Htt - huntingtin Gene
Also Known as Hd; Hdh; IT15; C430023I11Rik
Species: Mus musculus
Summary
Enables diazepam binding activity. Involved in several processes, including postsynapse to nucleus signaling pathway; regulation of cAMP-dependent protein kinase activity; and regulation of protein localization to nucleus. Acts upstream of or within several processes, including carboxylic acid metabolic process; positive regulation of cilium assembly; and transport along microtubule. Located in several cellular components, including centriole; inclusion body; and perinuclear region of cytoplasm. Is active in glutamatergic synapse. Is expressed in several structures, including central nervous system; olfactory epithelium; peripheral nervous system; retina; and testis. Used to study Huntington's disease. Human ortholog(s) of this gene implicated in Huntington's disease and Parkinson's disease. Orthologous to human HTT (Huntingtin). [provided by Alliance of Genome Resources, Apr 2022]
Htt Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_010414.3 | NP_034544.1 | huntingtin |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables diazepam binding |
IMP
IMP: Inferred from mutant phenotype
|
10082833 | MGI |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
9599014 | MGI |
| enables transcription factor binding |
IPI
IPI: Inferred from physical interaction
|
18595722 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in axon |
IDA
IDA: Inferred from direct assay
|
8757264 | MGI |
| located in centriole |
IDA
IDA: Inferred from direct assay
|
21985783 | MGI |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
7647777 | MGI |
| located in cytoplasmic vesicle |
IDA
IDA: Inferred from direct assay
|
15242649 | MGI |
| located in endoplasmic reticulum |
IDA
IDA: Inferred from direct assay
|
25738228 | MGI |
| is active in glutamatergic synapse |
IDA
IDA: Inferred from direct assay
|
20739295 | MGI |
| is active in glutamatergic synapse |
IEP
IEP: Inferred from expression pattern
|
20739295 | MGI |
| is active in glutamatergic synapse |
IMP
IMP: Inferred from mutant phenotype
|
20739295 | MGI |
| located in inclusion body |
IDA
IDA: Inferred from direct assay
|
15615787 | MGI |
| located in perinuclear region of cytoplasm |
IDA
IDA: Inferred from direct assay
|
25738228 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
huntingtin |
|
|