Gene
ift172
- ID
- ZDB-GENE-040827-1
- Name
- intraflagellar transport 172
- Symbol
- ift172 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Acts upstream of or within several processes, including photoreceptor cell maintenance; regulation of TOR signaling; and retina development in camera-type eye. Predicted to be located in cilium. Predicted to be part of intraciliary transport particle B. Predicted to be active in axoneme and ciliary basal body. Used to study cystic kidney disease and polycystic kidney disease. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 20; retinitis pigmentosa 71; and short-rib thoracic dysplasia 10 with or without polydactyly. Orthologous to human IFT172 (intraflagellar transport 172).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Zhu et al., 2021
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 28 figures from 17 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Bardet-Biedl syndrome 20 | Alliance | Bardet-Biedl syndrome 20 | 619471 |
| retinitis pigmentosa 71 | Alliance | Retinitis pigmentosa 71 | 616394 |
| short-rib thoracic dysplasia 10 with or without polydactyly | Alliance | Short-rib thoracic dysplasia 10 with or without polydactyly | 615630 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| cystic kidney disease | li1Tg + MO3-ift172 | control | Pandey et al., 2019 |
| polycystic kidney disease | ift172hi2211Tg/hi2211Tg (AB/TU) | standard conditions | Cao et al., 2009 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | WD40 repeat | WD40-repeat-containing domain superfamily | WD40/YVTN repeat-like-containing domain superfamily |
|---|---|---|---|---|
|
UniProtKB:Q5RHH4
|
1745 | |||
|
UniProtKB:B3DK94
|
1745 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
ift172-201
(1)
|
Ensembl | 5,655 nt |
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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 | DKEY-221H15 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:195072 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001002312 (1) | 5650 nt | ||
| Genomic | GenBank:BX511178 (1) | 187362 nt | ||
| Polypeptide | UniProtKB:B3DK94 (1) | 1745 aa |
- Wang, J., Thomas, H.R., Thompson, R.G., Waldrep, S.C., Fogerty, J., Song, P., Li, Z., Ma, Y., Santra, P., Hoover, J.D., Yeo, N.C., Drummond, I.A., Yoder, B.K., Amack, J.D., Perkins, B., Parant, J.M. (2022) Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants. Disease models & mechanisms. 15(12):
- Zhu, P., Xu, J., Wang, Y., Zhao, C. (2021) Loss of Ift74 Leads to Slow Photoreceptor Degeneration and Ciliogenesis Defects in Zebrafish. International Journal of Molecular Sciences. 22(17):
- Pollock, L.M., Perkins, B., Anand-Apte, B. (2020) Primary cilia are present on endothelial cells of the hyaloid vasculature but are not required for the development of the blood-retinal barrier. PLoS One. 15:e0225351
- Pandey, G., Westhoff, J.H., Schaefer, F., Gehrig, J. (2019) A Smart Imaging Workflow for Organ-Specific Screening in a Cystic Kidney Zebrafish Disease Model. International Journal of Molecular Sciences. 20(6)
- Bergboer, J.G.M., Wyatt, C., Austin-Tse, C., Yaksi, E., Drummond, I.A. (2018) Assaying sensory ciliopathies using calcium biosensor expression in zebrafish ciliated olfactory neurons. Cilia. 7:2
- Eisa-Beygi, S., Benslimane, F.M., El-Rass, S., Prabhudesai, S., Abdelrasoul, M.K.A., Simpson, P.M., Yalcin, H.C., Burrows, P.E., Ramchandran, R. (2018) Characterization of Endothelial Cilia Distribution During Cerebral-Vascular Development in Zebrafish ( Danio rerio). Arteriosclerosis, Thrombosis, and Vascular Biology. 38:2806-2818
- Xu, W., Jin, M., Hu, R., Wang, H., Zhang, F., Yuan, S., Cao, Y. (2017) The Joubert Syndrome Protein Inpp5e Controls Ciliogenesis by Regulating Phosphoinositides at the Apical Membrane. Journal of the American Society of Nephrology : JASN. 28(1):118-129
- Shim, H., Kim, J.H., Kim, C.Y., Hwang, S., Kim, H., Yang, S., Lee, J.E., Lee, I. (2016) Function-driven discovery of disease genes in zebrafish using an integrated genomics big data resource. Nucleic acids research. 44:9611-9623
- Bujakowska, K.M., Zhang, Q., Siemiatkowska, A.M., Liu, Q., Place, E., Falk, M.J., Consugar, M., Lancelot, M.E., Antonio, A., Lonjou, C., Carpentier, W., Mohand-Saїd, S., den Hollander, A.I., Cremers, F.P., Leroy, B.P., Gai, X., Sahel, J.A., van den Born, L.I., Collin, R.W., Zeitz, C., Audo, I., Pierce, E.A. (2015) Mutations in IFT172 Cause Isolated Retinal Degeneration and Bardet-Biedl Syndrome. Human molecular genetics. 24(1):230-42
- 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
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