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

    Gene ID: 4137, updated on 14-May-2013
    Official Symbol
    MAPTprovided by HGNC
    Official Full Name
    microtubule-associated protein tauprovided by HGNC
    Primary source
    HGNC:6893
    See related
    Ensembl:ENSG00000186868; HPRD:01142; 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
    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]
    Location :
    17q21.1
    Sequence :
    Chromosome: 17; NC_000017.10 (43971748..44105700)
    See MAPT in Epigenomics, MapViewer

    Chromosome 17 - NC_000017.10Genomic Context describing neighboring genes Neighboring gene CRHR1 intronic transcript 1 (non-protein coding) Neighboring gene corticotropin releasing hormone receptor 1 Neighboring gene MAPT antisense RNA 1 Neighboring gene signal peptide peptidase like 2C Neighboring gene MAPT intronic transcript 1 (non-protein coding) Neighboring gene saitohin Neighboring gene KAT8 regulatory NSL complex subunit 1 Neighboring gene KANSL1 antisense RNA 1 Neighboring gene mitogen-activated protein kinase 8 interacting protein, pseudogene

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort. Van Langenhove T, et al. JAMA Neurol, 2013 Mar 1. PMID 23338682.
    2. Imbalance of Hsp70 family variants fosters tau accumulation. Jinwal UK, et al. FASEB J, 2013 Apr. PMID 23271055.
    3. The fuzzy coat of pathological human Tau fibrils is a two-layered polyelectrolyte brush. Wegmann S, et al. Proc Natl Acad Sci U S A, 2013 Jan 22. PMID 23269837.
    4. Curcumin suppresses soluble tau dimers and corrects molecular chaperone, synaptic, and behavioral deficits in aged human tau transgenic mice. Ma QL, et al. J Biol Chem, 2013 Feb 8. PMID 23264626.
    5. Involvement of endoplasmic reticulum stress in tauopathy. Sakagami Y, et al. Biochem Biophys Res Commun, 2013 Jan 11. PMID 23237806.

    See all (955) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. In conditions of increased or altered expression of tau and its isoforms, a therapy that is not directly affected by changes in tau is desirable.
      Title: Non-taxoid site microtubule-stabilizing drugs work independently of tau overexpression in mouse N2a neuroblastoma cells.
    2. Overview of development of abnormal tau in brainstem nuclei in the development and progression of Alzheimer disease. [Review Article]
      Title: Where, when, and in what form does sporadic Alzheimer's disease begin?
    3. We demonstrate that tau secretion and its suppression by low temperature also occurs in human neurons
      Title: Constitutive secretion of tau protein by an unconventional mechanism.
    4. C9orf72-associated frontotemporal lobar degeneration patients present with early-onset behavioral variant with disinhibition compared to MAPT mutation carriers.
      Title: Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort.
    5. Overview of the role of tau protein in Alzheimer disease pathogenesis. [Review Article]
      Title: Origins of Alzheimer's disease: reconciling cerebrospinal fluid biomarker and neuropathology data regarding the temporal sequence of amyloid-beta and tau involvement.
    6. Curcumin suppresses soluble tau dimers and corrects molecular chaperone, synaptic, and behavioral deficits
      Title: Curcumin suppresses soluble tau dimers and corrects molecular chaperone, synaptic, and behavioral deficits in aged human tau transgenic mice.
    7. Binding of the three-repeat domain of tau to phospholipid membranes induces an aggregated-like state of the protein
      Title: Binding of the three-repeat domain of tau to phospholipid membranes induces an aggregated-like state of the protein.
    8. These results suggest that rs7768046 and rs913275 both influence CSF tau levels in an Alzheimer's disease-associated manner.
      Title: Tau phosphorylation pathway genes and cerebrospinal fluid tau levels in Alzheimer's disease.
    9. These results support the hypothesis that haplotype-specific variation in the MAPT 3' UTR underlies an Abeta-independent mechanism for neurodegeneration in tangle-predominant dementia.
      Title: The MAPT H1 haplotype is associated with tangle-predominant dementia.
    10. Review of the role of tau in Alzheimer disease and potentinal targeted therapies.
      Title: Developing therapeutic approaches to tau, selected kinases, and related neuronal protein targets.
    Submit: New GeneRIF Correction See all (740)

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Frontotemporal dementia

    Summary from GeneReviews: MAPT-Related Disorders Go to GeneReviews

    Disease Characteristics
    The clinical manifestations of MAPT-related disorders (MAPT-related tauopathies) are most typically those of frontotemporal dementia (FTDP-17), but also include progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), mild late-onset parkinsonism, and dementia with epilepsy. Clinical presentation of frontotemporal dementia (FTD) is variable: some present with slowly progressive behavioral changes, language disturbances, and/or extrapyramidal signs, whereas others present with rigidity, bradykinesia, supranuclear palsy, and saccadic eye movement disorders. Onset is usually between ages 40 and 60 years, but may be earlier or later. The disease progresses over a few years into profound dementia with mutism. PSP is characterized by progressive vertical gaze palsy in combination with a prominent loss of balance at early stages of the disease. With progression, axial rigidity, dysarthria, and dysphagia become prominent, often in combination with a frontal dysexecutive syndrome. CBD is a progressive neurodegenerative disorder which affects both the frontoparietal cortex and the basal ganglia, resulting in a mild to moderate dementia in combination with asymmetric parkinsonism, ideomotor apraxia, aphasia, and an alien-hand syndrome.
    Diagnosis Testing
    The diagnosis of a MAPT- related disorder relies on: typical clinical findings; often on characteristic findings on neuroimaging, single-photon emission computed tomography (SPECT), or positron emission tomography with (18)F-fluorodeoxyglucose (FDG-PET); a positive family history; and most importantly, demonstration of a disease-causing mutation in MAPT, the gene encoding the protein tau. Molecular genetic testing of MAPT is clinically available.
    Genetic Counseling
    MATP-related disorders are inherited in an autosomal dominant manner. Most individuals diagnosed with a MAPT-related disorder have had an affected parent; however, because of the late onset and relatively rapid course of the disease, the affected parent has often died before onset of the disease in the offspring. De novo mutations are extremely rare. Each child of an individual with a MAPT-related disorder has a 50% chance of inheriting the mutation. Prenatal diagnosis for pregnancies at increased risk is possible when the disease-causing allele in the family is known; however, requests for prenatal diagnosis of (typically) adult-onset diseases are not common.
    References

    Parkinson's disease

    Summary from GeneReviews: Parkinson Disease Overview Go to GeneReviews

    Disease Characteristics
    Parkinsonism refers to all clinical states characterized by tremor, muscle rigidity, and slowed movement (bradykinesia). Parkinson disease is the primary and most common form of parkinsonism. Psychiatric manifestations, which include depression and visual hallucinations, are common but not uniformly present. Dementia eventually occurs in at least 20% of cases. Generally, individuals with onset before age 20 years are considered to have juvenile-onset Parkinson disease, those with onset before age 50 years are classified as having early-onset Parkinson disease, and those with onset after age 50 years are considered to have late-onset Parkinson disease.
    Diagnosis Testing
    The diagnosis of Parkinson disease is based solely on the clinical findings of tremor, rigidity, and bradykinesia. A good response to levodopa and asymmetric onset of limb involvement are generally regarded as supporting diagnostic features. The cardinal pathologic feature of Parkinson disease is the loss of dopaminergic neurons in the substantia nigra with intracytoplasmic inclusions (Lewy bodies) in the remaining, intact nigral neurons. The genetic cause of some forms of Parkinson disease has been identified. Seven disease genes have been implicated. Mutations in three known genes, SNCA (PARK1), UCHL1 (PARK5), and LRRK2 (PARK8) and one mapped gene (PARK3) result in autosomal dominant Parkinson disease. Mutations in three known genes, PARK2 (PARK2), PARK7 (PARK7), and PINK1 (PARK6), result in autosomal recessive Parkinson disease. Three susceptibility genes have been identified. Molecular genetic testing is clinically available for PARK2 (the gene encoding parkin), PINK1, PARK7, SNCA, and LRRK2.
    Genetic Counseling
    Parkinson disease can be inherited in an autosomal dominant or autosomal recessive manner; however, most cases of Parkinson disease are thought to result from the effects of multiple genes as well as environmental risk factors. Genetic counseling of affected individuals and their family members must be done on a family-by-family basis. The risk to first-degree relatives of a person with Parkinson disease varies from study to study and from country to country. In families with a non-mendelian form of Parkinson disease, first-degree relatives of an affected individual are between 2.7 and 3.5 times more likely to develop Parkinson disease than individuals without a family history of Parkinson disease. Their cumulative lifetime risk of developing Parkinson disease is therefore between 3% and 7%.
    References

    Summary from GeneReviews: LRRK2-Related Parkinson Disease Go to GeneReviews

    Disease Characteristics
    LRRK2-related Parkinson disease (PD) is characterized by features consistent with idiopathic PD: initial motor features of slowly progressive asymmetric tremor at rest and/or bradykinesia, cog-wheel muscle rigidity, postural instability, and gait abnormalities including festination and freezing. Non-motor symptoms in LRRK2-related PD occur with the same frequency as observed in typical idiopathic PD. Onset is generally after age 50 years.
    Diagnosis Testing
    The diagnosis of LRRK2-related PD relies on clinical findings and the identification of a disease-causing mutation in LRRK2.
    Genetic Counseling
    LRRK2-related PD is inherited in an autosomal dominant manner. De novo gene mutations may occur; their frequency is unknown. Each child of an individual with LRRK2-related Parkinson disease has a 50% chance of inheriting the disease-causing mutation. Prenatal diagnosis for pregnancies at increased risk is possible if disease-causing mutation in the family is known.
    References

    Pick's disease

    Summary from GeneReviews: MAPT-Related Disorders Go to GeneReviews

    Disease Characteristics
    The clinical manifestations of MAPT-related disorders (MAPT-related tauopathies) are most typically those of frontotemporal dementia (FTDP-17), but also include progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), mild late-onset parkinsonism, and dementia with epilepsy. Clinical presentation of frontotemporal dementia (FTD) is variable: some present with slowly progressive behavioral changes, language disturbances, and/or extrapyramidal signs, whereas others present with rigidity, bradykinesia, supranuclear palsy, and saccadic eye movement disorders. Onset is usually between ages 40 and 60 years, but may be earlier or later. The disease progresses over a few years into profound dementia with mutism. PSP is characterized by progressive vertical gaze palsy in combination with a prominent loss of balance at early stages of the disease. With progression, axial rigidity, dysarthria, and dysphagia become prominent, often in combination with a frontal dysexecutive syndrome. CBD is a progressive neurodegenerative disorder which affects both the frontoparietal cortex and the basal ganglia, resulting in a mild to moderate dementia in combination with asymmetric parkinsonism, ideomotor apraxia, aphasia, and an alien-hand syndrome.
    Diagnosis Testing
    The diagnosis of a MAPT- related disorder relies on: typical clinical findings; often on characteristic findings on neuroimaging, single-photon emission computed tomography (SPECT), or positron emission tomography with (18)F-fluorodeoxyglucose (FDG-PET); a positive family history; and most importantly, demonstration of a disease-causing mutation in MAPT, the gene encoding the protein tau. Molecular genetic testing of MAPT is clinically available.
    Genetic Counseling
    MATP-related disorders are inherited in an autosomal dominant manner. Most individuals diagnosed with a MAPT-related disorder have had an affected parent; however, because of the late onset and relatively rapid course of the disease, the affected parent has often died before onset of the disease in the offspring. De novo mutations are extremely rare. Each child of an individual with a MAPT-related disorder has a 50% chance of inheriting the mutation. Prenatal diagnosis for pregnancies at increased risk is possible when the disease-causing allele in the family is known; however, requests for prenatal diagnosis of (typically) adult-onset diseases are not common.
    References

    Progressive supranuclear ophthalmoplegia

    Summary from GeneReviews: MAPT-Related Disorders Go to GeneReviews

    Disease Characteristics
    The clinical manifestations of MAPT-related disorders (MAPT-related tauopathies) are most typically those of frontotemporal dementia (FTDP-17), but also include progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), mild late-onset parkinsonism, and dementia with epilepsy. Clinical presentation of frontotemporal dementia (FTD) is variable: some present with slowly progressive behavioral changes, language disturbances, and/or extrapyramidal signs, whereas others present with rigidity, bradykinesia, supranuclear palsy, and saccadic eye movement disorders. Onset is usually between ages 40 and 60 years, but may be earlier or later. The disease progresses over a few years into profound dementia with mutism. PSP is characterized by progressive vertical gaze palsy in combination with a prominent loss of balance at early stages of the disease. With progression, axial rigidity, dysarthria, and dysphagia become prominent, often in combination with a frontal dysexecutive syndrome. CBD is a progressive neurodegenerative disorder which affects both the frontoparietal cortex and the basal ganglia, resulting in a mild to moderate dementia in combination with asymmetric parkinsonism, ideomotor apraxia, aphasia, and an alien-hand syndrome.
    Diagnosis Testing
    The diagnosis of a MAPT- related disorder relies on: typical clinical findings; often on characteristic findings on neuroimaging, single-photon emission computed tomography (SPECT), or positron emission tomography with (18)F-fluorodeoxyglucose (FDG-PET); a positive family history; and most importantly, demonstration of a disease-causing mutation in MAPT, the gene encoding the protein tau. Molecular genetic testing of MAPT is clinically available.
    Genetic Counseling
    MATP-related disorders are inherited in an autosomal dominant manner. Most individuals diagnosed with a MAPT-related disorder have had an affected parent; however, because of the late onset and relatively rapid course of the disease, the affected parent has often died before onset of the disease in the offspring. De novo mutations are extremely rare. Each child of an individual with a MAPT-related disorder has a 50% chance of inheriting the mutation. Prenatal diagnosis for pregnancies at increased risk is possible when the disease-causing allele in the family is known; however, requests for prenatal diagnosis of (typically) adult-onset diseases are not common.
    References

    NHGRI GWAS Catalog

    show more
    Products Interactant Other Gene Complex Source Pubs Description
    NP_058519.1 NP_003397.1 YWHAZ    BIND  PubMed Tau interacts with 14-3-3-zeta. 
    NP_058525.1 NP_002084.2 GSK3B    BIND  PubMed GSK3beta phosphorylates Ftau.This interaction was modelled on a demonstrated interaction between rabbit GSK3beta and human Ftau. 
    P10636 Q9NY61 AATF    HPRD  PubMed  
    P10636 P00519 ABL1    HPRD  PubMed  
    P10636 P60709 ACTB    HPRD  PubMed  
    P10636 P02649 APOE    HPRD  PubMed  
    P10636 Hypothetical protein FLJ10357 ARHGEF40    HPRD  PubMed  
    P10636 Calmodulin 1 CALM1    HPRD  PubMed  
    P10636 Q9UQM7 CAMK2A    HPRD  PubMed  
    P10636 P29466 CASP1    HPRD  PubMed  
    P10636 P42574 CASP3    HPRD  PubMed  
    P10636 P55212 CASP6    HPRD  PubMed  
    P10636 P55210 CASP7    HPRD  PubMed  
    P10636 Q14790 CASP8    HPRD  PubMed  
    P10636 P06493 CDK1    HPRD  PubMed  
    P10636 Q00535 CDK5    HPRD  PubMed  
    P10636 Q00535 CDK5    HPRD  PubMed  
    P10636 Q00535 CDK5    HPRD  PubMed  
    P10636 P06241 FYN    HPRD  PubMed  
    P10636 P49840 GSK3A    HPRD  PubMed  
    P10636 P49841 GSK3B    HPRD  PubMed  
    P10636 P11142 HSPA8    HPRD  PubMed  
    P10636 P53778 MAPK12    HPRD  PubMed  
    P10636 P10636 MAPT    HPRD  PubMed  
    P10636 Q9P0L2 MARK1    HPRD  PubMed  
    P10636 Q96L34 MARK4    HPRD  PubMed  
    P10636 O15294 OGT    HPRD  PubMed  
    P10636 Q16816 PHKG1    HPRD  PubMed  
    P10636 Q13526 PIN1    HPRD  PubMed  
    P10636 Q16512 PKN1    HPRD  PubMed  
    P10636 Protein phosphatase 2A, catalytic subunit, alpha isoform PPP2CA    HPRD  PubMed  
    P10636 P62714 PPP2CB    HPRD  PubMed  
    P10636 Q15172 PPP2R5A    HPRD  PubMed  
    P10636 P53041 PPP5C    HPRD  PubMed  
    P10636 Q05655 PRKCD    HPRD  PubMed  
    P10636 P49768 PSEN1    HPRD  PubMed  
    P10636 P51812 RPS6KA3    HPRD  PubMed  
    P10636 P23443 RPS6KB1    HPRD  PubMed  
    P10636 P04271 S100B    HPRD  PubMed  
    P10636 P37840 SNCA    HPRD  PubMed  
    P10636 P11277 SPTB    HPRD  PubMed  
    P10636 O95793 STAU1    HPRD  PubMed  
    P10636 Q9UNE7 STUB1    HPRD  PubMed  
    P10636 P61764 STXBP1    HPRD  PubMed  
    P10636 P68366 TUBA4A    HPRD  PubMed  
    P10636 P07437 TUBB    HPRD  PubMed  
    P10636 Ubiquitin B UBB    HPRD  PubMed  
    P10636 O00507 USP9Y    HPRD  PubMed  
    P10636 P31946 YWHAB    HPRD  PubMed  
    P10636 P63104 YWHAZ    HPRD  PubMed  
    BioGRID:110308 BioGRID:117743 AATF    BioGRID  PubMed FRET 
    BioGRID:110308 BioGRID:106543 ABL1    BioGRID  PubMed Biochemical Activity 
    BioGRID:110308 BioGRID:106845 APOE    BioGRID  PubMed Protein-peptide; Reconstituted Complex 
    BioGRID:110308 BioGRID:107049 BAG1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:110308 BioGRID:107252 CALM1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110308 BioGRID:107265 CAMK2A    BioGRID  PubMed Biochemical Activity 
    BioGRID:110308 BioGRID:107274 CAPN2    BioGRID  PubMed Biochemical Activity 
    BioGRID:110308 BioGRID:107455 CDK5    BioGRID  PubMed Biochemical Activity 
    BioGRID:110308 BioGRID:107836 CSNK1A1    BioGRID  PubMed Biochemical Activity 
    BioGRID:110308 BioGRID:107837 CSNK1D    BioGRID  PubMed Biochemical Activity 
    BioGRID:110308 BioGRID:107841 CSNK2A1    BioGRID  PubMed Biochemical Activity 
    BioGRID:110308 BioGRID:108347 EP300    BioGRID  PubMed Biochemical Activity 
    BioGRID:110308 BioGRID:108810 FYN    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:110308 BioGRID:109186 GSK3A    BioGRID  PubMed Biochemical Activity 
    BioGRID:110308 BioGRID:109187 GSK3B    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex 
    BioGRID:110308 BioGRID:115330 HDAC6    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:110308 BioGRID:109535 HSPA1A    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:110308 BioGRID:109540 HSPA4    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:110308 BioGRID:109544 HSPA8    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:110308 BioGRID:251058 Klc1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110308 BioGRID:259289 Klc2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110308 BioGRID:125700 LRRK2    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:110308 BioGRID:110309 MARK1    BioGRID  PubMed Biochemical Activity 
    BioGRID:110308 BioGRID:121760 MARK4    BioGRID  PubMed Biochemical Activity 
    BioGRID:110308 BioGRID:119670 NUB1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110308 BioGRID:114049 OGT    BioGRID  PubMed Biochemical Activity 
    BioGRID:110308 BioGRID:111105 PARK2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110308 BioGRID:111317 PIN1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:110308 BioGRID:111571 PKN1    BioGRID  PubMed Biochemical Activity 
    BioGRID:110308 BioGRID:111516 PPP2R4    BioGRID  PubMed Biochemical Activity 
    BioGRID:110308 BioGRID:111528 PPP5C    BioGRID  PubMed Biochemical Activity 
    BioGRID:110308 BioGRID:111553 PRKACA    BioGRID  PubMed Biochemical Activity 
    BioGRID:110308 BioGRID:111642 PSEN1    BioGRID  PubMed Co-fractionation 
    BioGRID:110308 BioGRID:111674 PSMC2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110308 BioGRID:108480 PTK2B    BioGRID  PubMed Biochemical Activity 
    BioGRID:110308 BioGRID:112109 RPS6KA1    BioGRID  PubMed Biochemical Activity 
    BioGRID:110308 BioGRID:112111 RPS6KA3    BioGRID  PubMed Biochemical Activity 
    BioGRID:110308 BioGRID:114676 RPS6KA5    BioGRID  PubMed Biochemical Activity 
    BioGRID:110308 BioGRID:112112 RPS6KB1    BioGRID  PubMed Biochemical Activity 
    BioGRID:110308 BioGRID:112193 S100B    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110308 BioGRID:112344 SGK1    BioGRID  PubMed Biochemical Activity 
    BioGRID:110308 BioGRID:116983 SIRT1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:110308 BioGRID:112506 SNCA    BioGRID  PubMed Affinity Capture-Western; Co-localization; Co-purification; Reconstituted Complex 
    BioGRID:110308 BioGRID:114397 SQSTM1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110308 BioGRID:115563 STUB1    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Co-purification 
    BioGRID:110308 BioGRID:112681 STXBP1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110308 BioGRID:112717 SYK    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:110308 BioGRID:113041 TRAF6    BioGRID  PubMed Biochemical Activity 
    BioGRID:110308 BioGRID:113603 TUBA1A    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110308 BioGRID:204372 Tuba1a    BioGRID  PubMed Co-purification 
    BioGRID:110308 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110308 BioGRID:113170 UBE2D2    BioGRID  PubMed Biochemical Activity 
    BioGRID:110308 BioGRID:113361 YWHAB    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110308 BioGRID:113366 YWHAZ    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    • Alzheimer's disease, organism-specific biosystem (from KEGG)
      Alzheimer's disease, organism-specific biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
    • Alzheimer's disease, conserved biosystem (from KEGG)
      Alzheimer's disease, conserved biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
    • Alzheimers Disease, organism-specific biosystem (from WikiPathways)
      Alzheimers Disease, organism-specific biosystemThis pathway displays current genes, proteolytic events and other processes associated with the progression of Alzheimer's disease. This pathway was adapted from KEGG on 10/7/2011. Note: mitochondria...
    • Apoptosis, organism-specific biosystem (from REACTOME)
      Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
    • Apoptotic cleavage of cellular proteins, organism-specific biosystem (from REACTOME)
      Apoptotic cleavage of cellular proteins, organism-specific biosystemApoptotic cell death is achieved by the caspase-mediatedcleavage of various vital proteins. Among caspase targets are proteins such as E-cadherin, Beta-catenin, alpha fodrin, GAS2, FADK, alpha adduc...
    • Apoptotic execution phase, organism-specific biosystem (from REACTOME)
      Apoptotic execution phase, organism-specific biosystemIn the execution phase of apoptosis, effector caspases cleave vital cellular proteins leading to the morphological changes that characterize apoptosis. These changes include destruction of the nucle...
    • BDNF signaling pathway, organism-specific biosystem (from WikiPathways)
      BDNF signaling pathway, organism-specific biosystemBrain-derived neurotrophic factor (BDNF) is a neurotrophin essential for growth, differentiation, plasticity, and survival of neurons. BDNF is also required for processes such as energy metabolism, b...
    • Caspase-mediated cleavage of cytoskeletal proteins, organism-specific biosystem (from REACTOME)
      Caspase-mediated cleavage of cytoskeletal proteins, organism-specific biosystemCaspase-mediated cleavage of a number of proteins in the cortical actin network ( ) microfilament system and others involved in maintenance of the cytoskeletal architecture (vimentin, or Gas2 and ...
    • IL-2 Signaling pathway, organism-specific biosystem (from WikiPathways)
      IL-2 Signaling pathway, organism-specific biosystemIL-2 is a multifunctional cytokine with pleiotropic effects on several cells of the immune system. IL-2 was originally discovered as a T cell growth factor, but it was also found to have actions rela...
    • IL-6 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      IL-6 Signaling Pathway, organism-specific biosystemInterleukin-6 belongs to a family of cytokines which includes IL-11, ciliary neurotrophic factor (CNTF), cardiotropin-1, cardiotrophin-like cytokine, leukemia inhibitory factor (LIF) and Oncostatin M...
    • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
    • LPA receptor mediated events, organism-specific biosystem (from Pathway Interaction Database)
      LPA receptor mediated events, organism-specific biosystem
      LPA receptor mediated events
    • MAPK signaling pathway, organism-specific biosystem (from WikiPathways)
      MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • MAPK signaling pathway, organism-specific biosystem (from KEGG)
      MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • MAPK signaling pathway, conserved biosystem (from KEGG)
      MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • Reelin signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      Reelin signaling pathway, organism-specific biosystem
      Reelin signaling pathway
    • Regulation of Microtubule Cytoskeleton, organism-specific biosystem (from WikiPathways)
      Regulation of Microtubule Cytoskeleton, organism-specific biosystem
      Regulation of Microtubule Cytoskeleton

    Markers

    Genotypes

    Homology

    Clone Names

    • FLJ31424, MGC138549

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    SH3 domain binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    apolipoprotein binding IPI
    Inferred from Physical Interaction
    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 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    protein kinase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    structural constituent of cytoskeleton TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    adult walking behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    apoptotic process TAS
    Traceable Author Statement
    more info
    		  
    axon cargo transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    axonogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    cellular component disassembly involved in execution phase of apoptosis TAS
    Traceable Author Statement
    more info
    		  
    generation of neurons NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    microtubule cytoskeleton organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    mitochondrion transport along microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  
    negative regulation of intracellular transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    neuron migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of axon extension IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    positive regulation of microtubule polymerization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    regulation of autophagy IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    regulation of microtubule polymerization NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    regulation of microtubule-based movement IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    axon IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cilium axoneme IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    growth cone IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  
    microtubule associated complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    nuclear periphery IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    tubulin complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Preferred Names
    microtubule-associated protein tau
    Names
    microtubule-associated protein tau
    PHF-tau
    paired helical filament-tau
    neurofibrillary tangle protein
    microtubule-associated protein tau, isoform 4
    G protein beta1/gamma2 subunit-interacting factor 1

    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
      4919..138924
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001123066.3 → NP_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:610 – 640
      Blast Score: 150
      Tubulin-binding; Tau and MAP protein, tubulin-binding repeat

    2. NM_001123067.3 → NP_001116539.1  microtubule-associated protein tau isoform 5

      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:246 – 276
      Blast Score: 145
      Tubulin-binding; Tau and MAP protein, tubulin-binding repeat

    3. NM_001203251.1 → NP_001190180.1  microtubule-associated protein tau isoform 7

      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
      B3KTM0
      Related
      ENSP00000302706, ENST00000347967
      Conserved Domains (1) summary
      pfam00418
      Location:246 – 276
      Blast Score: 136
      Tubulin-binding; Tau and MAP protein, tubulin-binding repeat

    4. NM_001203252.1 → NP_001190181.1  microtubule-associated protein tau isoform 8

      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/TrEMBL
      B3KTM0
      UniProtKB/Swiss-Prot
      P10636
      Related
      ENSP00000443028, ENST00000535772
      Conserved Domains (1) summary
      pfam00418
      Location:275 – 305
      Blast Score: 138
      Tubulin-binding; Tau and MAP protein, tubulin-binding repeat

    5. NM_005910.5 → NP_005901.2  microtubule-associated protein tau isoform 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
      Related
      ENSP00000303214, ENST00000351559
      Conserved Domains (1) summary
      pfam00418
      Location:275 – 305
      Blast Score: 146
      Tubulin-binding; Tau and MAP protein, tubulin-binding repeat

    6. NM_016834.4 → NP_058518.1  microtubule-associated protein tau isoform 3

      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
      Related
      ENSP00000408975, OTTHUMP00000239569, ENST00000446361, OTTHUMT00000401263
      Conserved Domains (1) summary
      pfam00418
      Location:217 – 247
      Blast Score: 142
      Tubulin-binding; Tau and MAP protein, tubulin-binding repeat

    7. NM_016835.4 → NP_058519.3  microtubule-associated protein tau isoform 1

      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
      Related
      ENSP00000262410, ENST00000262410
      Conserved Domains (1) summary
      pfam00418
      Location:592 – 622
      Blast Score: 150
      Tubulin-binding; Tau and MAP protein, tubulin-binding repeat

    8. NM_016841.4 → NP_058525.1  microtubule-associated protein tau isoform 4

      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
      Conserved Domains (1) summary
      pfam00418
      Location:217 – 247
      Blast Score: 134
      Tubulin-binding; Tau and MAP protein, tubulin-binding repeat

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 ALT_REF_LOCI_9

    Genomic

    1. NT_167251.1 Reference GRCh37.p10 ALT_REF_LOCI_9

      Range
      762280..895830, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000017.10 Reference GRCh37.p10 Primary Assembly

      Range
      43971748..44105700
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000149.1 Alternate HuRef

      Range
      39635406..39768427
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018928.1 Alternate CHM1_1.0

      Range
      45168771..45302704
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01031191.1 None
    genomic ABBA01031192.1 None
    genomic ABBA01031193.1 None
    genomic ABBA01031194.1 None
    genomic ABBA01031195.1 None
    genomic ABBA01031196.1 None
    genomic ABBA01031197.1 None
    genomic ABBA01031198.1 (24678..33243) None
    genomic AC004139.2 (107372..124279) None
    genomic AC010792.4 (3327..117406) None
    genomic AC217771.1 None
    genomic AC217779.1 (68962..180862) None
    genomic AF047863.1 AAC04277.1
      AAC04278.1
      AAC04279.1
    genomic AMYH01008444.1 (357036..490969) None
    genomic BX544879.6 (116408..138055) None
    genomic CH471233.1 EAW93565.1
      EAW93566.1
      EAW93567.1
      EAW93568.1
      EAW93569.1
      EAW93570.1
      EAW93571.1
      EAW93572.1
      EAW93573.1
      EAW93574.1
    genomic CR936218.6 (66744..103580) None
    genomic HI635311.1 CBX55119.1
    genomic JA078072.1 CCA63951.1
    mRNA AB073354.1 None
    mRNA AF456477.1 None
    mRNA AK055986.1 BAB71065.1
    mRNA AK095802.1 BAG53132.1
    mRNA AK226139.1 None
    mRNA AK299658.1 BAG61575.1
    mRNA AK299704.1 BAG61605.1
    mRNA AW161357.1 None
    mRNA AW295014.1 None
    mRNA AY526356.1 AAS17881.1
    mRNA AY730549.1 AAU45390.1
    mRNA BC000558.2 AAH00558.1
    mRNA BC032572.1 None
    mRNA BC040444.1 None
    mRNA BC061892.1 None
    mRNA BC071830.1 None
    mRNA BC094805.1 None
    mRNA BC098281.1 AAH98281.1
    mRNA BC099721.1 AAH99721.1
    mRNA BC101936.1 AAI01937.1
    mRNA BC114504.1 AAI14505.1
    mRNA BC114948.1 AAI14949.1
    mRNA BI552187.1 None
    mRNA BN000503.1 CAG26750.1
    mRNA BT006772.1 AAP35418.1
    mRNA DN996935.1 None
    mRNA DR002467.1 None
    mRNA FJ429137.1 ACJ54951.1
    mRNA J03778.1 AAA60615.1
    mRNA M25298.1 AAA57264.1
    mRNA X14474.1 CAA32636.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P10636.5 GenPept UniProtKB/Swiss-Prot:P10636

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • 3D structures
        3D structure of a gene
      • BioAssay
        Related PubChem BioAssays
      • BioAssay, by Protein Target
        BioAssay, by Protein Target
      • BioProjects
        BioProjects related to a gene
      • BioSystems
        BioSystems
      • Books
        Links between Entrez Gene and 'Books' are established if a GeneID is explicitly referenced in a book.
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • ClinVar
        Related medical variations
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • GAP
        GAP Links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • GTR
        GTR associated with a gene
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • MedGen
        Related information in MedGen
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
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        Gene Genotype Report
      • SNP: VarView
        Related Clinical SNP
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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