Gene
ahi1
- ID
- ZDB-GENE-060803-1
- Name
- Abelson helper integration site 1
- Symbol
- ahi1 Nomenclature History
- Previous Names
-
- ZAhi-1 (1)
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Acts upstream of or within several processes, including motile cilium assembly; neuron development; and otic vesicle development. Predicted to be active in ciliary basal body. Is expressed in several structures, including Kupffer's vesicle; digestive system; nervous system; optic vesicle; and pleuroperitoneal region. Used to study Joubert syndrome. Human ortholog(s) of this gene implicated in Joubert syndrome 3; Joubert syndrome 4; and autism spectrum disorder. Orthologous to human AHI1 (Abelson helper integration site 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 16 figures from 4 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| lri46 | Allele with one deletion | Exon 5 | Premature Stop | TALEN | |
| lri47 | Allele with one delins | Exon 5 | Premature Stop | TALEN | |
| lri53 | Allele with one deletion | Exon 5 | Premature Stop | TALEN | |
| sa15936 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa23001 | Allele with one point mutation | Unknown | Unknown | ENU | |
| sa32121 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa36320 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa36321 | Allele with one point mutation | Unknown | Splice Site | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Joubert syndrome 3 | Alliance | Joubert syndrome 3 | 608629 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| Joubert syndrome | ahi1lri46/lri46 | standard conditions | Lessieur et al., 2017 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Jouberin, SH3 domain | Primary Cilium-Associated Jouberin | SH3 domain | SH3-like domain superfamily | WD40 repeat | WD40 repeat, conserved site | WD40-repeat-containing domain superfamily | WD40/YVTN repeat-like-containing domain superfamily |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:F1QX08
|
1190 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-195G8 | ZFIN Curated Data | |
| Contained in | BAC | CH211-236P5 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001319989 (1) | 3983 nt | ||
| Genomic | GenBank:BX248131 (2) | 162685 nt | ||
| Polypeptide | UniProtKB:F1QX08 (1) | 1190 aa |
- Keatinge, M., Tsarouchas, T.M., Munir, T., Porter, N.J., Larraz, J., Gianni, D., Tsai, H.H., Becker, C.G., Lyons, D.A., Becker, T. (2021) CRISPR gRNA phenotypic screening in zebrafish reveals pro-regenerative genes in spinal cord injury. PLoS Genetics. 17:e1009515
- Lessieur, E.M., Song, P., Nivar, G.C., Piccillo, E.M., Fogerty, J., Rozic, R., Perkins, B.D. (2019) Ciliary genes arl13b, ahi1 and cc2d2a differentially modify expression of visual acuity phenotypes but do not enhance retinal degeneration due to mutation of cep290 in zebrafish. PLoS One. 14:e0213960
- Zhu, L., Chen, L., Yan, L., Perkins, B.D., Li, S., Li, B., Xu, H.A., Li, X.J. (2019) Mutant Ahi1 Affects Retinal Axon Projection in Zebrafish via Toxic Gain of Function. Frontiers in Cellular Neuroscience. 13:81
- Lessieur, E.M., Fogerty, J., Gaivin, R.J., Song, P., Perkins, B.D. (2017) The Ciliopathy Gene ahi1 Is Required for Zebrafish Cone Photoreceptor Outer Segment Morphogenesis and Survival. Investigative ophthalmology & visual science. 58:448-460
- 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
- Elsayed, S.M., Phillips, J.B., Heller, R., Thoenes, M., Elsobky, E., Nürnberg, G., Nürnberg, P., Seland, S., Ebermann, I., Altmüller, J., Thiele, H., Toliat, M., Körber, F., Hu, X., Wu, Y.D., Zaki, M.S., Abdel-Salam, G., Gleeson, J., Boltshauser, E., Westerfield, M., Bolz, H.J. (2015) Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene. Human molecular genetics. 24(9):2594-603
- Simms, R.J., Hynes, A.M., Eley, L., Inglis, D., Chaudhry, B., Dawe, H.R., and Sayer, J.A. (2012) Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development. Cellular and molecular life sciences : CMLS. 69(6):993-1009
- Doering, J.E., Kane, K., Hsiao, Y.C., Yao, C., Shi, B., Slowik, A.D., Dhagat, B., Scott, D.D., Ault, J.G., Page-McCaw, P.S., and Ferland, R.J. (2008) Species differences in the expression of Ahi1, a protein implicated in the neurodevelopmental disorder Joubert syndrome, with preferential accumulation to stigmoid bodies. The Journal of comparative neurology. 511(2):238-256
- Zhou, W., and Song, P. (2006) Molecular Cloning of a Novel Gene ZAhi-1 and its Expression Analysis during Zebrafish Gametogenesis. Molecular biology reports. 33(2):111-116
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