Gene
ift52
- ID
- ZDB-GENE-040614-3
- Name
- intraflagellar transport 52 homolog (Chlamydomonas)
- Symbol
- ift52 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Acts upstream of or within cilium assembly and intraciliary transport. Located in axoneme and ciliary basal body. Is expressed in several structures, including Kupffer's vesicle; forerunner cell group; nervous system; neural tube; and pronephric duct. Human ortholog(s) of this gene implicated in asphyxiating thoracic dystrophy. Orthologous to human IFT52 (intraflagellar transport 52).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 11 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:101779 (18 images)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Dupont et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| ii003 | Allele with one deletion | Unknown | Frameshift, Premature Stop | CRISPR | |
| la017692Tg | Transgenic insertion | Unknown | Unknown | DNA |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-ift52 | Dupont et al., 2019 | |
| MO1-ift52 | N/A | Tsujikawa et al., 2004 |
| MO2-ift52 | N/A | (2) |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Short-rib thoracic dysplasia 16 with or without polydactyly | 617102 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR048643 | Intraflagellar transport protein 52, C-terminal domain |
| Domain | IPR055458 | IFT52, GIFT domain |
| Domain | IPR055460 | IFT52, central domain |
| Family | IPR039975 | Intraflagellar transport protein 52 homolog |
| Homologous_superfamily | IPR029062 | Class I glutamine amidotransferase-like |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Class I glutamine amidotransferase-like | IFT52, central domain | IFT52, GIFT domain | Intraflagellar transport protein 52, C-terminal domain | Intraflagellar transport protein 52 homolog |
|---|---|---|---|---|---|---|---|
| UniProtKB:Q5PRA7 | InterPro | 435 |
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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 | CH73-303B9 | ZFIN Curated Data | |
| Contained in | BAC | CH211-266K22 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:101779 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:192660 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001001834 (1) | 2011 nt | ||
| Genomic | GenBank:AL935272 (1) | 145553 nt | ||
| Polypeptide | UniProtKB:Q5PRA7 (1) | 435 aa |
- 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):
- Dupont, M.A., Humbert, C., Huber, C., Siour, Q., Guerrera, I.C., Jung, V., Christensen, A., Pouliet, A., Garfa-Traore, M., Nitschké, P., Injeyan, M., Millar, K., Chitayat, D., Shannon, P., Girisha, K.M., Shukla, A., Mechler, C., Lorentzen, E., Benmerah, A., Cormier-Daire, V., Jeanpierre, C., Saunier, S., Delous, M. (2019) Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion. Human molecular genetics. 28(16):2720-2737
- 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
- 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
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
- Chiarelli, N., Ritelli, M., Zoppi, N., Benini, A., Borsani, G., Barlati, S., and Colombi, M. (2011) Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio. The International journal of developmental biology. 55(2):229-36
- Zhao, C., and Malicki, J. (2011) Nephrocystins and MKS proteins interact with IFT particle and facilitate transport of selected ciliary cargos. The EMBO journal. 30(13):2532-2544
- Hudak, L.M., Lunt, S., Chang, C.H., Winkler, E., Flammer, H., Lindsey, M., and Perkins, B. (2010) The Intraflagellar Transport Protein Ift80 is essential for Photoreceptor Survival in a Zebrafish Model of Jeune Asphyxiating Thoracic Dystrophy. Investigative ophthalmology & visual science. 51(7):3792-3799
- Sukumaran, S., and Perkins, B.D. (2009) Early defects in photoreceptor outer segment morphogenesis in zebrafish ift57, ift88 and ift172 Intraflagellar Transport mutants. Vision Research. 49(4):479-489
- Insinna, C., Pathak, N., Perkins, B., Drummond, I., and Besharse, J.C. (2008) The homodimeric kinesin, Kif17, is essential for vertebrate photoreceptor sensory outer segment development. Developmental Biology. 316(1):160-170
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