Gene
ift81
- ID
- ZDB-GENE-040714-3
- Name
- intraflagellar transport 81 homolog
- Symbol
- ift81 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to enable tubulin binding activity. Acts upstream of or within pronephros development and regulation of TOR signaling. Predicted to be located in cilium. Predicted to be part of intraciliary transport particle B. Predicted to be active in ciliary basal body. Is expressed in notochord; otic vesicle; pronephric duct; and ventricular system. Human ortholog(s) of this gene implicated in short-rib thoracic dysplasia 19 with or without polydactyly. Orthologous to human IFT81 (intraflagellar transport 81).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 12 figures from 8 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
hi409Tg | Transgenic insertion | Exon 1 | Unknown | DNA | |
hu7911 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa7332 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa14146 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa31633 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa34331 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa38673 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa41136 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
short-rib thoracic dysplasia 19 with or without polydactyly | Alliance | Short-rib thoracic dysplasia 19 with or without polydactyly | 617895 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | IFT81, calponin homology domain | IFT81, N-terminal domain superfamily | Intraflagellar transport protein 81 |
---|---|---|---|---|---|
UniProtKB:Q6IVW2 | InterPro | 675 |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | CH211-248E11 | ZFIN Curated Data | |
Contained in | BAC | DKEY-252G21 | ZFIN Curated Data | |
Encodes | cDNA | MGC:195309 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001002313 (1) | 2986 nt | ||
Genomic | GenBank:CR361566 (1) | 182625 nt | ||
Polypeptide | UniProtKB:Q6IVW2 (1) | 675 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):
- 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
- Pettersson, M., Vaz, R., Hammarsjö, A., Eisfeldt, J., Carvalho, C.M.B., Hofmeister, W., Tham, E., Horemuzova, E., Voss, U., Nishimura, G., Klintberg, B., Nordgren, A., Nilsson, D., Grigelioniene, G., Lindstrand, A. (2018) Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias. Human Mutation. 39(10):1456-1467
- Dharmat, R., Liu, W., Ge, Z., Sun, Z., Yang, L., Li, Y., Wang, K., Thomas, K., Sui, R., Chen, R. (2017) IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration. Investigative ophthalmology & visual science. 58:2483-2490
- Ribas, L., Liew, W.C., Díaz, N., Sreenivasan, R., Orbán, L., Piferrer, F. (2017) Heat-induced masculinization in domesticated zebrafish is family-specific and yields a set of different gonadal transcriptomes. Proceedings of the National Academy of Sciences of the United States of America. 114(6):E941-E950
- 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
- Kallakuri, S., Yu, J.A., Li, J., Li, Y., Weinstein, B.M., Nicoli, S., Sun, Z. (2015) Endothelial Cilia Are Essential for Developmental Vascular Integrity in Zebrafish. Journal of the American Society of Nephrology : JASN. 26(4):864-75
- Swartz, M.E., Wells, M.B., Griffin, M., McCarthy, N., Lovely, C.B., McGurk, P., Rozacky, J., and Eberhart, J.K. (2014) A Screen of Zebrafish Mutants Identifies Ethanol-Sensitive Genetic Loci. Alcoholism, clinical and experimental research. 38(3):694-703
- Dibella, L.M., Park, A., and Sun, Z. (2009) Zebrafish Tsc1 Reveals Functional Interactions Between the Cilium and the TOR Pathway. Human molecular genetics. 18(4):595-606
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