Huntingtin (HTT)
The protein contains 3142 amino acids for an estimated molecular weight of 347603 Da.
May play a role in microtubule-mediated transport or vesicle function.', 'Promotes the formation of autophagic vesicles. (updated: Dec. 11, 2019)
Protein identification was indicated in the following studies:
- Goodman and co-workers. (2013) The proteomics and interactomics of human erythrocytes. Exp Biol Med (Maywood) 238(5), 509-518.
- Hegedűs and co-workers. (2015) Inconsistencies in the red blood cell membrane proteome analysis: generation of a database for research and diagnostic applications. Database (Oxford) 1-8.
- Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
- D'Alessandro and co-workers. (2017) Red blood cell proteomics update: is there more to discover? Blood Transfus. 15(2), 182-187.
- Chu and co-workers. (2018) Quantitative mass spectrometry of human reticulocytes reveal proteome-wide modifications during maturation. Br J Haematol. 180(1), 118-133.
Methods
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
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Biological Process
Animal organ development
Anterior/posterior pattern specification
Apoptotic process
Axo-dendritic transport
Cell aging
Citrulline metabolic process
Determination of adult lifespan
Dopamine receptor signaling pathway
Endoplasmic reticulum organization
Endoplasmic reticulum to Golgi vesicle-mediated transport
Endosomal transport
Establishment of mitotic spindle orientation
Golgi organization
Grooming behavior
Hormone metabolic process
Insulin secretion
Iron ion homeostasis
L-glutamate import
Lactate biosynthetic process from pyruvate
Locomotory behavior
Microtubule-based transport
Negative regulation of extrinsic apoptotic signaling pathway
Negative regulation of neuron apoptotic process
Neural plate formation
Neuron apoptotic process
Neuron development
Olfactory lobe development
Paraxial mesoderm formation
Positive regulation of aggrephagy
Positive regulation of apoptotic process
Positive regulation of autophagy of mitochondrion
Positive regulation of cilium assembly
Positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity
Positive regulation of lipophagy
Protein destabilization
Protein import into nucleus
Quinolinate biosynthetic process
Regulation of CAMKK-AMPK signaling cascade
Regulation of cAMP-dependent protein kinase activity
Regulation of mitochondrial membrane permeability
Regulation of mitochondrial membrane potential
Regulation of phosphoprotein phosphatase activity
Regulation of protein phosphatase type 2A activity
Regulation of synaptic plasticity
Response to calcium ion
Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum
Social behavior
Spermatogenesis
Striatum development
Urea cycle
Vesicle transport along microtubule
Visual learning
Vocal learning
Cellular Component
Autophagosome
Axon
Centriole
Cytoplasm
Cytoplasmic vesicle membrane
Cytosol
Dendrite
Early endosome
Endoplasmic reticulum
Golgi apparatus
Inclusion body
Late endosome
Mitochondrion
Nucleoplasm
Nucleus
Obsolete cell
Perinuclear region of cytoplasm
Postsynaptic cytosol
Presynaptic cytosol
Protein complex
Protein-containing complex
The reference OMIM entry for this protein is 143100
Huntington disease; hd
Huntington chorea
A number sign (#) is used with this entry because Huntington disease (HD) is caused by an expanded trinucleotide repeat (CAG)n, encoding glutamine, in the gene encoding huntingtin (HTT; 613004) on chromosome 4p16. In normal individuals, the range of repeat numbers is 9 to 36. In those with HD, the repeat number is above 37 (Duyao et al., 1993).
DESCRIPTION
Huntington disease (HD) is an autosomal dominant progressive neurodegenerative disorder with a distinct phenotype characterized by chorea, dystonia, incoordination, cognitive decline, and behavioral difficulties. There is progressive, selective neural cell loss and atrophy in the caudate and putamen. Walker (2007) provided a detailed review of Huntington disease, including clinical features, population genetics, molecular biology, and animal models.CLINICAL FEATURES
The classic signs of Huntington disease are progressive chorea, rigidity, and dementia. A characteristic atrophy of the caudate nucleus is seen radiographically. Typically, there is a prodromal phase of mild psychotic and behavioral symptoms which precedes frank chorea by up to 10 years. Chandler et al. (1960) observed that the age of onset was between 30 and 40 years. In a study of 196 kindreds, Reed and Neel (1959) found only 8 in which both parents of a single patient with Huntington chorea were 60 years of age or older and normal. The clinical features developed progressively with severe increase in choreic movements and dementia. The disease terminated in death on average 17 years after manifestation of the first symptoms. Folstein et al. (1984, 1985) contrasted HD in 2 very large Maryland pedigrees: an African American family residing in a bayshore tobacco farming community and a white Lutheran family living in a farming community in the western Maryland foothills and descended from an immigrant from Germany. They differed, respectively, in age at onset (33 years vs 50 years), presence of manic-depressive symptoms (2 vs 75), number of cases of juvenile onset (6 vs 0), mode of onset (abnormal gait vs psychiatric symptoms), and frequency of rigidity or akinesia (5/21 vs 1/15). In the African American family, the mean age at onset was 25 years when the father was affected and 41 years when the mother was affected; the corresponding figures in the white family were 49 and 52 years. Allelic mutations were postulated. In another survey in Maryland, Folstein et al. (1987) found that the prevalence of HD among African Americans was equal to that in whites. Adams et al. (1988) found that life-table estimates of age of onset of motor symptoms have produced a median age 5 years older than the observed mean when correction for truncated intervals of observation (censoring) was made. The bias of censoring refers to the variable intervals of observation and loss to observation at different ages. For example, gene carriers lost to follow-up, those deceased before onset of disease, and those who had not yet manifested the disease at the time of data collection were excluded from the observed distribution of age at onset. Kerbeshian et al. (1991) described a patient with childhood-onset Tourette syndrome (137580) who later developed Huntington disease. Shiwach (1994) performed a retrospective study of 110 patients with Huntington disease in 30 families. He found the minimal lifetime prevalence of depression to be 39%. The frequency of symptomatic schizophrenia was 9%, and significant personality change was foun ... More on the omim web site
Jan. 22, 2020: Protein entry updated
Automatic update: Entry updated from uniprot information.
July 4, 2019: Protein entry updated
Automatic update: Entry updated from uniprot information.
Feb. 2, 2018: Protein entry updated
Automatic update: Uniprot description updated
Dec. 19, 2017: Protein entry updated
Automatic update: Uniprot description updated
Nov. 23, 2017: Protein entry updated
Automatic update: Uniprot description updated
March 16, 2016: Protein entry updated
Automatic update: OMIM entry 143100 was added.