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    MAPT microtubule associated protein tau [ Homo sapiens (human) ]

    Gene ID: 4137, updated on 2-Dec-2016
    Official Symbol
    MAPTprovided by HGNC
    Official Full Name
    microtubule associated protein tauprovided by HGNC
    Primary source
    HGNC:HGNC:6893
    See related
    Ensembl:ENSG00000186868 MIM:157140; Vega:OTTHUMG00000168833
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TAU; MSTD; PPND; DDPAC; MAPTL; MTBT1; MTBT2; FTDP-17; PPP1R103
    Summary
    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]
    Orthologs
    Location:
    17q21.31
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (45894382..46028334)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (43971702..44105700)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene CRHR1-IT1-CRHR1 readthrough Neighboring gene corticotropin releasing hormone receptor 1 Neighboring gene MAPT antisense RNA 1 Neighboring gene signal peptide peptidase like 2C Neighboring gene uncharacterized LOC105371800 Neighboring gene MAPT intronic transcript 1 Neighboring gene saitohin Neighboring gene KAT8 regulatory NSL complex subunit 1 Neighboring gene uncharacterized LOC107985027 Neighboring gene KANSL1 antisense RNA 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated (2012-05-08)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated (2012-05-08)

    ClinGen Genome Curation Page

    NHGRI GWAS Catalog

    Description
    Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease.
    NHGRI GWA Catalog
    Common variants at 12q15 and 12q24 are associated with infant head circumference.
    NHGRI GWA Catalog
    Common variants at 6q22 and 17q21 are associated with intracranial volume.
    NHGRI GWA Catalog
    Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.
    NHGRI GWA Catalog
    Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study.
    NHGRI GWA Catalog
    Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease.
    NHGRI GWA Catalog
    Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
    NHGRI GWA Catalog
    Genome-wide association study reveals genetic risk underlying Parkinson's disease.
    NHGRI GWA Catalog
    Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.
    NHGRI GWA Catalog
    Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    NHGRI GWA Catalog
    Identification of a novel Parkinson's disease locus via stratified genome-wide association study.
    NHGRI GWA Catalog
    Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.
    NHGRI GWA Catalog
    Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.
    NHGRI GWA Catalog
    Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
    NHGRI GWA Catalog
    Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat induces hyperphosphorylation of Tau in neuronal cells PubMed
    tat Treatment of microglia cells with HIV-1 Tat shows TAU5 and synapsin-1 positive inclusions in cells PubMed

    Go to the HIV-1, Human Interaction Database

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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ31424, MGC138549

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Hsp90 protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    SH3 domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    actin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    apolipoprotein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    dynactin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    lipoprotein particle binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    microtubule binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microtubule binding TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein phosphatase 2A binding TAS
    Traceable Author Statement
    more info
    PubMed 
    receptor agonist activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    receptor agonist activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    activation of cysteine-type endopeptidase activity involved in apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    astrocyte activation TAS
    Traceable Author Statement
    more info
    PubMed 
    axonal transport TAS
    Traceable Author Statement
    more info
    PubMed 
    axonal transport of mitochondrion TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular response to heat TAS
    Traceable Author Statement
    more info
    PubMed 
    cytoplasmic microtubule organization TAS
    Traceable Author Statement
    more info
    PubMed 
    generation of neurons NAS
    Non-traceable Author Statement
    more info
    PubMed 
    intracellular distribution of mitochondria IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    memory IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    microglial cell activation TAS
    Traceable Author Statement
    more info
    PubMed 
    microtubule cytoskeleton organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of establishment of protein localization to mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of mitochondrial fission IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of mitochondrial membrane potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neurofibrillary tangle assembly NAS
    Non-traceable Author Statement
    more info
    PubMed 
    neuron projection development TAS
    Traceable Author Statement
    more info
    PubMed 
    plus-end-directed organelle transport along microtubule TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of axon extension IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of diacylglycerol kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of microtubule polymerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of neuron death IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of protein localization to synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of superoxide anion generation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein oligomerization TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of autophagy IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    regulation of calcium-mediated signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of cellular response to heat IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of microtubule polymerization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    regulation of mitochondrial fission IC
    Inferred by Curator
    more info
    PubMed 
    regulation of response to DNA damage stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    synapse organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    axon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    axon NAS
    Non-traceable Author Statement
    more info
    PubMed 
    axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    cell body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasmic ribonucleoprotein granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    dendrite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    growth cone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    microtubule NAS
    Non-traceable Author Statement
    more info
    PubMed 
    neurofibrillary tangle NAS
    Non-traceable Author Statement
    more info
    PubMed 
    neuronal cell body IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nuclear periphery IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    somatodendritic compartment IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    tubulin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    microtubule-associated protein tau
    Names
    G protein beta1/gamma2 subunit-interacting factor 1
    PHF-tau
    microtubule-associated protein tau, isoform 4
    neurofibrillary tangle protein
    paired helical filament-tau
    protein phosphatase 1, regulatory subunit 103

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007398.1 RefSeqGene

      Range
      4921..138924
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001123066.3NP_001116538.2  microtubule-associated protein tau isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) encodes the longest isoform (6).
      Source sequence(s)
      AW295014, BN000503, CR936218, DN996935
      Consensus CDS
      CCDS45715.1
      UniProtKB/Swiss-Prot
      P10636
      Related
      ENSP00000340820, ENST00000344290
      Conserved Domains (1) summary
      pfam00418
      Location:610639
      Tubulin-binding; Tau and MAP protein, tubulin-binding repeat
    2. NM_001123067.3NP_001116539.1  microtubule-associated protein tau isoform 5

      See identical proteins and their annotated locations for NP_001116539.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks four internal coding exons, as compared to variant 6. The reading frame is not affected, and the resulting isoform (5) has identical N- and C-termini but lacks four segments, as compared to isoform 6.
      Source sequence(s)
      BC114948, CR936218, DN996935
      Consensus CDS
      CCDS45716.1
      UniProtKB/Swiss-Prot
      P10636
      Related
      ENSP00000340438, ENST00000340799
      Conserved Domains (1) summary
      pfam00418
      Location:246275
      Tubulin-binding; Tau and MAP protein, tubulin-binding repeat
    3. NM_001203251.1NP_001190180.1  microtubule-associated protein tau isoform 7

      See identical proteins and their annotated locations for NP_001190180.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks four internal coding exons, as compared to variant 6. The reading frame is not affected, and the resulting isoform (7) has identical N- and C-termini but lacks four segments, as compared to isoform 6.
      Source sequence(s)
      AK095802, CR936218, DN996935
      UniProtKB/TrEMBL
      A0A024RA19, B3KTM0
      Conserved Domains (1) summary
      pfam00418
      Location:246275
      Tubulin-binding; Tau and MAP protein, tubulin-binding repeat
    4. NM_001203252.1NP_001190181.1  microtubule-associated protein tau isoform 8

      See identical proteins and their annotated locations for NP_001190181.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) lacks three internal coding exons, as compared to variant 6. The reading frame is not affected, and the resulting isoform (8) has identical N- and C-termini but lacks three segments, as compared to isoform 6.
      Source sequence(s)
      AK095802, BN000503, CR936218, DN996935
      Consensus CDS
      CCDS56033.1
      UniProtKB/Swiss-Prot
      P10636
      UniProtKB/TrEMBL
      B3KTM0
      Related
      ENSP00000443028, ENST00000535772
      Conserved Domains (1) summary
      pfam00418
      Location:275304
      Tubulin-binding; Tau and MAP protein, tubulin-binding repeat
    5. NM_005910.5NP_005901.2  microtubule-associated protein tau isoform 2

      See identical proteins and their annotated locations for NP_005901.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks three internal coding exons, as compared to variant 6. The reading frame is not affected, and the resulting isoform (2) has identical N- and C-termini but lacks three segments, as compared to isoform 6.
      Source sequence(s)
      BN000503, CR936218, DN996935, X14474
      Consensus CDS
      CCDS11499.1
      UniProtKB/Swiss-Prot
      P10636
      UniProtKB/TrEMBL
      A0A024RA17
      Related
      ENSP00000303214, ENST00000351559
      Conserved Domains (1) summary
      pfam00418
      Location:275304
      Tubulin-binding; Tau and MAP protein, tubulin-binding repeat
    6. NM_016834.4NP_058518.1  microtubule-associated protein tau isoform 3

      See identical proteins and their annotated locations for NP_058518.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks five internal coding exons, as compared to variant 6. The reading frame is not affected, and the resulting isoform (3) has identical N- and C-termini but lacks four segments, as compared to isoform 6.
      Source sequence(s)
      BC114948, CR936218, DN996935
      Consensus CDS
      CCDS11500.1
      UniProtKB/Swiss-Prot
      P10636
      UniProtKB/TrEMBL
      A0A024R9Y0
      Related
      ENSP00000408975, OTTHUMP00000239569, ENST00000446361, OTTHUMT00000401263
      Conserved Domains (1) summary
      pfam00418
      Location:217246
      Tubulin-binding; Tau and MAP protein, tubulin-binding repeat
    7. NM_016835.4NP_058519.3  microtubule-associated protein tau isoform 1

      See identical proteins and their annotated locations for NP_058519.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks one internal coding exons, as compared to variant 6. The reading frame is not affected, and the resulting isoform (1) has identical N- and C-termini but lacks one segment, as compared to isoform 6.
      Source sequence(s)
      AW295014, BC114948, BN000503, CR936218, DN996935
      Consensus CDS
      CCDS11501.1
      UniProtKB/Swiss-Prot
      P10636
      UniProtKB/TrEMBL
      A0A024R9Y1
      Related
      ENSP00000262410, ENST00000262410
      Conserved Domains (1) summary
      pfam00418
      Location:592621
      Tubulin-binding; Tau and MAP protein, tubulin-binding repeat
    8. NM_016841.4NP_058525.1  microtubule-associated protein tau isoform 4

      See identical proteins and their annotated locations for NP_058525.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks six internal coding exons, as compared to variant 6. The reading frame is not affected, and the resulting isoform (4) has identical N- and C-termini but lacks five segments, as compared to isoform 6.
      Source sequence(s)
      BC000558, CR936218, DN996935
      Consensus CDS
      CCDS11502.1
      UniProtKB/Swiss-Prot
      P10636
      Related
      ENSP00000334886, OTTHUMP00000239568, ENST00000334239, OTTHUMT00000401262
      Conserved Domains (1) summary
      pfam00418
      Location:217246
      Tubulin-binding; Tau and MAP protein, tubulin-binding repeat

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      45894382..46028334
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005257370.4XP_005257427.1  

      Conserved Domains (1) summary
      pfam00418
      Location:312341
      Tubulin-binding; Tau and MAP protein, tubulin-binding repeat
    2. XM_005257366.3XP_005257423.1  

      Conserved Domains (1) summary
      pfam00418
      Location:638667
      Tubulin-binding; Tau and MAP protein, tubulin-binding repeat
    3. XM_005257362.4XP_005257419.1  

      Conserved Domains (1) summary
      pfam00418
      Location:696725
      Tubulin-binding; Tau and MAP protein, tubulin-binding repeat
    4. XM_005257365.4XP_005257422.1  

      Conserved Domains (1) summary
      pfam00418
      Location:696725
      Tubulin-binding; Tau and MAP protein, tubulin-binding repeat
    5. XM_005257367.4XP_005257424.1  

      Conserved Domains (1) summary
      pfam00418
      Location:630659
      Tubulin-binding; Tau and MAP protein, tubulin-binding repeat
    6. XM_005257368.4XP_005257425.1  

      Conserved Domains (1) summary
      pfam00418
      Location:630659
      Tubulin-binding; Tau and MAP protein, tubulin-binding repeat
    7. XM_005257369.4XP_005257426.1  

      Conserved Domains (1) summary
      pfam00418
      Location:341370
      Tubulin-binding; Tau and MAP protein, tubulin-binding repeat
    8. XM_005257364.4XP_005257421.1  

      Conserved Domains (1) summary
      pfam00418
      Location:667696
      Tubulin-binding; Tau and MAP protein, tubulin-binding repeat
    9. XM_005257371.4XP_005257428.1  

      Conserved Domains (1) summary
      pfam00418
      Location:283312
      Tubulin-binding; Tau and MAP protein, tubulin-binding repeat

    Reference GRCh38.p7 ALT_REF_LOCI_1

    Genomic

    1. NT_167251.2 Reference GRCh38.p7 ALT_REF_LOCI_1

      Range
      760287..893837 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_2

    Genomic

    1. NT_187663.1 Reference GRCh38.p7 ALT_REF_LOCI_2

      Range
      596513..730446
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      44218591..44352524
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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