MAPT (microtubule associated protein tau)

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MAPT (microtubule associated protein tau)

Identity

Alias_names	DDPAC
	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 17q23.2	RAPGEFL1 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
Aliases	DDPAC; 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 DataPortal	ENSG00000186868
TCGA cBioPortal	MAPT
AceView (NCBI)	MAPT
Genatlas (Paris)	MAPT
WikiGenes	4137
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)
Ensembl	MAPT - 17q21.31 [CytoView hg19] MAPT - 17q21.31 [CytoView hg38]
Mapping of homologs : NCBI	MAPT [Mapview hg19] MAPT [Mapview hg38]
OMIM	157140 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 : Unigene	Hs.101174 [ NCBI ]
CGAP (NCI)	Hs.101174
Alternative Splicing Gallery	ENSG00000186868
Gene Expression	MAPT [ 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]
Genevestigator	Expression in : [tissues] [cell-lines] [cancer] [perturbations]
BioGPS (Tissue expression)	4137
GTEX Portal (Tissue expression)	MAPT
Human Protein Atlas	ENSG00000186868-MAPT [pathology] [cell] [tissue]
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	P10636 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction]
NextProt	P10636 [Sequence] [Exons] [Medical] [Publications]
With graphics : InterPro	P10636
Splice isoforms : SwissVar	P10636
PhosPhoSitePlus	P10636
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 mutations	4137
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 KnowledgeBase	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
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
Superfamily	P10636
Human Protein Atlas [tissue]	ENSG00000186868-MAPT [tissue]
Peptide Atlas	P10636
HPRD	01142
IPI	IPI00964662 IPI00220171 IPI00293683 IPI00220173 IPI00220174 IPI00026836 IPI00220175 IPI00025499 IPI00217976 IPI00043401 IPI01010378 IPI01009823
	Protein Interaction databases
DIP (DOE-UCLA)	P10636
IntAct (EBI)	P10636
FunCoup	ENSG00000186868
BioGRID	MAPT
STRING (EMBL)	MAPT
ZODIAC	MAPT
	Ontologies - Pathways
QuickGO	P10636
Ontology : AmiGO	microtubule 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-EBI	microtubule 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 : KEGG	MAPK signaling pathway Alzheimer's disease
NDEx Network	MAPT
Atlas of Cancer Signalling Network	MAPT
Wikipedia pathways	MAPT
	Orthology - Evolution
OrthoDB	4137
GeneTree (enSembl)	ENSG00000186868
Phylogenetic Trees/Animal Genes : TreeFam	MAPT
HOVERGEN	P10636
HOGENOM	P10636
Homologs : HomoloGene	MAPT
Homology/Alignments : Family Browser (UCSC)	MAPT
	Gene fusions - Rearrangements
Fusion : Mitelman	MAPT/MARCH10 [17q21.31/17q23.2]
Fusion : Mitelman	RAPGEFL1/MAPT [17q21.1/17q21.31] [t(17;17)(q21;q21)]
Fusion Portal	MAPT 17q21.31 MARCH10 17q23.2 BRCA
Fusion Portal	RAPGEFL1 17q21.1 MAPT 17q21.31 BRCA
Fusion : Quiver	MAPT
	Polymorphisms : SNP and Copy number variants
NCBI Variation Viewer	MAPT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)	MAPT
dbVar	MAPT
ClinVar	MAPT
1000_Genomes	MAPT
Exome Variant Server	MAPT
ExAC (Exome Aggregation Consortium)	ENSG00000186868
GNOMAD Browser	ENSG00000186868
Varsome Browser	MAPT
Genetic variants : HAPMAP	4137
Genomic Variants (DGV)	MAPT [DGVbeta]
DECIPHER	MAPT [patients] [syndromes] [variants] [genes]
CONAN: Copy Number Analysis	MAPT
	Mutations
ICGC Data Portal	MAPT
TCGA Data Portal	MAPT
Broad Tumor Portal	MAPT
OASIS Portal	MAPT [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMIC	MAPT [overview] [genome browser] [tissue] [distribution]
Mutations and Diseases : HGMD	MAPT
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
BioMuta	search 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)
intoGen	MAPT
Cancer3D	MAPT(select the gene name)
Impact of mutations	[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
	Diseases
OMIM	157140 168600 172700 260540 600274 601104
Orphanet	20340 19331 19335 19334 19333 19332 14642 14643
DisGeNET	MAPT
Medgen	MAPT
Genetic Testing Registry	MAPT
NextProt	P10636 [Medical]
TSGene	4137
GENETests	MAPT
Target Validation	MAPT
Huge Navigator	MAPT [HugePedia]
snp3D : Map Gene to Disease	4137
BioCentury BCIQ	MAPT
ClinGen	MAPT (curated)
	Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD	4137
Chemical/Pharm GKB Gene	PA238
Clinical trial	MAPT
	Miscellaneous
canSAR (ICR)	MAPT (select the gene name)
	Probes
	Litterature
PubMed	499 Pubmed reference(s) in Entrez
GeneRIFs	Gene References Into Functions (Entrez)
CoreMine	MAPT
EVEX	MAPT
GoPubMed	MAPT
iHOP	MAPT

Genes in title	automatic search in PubMed
REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI NCBI

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

Home Genes Leukemias Solid Tumors Cancer-Prone Deep Insight Case Reports Journals Portal Teaching

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.

Atlas of Genetics and Cytogenetics in Oncology and Haematology

MAPT (microtubule associated protein tau)

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

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