Gene
htt
- ID
- ZDB-GENE-990415-131
- Name
- huntingtin
- Symbol
- htt Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Involved in several processes, including chordate embryonic development; positive regulation of brain-derived neurotrophic factor receptor signaling pathway; and regulation of cell-cell adhesion mediated by cadherin. Predicted to localize to cytoplasm and nucleus. Used to study Huntington's disease. Human ortholog(s) of this gene implicated in Huntington's disease and Parkinson's disease. Is expressed in brain; head; intermediate cell mass of mesoderm; and post-vent region. Orthologous to human HTT (huntingtin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 17 figures from 6 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Huntington's disease | Alliance | Huntington disease | 143100 |
Lopes-Maciel-Rodan syndrome | 617435 |
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
Huntington's disease | WT + MO1-htt | standard conditions | Conforti et al., 2013 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Family | IPR000091 | Huntingtin |
Family | IPR028426 | Huntingtin family |
Homologous_superfamily | IPR011989 | Armadillo-like helical |
Homologous_superfamily | IPR016024 | Armadillo-type fold |
Repeat | IPR024613 | Huntingtin, N-terminal, HEAT repeats 2 |
Repeat | IPR048411 | Huntingtin, N-terminal, HEAT repeats 1 |
Repeat | IPR048412 | Huntingtin, bridge |
Repeat | IPR048413 | Huntingtin, C-terminal HEAT repeats |
Domain Details Per Protein
Protein | Length | Armadillo-like helical | Armadillo-type fold | Huntingtin | Huntingtin, bridge | Huntingtin, C-terminal HEAT repeats | Huntingtin family | Huntingtin, N-terminal, HEAT repeats 1 | Huntingtin, N-terminal, HEAT repeats 2 |
---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8M3AU50
|
3169 | ||||||||
UniProtKB:A0A8M2B6V6
|
3115 | ||||||||
UniProtKB:A0A8M3AIU2
|
3106 | ||||||||
UniProtKB:A0A8M3B295
|
3178 | ||||||||
UniProtKB:A0A8M3AIT6
|
3184 | ||||||||
UniProtKB:O42269
|
3121 |
Type | Name | Annotation Method | Length (nt) | Analysis |
---|---|---|---|---|
antisense |
ottdart00000041370
(1)
|
Havana | 902 nt | |
mRNA |
htt-201
(1)
|
Havana | 10780 nt |
Interactions and Pathways
No data available
Plasmids
No data available