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MAPT Gene

protein-coding   GIFtS: 74

GC17P039635
microtubule-associated protein tau
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: DDPAC, MAPTL)
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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

External Ids:    HGNC: 68931   Entrez Gene: 41372   Ensembl: ENSG000001868687   UniProtKB: P106363   

Export aliases for MAPT gene to outside databases

Previous GC identifers: GC17P043566 GC17P046217 GC17P043982 GC17P044447 GC17P041327


(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 of
neuronal 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)

(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)
MAPT gene location

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:
Chr17-,ALT_REF_LOCI_9 44,071,113-44,212,878     
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  NT_167251.1  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, 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. Interacts
with 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 fetal
brain, 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 Q9UDJ3
Q9UMH0 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 PhosphoSite2


  • 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 
    Millipore Purified and/or Recombinant MAPT Protein
    Sigma-Aldrich Proteins and AQUA Peptides for MAPT
    Browse R&D Systems for human recombinant proteins
    Enzo Life Sciences proteins for MAPT
    OriGene Purified Proteins (see all 3): MAPT
    OriGene Protein Over-expression Lysate (see all 3): MAPT
    GenScript Custom Purified and Recombinant Proteins Services for MAPT 
    Novus Biologicals Proteins for MAPT
    Novus Biologicals Lysates for MAPT
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    5/11 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 11):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737 cytoplasm IEA--
    GO:0005829 cytosol EXP10899937
    GO:0005856 cytoskeleton IEA--
    GO:0005874 microtubule IEA--
    GO:0005875 microtubule associated complex TAS10747907
    About this table

    MAPT for ontologies           About GeneDecksing



    Antibodies for MAPT: 
    Millipore Mono- and Polyclonal Antibodies for the study of MAPT
    Sigma-Aldrich Antibody Arrays and Antibodies for MAPT
    R&D Systems Antibodies for MAPT (Tau)
    Cell Signaling Technology (CST) Antibodies for MAPT  (Tau)
    OriGene Antibodies (see all 13): MAPT
    GenScript Custom Superior Antibodies Services for MAPT 
    Novus Biologicals Antibodies for MAPT
    Epitomics antibodies for MAPT

    Assays for MAPT: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MAPT 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for MAPT 


    (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:
     IPR002955 Tau_protein
     IPR001084 Tau_tubulin-bd
     IPR015562 Map_tau

    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 repeats
    Similarity: Contains 4 Tau/MAP repeats


    (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 of
    neuronal 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

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for MAPT
    Sigma-Aldrich shRNA Panels and shRNA for MAPT
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 7): MAPT
    OriGene shRNA RFP (see all 7): MAPT
    OriGene basic RS shRNA (see all 7): MAPT
    OriGene siRNA (see all 7): MAPT
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of MAPT 
    miRNA:Sigma-Aldrich microRNA Mimics for MAPT
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of MAPT 
    6 SABiosciences Assays for microRNAs that regulate MAPT:
    hsa-miR-579 hsa-miR-361-3p hsa-miR-657 hsa-miR-532-3p hsa-miR-1308 hsa-miR-1324

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): MAPT
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 6): MAPT
    OriGene untagged cDNA clones in CMV expression vector (see all 7): MAPT
    OriGene 3'-UTR clone (see all 6): MAPT 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for MAPT 
    Sino Biological Human cDNA Clone for MAPT

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for MAPT 

    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):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005200 structural constituent of cytoskeleton TAS2498079
    GO:0005515 protein binding IPI16446437
    GO:0008017 microtubule binding IDA1918161
    GO:0008034 lipoprotein binding ----
    GO:0017124 SH3 domain binding IPI9763511
    About this table

    MAPT for ontologies           About GeneDecksing

    Animal Models: 12 MGI mutant phenotypes (inferred from 16 alleles(MGI details for Mapt):

    behavior/neurologicalcellulargrowth/sizelethality-postnatallife span-post-weaning/aging
    musclenervous systemno phenotypic analysisnormalother
    skin/coat/nailsvision/eye

    MAPT for phenotypes           About GeneDecksing


    (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 1UniProtKB, 2MINT, and/or 3STRING, 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
        Neurophysiological process Receptor-mediated axon growth repulsion
    Cytoskeleton remodeling Slit-Robo signaling
    Cytoplasmic microtubules
    Cytoskeleton remodeling Reverse signaling by ephrin B

    5/6 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for  MAPT (see all 6)
        CDK5 Signaling
    14-3-3-mediated Signaling
    p70S6K Signaling
    Amyloid Processing
    Reelin Signaling in Neurons

    1 Cell Signaling Technology (CST) Pathway for MAPT
        SAPK/JNK Signaling Cascades

    2 Kegg Pathways  (Kegg details for MAPT):
        hsa04010 MAPK signaling pathway
    hsa05010 Alzheimer's disease

        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 (ENSP000003408203 P106361, 2) via UniProtKB, MINT, and/or STRING (see all 56)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GSK3AP498401STRING: ENSP00000222330 EBI-366182,EBI-1044067
    STUB1Q9UNE71STRING: ENSP00000219548 EBI-366182,EBI-357085
    AATFQ9NY612STRING: ENSP00000225402 MINT-49642 MINT-49641
    FYNP062412STRING: ENSP00000357656 MINT-7212444 MINT-7212427
    GSK3BP498412STRING: ENSP00000324806 MINT-3974171 MINT-3974216
    About this table

    5/10 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 10):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000226 microtubule cytoskeleton organization IDA1057175
    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



    (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 Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    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



    (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

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for MAPT
    Sigma-Aldrich shRNA Panels and shRNA for MAPT
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 7): MAPT
    OriGene shRNA RFP (see all 7): MAPT
    OriGene basic RS shRNA (see all 7): MAPT
    OriGene siRNA (see all 7): MAPT
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of MAPT 
    miRNA: Sigma-Aldrich microRNA Mimics for MAPT
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of MAPT 
    6 SABiosciences Assays for microRNAs that regulate MAPT:
    hsa-miR-579 hsa-miR-361-3p hsa-miR-657 hsa-miR-532-3p hsa-miR-1308 hsa-miR-1324
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): MAPT
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 6): MAPT
    OriGene untagged cDNA clones in CMV expression vector (see all 7): MAPT
    OriGene 3'-UTR Clone (see all 6): MAPT 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for MAPT 
    Primers: OriGene genome-wide validated SYBR primer pairs: MAPT
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for MAPT: PPH05972A

    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

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , 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
    MAPT gene expression
    MAPT gene electronic northern expression
    MAPT gene sage expression
    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 the
    others are expressed in the central nervous system

    Primers: OriGene genome-wide validated SYBR primer pairs: MAPT
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for MAPT: PPH05972A
        SABiosciences Expression via Pathway-Focused PCR Arrays including MAPT: PAHS-057A PAHS-088A 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI 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)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    MAPT1   -- microtubule-associated protein tau 86.49(n)
    83.97(a)
    480488  XM_844939.1  XP_850032.1 
    chimpanzee
    (Pan troglodytes)
    MAPT1   -- microtubule-associated protein tau 99.47(n)
    99.34(a)
    450177  NM_001009068.1  NP_001009068.1 
    mouse
    (Mus musculus)
    Mapt5 11 (67.79 cM) microtubule-associated protein tau   -- Z12133 
    zebrafish
    (Danio rerio)
    BI981282.12   --   -- 74.26(n)  BI981282.1 
    worm
    (Caenorhabditis elegans)
    ptl-11   -- Protein with Tau-Like repeats 42.19(n)
    29.69(a)
    175230  NM_001027407.2  NP_001022578.1 
    About this table        Species with no ortholog for MAPT

    ENSEMBL Gene Tree for MAPT (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for MAPT gene
    MAP42  MAP22  

    MAPT for paralogs           About GeneDecksing



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/2600 NCBI SNPs in MAPT are shown (see all 2600)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 17 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs75211,2
    C,F,A44105395(+) CCTGCG/AGCTTC 12 -- ut31 ese311Minor allele frequency- A:0.28MN NS EA NA WA 972
    rs76871,2
    C,F44103296(+) TCTTTT/CCCCCC 12 -- ut31 ese3 trp312Minor allele frequency- C:0.12MN NA NS EA 940
    rs87121,2
    C44101871(+) GAGGGA/GGAAGG 12 -- ut31 trp37Minor allele frequency- G:0.07MN EA NS NA 662
    rs94681,2
    C,F,O,A44101563(+) ATAATT/CGTGGA 12 -- ut3112Minor allele frequency- C:0.15MN NS EA NA 938
    rs1714251,2
    --44019086(+) tgcctG/Tccttc 6 -- int1 trp30--------
    rs1714261,2
    C,A,H44019086(+) TTCCTG/TCCTTC 6 -- int10--------
    rs1902661,2
    --44019061(+) ttcccC/Tccttc 6 -- int1 trp30--------
    rs2425541,2
    C,A44039365(+) CGATCC/TCCTGA 6 -- int15Minor allele frequency- T:0.10NA WA 10
    rs2425551,2
    F43991514(+) aaaaaA/Tttaat 6 -- int10--------
    rs2425561,2
    C,F,O,A,H44002250(+) CCAGAT/ATTTTC 6 -- int1 trp319Minor allele frequency- A:0.13MN NA NS EA 1586
    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 

    (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.)
    About This Section

    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
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Parkinson DiseaseGN  15297935
    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

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    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)
    1. 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)
    2. 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)
    3. Linkage disequilibrium and association of MAPT H1 in Parkinson disease. (PubMed id 15297935)1, 4, 5 Skipper L....Farrer M. (2004)
    4. 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)
    5. The role of tau (MAPT) in frontotemporal dementia and related tauopathies. (PubMed id 15365985)1, 2, 7 Rademakers R.... van Broeckhoven C. (2004)
    6. 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)
    7. 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)
    8. Pick's disease is associated with mutations in the tau gene. (PubMed id 11117542)1, 2, 7 Pickering-Brown S.... Hutton M. (2000)
    9. Mutational analysis of the tau gene in progressive supranuclear palsy. (PubMed id 10534245)1, 2, 7 Higgins J.J.... Loveless J.M. (1999)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4137 HGNC: 6893 AceView: MAPT Ensembl:ENSG00000186868 euGenes: HUgn4137
    ECgene: MAPT Kegg: 4137 H-InvDB: MAPT

    (According to HUGE)
    About This Section
      --

    (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
    NameDescription
    ATLAS Chromosomes in Cancer entry for MAPT Genetics and Cytogenetics in Oncology and Haematology
    Alzheimer Research Forumhttp://www.alzforum.org/res/com/mut/tau/default.asp
    Protein Spotlighthttp://www.expasy.org/spotlight/back_issues/sptlt068.shtml
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MAPT
    Wikipedia http://en.wikipedia.org/wiki/Tau_protein

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    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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