Atlas of Genetics and Cytogenetics in Oncology and Haematology


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MAPT (microtubule associated protein tau)

Identity

Alias_namesDDPAC
MAPTL
Alias_symbol (synonym)MTBT1
tau
PPND
FTDP-17
TAU
MSTD
MTBT2
FLJ31424
MGC138549
PPP1R103
Other alias
HGNC (Hugo) MAPT
LocusID (NCBI) 4137
Atlas_Id 41299
Location 17q21.31  [Link to chromosome band 17q21]
Location_base_pair Starts at 45894382 and ends at 46028333 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
KANSL1 (17q21.31) / MAPT (17q21.31)MAPT (17q21.31) / MAPT (17q21.31)MAPT (17q21.31) / MARCH10 (17q23.2)
RAPGEFL1 (17q21.1) / MAPT (17q21.31)MAPT 17q21.31 / MARCH10 17q23.2RAPGEFL1 17q21.1 / MAPT 17q21.31

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  RAPGEFL1/MAPT (17q21)
t(17;17)(q21;q23) MAPT/MARCH10


External links

Nomenclature
HGNC (Hugo)MAPT   6893
LRG (Locus Reference Genomic)LRG_660
Cards
Entrez_Gene (NCBI)MAPT  4137  microtubule associated protein tau
AliasesDDPAC; FTDP-17; MAPTL; MSTD; 
MTBT1; MTBT2; PPND; PPP1R103; TAU
GeneCards (Weizmann)MAPT
Ensembl hg19 (Hinxton)ENSG00000186868 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000186868 [Gene_View]  ENSG00000186868 [Sequence]  chr17:45894382-46028333 [Contig_View]  MAPT [Vega]
ICGC DataPortalENSG00000186868
TCGA cBioPortalMAPT
AceView (NCBI)MAPT
Genatlas (Paris)MAPT
WikiGenes4137
SOURCE (Princeton)MAPT
Genetics Home Reference (NIH)MAPT
Genomic and cartography
GoldenPath hg38 (UCSC)MAPT  -     chr17:45894382-46028333 +  17q21.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MAPT  -     17q21.31   [Description]    (hg19-Feb_2009)
EnsemblMAPT - 17q21.31 [CytoView hg19]  MAPT - 17q21.31 [CytoView hg38]
Mapping of homologs : NCBIMAPT [Mapview hg19]  MAPT [Mapview hg38]
OMIM157140   168600   172700   260540   600274   601104   
Gene and transcription
Genbank (Entrez)AB073354 AF456477 AK055986 AK095802 AK226139
RefSeq transcript (Entrez)NM_001123066 NM_001123067 NM_001203251 NM_001203252 NM_005910 NM_016834 NM_016835 NM_016841
RefSeq genomic (Entrez)NC_000017 NG_007398 NT_167251 NT_187663
Consensus coding sequences : CCDS (NCBI)MAPT
Cluster EST : UnigeneHs.101174 [ NCBI ]
CGAP (NCI)Hs.101174
Alternative Splicing GalleryENSG00000186868
Gene ExpressionMAPT [ NCBI-GEO ]   MAPT [ EBI - ARRAY_EXPRESS ]   MAPT [ SEEK ]   MAPT [ MEM ]
Gene Expression Viewer (FireBrowse)MAPT [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4137
GTEX Portal (Tissue expression)MAPT
Human Protein AtlasENSG00000186868-MAPT [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP10636   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP10636  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP10636
Splice isoforms : SwissVarP10636
PhosPhoSitePlusP10636
Domaine pattern : Prosite (Expaxy)TAU_MAP_1 (PS00229)    TAU_MAP_2 (PS51491)   
Domains : Interpro (EBI)MAP_tubulin-bd_rpt    Tau   
Domain families : Pfam (Sanger)Tubulin-binding (PF00418)   
Domain families : Pfam (NCBI)pfam00418   
Conserved Domain (NCBI)MAPT
DMDM Disease mutations4137
Blocks (Seattle)MAPT
PDB (SRS)1I8H    2MZ7    2ON9    3OVL    4E0M    4E0N    4E0O    4FL5    4GLR    4NP8    4TQE    4Y32    4Y3B    4Y5I    5DMG    5E2V    5E2W    5HF3    5K7N    5N5A    5N5B    5O3L    5O3O    5O3T    5V5B   
PDB (PDBSum)1I8H    2MZ7    2ON9    3OVL    4E0M    4E0N    4E0O    4FL5    4GLR    4NP8    4TQE    4Y32    4Y3B    4Y5I    5DMG    5E2V    5E2W    5HF3    5K7N    5N5A    5N5B    5O3L    5O3O    5O3T    5V5B   
PDB (IMB)1I8H    2MZ7    2ON9    3OVL    4E0M    4E0N    4E0O    4FL5    4GLR    4NP8    4TQE    4Y32    4Y3B    4Y5I    5DMG    5E2V    5E2W    5HF3    5K7N    5N5A    5N5B    5O3L    5O3O    5O3T    5V5B   
PDB (RSDB)1I8H    2MZ7    2ON9    3OVL    4E0M    4E0N    4E0O    4FL5    4GLR    4NP8    4TQE    4Y32    4Y3B    4Y5I    5DMG    5E2V    5E2W    5HF3    5K7N    5N5A    5N5B    5O3L    5O3O    5O3T    5V5B   
Structural Biology KnowledgeBase1I8H    2MZ7    2ON9    3OVL    4E0M    4E0N    4E0O    4FL5    4GLR    4NP8    4TQE    4Y32    4Y3B    4Y5I    5DMG    5E2V    5E2W    5HF3    5K7N    5N5A    5N5B    5O3L    5O3O    5O3T    5V5B   
SCOP (Structural Classification of Proteins)1I8H    2MZ7    2ON9    3OVL    4E0M    4E0N    4E0O    4FL5    4GLR    4NP8    4TQE    4Y32    4Y3B    4Y5I    5DMG    5E2V    5E2W    5HF3    5K7N    5N5A    5N5B    5O3L    5O3O    5O3T    5V5B   
CATH (Classification of proteins structures)1I8H    2MZ7    2ON9    3OVL    4E0M    4E0N    4E0O    4FL5    4GLR    4NP8    4TQE    4Y32    4Y3B    4Y5I    5DMG    5E2V    5E2W    5HF3    5K7N    5N5A    5N5B    5O3L    5O3O    5O3T    5V5B   
SuperfamilyP10636
Human Protein Atlas [tissue]ENSG00000186868-MAPT [tissue]
Peptide AtlasP10636
HPRD01142
IPIIPI00964662   IPI00220171   IPI00293683   IPI00220173   IPI00220174   IPI00026836   IPI00220175   IPI00025499   IPI00217976   IPI00043401   IPI01010378   IPI01009823   
Protein Interaction databases
DIP (DOE-UCLA)P10636
IntAct (EBI)P10636
FunCoupENSG00000186868
BioGRIDMAPT
STRING (EMBL)MAPT
ZODIACMAPT
Ontologies - Pathways
QuickGOP10636
Ontology : AmiGOmicrotubule cytoskeleton organization  microtubule cytoskeleton organization  microtubule cytoskeleton organization  microglial cell activation  DNA binding  DNA binding  AT DNA binding  double-stranded DNA binding  single-stranded DNA binding  RNA binding  actin binding  protein binding  extracellular region  intracellular  intracellular  nucleus  nucleus  cytoplasm  cytoplasm  mitochondrion  cytosol  cytosol  cytosol  microtubule  plasma membrane  plasma membrane  internal protein amino acid acetylation  activation of cysteine-type endopeptidase activity involved in apoptotic process  cell-cell signaling  memory  microtubule binding  microtubule binding  microtubule binding  microtubule binding  microtubule binding  response to lead ion  regulation of signaling receptor activity  regulation of autophagy  negative regulation of gene expression  negative regulation of mitochondrial membrane potential  microtubule cytoskeleton  microtubule cytoskeleton  membrane  rRNA metabolic process  nuclear speck  SH3 domain binding  axonal transport of mitochondrion  enzyme binding  enzyme binding  protein kinase binding  protein kinase binding  central nervous system neuron development  axon  axon  axon  dendrite  growth cone  axolemma  protein binding, bridging  regulation of microtubule polymerization or depolymerization  regulation of microtubule polymerization  regulation of microtubule polymerization  positive regulation of microtubule polymerization  cytoplasmic microtubule organization  neuron projection development  neuron projection development  positive regulation of superoxide anion generation  regulation of chromosome organization  negative regulation of kinase activity  stress granule assembly  apolipoprotein binding  nuclear periphery  dynactin binding  cellular response to heat  cellular response to reactive oxygen species  phosphatidylinositol binding  cytoplasmic ribonucleoprotein granule  somatodendritic compartment  somatodendritic compartment  identical protein binding  protein homodimerization activity  neuron projection  neuronal cell body  dendritic spine  sequence-specific DNA binding  cell body  cell body  main axon  membrane raft  tubulin complex  positive regulation of axon extension  microtubule polymerization  receptor ligand activity  astrocyte activation  regulation of synaptic plasticity  intracellular distribution of mitochondria  generation of neurons  synapse organization  regulation of calcium-mediated signaling  chaperone binding  protein complex oligomerization  protein phosphatase 2A binding  Hsp90 protein binding  axon development  regulation of microtubule cytoskeleton organization  regulation of microtubule cytoskeleton organization  lipoprotein particle binding  plus-end-directed organelle transport along microtubule  regulation of mitochondrial fission  negative regulation of mitochondrial fission  glial cell projection  neurofibrillary tangle  neurofibrillary tangle  supramolecular fiber organization  axonal transport  axonal transport  histone-dependent DNA binding  microtubule lateral binding  regulation of cellular response to heat  regulation of long-term synaptic depression  positive regulation of neuron death  positive regulation of protein localization to synapse  phosphatidylinositol bisphosphate binding  neurofibrillary tangle assembly  negative regulation of establishment of protein localization to mitochondrion  positive regulation of cellular protein localization  axon cytoplasm  negative regulation of tubulin deacetylation  negative regulation of tubulin deacetylation  positive regulation of diacylglycerol kinase activity  amyloid fibril formation  cellular response to nerve growth factor stimulus  cellular response to brain-derived neurotrophic factor stimulus  regulation of response to DNA damage stimulus  
Ontology : EGO-EBImicrotubule cytoskeleton organization  microtubule cytoskeleton organization  microtubule cytoskeleton organization  microglial cell activation  DNA binding  DNA binding  AT DNA binding  double-stranded DNA binding  single-stranded DNA binding  RNA binding  actin binding  protein binding  extracellular region  intracellular  intracellular  nucleus  nucleus  cytoplasm  cytoplasm  mitochondrion  cytosol  cytosol  cytosol  microtubule  plasma membrane  plasma membrane  internal protein amino acid acetylation  activation of cysteine-type endopeptidase activity involved in apoptotic process  cell-cell signaling  memory  microtubule binding  microtubule binding  microtubule binding  microtubule binding  microtubule binding  response to lead ion  regulation of signaling receptor activity  regulation of autophagy  negative regulation of gene expression  negative regulation of mitochondrial membrane potential  microtubule cytoskeleton  microtubule cytoskeleton  membrane  rRNA metabolic process  nuclear speck  SH3 domain binding  axonal transport of mitochondrion  enzyme binding  enzyme binding  protein kinase binding  protein kinase binding  central nervous system neuron development  axon  axon  axon  dendrite  growth cone  axolemma  protein binding, bridging  regulation of microtubule polymerization or depolymerization  regulation of microtubule polymerization  regulation of microtubule polymerization  positive regulation of microtubule polymerization  cytoplasmic microtubule organization  neuron projection development  neuron projection development  positive regulation of superoxide anion generation  regulation of chromosome organization  negative regulation of kinase activity  stress granule assembly  apolipoprotein binding  nuclear periphery  dynactin binding  cellular response to heat  cellular response to reactive oxygen species  phosphatidylinositol binding  cytoplasmic ribonucleoprotein granule  somatodendritic compartment  somatodendritic compartment  identical protein binding  protein homodimerization activity  neuron projection  neuronal cell body  dendritic spine  sequence-specific DNA binding  cell body  cell body  main axon  membrane raft  tubulin complex  positive regulation of axon extension  microtubule polymerization  receptor ligand activity  astrocyte activation  regulation of synaptic plasticity  intracellular distribution of mitochondria  generation of neurons  synapse organization  regulation of calcium-mediated signaling  chaperone binding  protein complex oligomerization  protein phosphatase 2A binding  Hsp90 protein binding  axon development  regulation of microtubule cytoskeleton organization  regulation of microtubule cytoskeleton organization  lipoprotein particle binding  plus-end-directed organelle transport along microtubule  regulation of mitochondrial fission  negative regulation of mitochondrial fission  glial cell projection  neurofibrillary tangle  neurofibrillary tangle  supramolecular fiber organization  axonal transport  axonal transport  histone-dependent DNA binding  microtubule lateral binding  regulation of cellular response to heat  regulation of long-term synaptic depression  positive regulation of neuron death  positive regulation of protein localization to synapse  phosphatidylinositol bisphosphate binding  neurofibrillary tangle assembly  negative regulation of establishment of protein localization to mitochondrion  positive regulation of cellular protein localization  axon cytoplasm  negative regulation of tubulin deacetylation  negative regulation of tubulin deacetylation  positive regulation of diacylglycerol kinase activity  amyloid fibril formation  cellular response to nerve growth factor stimulus  cellular response to brain-derived neurotrophic factor stimulus  regulation of response to DNA damage stimulus  
Pathways : KEGGMAPK signaling pathway    Alzheimer's disease   
NDEx NetworkMAPT
Atlas of Cancer Signalling NetworkMAPT
Wikipedia pathwaysMAPT
Orthology - Evolution
OrthoDB4137
GeneTree (enSembl)ENSG00000186868
Phylogenetic Trees/Animal Genes : TreeFamMAPT
HOVERGENP10636
HOGENOMP10636
Homologs : HomoloGeneMAPT
Homology/Alignments : Family Browser (UCSC)MAPT
Gene fusions - Rearrangements
Fusion : MitelmanMAPT/MARCH10 [17q21.31/17q23.2]  
Fusion : MitelmanRAPGEFL1/MAPT [17q21.1/17q21.31]  [t(17;17)(q21;q21)]  
Fusion PortalMAPT 17q21.31 MARCH10 17q23.2 BRCA
Fusion PortalRAPGEFL1 17q21.1 MAPT 17q21.31 BRCA
Fusion : QuiverMAPT
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMAPT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MAPT
dbVarMAPT
ClinVarMAPT
1000_GenomesMAPT 
Exome Variant ServerMAPT
ExAC (Exome Aggregation Consortium)ENSG00000186868
GNOMAD BrowserENSG00000186868
Varsome BrowserMAPT
Genetic variants : HAPMAP4137
Genomic Variants (DGV)MAPT [DGVbeta]
DECIPHERMAPT [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMAPT 
Mutations
ICGC Data PortalMAPT 
TCGA Data PortalMAPT 
Broad Tumor PortalMAPT
OASIS PortalMAPT [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMAPT  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMAPT
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch MAPT
DgiDB (Drug Gene Interaction Database)MAPT
DoCM (Curated mutations)MAPT (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MAPT (select a term)
intoGenMAPT
Cancer3DMAPT(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM157140    168600    172700    260540    600274    601104   
Orphanet20340    19331    19335    19334    19333    19332    14642    14643   
DisGeNETMAPT
MedgenMAPT
Genetic Testing Registry MAPT
NextProtP10636 [Medical]
TSGene4137
GENETestsMAPT
Target ValidationMAPT
Huge Navigator MAPT [HugePedia]
snp3D : Map Gene to Disease4137
BioCentury BCIQMAPT
ClinGenMAPT (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4137
Chemical/Pharm GKB GenePA238
Clinical trialMAPT
Miscellaneous
canSAR (ICR)MAPT (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMAPT
EVEXMAPT
GoPubMedMAPT
iHOPMAPT
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 6 11:18:59 CET 2018

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