MAPT Gene
protein-coding GIFtS : 72
GCID: GC17 P043971
microtubule-associated protein tau (Previous symbols: DDPAC, MAPTL )
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Aliasesfor MAPT gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Microtubule-Associated Protein Tau 1 2 PPND1 2 MTBT11 2 3 5 Neurofibrillary Tangle Protein2 3 MAPTL1 2 3 Paired Helical Filament-Tau2 3 TAU1 2 3 PHF-Tau1 DDPAC1 2 5 FLJ314241 MSTD1 2 5 MGC1385491 FTDP-171 2 Tau1 MTBT21 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 GC17P039635
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Summariesfor MAPT gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
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, Jul 2008) 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/MAPT 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 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000017.10 NC_018928.1 NT_010783.15 NT_167251.1 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the MAPT gene promoter: CREB ATF-2 Other transcription factors Search SABiosciences Chromatin IP Primers for MAPT Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat 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 information about chromosome 17 GeneLoc Exon Structure
GeneLoc location for GC17P043971: view genomic region
(about GC identifiers )
Start:
43,971,748 bp from pter
End:
44,105,700 bp from pter
Size:
133,953 bases
Orientation:
plus strand
1 alternative location : Chr 17-,ALT_REF_LOCI_9 44,071,113-44,280,402
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Proteinsfor MAPT gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: TAU_HUMAN, P10636 (See
protein sequence )Recommended Name: Microtubule-associated protein tau Size : 758 amino acids; 78928 Da
Subunit : Interacts with PSMC2 through SQSTM1 (By similarity). Interacts with SQSTM1 when polyubiquitinated. Interactswith FKBP4 (By similarity). Binds to CSNK1D. Interacts with SGK1
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/MAPT is expressed in an adult-specific manner and is not found in fetalbrain, whereas three-repeat (type I) TAU/MAPT is found in both adult and fetal brain
4 PDB 3D structures from and Proteopedia for MAPT :1I8H (3D)
  3FQP (3D)
  3OVL (3D)
  4GLR (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 (No experimental confirmation available)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 (PDPK1: CDK1, CDK5, GSK3, MAPK) (only 2-3 sites per protein in interphase, seven-fold increase in mitosis, and in the form associated with paired helical filaments (PHF-tau)), and at serine residues in K-X-G-S motifs by MAP/microtubule affinity-regulating kinase (MARK1 or MARK2), causing detachment from microtubules, and their disassembly. Phosphorylation decreases with age. Phosphorylation within tau/MAP's repeat domain or in flanking regions seems to reduce tAU/MAP's interaction with, respectively, microtubules or plasma membrane components. Phosphorylation on Ser-610, Ser-622, Ser-641 and Ser-673 in several isoforms during mitosis. Phosphorylation at Ser-548 by GSK3B reduces ability to bind and stabilize microtubules. Phosphorylation at Ser-579 by BRSK1 and BRSK2 in neurons affects ability to bind microtubules and plays a role in neuron polarization. Phosphorylated at Ser-554, Ser-579, Ser-602, Ser-606 and Ser-669 by PHK. Phosphorylation at Ser-214 by SGK1 mediates microtubule depolymerization and neurite formation in hippocampal neurons. There is a reciprocal down-regulation of phosphorylation and O-GlcNAcylation. Phosphorylation on Ser-717 completely abolishes the O-GlcNAcylation on this site, while phosphorylation on Ser-713 and Ser-721 reduces glycosylation by a factor of 2 and 4 respectively. Phosphorylation on Ser-721 is reduced by about 41.5% by GlcNAcylation on Ser-7171
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
O-glycosylated. O-GlcNAcylation content is around 8.2%. There is reciprocal down-regulation of phosphorylation and O-GlcNAcylation. Phosphorylation on Ser-717 completely abolishes the O-GlcNAcylation on this site, while phosphorylation on Ser-713 and Ser-721 reduces O-GlcNAcylation by a factor of 2 and 4 respectively. O-GlcNAcylation on Ser-717 decreases the phosphorylation on Ser-721 by about 41.5%1
Glycation of PHF-tau, but not normal brain TAU/MAPT. 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 modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_P10636 MAPT Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins (8 alternative transcripts):
NP_001116538.2 NP_001116539.1 NP_001190180.1 NP_001190181.1 NP_005901.2 NP_058518.1 NP_058519.3 NP_058525.1 ENSEMBL proteins: ENSP00000460048 ENSP00000334886 ENSP00000408975 ENSP00000413056 ENSP00000410838 ENSP00000458742 ENSP00000460965 ENSP00000389250 ENSP00000458621 ENSP00000340820 ENSP00000262410 ENSP00000303214 ENSP00000340438 ENSP00000443028 ENSP00000302706 Reactome Protein details: P10636 Human Recombinant Protein Products: Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11 ): About this table
MAPT for ontologies About GeneDecksing MAPT Antibody Products: Assay Products 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 2 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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Functionfor MAPT gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: 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/MAPT 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 Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for MAPT (see all 9 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for MAPT (see all 7 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 8 ): MAPT (NM_001203251 ) Sino Biological Human cDNA Clone for MAPT DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MAPT Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat MAPT
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAPT
Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9 ): About this table
MAPT for ontologies About GeneDecksing Animal Models: Mouse knock-outs for MAPT: Mapt tm1Aha Mapt tm1Noh Mapt tm1Hnd 15/16 MGI mutant phenotypes (inferred from 19 alleles ) (MGI details for Mapt) (see all 16 ):
MAPT for phenotypes About GeneDecksing
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Pathways & Interactionsfor MAPT gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways  - 5/19 super-pathways (see all 19 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Apoptotic cleavage of cellular proteins 2 Cytoskeleton remodeling_Reverse signaling by ephrin B 3 Cytoskeleton remodeling Slit-Robo signaling 4 Neurophysiological process Receptor-mediated axon growth repulsion 5 Integrated Pancreatic Cancer Pathway
Pathway sources See GeneCards unified pathways Show all pathways 4 EMD Millipore Pathways for MAPT 5 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for MAPT 1
Cell Signaling Technology (CST) Pathway for MAPT 3 GeneGo (Thomson Reuters) Pathways for MAPT 5/7 BioSystems Pathways for MAPT (see all 7 ) 4
Reactome Pathways for MAPT 1 PharmGKB Pathway for MAPT 2
Kegg Pathways (Kegg details for MAPT) :
MAPT for pathways About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MAPT STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)5/86 Interacting proteins for MAPT (P10636 1 , 2 , 3 ENSP00000340820 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 86 )Interactant Interaction Details GeneCard External ID(s) YWHAZ P63104 2 , 3 , ENSP00000309503 4 MINT-8009131 MINT-7233346 MINT-7233334 MINT-7233310 MINT-8009145 MINT-7233285 MINT-8009138 MINT-8008750 MINT-7233372 MINT-7233358 MINT-7233384 MINT-7233323 MINT-7233297 I2D:
score=4 STRING: ENSP00000309503 GSK3B P49841 2 , 3 , ENSP00000324806 4 MINT-3974171 MINT-8211409 MINT-8211397 MINT-8211467 MINT-8210275 MINT-3974216 MINT-8211419 I2D:
score=4 STRING: ENSP00000324806 FYN P06241 2 , 3 , ENSP00000357656 4 MINT-7212444 MINT-7212427 MINT-8187055 I2D:
score=4 STRING: ENSP00000357656 AATF Q9NY61 2 , 3 , ENSP00000225402 4 MINT-49642 MINT-49641 I2D:
score=4 STRING: ENSP00000225402 RPS6KB1 P23443 2 , 3 , ENSP00000225577 4 MINT-74872 MINT-74874 I2D:
score=1 STRING: ENSP00000225577
About this table Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15 ): About this table
MAPT for ontologies About GeneDecksing
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Drugs & Compoundsfor MAPT gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
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 ) About this table
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)
Search CenterWatch for drugs/clinical trials and news about MAPT / TAU
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Transcriptsfor MAPT gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for MAPT gene (8 alternative transcripts): NM_001123066.3 NM_001123067.3 NM_001203251.1 NM_001203252.1 NM_005910.5 NM_016834.4 NM_016835.4 NM_016841.4 Unigene Cluster for MAPT:
Microtubule-associated protein tau Hs.101174 [show with all ESTs ] Unigene Representative Sequence: NM_001123066 18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19 ): ENST00000571311 ENST00000570299 ENST00000334239 ENST00000446361 ENST00000420682 ENST00000415613 ENST00000571987 ENST00000574436 ENST00000431008 ENST00000576518 ENST00000572440 ENST00000576238 (uc021tyx.1 ) ENST00000577017 ENST00000344290 (uc010dau.3 )ENST00000262410 (uc002ijr.4 ) ENST00000351559 (uc002ijs.4 ) ENST00000340799 (uc002ijx.4 uc002ijt.4 )ENST00000535772 (uc021tyv.1 uc021tyw.1 uc002iju.4 ) Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for MAPT (see all 9 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for MAPT (see all 7 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 8 ): MAPT (NM_001203251 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MAPT Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat MAPT
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 J03778.1 X14474.1
19 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.95166983 DT.95193501 DT.91775667 DT.95176899 24/343 AceView cDNA sequences (see all 343 ):
AA323128 AI276210 AI365507 AL353965 AI273459 BU902265 AI650263 T17291 AA323145 AI985186 AI055848 CF455771 BM714407 F03259 BX420493 BM678652 BM668364 Z38934 CR623207 BG911100 BI117966 BG056178 BM722070 X14474 GeneLoc Exon Structure 5/7 Alternative Splicing Database (ASD) splice patterns (SP) for MAPT (see all 7 ) About this scheme 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 :         -   -   -   -   -     -     -     -            
ECgene alternative splicing isoforms for MAPT
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Expression for MAPT gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,
PCR Arrays from
SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section MAPT expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: AAATCATCTT
About this image MAPT expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See MAPT Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for MAPT SOURCE GeneReport for Unigene cluster: Hs.101174 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 : Parkinson's Disease in human mouse rat Cytoskeleton Regulators in human mouse rat Alzheimer's Disease in human mouse rat
Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for MAPTBrowse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse / rat MAPT QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat MAPT QIAGEN QuantiFast Probe-based Assays in human , mouse , rat MAPT In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAPT
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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
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of animals.
Orthologs for MAPT gene from 5/18 species (see all 18 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
chicken (Gallus gallus)
Aves
MAPT1
microtubule-associated protein tau
78.85(n) 85.94(a)
 
426737 NM_001199193.1 NP_001186122.1
lizard (Anolis carolinensis)
Reptilia
MAPT6
--
76(a)
1 ↔ 1
6(66988964-67038336)
African clawed frog (Xenopus laevis)
Amphibia
AY032848.12
--
77.54(n)
 
AY032848.1
zebrafish (Danio rerio)
Actinopterygii
BI981282.12
--
74.26(n)
 
BI981282.1
fruit fly (Drosophila melanogaster)
Insecta
tau6
tau
24(a)
1 → many
3R(23466365-23482718)
ENSEMBL Gene Tree for MAPT (if available)TreeFam Gene Tree for MAPT (if available)
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Paralogsfor MAPT gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for MAPT gene MAP4 2 MAP2 2 3 SIMAP similar genes for MAPT using alignment to 7 protein entries: TAU_HUMAN (see all proteins ):4R-MAP2 DKFZp547H1810 MAP4
MAPT for paralogs About GeneDecksing
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Genomic Variantsfor MAPT gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 17 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for MAPT (43971748 - 44105700 bp)
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 Human Gene Mutation Database (HGMD) : MAPT Locus Specific Mutation Databases (LSDB): MAPT SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing MAPT
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Disorders
/ Diseasesfor MAPT gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
MAPT for disorders About GeneDecksing OMIM gene information: 157140 OMIM disorders : 600274 172700 601104 260540 168600 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). O-GlcNAcylation is greatly reduced in Alzheimer disease brain cerebral cortex leading to an increase in TAU/MAPT phosphorylations Defects in MAPT are a cause of frontotemporal dementia (FTD) [MIM:600274]; 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 Defects in MAPT are a cause of Pick disease of the brain (PIDB) [MIM:172700]. It is a rare form of dementia pathologically defined by severe atrophy, neuronal loss and gliosis. It is characterized by the occurrence of tau-positive inclusions, swollen neurons (Pick cells) and argentophilic neuronal inclusions known as Pick bodies that disproportionally affect the frontal and temporal cortical regions. Clinical features include aphasia, apraxia, confusion, anomia, memory loss and personality deterioration 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]; 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 Defects in MAPT are a cause of Parkinson-dementia syndrome (PARDE) [MIM:260540]. A syndrome characterized by parkinsonism tremor, rigidity, dementia, ophthalmoparesis and pyramidal signs. Neurofibrillary degeneration occurs in the hippocampus, basal ganglia and brainstem nuclei 20/115 diseases for MAPT (see all 115 ): About MalaCards supranuclear palsy progressive supranuclear palsy frontotemporal dementia pick's disease dementia frontotemporal dementia, ubiquitin-positive alzheimer's disease niemann-pick disease subacute sclerosing panencephalitis basal ganglia calcification familial idiopathic basal ganglia calcification mapt-related disorders cerebral amyloid angiopathy spermatic cord torsion tauopathy and respiratory failure (3) 11 normal pressure hydrocephalus relapsing-remitting multiple sclerosis frontotemporal dementia with parkinsonism-17 dementia, frontotemporal, with or without parkinsonism semantic dementia 10 diseases from the University of Copenhagen DISEASES database for MAPT :Frontotemporal dementia Alzheimer's disease Progressive supranuclear palsy Pick's disease Aphasia Parkinson's disease Lewy body dementia Toxic encephalopathy Amyotrophic lateral sclerosis Apraxia 10/93 Novoseek disease relationships for MAPT gene (see all 93 ) About this table
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 )
GeneTests: MAPT Frontotemporal Dementia with Parkinsonism-17 Genetic Association Database (GAD): MAPT Human Genome Epidemiology (HuGE) Navigator: MAPT (139 documents) Export disorders for MAPT gene to outside databases
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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 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for MAPT gene, integrated from 9 sources (see all 2367 ): (articles sorted by number of sources associating them with MAPT) Utopia : connect your pdf to the dynamic world of online information
Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene. (PubMed id 11220749) 1 , 2 , 4, 9 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, 9 Hutton M.... Heutink P. (1998) 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 , 9 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, 9 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, 9 Poorkaj P....Bird T.D. (2001) Pick's disease is associated with mutations in the tau gene. (PubMed id 11117542) 1 , 2 , 9 Pickering-Brown S.... Hutton M. (2000) Mutational analysis of the tau gene in progressive supranuclear palsy. (PubMed id 10534245) 1 , 2 , 9 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 , 9 Illenberger S.... Mandelkow E. (1998) Interaction of alpha-synuclein and tau genotypes in Parkinson's disease. (PubMed id 15732111) 1 , 4, 9 Mamah C.E....Maraganore D.M. (2005)
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External Searches for MAPT gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing MAPT gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing MAPT gene
(According to HUGE )
About This Section --
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Specialized Databases showing MAPT gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description
PharmGKB entry for MAPT Pharmacogenomics, SNPs, Pathways 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://web.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 from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
OriGene Antibodies for MAPT OriGene shRNA RFP for MAPT OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for MAPT OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for MAPT OriGene Protein Over-expression Lysate for MAPT Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for MAPT OriGene 3'-UTR Clone for MAPT OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for MAPT OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for MAPT Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs OriGene Purified Protein for MAPT OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for MAPT OriGene Custom Protein Services for MAPT OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MAPT QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing MAPT QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat MAPT QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat MAPT QIAGEN QuantiFast Probe-based Assays in human , mouse , rat MAPT QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat MAPT
Antibodies & Assays for MAPT   (tau iso8)
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MAPT Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAPT
ThermoFisher Antibody for MAPT
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat MAPT
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