HCSGD entry for HTT

1. General information

Official gene symbolHTT
Entrez ID3064
Gene full namehuntingtin
Other gene symbolsHD IT15
Links to Entrez GeneLinks to Entrez Gene

2. Neighbors in the network

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This gene isn't in Literature mining network.

3. Gene ontology annotation

GO ID

GO term

Evidence

Category

GO:0000050Urea cycleIEAbiological_process
GO:0000052Citrulline metabolic processIEAbiological_process
GO:0000132Establishment of mitotic spindle orientationIMPbiological_process
GO:0002039P53 bindingIPImolecular_function
GO:0005515Protein bindingIPImolecular_function
GO:0005634NucleusIDA IEAcellular_component
GO:0005730NucleolusIDAcellular_component
GO:0005737CytoplasmIDA IEAcellular_component
GO:0005739MitochondrionIEAcellular_component
GO:0005770Late endosomeIDAcellular_component
GO:0005776Autophagic vacuoleIDAcellular_component
GO:0005783Endoplasmic reticulumIDAcellular_component
GO:0005794Golgi apparatusIDAcellular_component
GO:0005829CytosolIDAcellular_component
GO:0006606Protein import into nucleusIEAbiological_process
GO:0006888ER to Golgi vesicle-mediated transportIEAbiological_process
GO:0006890Retrograde vesicle-mediated transport, Golgi to ERIMPbiological_process
GO:0007029Endoplasmic reticulum organizationIEAbiological_process
GO:0007030Golgi organizationIMPbiological_process
GO:0007212Dopamine receptor signaling pathwayIEAbiological_process
GO:0007283SpermatogenesisIEAbiological_process
GO:0007569Cell agingIEAbiological_process
GO:0007625Grooming behaviorIEAbiological_process
GO:0007626Locomotory behaviorIEAbiological_process
GO:0008088Axon cargo transportIEAbiological_process
GO:0008134Transcription factor bindingIBAmolecular_function
GO:0008340Determination of adult lifespanIEAbiological_process
GO:0008542Visual learningIEAbiological_process
GO:0009952Anterior/posterior pattern specificationIEAbiological_process
GO:0016197Endosomal transportIEAbiological_process
GO:0016234Inclusion bodyIEAcellular_component
GO:0019244Lactate biosynthetic process from pyruvateIEAbiological_process
GO:0019805Quinolinate biosynthetic processIEAbiological_process
GO:0021756Striatum developmentIEAbiological_process
GO:0021988Olfactory lobe developmentIEAbiological_process
GO:0021990Neural plate formationIEAbiological_process
GO:0030073Insulin secretionIEAbiological_process
GO:0030424AxonIDAcellular_component
GO:0030425DendriteIDAcellular_component
GO:0030659Cytoplasmic vesicle membraneIDAcellular_component
GO:0034047Regulation of protein phosphatase type 2A activityIMPbiological_process
GO:0034452Dynactin bindingIPImolecular_function
GO:0035176Social behaviorIEAbiological_process
GO:0042445Hormone metabolic processIEAbiological_process
GO:0042802Identical protein bindingIPImolecular_function
GO:0043234Protein complexIDAcellular_component
GO:0043524Negative regulation of neuron apoptotic processIEAbiological_process
GO:0045505Dynein intermediate chain bindingIDAmolecular_function
GO:0046825Regulation of protein export from nucleusIMPbiological_process
GO:0046902Regulation of mitochondrial membrane permeabilityIEAbiological_process
GO:0047496Vesicle transport along microtubuleIMPbiological_process
GO:0048167Regulation of synaptic plasticityIEAbiological_process
GO:0048341Paraxial mesoderm formationIEAbiological_process
GO:0048487Beta-tubulin bindingIDAmolecular_function
GO:0048513Organ developmentIBAbiological_process
GO:0048666Neuron developmentIEAbiological_process
GO:0050809Diazepam bindingIEAmolecular_function
GO:0051402Neuron apoptotic processIEAbiological_process
GO:0051592Response to calcium ionIEAbiological_process
GO:0051881Regulation of mitochondrial membrane potentialIEAbiological_process
GO:0051938L-glutamate importIEAbiological_process
GO:0055072Iron ion homeostasisIEAbiological_process
GO:2001237Negative regulation of extrinsic apoptotic signaling pathwayIMPbiological_process
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4. Expression levels in datasets

  • Meta-analysis result

p-value upp-value downFDR upFDR down
0.05903909430.75508342390.52663012541.0000000000

  • Individual experiment result
    ( "-" represent NA in the specific microarray platform )

Data sourceUp or downLog fold change
GSE11954Up0.0249646198
GSE13712_SHEARDown-0.3595250202
GSE13712_STATICUp0.0691541952
GSE19018Up0.0858878996
GSE19899_A1Up0.0230165512
GSE19899_A2Up0.2871187676
PubMed_21979375_A1Down-0.0964947277
PubMed_21979375_A2Up0.7239149583
GSE35957Up0.0013484083
GSE36640Up0.3245725980
GSE54402Up0.1575326931
GSE9593Up0.3110000323
GSE43922Up0.5730066471
GSE24585Down-0.1167647411
GSE37065Down-0.1237584154
GSE28863_A1Up1.0585432598
GSE28863_A2Up0.9852079708
GSE28863_A3Down-0.5715133620
GSE28863_A4Down-0.3389177107
GSE48662Up0.0227752378

5. Regulation relationships with compounds/drugs/microRNAs

  • Compounds

Not regulated by compounds

  • Drugs

Not regulated by drugs

  • MicroRNAs

  • mirTarBase

MiRNA_name

mirBase ID

miRTarBase ID

Experiment

Support type

References (Pubmed ID)

hsa-miR-26b-5pMIMAT0000083MIRT030052MicroarrayFunctional MTI (Weak)19088304
hsa-miR-421MIMAT0003339MIRT039425CLASHFunctional MTI (Weak)23622248
hsa-miR-324-5pMIMAT0000761MIRT043119CLASHFunctional MTI (Weak)23622248
hsa-miR-106b-5pMIMAT0000680MIRT044299CLASHFunctional MTI (Weak)23622248
hsa-miR-17-5pMIMAT0000070MIRT050823CLASHFunctional MTI (Weak)23622248
hsa-miR-16-5pMIMAT0000069MIRT051257CLASHFunctional MTI (Weak)23622248
hsa-let-7b-5pMIMAT0000063MIRT052338CLASHFunctional MTI (Weak)23622248
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  • mirRecord
No target information from mirRecord

6. Text-mining results about the gene

Gene occurances in abstracts of cellular senescence-associated articles: 3 abstracts the gene occurs.


PubMed ID of the article

Sentenece the gene occurs

27080129BACKGROUND: Huntington's disease (HD) is an incurable hereditary neurodegenerative disorder, which manifests itself as a loss of GABAergic medium spiny (GABA MS) neurons in the striatum and caused by an expansion of the CAG repeat in exon 1 of the huntingtin gene
27080129RESULTS: Here, induced pluripotent stem cells were established from patients with low CAG repeat expansion in the huntingtin gene, and were then efficiently differentiated into GABA MS-like neurons (GMSLNs) under defined culture conditions
27080129The generated HD GMSLNs recapitulated disease pathology in vitro, as evidenced by mutant huntingtin protein aggregation, increased number of lysosomes/autophagosomes, nuclear indentations, and enhanced neuronal death during cell aging
27080129CONCLUSIONS: Our data is the first to demonstrate the direct link of nuclear morphology and SOC calcium deregulation to mutant huntingtin protein expression in iPSCs-derived neurons with disease-mimetic hallmarks, providing a valuable tool for identification of candidate anti-HD drugs
16403806Huntingtin (htt), the protein encoded by the Huntington's disease (HD) gene, contains a polymorphic stretch of glutamines (polyQ) near its N-terminus
15834659Studies using proteins relevant to multiple neurodegenerative conditions (prion, alpha-synuclein, huntingtin) have demonstrated the utility of S
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