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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]
HTT (Huntingtin) is a Protein Coding gene. Diseases associated with HTT include Huntington Disease and Lopes-Maciel-Rodan Syndrome. Among its related pathways are Neuroscience and Akt Signaling. Gene Ontology (GO) annotations related to this gene include identical protein binding and transcription factor binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002039 | p53 binding | IPI | 10823891 |
GO:0005515 | protein binding | IPI | 7477378 |
GO:0005522 | profilin binding | IPI | 18573880 |
GO:0019900 | kinase binding | IPI | 25686248 |
GO:0031072 | heat shock protein binding | IPI | 21909508 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005634 | nucleus | IMP | 17947297 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IMP | 17947297 |
GO:0005768 | endosome | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Neuroscience | ||
2 | PI3K / Akt Signaling | ||
3 | Parkinson disease | ||
4 | Akt Signaling |
Akt Signaling
.60
|
|
5 | fMLP Pathway |
Huntington's Disease Pathway
.31
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000132 | establishment of mitotic spindle orientation | IMP | 20696378 |
GO:0006890 | retrograde vesicle-mediated transport, Golgi to ER | IMP | 20515468 |
GO:0006915 | apoptotic process | IEA | -- |
GO:0007030 | Golgi organization | IMP | 20515468 |
GO:0031587 | positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity | IDA | 12873381 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HTT 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | HD 31 |
|
OneToOne | |
HTT 30 |
|
||||
Mouse (Mus musculus) |
Mammalia | Htt 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Htt 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | HTT 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | HTT 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | HTT 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | HTT 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | htt 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | htt 30 31 |
|
OneToOne | |
hd 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | htt 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
638462 | Uncertain Significance: not specified | 3,235,680(+) | C/T | MISSENSE_VARIANT | |
809611 | Likely Benign: not provided | 3,208,869(+) | C/T | SYNONYMOUS_VARIANT | |
871380 | Uncertain Significance: not provided | 3,142,801(+) | C/G | MISSENSE_VARIANT | |
871381 | Uncertain Significance: not provided | 3,186,690(+) | C/T | MISSENSE_VARIANT | |
916193 | Likely Benign: not provided | 3,208,881(+) | C/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2667257 | CNV | deletion | 23128226 |
esv2726869 | CNV | deletion | 23290073 |
esv2726870 | CNV | deletion | 23290073 |
esv3376417 | CNV | duplication | 20981092 |
esv3387920 | CNV | insertion | 20981092 |
esv3599421 | CNV | loss | 21293372 |
esv3599422 | CNV | loss | 21293372 |
esv8475 | CNV | loss | 19470904 |
nsv1123741 | CNV | deletion | 24896259 |
nsv461163 | CNV | gain | 19166990 |
nsv461164 | CNV | loss | 19166990 |
nsv470003 | CNV | loss | 18288195 |
nsv524211 | CNV | loss | 19592680 |
nsv593437 | CNV | gain | 21841781 |
nsv593439 | CNV | loss | 21841781 |
nsv949760 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
huntington disease |
|
|
lopes-maciel-rodan syndrome |
|
|
spinal and bulbar muscular atrophy, x-linked 1 |
|
|
dentatorubral-pallidoluysian atrophy |
|
|
spinocerebellar ataxia 1 |
|