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p(HGNC:HTT, var("?"))

Equivalencies: 0 | Classes: 0 | Children: 0 | Explore

Entity

Name
HTT
Namespace
hgnc
Namespace Version
20180906
Namespace URL
https://raw.githubusercontent.com/pharmacome/terminology/b46b65c3da259b6e86026514dfececab7c22a11b/external/hgnc-names.belns

Appears in Networks 4

The Ubiquitin Proteasome System in Neurodegenerative Diseases: Sometimes the Chicken, Sometimes the Egg v1.0.0

The Biology of Proteostasis in Aging and Disease v1.0.0

Promoting the clearance of neurotoxic proteins in neurodegenerative disorders of ageing v1.0.0

New insights into the role of microRNAs and long noncoding RNAs in most common neurodegenerative diseases v1.0.0

In-Edges 7

p(HGNC:HTT) hasVariant p(HGNC:HTT, var("?")) View Subject | View Object

Appears in Networks:

a(CHEBI:Calpeptin) increases deg(p(HGNC:HTT, var("?"))) View Subject | View Object

Calpeptin, a cell-permeable calpain inhibitor, can also reduce Htt proteinopathy via induction of autophagy 103,105 . PubMed:30116051

Appears in Networks:
Annotations
MeSH
Dopaminergic Neurons
MeSH
Huntington Disease

a(PUBCHEM:54708532) increases deg(p(HGNC:HTT, var("?"))) View Subject | View Object

Another direct facilitator of AMPK, A769662, elicited autophagy and reduced the burden of Htt in a striatal cell line derived from knock-in mice expressing a humanized form of mutant Htt (exon 1 containing seven polyglutamine repeats) 111 . PubMed:30116051

Appears in Networks:
Annotations
MeSH
Dopaminergic Neurons

bp(GO:autophagy) increases deg(p(HGNC:HTT, var("?"))) View Subject | View Object

Mutant Htt is cleared by autophagy, but it compromises the ALN because of decreased cargo load- ing and impaired autophagosome formation and trans- port 55,56,68,92 . PubMed:30116051

Appears in Networks:
Annotations
MeSH
Dopaminergic Neurons
MeSH
Huntington Disease

p(HGNC:CAPN1) decreases deg(p(HGNC:HTT, var("?"))) View Subject | View Object

Genetic knockdown of calpain 1 or calpain 2 or overexpression of their endogenous inhibitor, calpastatin, increased autophagy and cleared aggregates in SK-N-SH cells overexpressing a mutant form of Htt 103 . PubMed:30116051

Appears in Networks:
Annotations
MeSH
Dopaminergic Neurons
MeSH
Huntington Disease

p(HGNC:CAPN2) decreases deg(p(HGNC:HTT, var("?"))) View Subject | View Object

Genetic knockdown of calpain 1 or calpain 2 or overexpression of their endogenous inhibitor, calpastatin, increased autophagy and cleared aggregates in SK-N-SH cells overexpressing a mutant form of Htt 103 . PubMed:30116051

Appears in Networks:
Annotations
MeSH
Dopaminergic Neurons
MeSH
Huntington Disease

p(HGNC:CAST) increases deg(p(HGNC:HTT, var("?"))) View Subject | View Object

Genetic knockdown of calpain 1 or calpain 2 or overexpression of their endogenous inhibitor, calpastatin, increased autophagy and cleared aggregates in SK-N-SH cells overexpressing a mutant form of Htt 103 . PubMed:30116051

Appears in Networks:
Annotations
MeSH
Dopaminergic Neurons
MeSH
Huntington Disease

Out-Edges 14

p(HGNC:HTT, var("?")) increases path(MESH:"Huntington Disease") View Subject | View Object

The disease is caused by a mutation in the gene coding for Huntingtin—a protein of hitherto unknown function, although it has been recently implicated in the control of gene transcription (Zuccato et al., 2003). PubMed:14556719

Appears in Networks:

p(HGNC:HTT, var("?")) increases a(HBP:"huntingtin aggregates") View Subject | View Object

However, a contribution to the pathogenesis by loss of function of Huntingtin encoded from the wild-type allele has not been excluded in HD (Cattaneo et al., 2001), since the mutant protein not only aggregates itself but can also promote aggregation of the wild-type protein (Busch et al.,2003). PubMed:14556719

Appears in Networks:

p(HGNC:HTT, var("?")) decreases bp(GO:"proteasome-mediated ubiquitin-dependent protein catabolic process") View Subject | View Object

Another study has also demonstrated that UPS inhibition is only revealed under conditions of increased stress in cells expressing mutant Huntingtin (Ding et al., 2002) PubMed:14556719

Appears in Networks:

p(HGNC:HTT, var("?")) decreases act(p(HBP:"20 S Proteasome")) View Subject | View Object

A study in cultured mouse neuroblastoma cells showed that N-terminal mutant Huntingtin inhibited the 20S proteasome catalytic activity, in turn causing impaired proteasomal degradation of p53, subsequent loss of mitochondrial membrane potential, release of cytochrome c, caspase activation, and apoptosis (Jana et al., 2001) (Figure 2). PubMed:14556719

Appears in Networks:

p(HGNC:HTT, var("?")) decreases deg(p(HGNC:TP53)) View Subject | View Object

A study in cultured mouse neuroblastoma cells showed that N-terminal mutant Huntingtin inhibited the 20S proteasome catalytic activity, in turn causing impaired proteasomal degradation of p53, subsequent loss of mitochondrial membrane potential, release of cytochrome c, caspase activation, and apoptosis (Jana et al., 2001) (Figure 2). PubMed:14556719

Appears in Networks:

p(HGNC:HTT, var("?")) decreases bp(MESH:"Membrane Potential, Mitochondrial") View Subject | View Object

A study in cultured mouse neuroblastoma cells showed that N-terminal mutant Huntingtin inhibited the 20S proteasome catalytic activity, in turn causing impaired proteasomal degradation of p53, subsequent loss of mitochondrial membrane potential, release of cytochrome c, caspase activation, and apoptosis (Jana et al., 2001) (Figure 2). PubMed:14556719

Appears in Networks:

p(HGNC:HTT, var("?")) increases sec(a(CHEBI:"cytochrome c")) View Subject | View Object

A study in cultured mouse neuroblastoma cells showed that N-terminal mutant Huntingtin inhibited the 20S proteasome catalytic activity, in turn causing impaired proteasomal degradation of p53, subsequent loss of mitochondrial membrane potential, release of cytochrome c, caspase activation, and apoptosis (Jana et al., 2001) (Figure 2). PubMed:14556719

Appears in Networks:

p(HGNC:HTT, var("?")) increases act(p(FPLX:Caspase)) View Subject | View Object

A study in cultured mouse neuroblastoma cells showed that N-terminal mutant Huntingtin inhibited the 20S proteasome catalytic activity, in turn causing impaired proteasomal degradation of p53, subsequent loss of mitochondrial membrane potential, release of cytochrome c, caspase activation, and apoptosis (Jana et al., 2001) (Figure 2). PubMed:14556719

Appears in Networks:

p(HGNC:HTT, var("?")) increases bp(GO:"apoptotic process") View Subject | View Object

A study in cultured mouse neuroblastoma cells showed that N-terminal mutant Huntingtin inhibited the 20S proteasome catalytic activity, in turn causing impaired proteasomal degradation of p53, subsequent loss of mitochondrial membrane potential, release of cytochrome c, caspase activation, and apoptosis (Jana et al., 2001) (Figure 2). PubMed:14556719

Appears in Networks:

p(HGNC:HTT, var("?")) increases p(FPLX:HSPA) View Subject | View Object

Cerebellar granular neurons were found to express high levels of HSP70 in response to mHTT expression but not mAtaxin-1. PubMed:25784053

Appears in Networks:
Annotations
Cell Ontology (CL)
cerebellar granule cell

p(HGNC:HTT, var("?")) decreases bp(GO:"cargo loading into vesicle") View Subject | View Object

Mutant Htt is cleared by autophagy, but it compromises the ALN because of decreased cargo load- ing and impaired autophagosome formation and trans- port 55,56,68,92 . PubMed:30116051

Appears in Networks:
Annotations
MeSH
Dopaminergic Neurons
MeSH
Huntington Disease

p(HGNC:HTT, var("?")) decreases bp(GO:autophagy) View Subject | View Object

Mutant Htt is cleared by autophagy, but it compromises the ALN because of decreased cargo load- ing and impaired autophagosome formation and trans- port 55,56,68,92 . PubMed:30116051

Appears in Networks:
Annotations
MeSH
Dopaminergic Neurons
MeSH
Huntington Disease

p(HGNC:HTT, var("?")) decreases bp(GO:"autophagosome assembly") View Subject | View Object

Mutant Htt is cleared by autophagy, but it compromises the ALN because of decreased cargo load- ing and impaired autophagosome formation and trans- port 55,56,68,92 . PubMed:30116051

Appears in Networks:
Annotations
MeSH
Dopaminergic Neurons
MeSH
Huntington Disease

p(HGNC:HTT, var("?")) increases path(MESH:"Huntington Disease") View Subject | View Object

This disease is inherited by autosomal dominant alleles due to a mutation in the huntingtin gene (HTT). PubMed:30663117

Appears in Networks:
Annotations
MeSH
Huntington Disease

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BEL Commons is developed and maintained in an academic capacity by Charles Tapley Hoyt and Daniel Domingo-Fernández at the Fraunhofer SCAI Department of Bioinformatics with support from the IMI project, AETIONOMY. It is built on top of PyBEL, an open source project. Please feel free to contact us here to give us feedback or report any issues. Also, see our Publishing Notes and Data Protection information.

If you find BEL Commons useful in your work, please consider citing: Hoyt, C. T., Domingo-Fernández, D., & Hofmann-Apitius, M. (2018). BEL Commons: an environment for exploration and analysis of networks encoded in Biological Expression Language. Database, 2018(3), 1–11.