurodegenerative disorders such as Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy. [provided by RefSeq, Jul 2008]
MAPT (Microtubule Associated Protein Tau) is a Protein Coding gene. Diseases associated with MAPT include Frontotemporal Dementia and Supranuclear Palsy, Progressive, 1. Among its related pathways are Neuroscience and Development Slit-Robo signaling. Gene Ontology (GO) annotations related to this gene include protein kinase binding and microtubule binding. An important paralog of this gene is MAP2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003677 | DNA binding | TAS | 28386764 |
GO:0003680 | AT DNA binding | TAS | 28386764 |
GO:0003690 | double-stranded DNA binding | TAS | 28386764 |
GO:0003697 | single-stranded DNA binding | TAS | 28386764 |
GO:0003723 | RNA binding | TAS | 28386764 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | NAS | 28386764 |
GO:0005623 | cell | TAS | -- |
GO:0005634 | nucleus | ISS,TAS | 28386764 |
GO:0005737 | cytoplasm | IMP,ISS | -- |
GO:0005739 | mitochondrion | TAS | 28386764 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Apoptotic execution phase |
.31
|
|
2 | Parkinson disease | ||
3 | MAPK signaling pathway | ||
4 | Development Slit-Robo signaling |
Development Slit-Robo signaling
.44
|
Neurophysiological process Receptor-mediated axon growth repulsion
.44
|
5 | IL-2 Signaling Pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000226 | microtubule cytoskeleton organization | IDA,NAS | 28377597 |
GO:0001774 | microglial cell activation | TAS | 26363795 |
GO:0006475 | internal protein amino acid acetylation | TAS | 28386764 |
GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | TAS | 26363795 |
GO:0007267 | cell-cell signaling | NAS | 28386764 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Docetaxel | Approved, Investigational | Pharma | Target | Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes | 2330 | |
Paclitaxel | Approved, Vet_approved | Pharma | Target | Tubulin and Bcl2 inhibitor, Taxanes | 3701 | |
Astemizole | Approved, Withdrawn | Pharma | Pore Blocker, Inhibitor, Target | 0 | ||
Flortaucipir F-18 | Approved, Investigational | Pharma | Target, binder | 0 | ||
Lansoprazole | Approved, Investigational | Pharma | Target | H+,K+-ATPase inhibitor | 255 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15a | · | 15b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||||||||||||||
SP7: | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MAPT 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MAPT 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MAPT 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MAPT 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Mapt 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mapt 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | MAPT 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MAPT 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MAPT 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mapt 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mapta 31 |
|
OneToMany | |
maptb 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | tau 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | ptl-1 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
323695 | Uncertain Significance: MAPT-Related Spectrum Disorders | 46,026,459(+) | TG/CA | THREE_PRIME_UTR_VARIANT | |
638372 | Uncertain Significance: Frontotemporal dementia; Multiple system atrophy; Pick's disease; Progressive supranuclear ophthalmoplegia | 45,983,468(+) | C/A | MISSENSE_VARIANT,INTRON_VARIANT | |
640803 | Uncertain Significance: Frontotemporal dementia | 45,996,497(+) | C/T | MISSENSE_VARIANT | |
648859 | Conflicting Interpretations: Frontotemporal dementia; MAPT-Related Spectrum Disorders | 45,974,448(+) | C/T | MISSENSE_VARIANT,INTRON_VARIANT | |
662109 | Uncertain Significance: Frontotemporal dementia | 45,974,435(+) | G/A | MISSENSE_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv127e55 | CNV | gain | 17911159 |
dgv128e55 | CNV | gain | 17911159 |
dgv3178n100 | CNV | gain | 25217958 |
dgv935e212 | CNV | loss | 25503493 |
esv2676042 | CNV | deletion | 23128226 |
esv2715976 | CNV | deletion | 23290073 |
esv2751686 | CNV | gain | 17911159 |
esv2758692 | CNV | gain+loss | 17122850 |
esv2762433 | CNV | gain+loss | 21179565 |
esv3554475 | CNV | deletion | 23714750 |
esv3582707 | CNV | loss | 25503493 |
esv6819 | CNV | gain | 19470904 |
nsv1071390 | CNV | deletion | 25765185 |
nsv1072740 | CNV | deletion | 25765185 |
nsv1138547 | CNV | deletion | 24896259 |
nsv1146669 | OTHER | inversion | 26484159 |
nsv2068 | CNV | insertion | 18451855 |
nsv469537 | CNV | gain+loss | 16826518 |
nsv469705 | CNV | loss | 16826518 |
nsv471698 | CNV | gain+loss | 15918152 |
nsv478992 | CNV | novel sequence insertion | 20440878 |
nsv510714 | CNV | deletion | 20534489 |
nsv575142 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
frontotemporal dementia |
|
|
supranuclear palsy, progressive, 1 |
|
|
parkinson disease, late-onset |
|
|
parkinson-dementia syndrome |
|
|
pick disease of brain |
|