retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum
Golgi organization
vesicle transport along microtubule
negative regulation of extrinsic apoptotic signaling pathway
establishment of mitotic spindle orientation
positive regulation of cilium assembly
positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity
apoptotic process
vocal learning
positive regulation of lipophagy
positive regulation of autophagy of mitochondrion
positive regulation of aggrephagy
regulation of phosphoprotein phosphatase activity
protein destabilization
positive regulation of apoptotic process
regulation of CAMKK-AMPK signaling cascade
regulation of cAMP-dependent protein kinase activity
Sources:Amigo / QuickGO
Orthologs
Species
Human
Mouse
Entrez
3064
15194
Ensembl
ENSG00000197386
ENSMUSG00000029104
UniProt
P42858
P42859
RefSeq (mRNA)
NM_002111 NM_001388492
NM_010414
RefSeq (protein)
NP_002102
NP_034544
Location (UCSC)
Chr 4: 3.04 – 3.24 Mb
Chr 5: 34.92 – 35.07 Mb
PubMed search
[3]
[4]
Wikidata
View/Edit Human
View/Edit Mouse
Huntingtin(Htt) is the protein coded for in humans by the HTT gene, also known as the IT15 ("interesting transcript 15") gene.[5] Mutated HTT is the cause of Huntington's disease (HD), and has been investigated for this role and also for its involvement in long-term memory storage.[6]
It is variable in its structure, as the many polymorphisms of the gene can lead to variable numbers of glutamine residues present in the protein. In its wild-type (normal) form, the polymorphic locus contains 6-35 glutamine residues. However, in individuals affected by Huntington's disease (an autosomal dominant genetic disorder), the polymorphic locus contains more than 36 glutamine residues (highest reported repeat length is about 250).[7] Its commonly used name is derived from this disease; previously, the IT15 label was commonly used.
The mass of huntingtin protein is dependent largely on the number of glutamine residues it has; the predicted mass is around 350 kDa. Normal huntingtin is generally accepted to be 3144 amino acids in size. The exact function of this protein is not known, but it plays an important role in nerve cells. Within cells, huntingtin may or may not be involved in signaling, transporting materials, binding proteins and other structures, and protecting against apoptosis, a form of programmed cell death. The huntingtin protein is required for normal development before birth.[8] It is expressed in many tissues in the body, with the highest levels of expression seen in the brain.
^ abcGRCh38: Ensembl release 89: ENSG00000197386 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000029104 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^The Huntington's Disease Collaborative Research Group (Mar 1993). "A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group" (PDF). Cell. 72 (6): 971–83. doi:10.1016/0092-8674(93)90585-E. hdl:2027.42/30901. PMID 8458085. S2CID 802885. Archived from the original on 2020-03-13. Retrieved 2019-08-29.
^Choi YB, Kadakkuzha BM, Liu XA, Akhmedov K, Kandel ER, Puthanveettil SV (July 23, 2014). "Huntingtin is critical both pre- and postsynaptically for long-term learning-related synaptic plasticity in Aplysia". PLOS ONE. 9 (7): e103004. Bibcode:2014PLoSO...9j3004C. doi:10.1371/journal.pone.0103004. PMC 4108396. PMID 25054562.
^Nance MA, Mathias-Hagen V, Breningstall G, Wick MJ, McGlennen RC (Jan 1999). "Analysis of a very large trinucleotide repeat in a patient with juvenile Huntington's disease". Neurology. 52 (2): 392–4. doi:10.1212/wnl.52.2.392. PMID 9932964. S2CID 33091017. Archived from the original on 2009-05-05. Retrieved 2009-05-02.
^Nasir J, Floresco SB, O'Kusky JR, Diewert VM, Richman JM, Zeisler J, Borowski A, Marth JD, Phillips AG, Hayden MR (Jun 1995). "Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes". Cell. 81 (5): 811–23. doi:10.1016/0092-8674(95)90542-1. PMID 7774020. S2CID 16835259.
Huntingtin (Htt) is the protein coded for in humans by the HTT gene, also known as the IT15 ("interesting transcript 15") gene. Mutated HTT is the cause...
Huntingtin Interacting Protein (HIP) may refer to: HIP1 (Huntingtin-interacting protein 1) HIP1R (Huntingtin-interacting protein 1 related protein) HIP2...
results from a mutation in the huntingtin gene that causes an excess of CAG repeats. The gene then forms a mutated huntingtin protein with polyglutamine repeats...
affecting the central nervous system HD (gene) or huntingtin, the IT15 gene, which codes for the huntingtin protein H.D. or Hilda Doolittle (1886–1961), American...
and ATP-competitive inhibitors. Huntingtin protein co-localizes with ATM repair protein at sites of DNA damage. Huntingtin is a scaffolding protein in the...
a large region at the N terminus of huntingtin. This interaction is not influenced by the length of the huntingtin polyglutamine tract. This protein has...
repeats in exons or introns can cause disease. For example, the human gene huntingtin (Htt) typically contains 6–29 tandem repeats of the nucleotides CAG (encoding...
polyglutamine tract expansion in the huntingtin gene, resulting in the mutant huntingtin. Aggregates of mutant huntingtin form as inclusion bodies in neurons...
foster neuroexcitotoxicity". Counteracting huntingtin toxicity, SGK1 has been found to phosphorylate huntingtin. "Genomic upregulation of SGK1 coincides...
Kalirin, also known as Huntingtin-associated protein-interacting protein (HAPIP), protein duo (DUO), or serine/threonine-protein kinase with Dbl- and pleckstrin...
regulation of autophagosome dynamics by huntingtin and HAP1 is disrupted by expression of mutant huntingtin, leading to defective cargo degradation"...
neurodegenerative disease caused by mutations in a single gene HTT, that encodes for huntingtin protein. Symptoms include cognitive impairment and this usually declines...
expansion of a polyglutamine tract in the HD protein huntingtin. SETD2 belongs to a class of huntingtin interacting proteins characterized by WW motifs. GRCh38:...
results from an expansion of the trinucleotide repeat (CAG)n within the Huntingtin gene on human chromosome 4. Telomeres (the ends of linear chromosomes)...
apoptosis. There are reports that indicate amyloid polymers (such as those of huntingtin, associated with Huntington's disease) can induce the polymerization of...
WJ, Olejniczak M (2018). "Precise Excision of the CAG Tract from the Huntingtin Gene by Cas9 Nickases". Frontiers in Neuroscience. 12: 75. doi:10.3389/fnins...
individuals with a certain excess of repeats (27–39) of the CAG codon in the Huntingtin gene may not have the disease but are more likely to have a child with...
encoded by the ZDHHC17 gene. ZDHHC17 has been shown to interact with Huntingtin. GRCh38: Ensembl release 89: ENSG00000186908 – Ensembl, May 2017 GRCm38:...
the mutant huntingtin protein in mice using insertion of a bacterial artificial chromosome expressing the full-length human mutant huntingtin gene. The...
(September 2004). "A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease". Molecular Cell. 15 (6): 853–65...
China Human Terrain Team of the United States Army The gene that encodes Huntingtin Hybrid turbocharger Hyper-threading Hyperloop Transportation Technologies...
T, Hamby A, Massa SM (August 2005). "Clioquinol down-regulates mutant huntingtin expression in vitro and mitigates pathology in a Huntington's disease...
and transcription activation through its interactions with the RAB8, huntingtin, and transcription factor IIIA proteins. Alternative splicing results...
Global Information
