HTT [The Human Chemical-Genetic Interaction Map Project]

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======= HTT =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: HTT
  * **<color #00a2e8>Official Name</color>**: huntingtin
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=3064|3064]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P42858|P42858]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=HTT&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20HTT|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/613004|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. A fairly broad range of trinucleotide repeats (9-35) has been identified in normal controls, and repeat numbers in excess of 40 have been described as pathological. The huntingtin locus is large, spanning 180 kb and consisting of 67 exons. The huntingtin gene is widely expressed and is required for normal development. It is expressed as 2 alternatively polyadenylated forms displaying different relative abundance in various fetal and adult tissues. The larger transcript is approximately 13.7 kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10.3 kb is more widely expressed. The genetic defect leading to Huntington's disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein. One candidate is the huntingtin-associated protein-1, highly expressed in brain, which has increased affinity for huntingtin protein with expanded polyglutamine repeats. This gene contains an upstream open reading frame in the 5' UTR that inhibits expression of the huntingtin gene product through translational repression. [provided by RefSeq, Jul 2016]. 
  * **<color #00a2e8>UniProt Summary</color>**:  May play a role in microtubule-mediated transport or vesicle function.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|DUF3652|
|HEAT|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|regulation of aggrephagy|
|positive regulation of aggrephagy|
|regulation of CAMKK-AMPK signaling cascade|
|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|
|regulation of lipophagy|
|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|
|positive regulation of lipophagy|
|vocal learning|
|imitative learning|
|observational learning|
|learned vocalization behavior or vocal learning|
|profilin binding|
|dynactin binding|
|auditory behavior|
|presynaptic cytosol|
|mechanosensory behavior|
|regulation of cAMP-dependent protein kinase activity|
|postsynaptic cytosol|
|inclusion body|
|positive regulation of autophagy of mitochondrion|
|positive regulation of cilium assembly|
|response to auditory stimulus|
|establishment of mitotic spindle orientation|
|dynein intermediate chain binding|
|establishment of mitotic spindle localization|
|establishment of spindle orientation|
|beta-tubulin binding|
|positive regulation of calcium ion transmembrane transporter activity|
|positive regulation of release of sequestered calcium ion into cytosol|
|regulation of autophagy of mitochondrion|
|positive regulation of calcium-mediated signaling|
|establishment of spindle localization|
|vesicle transport along microtubule|
|protein destabilization|
|spindle localization|
|vesicle cytoskeletal trafficking|
|positive regulation of calcium ion transport into cytosol|
|heat shock protein binding|
|p53 binding|
|positive regulation of macroautophagy|
|positive regulation of cation channel activity|
|autophagosome|
|positive regulation of calcium ion transmembrane transport|
|positive regulation of organelle assembly|
|regulation of release of sequestered calcium ion into cytosol|
|organelle transport along microtubule|
|regulation of cilium assembly|
|retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum|
|regulation of calcium ion transmembrane transporter activity|
|kinase binding|
|regulation of calcium-mediated signaling|
|regulation of calcium ion transport into cytosol|
|positive regulation of plasma membrane bounded cell projection assembly|
|negative regulation of extrinsic apoptotic signaling pathway|
|positive regulation of ion transmembrane transporter activity|
|microtubule cytoskeleton organization involved in mitosis|
|positive regulation of transporter activity|
|positive regulation of mitochondrion organization|
|regulation of phosphoprotein phosphatase activity|
|establishment of cell polarity|
|positive regulation of autophagy|
|positive regulation of calcium ion transport|
|regulation of sequestering of calcium ion|
|ion channel binding|
|late endosome|
|Golgi organization|
|regulation of protein dephosphorylation|
|positive regulation of cation transmembrane transport|
|centriole|
|cytoplasmic vesicle membrane|
|learning|
|regulation of calcium ion transmembrane transport|
|regulation of extrinsic apoptotic signaling pathway|
|positive regulation of ion transmembrane transport|
|transport along microtubule|
|regulation of cation channel activity|
|regulation of macroautophagy|
|establishment of vesicle localization|
|cytoskeleton-dependent intracellular transport|
|regulation of phosphatase activity|
|regulation of mitochondrion organization|
|microtubule-based transport|
|vesicle localization|
|establishment or maintenance of cell polarity|
|regulation of plasma membrane bounded cell projection assembly|
|positive regulation of transmembrane transport|
|regulation of cell projection assembly|
|regulation of dephosphorylation|
|response to mechanical stimulus|
|regulation of organelle assembly|
|negative regulation of apoptotic signaling pathway|
|regulation of calcium ion transport|
|regulation of ion transmembrane transporter activity|
|learning or memory|
|regulation of transmembrane transporter activity|
|microtubule-based movement|
|positive regulation of ion transport|
|regulation of transporter activity|
|positive regulation of cytosolic calcium ion concentration|
|regulation of protein stability|
|axon|
|cognition|
|regulation of cytosolic calcium ion concentration|
|regulation of autophagy|
|regulation of cation transmembrane transport|
|establishment of organelle localization|
|positive regulation of cellular catabolic process|
|Golgi vesicle transport|
|positive regulation of cell projection organization|
|regulation of metal ion transport|
|regulation of apoptotic signaling pathway|
|endomembrane system organization|
|dendrite|
|positive regulation of catabolic process|
|cellular calcium ion homeostasis|
|calcium ion homeostasis|
|cellular divalent inorganic cation homeostasis|
|microtubule cytoskeleton organization|
|regulation of ion transmembrane transport|
|divalent inorganic cation homeostasis|
|regulation of protein serine/threonine kinase activity|
|positive regulation of cellular component biogenesis|
|cellular metal ion homeostasis|
|regulation of transmembrane transport|
|behavior|
|organelle localization|
|protein-containing complex|
|mitotic cell cycle process|
|positive regulation of organelle organization|
|metal ion homeostasis|
|cellular cation homeostasis|
|positive regulation of apoptotic process|
|cellular ion homeostasis|
|positive regulation of programmed cell death|
|microtubule-based process|
|mitotic cell cycle|
|regulation of plasma membrane bounded cell projection organization|
|positive regulation of cell death|
|perinuclear region of cytoplasm|
|regulation of ion transport|
|cation homeostasis|
|regulation of cell projection organization|
|inorganic ion homeostasis|
|cellular chemical homeostasis|
|ion homeostasis|
|regulation of protein kinase activity|
|regulation of cellular catabolic process|
|regulation of kinase activity|
|negative regulation of apoptotic process|
|cellular homeostasis|
|negative regulation of programmed cell death|
|regulation of cellular localization|
|apoptotic process|
|regulation of cellular component biogenesis|
|regulation of transferase activity|
|Golgi apparatus|
|positive regulation of transport|
|regulation of catabolic process|
|negative regulation of cell death|
|cell cycle process|
|endoplasmic reticulum|
|positive regulation of intracellular signal transduction|
|programmed cell death|
|identical protein binding|
|cell death|
|cytoskeleton organization|
|chemical homeostasis|
|response to abiotic stimulus|
|positive regulation of cellular component organization|
|negative regulation of signal transduction|
|regulation of hydrolase activity|
|regulation of organelle organization|
|cell cycle|
|negative regulation of cell communication|
|negative regulation of signaling|
|nervous system process|
|regulation of protein phosphorylation|
|intracellular transport|
|regulation of apoptotic process|
|movement of cell or subcellular component|
|regulation of programmed cell death|
|regulation of phosphorylation|
|negative regulation of response to stimulus|
|homeostatic process|
|positive regulation of signal transduction|
|regulation of cell death|
|positive regulation of molecular function|
|regulation of phosphate metabolic process|
|regulation of phosphorus metabolic process|
|positive regulation of cell communication|
|positive regulation of signaling|
|regulation of intracellular signal transduction|
|establishment of localization in cell|
|regulation of protein modification process|
|regulation of transport|
|vesicle-mediated transport|
|system process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp68|Clomiphene 4.4μM R02 exp68]]|-2.64|
|[[:results:exp169|BH1 1μM R04 exp169]]|-2.44|
|[[:results:exp454|Bafilomycin-A1 0.009μM R08 exp454]]|-2.13|
|[[:results:exp79|Q15 2.7μM R02 exp79]]|-1.96|
|[[:results:exp89|Vemurafenib 6.6μM R02 exp89]]|-1.93|
|[[:results:exp432|YM155 0.001μM R08 exp432]]|-1.85|
|[[:results:exp470|Chloroquine 32μM R08 exp470]]|-1.8|
|[[:results:exp434|Vemurafenib 6.6μM R08 exp434]]|-1.75|
|[[:results:exp447|Amiloride 100μM R08 exp447]]|1.75|
|[[:results:exp524|Staurosporine 0.02μM R08 exp524]]|2.01|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:f:f8a1|F8A1]]|0.602|
|[[:human genes:f:f8a2|F8A2]]|0.602|
|[[:human genes:f:f8a3|F8A3]]|0.602|
|[[:human genes:s:scap|SCAP]]|0.443|
|[[:human genes:c:chka|CHKA]]|0.428|
|[[:human genes:r:ralgapb|RALGAPB]]|0.422|
|[[:human genes:g:get4|GET4]]|0.421|
|[[:human genes:v:vma21|VMA21]]|0.418|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 1/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|1/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 3738
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 7.29 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='HTT Expression in NALM6 Cells: 7.29'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>