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Aliases & Descriptionsfor MAPT gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section Aliases & Descriptions microtubule-associated protein tau1 2 PPND1 2 MTBT11 2 3 5 Neurofibrillary tangle protein2 3 TAU1 2 3 Paired helical filament-tau2 3 MSTD1 2 5 MAPTL2 3 MTBT21 2 PHF-tau2 3 FTDP-171 2 DDPAC2 5 FLJ314241 2 tau1 MGC1385491 2 G protein beta1/gamma2 subunit-interacting factor 12
Export aliases for MAPT gene to outside databases Previous GC identifers: GC17P043566 GC17P046217 GC17P043982 GC17P044447 GC17P041327
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Summariesfor MAPT gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for MAPT : 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) UniProtKB/Swiss-Prot: TAU_HUMAN, P10636 Function : Promotes microtubule assembly and stability, and might be involved in the establishment and maintenance ofneuronal polarity. The C-terminus binds axonal microtubules while the N-terminus binds neural plasma membrane components, suggesting that tau functions as a linker protein between both. Axonal polarity is predetermined by tau localization (in the neuronal cell) in the domain of the cell body defined by the centrosome. The short isoforms allow plasticity of the cytoskeleton whereas the longer isoforms may preferentially play a role in its stabilization Gene Wiki entry for MAPT (Tau protein)
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Genomic Viewsfor MAPT gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 60) ,
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences )About This Section Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the MAPT gene promoter: CREB STAT1 STAT1beta STAT1alpha deltaCREB HNF-4alpha2 PPAR-gamma2 PPAR-gamma1 RFX1 ATF-2 Other transcription factors Search SABiosciences Chromatin IP Primers for MAPT Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for MAPT
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 17q21.1 Ensembl cytogenetic band: 17q21.31 HGNC cytogenetic band: 17q21 MAPT Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 17 GeneLoc Exon Structure
GeneLoc location for GC17P039635: view genomic region
(about GC identifiers )
Start:
39,635,406 bp from pter
End:
39,768,427 bp from pter
Size:
133,022 bases
Orientation:
plus strand
1 alternative location : Chr 17-,ALT_REF_LOCI_9 44,071,113-44,212,878
RefSeq DNA sequence: NC_000017.10 NT_010783.15 NT_167251.1
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Proteinsfor MAPT gene
(According to
1 UniProtKB ,
neXtProt ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological , and/or
ProSpec ,
Biochemical Assays by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene ,
Antibodies by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals , and/or
Epitomics )
About This Section UniProtKB/Swiss-Prot: TAU_HUMAN, P10636 (See
protein sequence )Recommended Name: Microtubule-associated protein tau Size : 758 amino acids; 78878 Da
Subunit : Interacts with PSMC2 through SQSTM1 (By similarity). Interacts with SQSTM1 when polyubiquitinated. Interactswith FKBP4 (By similarity)
Subcellular location : Cytoplasm, cytosol. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm,cytoskeleton. Cell projection, axon. Note=Mostly found in the axons of neurons, in the cytosol and in association with plasma membrane components
Developmental stage : Four-repeat (type II) tau is expressed in an adult-specific manner and is not found in fetalbrain, whereas three-repeat (type I) tau is found in both adult and fetal brain
PDB structure from and Proteopedia : 1I8H (3D)
 3FQP (3D)
 
Secondary accessions : P18518 Q14799 Q15549 Q15550 Q15551 Q1RMF6 Q53YB1 Q5CZI7 Q5XWF0 Q6QT54 Q9UDJ3Q9UMH0 Q9UQ96 Alternative splicing : 9 isoforms : P10636-1 P10636-2 P10636-3 P10636-4 P10636-5 P10636-6 P10636-7 P10636-8 P10636-9 (Additional isoforms seem to exist. Isoforms differ from each other by the presence or absence of up to 5 of the 15 exons. One of these optional exons contains the additional tau/MAP repeat)Explore the universe of human proteins at neXtProt for MAPT: NX_P10636 Post-translational modifications:
Phosphorylation at serine and threonine residues in S-P or T-P motifs by proline-directed protein kinases (PDPK: CDK1, CDK5, GSK-3, MAPK) (only 2-3 sites per protein in interphase, seven-fold increase in mitosis, and in PHF-tau), and at serine residues in K-X-G-S motifs by MAP/microtubule affinity-regulating kinase (MARK) in Alzheimer diseased brains. Phosphorylation decreases with age. Phosphorylation within tau's repeat domain or in flanking regions seems to reduce tau's interaction with, respectively, microtubules or plasma membrane components. Phosphorylation on Ser-610, Ser-622, Ser-641 and Ser-673 in several isoforms during mitosis1
Polyubiquitinated. Requires functional TRAF6 and may provoke SQSTM1-dependent degradation by the proteasome (By similarity). PHF-tau can be modified by three different forms of polyubiquitination. 'Lys-48'-linked polyubiquitination is the major form, 'Lys-6'-linked and 'Lys-11'-linked polyubiquitination also occur1
Glycation of PHF-tau, but not normal brain tau. Glycation is a non-enzymatic post-translational modification that involves a covalent linkage between a sugar and an amino group of a protein molecule forming ketoamine. Subsequent oxidation, fragmentation and/or cross-linking of ketoamine leads to the production of advanced glycation endproducts (AGES). Glycation may play a role in stabilizing PHF aggregation leading to tangle formation in AD1
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (6 alternative transcripts):
NP_001116538.2 NP_001116539.1 NP_005901.2 NP_058518.1 NP_058519.3 NP_058525.1 ENSEMBL proteins: ENSP00000340820 ENSP00000303214 ENSP00000346287 ENSP00000262410 ENSP00000340438 ENSP00000302706 ENSP00000334886 ENSP00000413056 Human Recombinant Proteins 5/11 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 11 ):
About this table
MAPT for ontologies About GeneDecksing Antibodies for MAPT: Assays for MAPT:
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Protein
Domains/ Familiesfor MAPT gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
MAPT for domains About GeneDecksing 3 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry P10636 ProtoNet protein and cluster: P10636
2 Blocks protein families : IPB001084 Tubulin-binding Tau protein IPB002955 Tau protein signature UniProtKB/Swiss-Prot: TAU_HUMAN, P10636 Domain : The tau/MAP repeat binds to tubulin. Type I isoforms contain 3 repeats while type II isoforms contain 4 repeatsSimilarity : Contains 4 Tau/MAP repeats
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Gene Functionfor MAPT gene
(According to UniProtKB ,
IUBMB ,and/or
Genatlas , Animal models from MGI Dec 24 2010,
shRNA from
OriGene ,
Sigma-Aldrich ,
RNAi from
Millipore ,
siRNAs from
Sigma-Aldrich ,
OriGene ,
Qiagen ,
Super-pooled esiRNAs from Sigma-Aldrich ,
microRNA from Sigma-Aldrich ,
Qiagen ,
SABiosciences ,
Clones from Millipore ,
Sigma-Aldrich ,
OriGene ,
GenScript ,
Sino Biological ,
Cell Lines from GenScript ,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene .)
About This Section UniProtKB/Swiss-Prot: TAU_HUMAN, P10636 Function : Promotes microtubule assembly and stability, and might be involved in the establishment and maintenance ofneuronal polarity. The C-terminus binds axonal microtubules while the N-terminus binds neural plasma membrane components, suggesting that tau functions as a linker protein between both. Axonal polarity is predetermined by tau localization (in the neuronal cell) in the domain of the cell body defined by the centrosome. The short isoforms allow plasticity of the cytoskeleton whereas the longer isoforms may preferentially play a role in its stabilization
Genatlas biochemistry entry for MAPT :microtubule (beta) associated protein tau 1,primary component of paired helical filaments with six alternatively spliced forms in normal adult brain,regulating the transport of vesicles or organelles along microtubules,phosphorylated by CDK5 and other kinases with decrease of affinity for microtubules,forming tangles of paired helical filaments (PHF) consisting of hyperphosphorylated tau protein observed in Alzheimer disease (triplet PHF-tau),overexpressed in extraskeletal myxoid chondrosarcoma and chordoma 5/9 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 9 ):
About this table
MAPT for ontologies About GeneDecksing Animal Models: 12 MGI mutant phenotypes (inferred from 16 alleles ) (MGI details for Mapt) :
MAPT for phenotypes About GeneDecksing
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Pathways & Interactionsfor MAPT gene
(Pathways according to
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
PCR Arrays from
SABiosciences ,
Proteins Network according to
SABiosciences ,
Sigma-Aldrich ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene) .
About This Section
MAPT for pathways About GeneDecksing 4 Millipore Pathways for MAPT 5/6 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for MAPT (see all 6 )1
Cell Signaling Technology (CST) Pathway for MAPT 2 Kegg Pathways (Kegg details for MAPT) : SABiosciences Pathway-Focused PCR Arrays including MAPT : PAHS-057A PAHS-088A Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for MAPT SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MAPT 5/56 Interacting proteins for MAPT (ENSP00000340820 3 P10636 1 , 2 ) via UniProtKB, MINT, and/or STRING (see all 56 )About this table 5/10 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 10 ):
GO ID Qualified GO term Evidence PubMed IDs GO:0000226 microtubule cytoskeleton organization
IDA 1057175 GO:0006915 apoptosis
TAS -- GO:0006921 cellular component disassembly involved in apoptosis
TAS -- GO:0007026 negative regulation of microtubule depolymerization
IEA -- GO:0021987 cerebral cortex development
IMP --
About this table
MAPT for ontologies About GeneDecksing
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Drugs & Compoundsfor MAPT gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
About This Section
MAPT for compounds About GeneDecksing Browse Tocris compounds for MAPT 10/103 Novoseek chemical compound relationships for MAPT gene (see all 103 )
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
glycogen
75.5
236
8809831 (5), 15075227 (4), 16951581 (3), 9666118 (3) (see all 99 )
ammonium polyphosphate
65.8
7
8797796 (3), 16877359 (1), 9839715 (1)
thioflavine s
64.9
10
1759562 (2), 10446806 (1), 15814784 (1), 20448485 (1) (see all 7 )
okadaic acid
61.2
87
8494335 (4), 7723735 (4), 8414191 (3), 7693894 (3) (see all 39 )
thioflavin
60.7
6
19266322 (2), 17082178 (1), 14975751 (1)
map4
59.4
9
15642108 (2), 1905296 (1), 7854050 (1), 9144194 (1) (see all 8 )
threonine
49.9
32
15913839 (2), 17362433 (1), 9736660 (1), 11078890 (1) (see all 22 )
silver
47.4
29
9708963 (2), 10768809 (2), 7692696 (1), 7521944 (1) (see all 21 )
serine
44.9
49
8486651 (3), 9079670 (2), 9199504 (2), 15913839 (2) (see all 33 )
maltolate
39.4
1
9401741 (1)
About this table
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Transcriptsfor MAPT gene (GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
Millipore ,
siRNAs from
Sigma-Aldrich ,
OriGene ,
Qiagen ,
Super-pooled esiRNAs from Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
microRNA from Sigma-Aldrich ,
Qiagen ,
SABiosciences ,
Tagged/untagged cDNA clones from
OriGene ,
Sigma-Aldrich ,
GenScript ,
Primers from
OriGene and/or
SABiosciences )About This Section REFSEQ mRNAs for MAPT gene (6 alternative transcripts): NM_001123066.3 NM_001123067.3 NM_005910.5 NM_016834.4 NM_016835.4 NM_016841.4
Additional cDNA sequence: AB073354.1 AF456477.1 AK055986.1 AK095802.1 AK299658.1 AK299704.1 AY526356.1 AY730549.1 BC000558.2 BC032572.1 BC040444.1 BC061892.1 BC071830.1 BC094805.1 BC098281.1 BC099721.1 BC101936.1 BC114504.1 BC114948.1 BT006772.1 CR599561.1 CR623207.1 J03778.1 X14474.1
20 DOTS entries : DT.100836823 DT.415460 DT.97813963 DT.100836827 DT.100000370 DT.100836820 DT.91775673 DT.100836816
DT.100836818 DT.75182379 DT.91775685 DT.100836817 DT.100836831 DT.95166690 DT.95166953 DT.95193501 DT.75102946 DT.91775667 DT.95166983 DT.95176899 24/343 AceView cDNA sequences (see all 343 ):
BM668364 AA687444 CF455771 BU902265 BU500730 AW250075 F21582 BM714680 AI650263 BX420493 AI650254 AA338920 AA223656 AI363314 F07063 AA323145 AA323128 BM927039 BM714407 BC040444 AI365507 AI276210 BC032572 M25298
highest scoring ESTs for MAPT :J03778 X14474 AA001000 AA001560 AA016081 AA017000 AA018628 AA018724 AA019126 AA019127 Unigene Cluster for MAPT:
Microtubule-associated protein tau Hs.101174 [show with all ESTs ] Unigene Representative Sequence: NM_001123066 GeneLoc Exon Structure 5/7 Alternative Splicing Database (ASD) splice patterns (SP) for MAPT (see all 7 ) 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 :         -   -   -   -   -     -     -     -            
About this scheme ECgene alternative splicing isoforms for MAPT 8 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000344290 (uc010dau.2 uc002ijr.3 uc002ijs.3 uc002ijx.3 uc002ijt.3 uc002iju.3 uc002ijv.3 )ENST00000351559 ENST00000354326 ENST00000262410 ENST00000340799 ENST00000347967 ENST00000334239 ENST00000420682
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Expression for MAPT gene
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Primers from
OriGene and/or
SABiosciences
)
About This Section MAPT expression in normal and diseased human tissues 1 / 2 / 3
18 probe-sets matching MAPT gene
Affymetrix probe-set
Array
GeneAnnot data
GeneNote data
GeneTide data
# genes
Sensitivity
Specificity
Correlation
Length
Gb_Accession
Consensus
Uniqueness
Score
Rank
80210_at2 , 3
U95-E
1
1.00
1.00
0.90
1.81
W23141
0.60
1.00
0.82
1
113_i_at2 , 3
U95-A
1
1.00
1.00
0.95
0.60
X14474
1.00
0.90
0.95
1
310_s_at2 , 3
U95-A
1
1.00
1.00
0.95
0.56
J03778
1.00
0.90
0.95
1
114_r_at2 , 3
U95-A
1
1.00
1.00
-0.05
0.12
X14474
1.00
0.90
0.95
1
38629_at2 , 3
U95-A
1
0.94
1.00
0.73
1.30
J03778
1.00
0.90
0.95
1
331_at2 , 3
U95-A
1
0.75
1.00
0.57
1.00
HG2566-HT4867
0.20
1.00
0.72
1
203929_s_at2 , 3
U133-A
1
1.00
1.00
--
--
AI056359
0.80
1.00
0.91
1
225379_at2 , 3
U133-B
1
1.00
1.00
--
--
AA199717
0.80
1.00
0.91
1
206401_s_at2 , 3
U133-A
1
1.00
1.00
--
--
J03778
1.00
0.90
0.95
1
203928_x_at2 , 3
U133-A
1
1.00
1.00
--
--
AI870749
0.80
1.00
0.91
1
203930_s_at2 , 3
U133-A
1
0.91
1.00
--
--
NM_016835
0.60
1.00
0.82
1
233117_at*2 , 3
U133-B
1
0.46
1.00
--
--
AU158686
0.40
1.00
0.76
1
203929_s_at2
U133Plus2
1
1.00
1.00
--
--
--
--
--
--
--
225379_at2
U133Plus2
1
1.00
1.00
--
--
--
--
--
--
--
206401_s_at2
U133Plus2
1
1.00
1.00
--
--
--
--
--
--
--
203928_x_at2
U133Plus2
1
1.00
1.00
--
--
--
--
--
--
--
203930_s_at2
U133Plus2
1
0.91
1.00
--
--
--
--
--
--
--
233117_at*2
U133Plus2
1
0.46
1.00
--
--
--
--
--
--
--
About this table
MAPT for expression About GeneDecksing Data from
Genenote  
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: AAATCATCTT SOURCE GeneReport for Unigene cluster: Hs.101174 Expression variation in blood from EXPOLDB for MAPT
UniProtKB/Swiss-Prot: TAU_HUMAN, P10636 Tissue specificity : Expressed in neurons. Isoform PNS-tau is expressed in the peripheral nervous system while theothers are expressed in the central nervous system
SABiosciences Expression via Pathway-Focused PCR Arrays including MAPT : PAHS-057A PAHS-088A
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Orthologsfor MAPT gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
About This Section
Orthologs for MAPT gene from 5/7 species (see all 7 )
About this table Species with no ortholog for MAPT ENSEMBL Gene Tree for MAPT (if available)
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Paralogsfor MAPT gene (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section Paralogs for MAPT gene MAP4 2 MAP2 2
MAPT for paralogs About GeneDecksing
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Genomic Variantsfor MAPT gene (SNPs according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Resequencing Primers from Qiagen )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Chr 17 pos Sequence Recs AA Chg Type More Recs Allele freq Pop Total sample More
About this table HapMap Linkage Disequilibrium images for MAPT (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 12 variations for MAPT 9 CNVs : 2226 34480 34570 8850 4038 8848 2225 0801 8851 2 Indels : 60234 40184 1 Inversion : 37194
QIAGEN SeqTarget long-range PCR primers for resequencing MAPT
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Disorders & Mutationsfor MAPT gene
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
LSDB, HGMD, GAD ,
HuGE Navigator ,
and/or TGDB .)
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MAPT for disorders About GeneDecksing
OMIM: 157140 UniProtKB/Swiss-Prot: TAU_HUMAN, P10636
Note=In Alzheimer disease, the neuronal cytoskeleton in the brain is progressively disrupted and replaced by tangles of paired helical filaments (PHF) and straight filaments, mainly composed of hyperphosphorylated forms of TAU (PHF-TAU or AD P-TAU) Defects in MAPT are a cause of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP17) [MIM:600274, 172700]; also called frontotemporal dementia (FTD), pallido-ponto-nigral degeneration (PPND) or historically termed Pick complex. This form of frontotemporal dementia is characterized by presenile dementia with behavioral changes, deterioration of cognitive capacities and loss of memory. In some cases, parkinsonian symptoms are prominent. Neuropathological changes include frontotemporal atrophy often associated with atrophy of the basal ganglia, substantia nigra, amygdala. In most cases, protein tau deposits are found in glial cells and/or neurons Note=Defects in MAPT are a cause of corticobasal degeneration (CBD). It is marked by extrapyramidal signs and apraxia and can be associated with memory loss. Neuropathologic features may overlap Alzheimer disease, progressive supranuclear palsy, and Parkinson disease Defects in MAPT are a cause of progressive supranuclear palsy type 1 (PSNP1) [MIM:601104, 260540]; also abbreviated as PSP and also known as Steele-Richardson-Olszewski syndrome. PSNP1 is characterized by akinetic-rigid syndrome, supranuclear gaze palsy, pyramidal tract dysfunction, pseudobulbar signs and cognitive capacities deterioration. Neurofibrillary tangles and gliosis but no amyloid plaques are found in diseased brains. Most cases appear to be sporadic, with a significant association with a common haplotype including the MAPT gene and the flanking regions. Familial cases show an autosomal dominant pattern of transmission with incomplete penetrance; genetic analysis of a few cases showed the occurrence of tau mutations, including a deletion of Asn-613
10/93 Novoseek disease relationships for MAPT gene (see all 93 )
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
tauopathies
97.7
677
11810404 (5), 15814784 (5), 18346207 (5), 12435607 (5) (see all 99 )
paired helical filament
97.6
517
18783251 (3), 1639844 (3), 9062894 (3), 7694533 (3) (see all 99 )
neurofibrillary tangles
97.1
610
11932941 (4), 15056457 (3), 9686275 (3), 11786218 (3) (see all 99 )
frontotemporal dementia
96
581
18591058 (4), 15376481 (4), 11585254 (3), 10436346 (3) (see all 99 )
alzheimers disease
94.8
1534
17168644 (5), 7838376 (5), 7830071 (5), 8506352 (4) (see all 99 )
supranuclear palsy progressive
93.7
219
10209184 (4), 12151839 (3), 10534245 (3), 9781517 (2) (see all 99 )
picks disease
92
143
8960316 (5), 8928611 (4), 12368187 (4), 11117542 (3) (see all 76 )
neuropil threads
90.5
48
1904481 (2), 16106214 (2), 8396836 (1), 7521944 (1) (see all 34 )
senile plaques
89.8
149
15977985 (3), 15658002 (3), 1652752 (2), 7680597 (1) (see all 99 )
neurodegenerative diseases
89.8
450
11578782 (4), 10320789 (4), 15056452 (4), 15495240 (3) (see all 99 )
About this table 1 PharmGKB disease relationship for MAPT gene About this table GeneTests: MAPT Frontotemporal Dementia with Parkinsonism-17 Locus Specific Mutation Databases (LSDB): MAPT Human Gene Mutation Database (HGMD) : MAPT Genetic Association Database (GAD): MAPT Human Genome Epidemiology (HuGE) Navigator: MAPT (126 documents) Export disorders and mutations for MAPT gene to outside databases
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Medical Newsfor MAPT gene (Possibly Related Articles in
Doctor's Guide )
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Publicationsfor MAPT gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 UniProtKB/TrEMBL , and/or
7 Novoseek )
About This Section 10/2117 PubMed articles for MAPT gene, integrated from 7 sources (see all 2117 ): (articles sorted by number of sources associating them with MAPT) Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene. (PubMed id 11220749) 1 , 2 , 4, 7 Pastor P.... Oliva R. (2001) Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. (PubMed id 9641683) 1 , 2 , 4, 7 Hutton M.... Heutink P. (1998) Linkage disequilibrium and association of MAPT H1 in Parkinson disease. (PubMed id 15297935) 1 , 4, 5 Skipper L....Farrer M. (2004) Cloning and sequencing of the cDNA encoding a core protein of the paired helical filament of Alzheimer disease: identification as the microtubule-associated protein tau. (PubMed id 3131773) 1 , 2 , 3 Goedert M.... Klug A. (1988) The role of tau (MAPT) in frontotemporal dementia and related tauopathies. (PubMed id 15365985) 1 , 2 , 7 Rademakers R.... van Broeckhoven C. (2004) A polymorphism within intron 11 of the tau gene is not increased in frequency in patients with sporadic Alzheimer's disease, nor does it influence the extent of tau pathology in the brain. (PubMed id 11988340) 1 , 4, 7 Green E.K....Mann D.M. (2002) Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia. (PubMed id 11255441) 1 , 4, 7 Poorkaj P....Bird T.D. (2001) Pick's disease is associated with mutations in the tau gene. (PubMed id 11117542) 1 , 2 , 7 Pickering-Brown S.... Hutton M. (2000) Mutational analysis of the tau gene in progressive supranuclear palsy. (PubMed id 10534245) 1 , 2 , 7 Higgins J.J.... Loveless J.M. (1999) The endogenous and cell cycle-dependent phosphorylation of tau protein in living cells: implications for Alzheimer's disease. (PubMed id 9614189) 1 , 2 , 7 Illenberger S.... Mandelkow E. (1998)
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External Searches for MAPT gene
(in PubMed ,
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Genome Databases showing MAPT gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
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Other Databases showing MAPT gene
(According to HUGE )
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Specialized Databases showing MAPT gene (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description
ATLAS Chromosomes in Cancer entry for MAPT Genetics and Cytogenetics in Oncology and Haematology Alzheimer Research Forum http://www.alzforum.org/res/com/mut/tau/default.asp Protein Spotlight http://www.expasy.org/spotlight/back_issues/sptlt068.shtml GeneReviews http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MAPT Wikipedia http://en.wikipedia.org/wiki/Tau_protein
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About This Section Patent Information for MAPT gene: Search GeneIP for patents involving MAPT GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor MAPT gene (Antibodies, recombinant proteins, and assays by Millipore , Sigma-Aldrich , R&D Systems , Qiagen , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Epitomics , ProSpec , Uscn , Clones available from Millipore , Sigma-Aldrich , OriGene , GenScript , Sino Biological , PCR Arrays from SABiosciences , Drugs and/or compounds by Sigma-Aldrich , Tocris Bioscience , and/or
Enzo Life Sciences )About This Section
Antibodies & Assays for MAPT   (Tau)
Search Tocris compounds for MAPT
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