Human Gene MAPT (uc021tyw.1) Description and Page Index
  Description: Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 7, mRNA.
RefSeq Summary (NM_001203251): 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].
Transcript (Including UTRs)
   Position: hg19 chr17:43,971,748-44,105,699 Size: 133,952 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg19 chr17:44,039,704-44,101,537 Size: 61,834 Coding Exon Count: 9 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:43,971,748-44,105,699)mRNA (may differ from genome)Protein (381 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
HGNCLynxMGIOMIMPubMedReactome
Stanford SOURCEUniProtKBWikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MAPT
CDC HuGE Published Literature: MAPT
Positive Disease Associations: , Alzheimer Disease|Alzheimer's Disease , Alzheimer's Disease , cognitive ability , dementia, frontotemporal , Familial atypical progressive supranuclear palsy , frontotemporal dementia and Pick-like 3R and 4R tauopathy , Hip , inherited dementia FTDP-17 , Neurodegenerative Diseases|Supranuclear Palsy, Progressive , Parkinson Disease , Parkinson's disease , primary progressive aphasia , progressive supranuclear palsy , Supranuclear Palsy, Progressive
Related Studies:

  1. John S K Kauwe , et al. Proceedings of the National Academy of Sciences of the United States of America 2008 105(23):8050-4, Variation in MAPT is associated with cerebrospinal fluid tau levels in the presence of amyloid-beta deposition., Proceedings of the National Academy of Sciences of the United States of America 2008 105(23):8050-4. [PubMed 18541914]
  2. Alzheimer Disease|Alzheimer's Disease
    Di Maria E et al. 2010, The H1 Haplotype of the Tau Gene (MAPT) is Associated with Mild Cognitive Impairment., Journal of Alzheimer's disease : JAD 19(3) : 909-14 2010. [PubMed 20157246]
    Case-control analysis showed that the common H1 haplotype of the tau protein gene (MAPT) is significantly overrepresented in patients with mild cognitive impairment. This finding was confirmed when the ε4 allele of the APOE gene was taken into account. The study firstly suggested that the risk of mild cognitive impairment is influenced by tau protein gene variations and that mild cognitive impairment shares a common genetic background with Alzheimer's disease.
  3. Alzheimer's Disease
    Bullido MJ et al. 2000, A polymorphism in the tau gene associated with risk for Alzheimer's disease., Neuroscience letters. 2000 Jan;278(2-Jan):49-52. [PubMed 10643798]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: MAPT
Diseases sorted by gene-association score: pick disease* (1270), supranuclear palsy, progressive* (1238), dementia, frontotemporal* (888), supranuclear palsy, progressive atypical* (550), parkinson disease, late-onset* (427), mapt-related disorders* (100), frontotemporal dementia with parkinsonism-17* (100), dementia (49), corticobasal degeneration (29), semantic dementia (27), alzheimer disease (25), classic progressive supranuclear palsy syndrome* (25), progressive supranuclear palsy-progressive non-fluent aphasia syndrome* (25), progressive supranuclear palsy-corticobasal syndrome* (25), progressive supranuclear palsy-pure akinesia with gait freezing syndrome* (25), agraphia (22), postencephalitic parkinson disease (22), aphasia (20), apraxia (18), normal pressure hydrocephalus (17), multiple system atrophy (15), vascular dementia (14), creutzfeldt-jakob disease (13), inclusion body myositis (13), posterior cortical atrophy (13), dementia, lewy body (12), progressive non-fluent aphasia* (11), amyotrophic lateral sclerosis-parkinsonism/dementia complex (11), frontotemporal lobar degeneration with ubiquitin-positive inclusions (11), behavioral variant of frontotemporal dementia* (10), motor neuron disease (10), parkinson disease 5 (10), synucleinopathy (9), tremor (9), ideomotor apraxia (9), leukoencephalopathy, diffuse hereditary, with spheroids (8), speech and communication disorders (8), wernicke encephalopathy (8), panencephalitis, subacute sclerosing (8), myxoid chondrosarcoma (7), nominal aphasia (7), basal ganglia disease (7), communicating hydrocephalus (7), learning disability (6), central nervous system disease (6), neuronal intranuclear inclusion disease (6), snca-related parkinson disease (6), aneurysmal bone cysts (6), posterior myocardial infarction (6), myositis (6), prion disease (6), akinetic mutism (6), movement disease (6), hydrocephalus (6), alzheimer disease mitochondrial (6), parkinson disease susceptibility (5), spinocerebellar ataxia 11 (5), mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (5), niemann-pick disease, type c1 (5), kluver-bucy syndrome (5), alzheimer disease-2 (5), breast abscess (4), amyotrophic lateral sclerosis 1 (4), binswanger's disease (4), streptococcal meningitis (4), byssinosis (3), nervous system disease (2), disease of mental health (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 50.30 RPKM in Brain - Cerebellum
Total median expression: 458.70 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -138.72322-0.431 Picture PostScript Text
3' UTR -1622.404162-0.390 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00418 - Tau and MAP protein, tubulin-binding repeat

ModBase Predicted Comparative 3D Structure on P10636-4
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
 Gene Details    
 Gene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  JA482023 - Sequence 6 from Patent WO2011072091.
JA482024 - Sequence 7 from Patent WO2011072091.
JA482025 - Sequence 8 from Patent WO2011072091.
JA482026 - Sequence 9 from Patent WO2011072091.
JA482027 - Sequence 10 from Patent WO2011072091.
JA482028 - Sequence 11 from Patent WO2011072091.
JE980315 - Sequence 6 from Patent EP2862929.
JE980316 - Sequence 7 from Patent EP2862929.
JE980317 - Sequence 8 from Patent EP2862929.
JE980318 - Sequence 9 from Patent EP2862929.
JE980319 - Sequence 10 from Patent EP2862929.
JE980320 - Sequence 11 from Patent EP2862929.
AK095802 - Homo sapiens cDNA FLJ38483 fis, clone FEBRA2022972, highly similar to Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 4, mRNA.
AK299658 - Homo sapiens cDNA FLJ57789 complete cds, highly similar to Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 4, mRNA.
AK299704 - Homo sapiens cDNA FLJ60852 complete cds, highly similar to Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 4, mRNA.
BC000558 - Homo sapiens microtubule-associated protein tau, mRNA (cDNA clone IMAGE:3162763), complete cds.
J03778 - Human microtubule-associated protein tau mRNA, complete cds.
BC099721 - Homo sapiens microtubule-associated protein tau, mRNA (cDNA clone IMAGE:40007443), complete cds.
BC101936 - Homo sapiens microtubule-associated protein tau, mRNA (cDNA clone IMAGE:40007441), complete cds.
BC098281 - Homo sapiens microtubule-associated protein tau, mRNA (cDNA clone IMAGE:40007442), complete cds.
BC114504 - Homo sapiens microtubule-associated protein tau, transcript variant 4, mRNA (cDNA clone IMAGE:40007444), complete cds.
BC114948 - Homo sapiens microtubule-associated protein tau, mRNA (cDNA clone IMAGE:40007445), complete cds.
X14474 - Human mRNA for microtubule-associated tau protein.
BT006772 - Homo sapiens microtubule-associated protein tau mRNA, complete cds.
KJ891579 - Synthetic construct Homo sapiens clone ccsbBroadEn_00973 MAPT gene, encodes complete protein.
KR711803 - Synthetic construct Homo sapiens clone CCSBHm_00031040 MAPT (MAPT) mRNA, encodes complete protein.
KR711804 - Synthetic construct Homo sapiens clone CCSBHm_00031060 MAPT (MAPT) mRNA, encodes complete protein.
AY730549 - Homo sapiens microtubule-associated tau protein mRNA, complete cds.
JD399206 - Sequence 380230 from Patent EP1572962.
JD141958 - Sequence 122982 from Patent EP1572962.
JD323523 - Sequence 304547 from Patent EP1572962.
JD564072 - Sequence 545096 from Patent EP1572962.
AK226139 - Homo sapiens mRNA for Splice isoform Tau-C of P10636 variant, clone: pg00222.
AK024390 - Homo sapiens cDNA FLJ14328 fis, clone PLACE4000252.
AY526356 - Homo sapiens microtubule-associated protein tau mRNA, partial cds.
MA000381 - JP 2018002694-A/1: Prophylactic or therapeutic agent for cancer.
JD282600 - Sequence 263624 from Patent EP1572962.
JD540373 - Sequence 521397 from Patent EP1572962.
AB073354 - Homo sapiens primary neuroblastoma cDNA, clone:Nbla03755, full insert sequence.
JD133045 - Sequence 114069 from Patent EP1572962.
JD543537 - Sequence 524561 from Patent EP1572962.
JD052859 - Sequence 33883 from Patent EP1572962.
JD112610 - Sequence 93634 from Patent EP1572962.
JD089851 - Sequence 70875 from Patent EP1572962.
JD280515 - Sequence 261539 from Patent EP1572962.
JD339636 - Sequence 320660 from Patent EP1572962.
JD500613 - Sequence 481637 from Patent EP1572962.
JD283863 - Sequence 264887 from Patent EP1572962.
JD496220 - Sequence 477244 from Patent EP1572962.
JD266925 - Sequence 247949 from Patent EP1572962.
JD485377 - Sequence 466401 from Patent EP1572962.
JD476029 - Sequence 457053 from Patent EP1572962.
JD109049 - Sequence 90073 from Patent EP1572962.
JD480252 - Sequence 461276 from Patent EP1572962.
JD186443 - Sequence 167467 from Patent EP1572962.
JD476515 - Sequence 457539 from Patent EP1572962.
JD406491 - Sequence 387515 from Patent EP1572962.
JD193475 - Sequence 174499 from Patent EP1572962.
BC071830 - Homo sapiens cDNA clone IMAGE:6277209, partial cds.
BC094805 - Homo sapiens cDNA clone IMAGE:5015789.
JD262986 - Sequence 244010 from Patent EP1572962.
JD402055 - Sequence 383079 from Patent EP1572962.
JD376886 - Sequence 357910 from Patent EP1572962.
JD206388 - Sequence 187412 from Patent EP1572962.
BC061892 - Homo sapiens cDNA clone IMAGE:3457926, partial cds.
JD054808 - Sequence 35832 from Patent EP1572962.
JD143780 - Sequence 124804 from Patent EP1572962.
LF782138 - JP 2016523980-A/7: MicroRNAs that Silence Tau Expression.
AK055986 - Homo sapiens cDNA FLJ31424 fis, clone NT2NE2000392.
JD554584 - Sequence 535608 from Patent EP1572962.
JD345145 - Sequence 326169 from Patent EP1572962.
JD105193 - Sequence 86217 from Patent EP1572962.
JD470589 - Sequence 451613 from Patent EP1572962.
JD491832 - Sequence 472856 from Patent EP1572962.
JD420740 - Sequence 401764 from Patent EP1572962.
JD548633 - Sequence 529657 from Patent EP1572962.
JD492807 - Sequence 473831 from Patent EP1572962.
AF456477 - Homo sapiens G protein beta1/gamma2 subunit-interacting factor 1, partial sequence.
BC032572 - Homo sapiens cDNA clone IMAGE:5244499.
JD114888 - Sequence 95912 from Patent EP1572962.
JD476868 - Sequence 457892 from Patent EP1572962.
BC040444 - Homo sapiens microtubule-associated protein tau, mRNA (cDNA clone IMAGE:5770508).
JD075951 - Sequence 56975 from Patent EP1572962.
JD391264 - Sequence 372288 from Patent EP1572962.
JD163713 - Sequence 144737 from Patent EP1572962.
JD326539 - Sequence 307563 from Patent EP1572962.
JD349101 - Sequence 330125 from Patent EP1572962.
JD404589 - Sequence 385613 from Patent EP1572962.
JD252260 - Sequence 233284 from Patent EP1572962.
JD062506 - Sequence 43530 from Patent EP1572962.
JD133159 - Sequence 114183 from Patent EP1572962.
JD133160 - Sequence 114184 from Patent EP1572962.
JD472973 - Sequence 453997 from Patent EP1572962.
JD121481 - Sequence 102505 from Patent EP1572962.
JD362563 - Sequence 343587 from Patent EP1572962.
JD303690 - Sequence 284714 from Patent EP1572962.
JD053623 - Sequence 34647 from Patent EP1572962.
JD206971 - Sequence 187995 from Patent EP1572962.
JD203114 - Sequence 184138 from Patent EP1572962.
JD561498 - Sequence 542522 from Patent EP1572962.
JD479257 - Sequence 460281 from Patent EP1572962.
LF782137 - JP 2016523980-A/6: MicroRNAs that Silence Tau Expression.
JD124585 - Sequence 105609 from Patent EP1572962.
JD474106 - Sequence 455130 from Patent EP1572962.
JD325143 - Sequence 306167 from Patent EP1572962.
JD253961 - Sequence 234985 from Patent EP1572962.
JD253542 - Sequence 234566 from Patent EP1572962.
JD115342 - Sequence 96366 from Patent EP1572962.
JD358916 - Sequence 339940 from Patent EP1572962.
JD318324 - Sequence 299348 from Patent EP1572962.
JD470208 - Sequence 451232 from Patent EP1572962.
JD234462 - Sequence 215486 from Patent EP1572962.
JD271063 - Sequence 252087 from Patent EP1572962.
JD527883 - Sequence 508907 from Patent EP1572962.
JD097904 - Sequence 78928 from Patent EP1572962.
JD257206 - Sequence 238230 from Patent EP1572962.
JD109898 - Sequence 90922 from Patent EP1572962.
JD502041 - Sequence 483065 from Patent EP1572962.
JD528658 - Sequence 509682 from Patent EP1572962.
JD220854 - Sequence 201878 from Patent EP1572962.
JD467805 - Sequence 448829 from Patent EP1572962.
JD429491 - Sequence 410515 from Patent EP1572962.
LF782139 - JP 2016523980-A/8: MicroRNAs that Silence Tau Expression.
JD316208 - Sequence 297232 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04010 - MAPK signaling pathway
hsa05010 - Alzheimer's disease

Reactome (by CSHL, EBI, and GO)

Protein P10636 (Reactome details) participates in the following event(s):

R-HSA-201629 Caspase-mediated cleavage of Tau
R-HSA-264870 Caspase-mediated cleavage of cytoskeletal proteins
R-HSA-111465 Apoptotic cleavage of cellular proteins
R-HSA-75153 Apoptotic execution phase
R-HSA-109581 Apoptosis
R-HSA-5357801 Programmed Cell Death

-  Other Names for This Gene
  Alternate Gene Symbols: MAPTL, MTBT1, NM_001203251, NP_001190180, P10636-4, TAU
UCSC ID: uc021tyw.1
RefSeq Accession: NM_001203251
Protein: P10636-4, splice isoform of P10636

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001203251.1
exon count: 10CDS single in 3' UTR: no RNA size: 5631
ORF size: 1146CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2285.00frame shift in genome: no % Coverage: 99.98
has start codon: yes stop codon in genome: no # of Alignments: 2
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.