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
- Acts upstream of or within 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 be located in nucleus. Predicted to be active in cytoplasm. Is expressed in brain; head; intermediate cell mass of mesoderm; and post-vent region. 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).
- 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
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa12352 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa15014 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa19544 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa19545 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa38282 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa39657 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa39658 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa39659 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa45079 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| zf3263 | Allele with one deletion | Unknown | Unknown | CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-htt | China Zebrafish Resource Center (CZRC) | |
| CRISPR2-htt | Sidik et al., 2019 | |
| CRISPR3-htt | Sidik et al., 2019 | |
| MO1-htt | N/A | (7) |
| MO2-htt | N/A | (4) |
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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 | Additional Resources | 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 | InterPro | 3169 | ||||||||
| UniProtKB:A0A8M2B6V6 | InterPro | 3115 | ||||||||
| UniProtKB:A0A8M3AIU2 | InterPro | 3106 | ||||||||
| UniProtKB:A0A8M3B295 | InterPro | 3178 | ||||||||
| UniProtKB:A0A8M3AIT6 | InterPro | 3184 | ||||||||
| UniProtKB:O42269 | InterPro | 3121 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| antisense |
ottdart00000041370
(1)
|
Ensembl | 902 nt | ||
| mRNA |
htt-201
(1)
|
Ensembl | 10,780 nt |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-89O9 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-21K13 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-180B4 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_131018 (1) | 10620 nt | ||
| Genomic | GenBank:BX511019 (2) | 180744 nt | ||
| Polypeptide | UniProtKB:A0A8M3AIT6 (1) | 3184 aa |
- Rani, R., Sri, N.S., Medishetti, R., Chatti, K., Sevilimedu, A. (2024) Loss of FMRP affects ovarian development and behaviour through multiple pathways in a zebrafish model of fragile X syndrome. Human molecular genetics. 33(16):1391-1405
- Sidik, H., Ang, C.J., Pouladi, M.A. (2019) Huntingtin confers fitness but is not embryonically essential in zebrafish development. Developmental Biology. 458(1):98-105
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Conforti, P., Zuccato, C., Gaudenzi, G., Ieraci, A., Camnasio, S., Buckley, N.J., Mutti, C., Cotelli, F., Contini, A., and Cattaneo, E. (2013) Binding of the repressor complex REST-mSIN3b by small molecules restores neuronal gene transcription in Huntington's disease models. Journal of neurochemistry. 127(1):22-35
- Lo Sardo, V., Zuccato, C., Gaudenzi, G., Vitali, B., Ramos, C., Tartari, M., Myre, M.A., Walker, J.A., Pistocchi, A., Conti, L., Valenza, M., Drung, B., Schmidt, B., Gusella, J., Zeitlin, S., Cotelli, F., and Cattaneo, E. (2012) An evolutionary recent neuroepithelial cell adhesion function of huntingtin implicates ADAM10-Ncadherin. Nature Neuroscience. 15(5):713-721
- Diekmann, H., Anichtchik, O., Fleming, A., Futter, M., Goldsmith, P., Roach, A., and Rubinsztein, D.C. (2009) Decreased BDNF levels are a major contributor to the embryonic phenotype of huntingtin knockdown zebrafish. The Journal of neuroscience : the official journal of the Society for Neuroscience. 29(5):1343-1349
- Futter, M., Diekmann, H., Schoenmakers, E., Sadiq, O., Chatterjee, K., and Rubinsztein, D.C. (2009) Wild-type but not mutant huntingtin modulates the transcriptional activity of liver X receptors. Journal of Medical Genetics. 46(7):438-446
- Henshall, T.L., Tucker, B., Lumsden, A.L., Nornes, S., Lardelli, M.T., and Richards, R.I. (2009) Selective neuronal requirement for Huntingtin in the developing zebrafish. Human molecular genetics. 18(24):4830-4842
- Lumsden, A.L., Henshall, T.L., Dayan, S., Lardelli, M.T., and Richards, R.I. (2007) Huntingtin-deficient zebrafish exhibit defects in iron utilization and development. Human molecular genetics. 16(16):1905-1920
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